Wednesday, December 14, 2011

Community of Love

We have been very open and public about our journey through our pregnancy with our son Kyle (Oct 24 - Nov 8, 2011).  His life has not only affected us as a family, but our extended family, friends, acquaintances, doctors, hospital staff, and many people who I have never even met. 

Not only did it affect these people, but his life created a lot of conversation right from the very beginning.  Some people didn't understand why I didn't abort immediately after finding out he was affected.  Others were incredibly hopeful for the medical treatment of a liver transplant that was available this time, that wasn't a possibility eight years ago when we went through this before.  After his death, many have struggled with the "How could this happen," either from a medical or theological perspective, or both.  Awareness about urea cycle disorders and awareness about organ donation have occurred.  A new study on hepatocyte transplant (injection of healthy liver cells) will be taking place for children with urea cycle disorders in Toronto because of the behind the scenes research that the metabolic genetics department did because of information I had them look into while looking into treatment options for us.

We have been overwhelmed by the generosity of others.  From the many people who looked into the possibility of being a donor, those who spent hours in prayer, those who helped financially, those who brought us flowers and meals and gift cards for meals both during our time at Sick Kids as well as in the weeks we've been home.  For those who have visited and listened and laughed and cried with us. For the heartfelt letters, that I will go back to read.  One family even provided us tickets to go see Mary Poppins the musical in Toronto as a way to reconnect as a family, which is something I would never have thought of, but was highly valued and appreciated by us.  People often ask what they can do for us, and I never have an answer.  Sometimes you don't even realize what it is you need.  A reconnection experience to adjust into our "new normal" was one of those things.

I'm not very good at accepting things from people, but I was told by many (my husband, social worker, pastor, etc.) that if someone offers something, I need to say yes, because 1) I need to and deserve to (I still have issues with the "deserve to".  I don't think I do, but I digress...) and 2) Because individually and as a community, people want and have the need or desire to help, and they can't help with allowing us to still have our son, so they help in whatever way they feel they can.  So when offered, I say yes, and we have been blessed and overcome by the generosity of others. 

I have noticed a few blog posts about Kyle's life in the last few weeks.  I thought I would share them here.

http://www.transplantedthoughts.com/?p=2309

http://myunstilllife.blogspot.com/2011/11/with-love-in-my-heart.html

http://www.theanthonycrew.com/2011/11/power-of-prayer.html

http://jamsideup.ca/blog/?p=1397

I was also interviewed during my pregnancy by Camilla Cornell, who wrote an article entitled "Gene Genie" in the 2011/2012 Winter Edition of the Pregnancy Special of  Today's Parent Magazine.  I can't find an online link at this point, but I'll put it in if I find one.  Look for this magazine at your doctors office.  They are distributed free of charge.

It is now 7 weeks since I gave birth to Kyle, and 5 since he died.  I went back to work after our son Colin 6 weeks after giving birth and his death (he lived for 3 days) and it was much too soon on an emotional level. I will return to work this time at the beginning of February, 15 weeks after giving birth, 13 weeks after his death.  It's amazing how much time is needed to process death.  I'm not sure that it ever fully gets processed.


The Last Few Days Nov 6-8 and Beyond


In memory of our baby Kyle: Oct 24, 2011 - Nov 8, 2011.  We had 15 days with him.  This is a summary of the last few days.

If you havn't read my recap of Week One, or the recap of Week Two, read them first.

We spent the day at Sick Kids on Sunday, including our daughter.  The nurse that day was the same nurse who was there the very first day Kyle was born and brought over from Mount Sinai.  She arranged to have Natasha be able to be let in to see Kyle since she wasn't officially allowed to on the PICU floor since she was under 12.  I'm very thankful she did this.

This was the last day that he was responsive at all...he would still grip your finger if you put it into his hand.

They did neurological tests on Monday and Tuesday.  MRI, ECG, and a special type of ECG where they put goggles on and flash lights, do hearing testing as well as physical testing and all of them showed absolutely no response to stimuli of any form.  We made the decision to let him go, and spent time with him as a family for a while before releasing him from the meds and breathing tube. He was 15 days old.

It probably sounds strange, but the fact that the tests showed complete instead of partial damage made it easier to let him go, since we didn't have to make a choice in any form, the choice was already made for us.

It is extremely frustrating to us and to the doctors that they were able to get the metabolic condition under control only to have the E. Coli infection take over to such a terrible extent.

We came home late Tuesday night (Nov 8), and made visitation/cermony arrangements today for Saturday evening. We then travelled north to Sudbury to have him buried next to his brother Colin who died from the metabolic genetic condition at 3 days old 8 years ago.  It is also the same graveyard where my two brothers who also died from OTC, the same genetic disorder, were buried. 

We are exhausted, and sad, but overwhelmed by the tremendous amount of support we have received from all around us.  It's hard for people to hear that a baby has died...especially when this is the second time we have gone through it.  I don't know why us, but despite the grief and loss and pain and exhaustion, we are feeling overall ok right now, mostly because of how much support we have had.

The doctors commented how impressed they were with our advocacy for Kyle right from the beginning during the pregnancy.  Because of some of the information I had gathered and presented regarding emerging research for the condition at the beginning of this process, Sick Kids will be starting a new experimental treatment study to help babies with the same type of condition as well as other urea cycle disorders in the future. Kyle was not physically big enough for this treatment study, but I am proud that because of him it will be started at Sick Kids to help others if needed.

The study is experimental, and a little controversial, but we were willing to participate if we didn't have a liver donor or cadaver liver lined up fairly quickly due to the severity of the illness in our particular mutation of OTC.  It had been arranged for us to be flown to Yale to be in the study if needed.  One of our big concerns was travelling to the States.  As we had said to our doctors in Toronto, "Being in Toronto is hard enough, but at least our family and friends can come visit.  To go to the States means noone will be able to visit (due to finances), and we aren't familiar with the doctors down there."

In case you are interested in this study, here is a link, and if you want other information, let me know, as I do have other links I could share as well.

http://www.newswire.ca/en/story/861109/cytonet-s-liver-cell-therapy-trial-for-children-with-ucd-expands-to-canada

We were also told that Toronto General was overwhelmed with the number of applications they had for living donor for liver.  I know of six who applied, and another six who we told to told off because they only test one person at a time and they were still going through the applications they had.  Hopefully this has raised awareness of the need for organ donations and will help other families waiting.

There is so much more to write, but I have difficulty putting my feelings into words in general, and particularly in this situation.

Monday, November 28, 2011

Week Two at Toronto Sick Kids recap of Oct 31-Nov 6

In memory of our baby Kyle: Oct 24, 2011 - Nov 8, 2011.  We had 15 days with him.  This is a summary of week 2.

If you havn't read my recap of Week One, read it first.

Mike and our daughter left on Sunday night to go home, while I stayed in Toronto.  I already had a hotel room booked at the Delta Chelsea for this week, since originally I was supposed to have baby on Nov 1st by planned induction and I had booked it as a place for Mike to be able to sleep for the first couple days before I would be discharged, and then for me to join him.  The hospital and the hotel are only a block apart from each other which is really helpful.

The weekend had been hard, as I described in the previous post, with dialysis lines inserted, dialysis started and stopped, and ammonia levels spiking high. They had also attached Kyle up to a fancy EEG machine over the Sunday and Monday for 48 hours to monitor for the potential of both convulsive and non-convulsive seizure activity from the high ammonia levels that had occurred on Saturday.  Apparently Sick Kids is the only hospital in Canada to have this machine - it has many more electrical leads on it than a typical EEG machine.

Monday was Halloween. Mike wrote his status on G+ and Facebook that day:

First day back home for the day ... its a bit of a blur. Feels like yesterday I left with +Cindy Babcock, but its been a week. While I was there it felt like forever, like months were passing, watching him get hooked up to so much equipment and have so many people figure out how to best care for him. Its surreal now that I'm not there, trying to imagine now what I know I experienced all week.
Cindy's still at Sick Kids with Kyle trying to be strong, Natasha's here with me excited about Halloween tonight. Its two different worlds, and yet they're both happening right now.
I met with many doctors and support staff that day.  If I was in the room, there was someone there waiting to talk to me.  If I left to drink or eat, I came back to messages that people had come in looking for me.  I spent so many hours talking to staff that day, that I had to sit and start writing stuff down.  I'm usually quite good at remembering things, but it was overwhelming.

I'd also forgotten it was Halloween, and after talking with the lactation consultant who had what looked to be a police or army uniform on, I confusedly asked her if she was part of the Salvation Army?  That was the only thing I could think of as to why she would have this odd uniform on!  Nope, just Halloween!

A week of general antibiotics had just ended, which had been given as a precautionary measure against potential infection because he was so little, but that day they found E.Coli in a urine sample.  A kidney was enlarged as well, they suspected the E.Coli infection caused the enlargement.  New antibiotics to treat the E.Coli infection were started.  None of us realized at the time how bad this infection would turn out to be.

Ammonia levels were creeping back up, and the metabolics genetics team were concerned about the levels creeping back up and the potential cyclical cycle of needing dialysis.  They ordered a special TPN mixture (Total Parenteral Nutrition) in from the States that contained only essential amino acids and no non-essential amino acids, because the TPN mixture he was on was not being tolerated by his system well since it had too much protein in it with the non-essential amino acids in the mixture.  The special TPN mixture had to be approved by Health Canada, and once approved would be MADE in the States the next day.

Feeding had not been going great the previous week, which they put down as being because he was still slightly preemie with digestive tract not completely/fully developed yet.  They were feeding Kyle a "whopping" 2ml/hour of low protein formula, but he wasn't digesting it well, because of being small. They were starting him on domperidone to help with digestion.  The rest of his food was coming from the TPN mixture, along with IV drips of glucose and lipids (fats).  On the Monday, Oct 31st, they brought his formula feeding down to 1ml/hr through the NG tube.

The doctors did an ultrasound of the brain and could see swelling, and ordered an MRI for the next day to see more detail.

On Tuesday, on top of the E.Coli being found in the urine, they found an infection/growth that had started in the PICC line.  Ugh.

Neurology came back with results from the 48 hour EEG monitoring from the weekend, but no seizures were found on it.  This was really good news in my opinion, since it meant the high ammonia hadn't caused any neurological damage.  In retrospect, if only that was all we had to worry about.  In reality, the E.Coli infection had already started to cause damage on it's own...and it affected a different portion of the brain causing more damage than the ammonia would have.

Ammonia levels had continued to go up over night and through the day on Tuesday.  Dialysis was started again.  It did bring the levels down quickly, but the machine clotted, and they had to stop the dialysis after a few hours.

The MRI didn't end up happening on Tues, there was a backup of people waiting to use it, so it was booked and done on Wednesday.

On Wednesday afternoon, they asked if Mike could come come back to the hospital so that the doctors could meet with both of us together later that evening.  Never a good sign.  Mike left work early, dropped Natasha off a relatives along the way, and made it down for our meeting. Thank goodness I had one of my friends with me that day visiting.  I was a mess.

Once Mike arrived we met with the metabolic and PICU doctors.  The doctors were highly concerned because of the infection.  It had developed into full septic shock, and Kyle was already on the highest dosages of blood pressure medication they could give him.  They didn't know if the infection had already hit it's peak or not.  If it hadn't and if it was going to get worse, they feared there was nothing else they could do, because they couldn't give any more medication for blood pressure.  Their fear was that if the infection had not reached it's peak, and the blood pressure got worse there would be nothing they could do because they couldn't increase the blood pressure medication.

They were also concerned about the swelling in the brain that they could see from the MRI.  They knew based on where the swelling was (base of brain stem and basal ganglia) that it was caused by the infection and not from high ammonia.  They were hopeful that the swelling would reduce, but it would have to be a wait and see situation.

We were told that treatment for the E.Coli infection/septic shock was a three week treatment of heavy duty antibiotics. I remember gasping when I heard three weeks...that is what cemented how serious everything was to me, since I've never heard of antibiotics being used for that long at once.

Kyle was taken off the transplant list on the Wednesday night because of the infection.  I had assumed that this meant he would be off the list for the full three weeks while treating the infection, but I learned later that as long as the infection was shown to not be getting worse he could be put back on the list.

On Thursday, the special TPN mixture that had been specially made in the States on Tuesday arrived. It had got held up at the border on the Wednesday and it took some behind the scenes work by the metabolic doctors to get it through customs.  Amazingly, this mixture did the trick, and ammonia levels kept low once this mixture started to be used.  The infection seemed to have leveled off and not got any worse, and over the next few days they were able to reduce the blood pressure medication until he was taken off all blood pressure meds.

He was considered stable over this time, and blood work showed that the infection was starting to clear up based on blood cell counts.  Although he wasn't getting worse, he wasn't getting any better either.  He hadn't been awake or been able to open his eyes since the dialysis tubes went in on Saturday.  He was responding a little bit, but not a lot, to touch, and was only moving his arms and legs on rare occasion.  What we didn't realize is that normally babies start trying to take the breathing tube out after a couple days, and he hadn't tried to.  The doctors were really hoping that he would start responding more, and ideally, try to take the tube out to show that he was responsive.

On Friday, transplant had him weighed.  He weighed in at a whopping 9 lbs (from birth weight 12 days before of 5lbs 5oz), because he was SO swollen up with all the fluids/IV's they were giving him.  Transplant includes this swollen fluid/extra weight as normal weight. Transplant co-ordinator told us that since the infection was decreasing, he could be put back on the transplant list as soon as it was approved by the transplant surgeons.  Transplant surgeons decided they needed to wait until he showed signs of more responsiveness before putting him back on the list, since they were worried about potential neurological damage.

Saturday. Swollen from all the fluids.

On Saturday, we realized why they had weighed him.  We havn't been told this officially, (and due to privacy reasons I'm sure we won't be told), but we're pretty sure it's because they knew a liver was coming available and wanted to see if Kyle was big enough as well as healthy enough to be put back on the list for this possibility.  On Saturday, in the late afternoon they brought in a young baby, maybe only a couple months older than Kyle, who had just had a liver transplant into the bed space across from us in the PICU room Kyle was in. We're not supposed to know medical conditions of the other children in the room, but, a) the surgeon's name was listed as his doctor on the wall outside the room and it's the same doctor we had been dealing with, and b) I overheard one of the nurses telling one of the other staff that he had just had liver transplant.  I'm pretty sure in retrospect that had the infection not set in, causing the permanent damage it already had, that Kyle would have been transplanted that day.

A close up picture from Saturday.
By Saturday night I was getting quite concerned.  That he hadn't opened his eyes in a week, and wasn't responding enough.  Seeing the other baby come in and realizing he had been transplanted, and that he was alert and moving around even right after surgery, was more than hard. That night I took a look at a blog that I had bookmarked (there's a link on the side of this blog for it) of a family in the States who had a boy earlier in the year with a severe mutation of OTC, who had since been transplanted to see where they were at in the same time period.  The pictures showed the baby awake, alert, and with no breathing tube, and this was after having had a severe hyperammonemic episode in his first couple days.  At this point, I knew we were in trouble, but tried to remain hopeful.

The next post will be about the final couple days and beyond.

Friday, November 18, 2011

Week One at Toronto Sick Kids. A recap of Oct 24-30th.

In memory of our baby Kyle: Oct 24, 2011 - Nov 8, 2011.  We had 15 days with him.  This is a summary of the first 7 days.

As many people reading this know, I was pregnant with a baby boy affected with a severe mutation of Ornithine Transcarbamylase Deficiency, which means that he can't metabolize protein properly.  Protein gets changed into ammonia, but it doesn't get past that point in affected children.  The ammonia builds up, causing potential brain damage, and eventually causing the organs to shut down. We were going to do medical treatment to be followed by a liver transplant.  We weren't convinced we would get to the point of transplant, because the treatment would be difficult to manage.  But we were willing to try.  We were doing it day by day.  We were going to try, and if he made it, we would go buy everything that was needed.

I was due Nov 14, or Nov 11 based on ultrasound.  I've had two previous full term pregnancies.  My daughter was born at 10 days overdue.  Our first son, who died at 3 days old due to this same genetic disorder, was born exactly on due date.  Back then, in 2003, there was no real treatment option available to us, so we did care by parent after he was born. With this history of when I went into labour with previous pregnancies, we booked a planned induction at 38 weeks, 2 weeks before due date, so that the doctors would be ready for us and ready to treat the baby immediately.  I was planning on going to live in Toronto starting one week before as a just in case...  The doctors wanted me to be in the downtown core of Toronto (over two hours from where we live) as a precautionary measure in case I went into labour early.

Things don't always work out as planned.
  
My Facebook Status on Saturday Oct 22:  "I will be moving to TO on monday. If you don't have my text # let me know and I'll send it to you. My phone also has facebook, so you can still find me here too."

I had been planning on taking the evening Greyhound bus to Toronto on Monday Oct 24th and stay at my cousins for the week, but it didn't work out that way.  Instead, that morning I woke up to the very slightest bit of blood upon wiping after using the washroom.  I woke up my husband and told him we should probably go into the hospital as a just in case, since I've never had any bleeding in my pregnancies, and I was pretty sure I had "dropped" about a week and a half before.

That was 7am, got in the car at 7:30am, and my water broke in the car at 8am! Contractions started about an hour later, and we arrived in Toronto around 10am. We phoned the hospital on our way after my water broke, because there were special medicines that were to be used during my labour in order to help both the baby and I due to the genetic condition. They can't be mixed more than a couple days in advance, so they had been planning on having the pharmacy mix them the day before the planned induction.  I'm not going to go into it at this point since it probably deserves a whole post unto itself, but after delivery, I went into a wee little episode of medical delirium, where I lost 8 hours of memory and went a little crazy, due to extremely low potassium levels -a side effect of one of the medicines I was given.  We'll talk about that another time.  I'm not saying that I kicked doctors out of the room, or tore all my IV's out or anything like that of course. (Did I mention I went a little crazy? And remember none of it?)

Here is a picture of me at the hospital before they had a room ready for me.



Kyle was born at 1pm, at exactly 37 weeks going by last period date.  I was really sick this pregnancy, and had a hard time gaining weight...I gained 4 lbs, and he weighed 5lbs, 5oz.  I got the natural labour I wanted instead of the induction, and without the planned PICC line insertion for me that I had been worried about having.  Up until a few days ago, I was still bruised from all the bloodwork that had to be taken, which is what they were trying to avoid by having a planned PICC line put in. Considering that I tore out my IV lines, it's probably a good thing I didn't have the PICC line in.
  
My FB status 4:45am Tuesday morning Oct 25: So much for moving to TO a week ahead of time. Was planning on arriving in TO Monday evening, but went into natural labor monday morning! Baby Kyle Alexander Babcock arrived at 1 pm weighing 5 lbs, 5oz, or 2.405kg for the metric people. :) He is across the road at sick kids stable in picu now.

Kyle and I right after delivery.



Kyle was taken to across the road to Toronto Sick Kids immediately on Monday afternoon.  He was started on treatment for the metabolic condition, and was on the liver transplant list by Tuesday evening.  He had a PICC line inserted on the Thursday Oct 27th due to all the blood work they were taking from him to monitor ammonia levels, etc.

The hospital treated him as a preemie, because of his size, and because the doctors said he was actually more like 36 weeks instead of 37 weeks based on a number of factors including size and digestion. They put him on antibiotics immediately as a preemptive measure since small, preemie babies don't fight infection well.

Kyle Day 1 after hooked up to medicine through IV's.




On Friday Oct 28th, ammonia levels started to rise gradually.  The plan was that if levels went above 200, dialysis lines would be inserted and dialysis started. By Saturday morning they had drifted into the high 200's.  High levels of ammonia can lead to brain damage, so the plan was to ensure the levels were kept relatively low. Kyle went into surgery to have the dialysis lines inserted.  The surgery went well, but he lost a lot of fluid/blood during the surgery, and looked really tiny after it was done.  It then takes a while to get the dialysis set up and primed, and during this time his ammonia levels spiked really high, really quickly...to 600 and then to 900.  The spike in levels was unexpected. They were able to bring the levels back down with the dialysis, but in the meantime the room was crazy busy due to the spike in levels and the doctors trying to figure everything out. We had gone in, watched for a few minutes, realized it was too busy, and went and waited in the waiting room. The metabolic specialist said there were 25 staff in the room at one point between pediatrics, metabolics, dialysis, neurology, dietitians, respiratory therapists and more. They had put a breathing tube in before doing the surgery, which was to stay in for at least a few days after.

This picture is from the Saturday. PICC line in, dialysis lines in, breathing tube in, NG tube in, and IV's going in in many places.  It gives an illustration of how much medicine and equipment he was on at the time.




With the breathing tube in, he got bumped up a level on the transplant list from category 3 (in hospital) to category 4 (in hospital in ICU on life support systems).  The only category higher is 4F (in hospital in ICU on life support systems with fulminant sudden, full blown liver failure).

The plan had been to keep him on dialysis for a few days, and they would be able to adjust nutritional requirements during that time with the amount of protein they fed him, by combination of TPN (Total Parenteral Nutrition) and a low protein formula called Cyclinex via NG tube.  Nope. Plans don't work. Although the dialysis worked in bringing the ammonia down quickly, it was hard on his body, and by Sunday morning they took him off the dialysis because it caused his blood pressure to change too much. (High/low? I can't remember!)

Over Sunday night and Monday he was considered stable again, although ammonia numbers were starting to rise again.

Our daughter went back home after the birth and my mother in law came and looked after her for the week.  She came back down on the weekend, but in PICU siblings aren't officially allowed in unless they are over 12 (she's almost 10), because they can carry germs without being sick, and they don't want them transmitted in ICU, so it was hard. 

Being on the PICU or NICU floor is draining.  You can't have food or drinks with you in the room, so I would have to force myself out to go eat/drink.  I knew I needed to in order to maintain my own energy, but also because if I got sick, I wouldn't be allowed on the floor or in the room with Kyle.  It's a shared room with 3 other children (there are no semi private rooms in ICU at this hospital), and if the doctors were doing rounds, you could stay in the room while they were discussing your child, but had to leave while they were discussing other children.  If they were doing a sterile procedure on someone you had to leave.  And during shift change between approximately 7 and 8 both am and pm, you couldn't go in either.  Add in time away for pumping breastmilk...the lactation consultant recommended pumping for 20 minutes if you were double pumping (both breasts at the same time) or 40 minutes for single pumping, every 3 hours.  I pumped, in the hopes that the milk could be used after liver transplant, or to supplement the low protein formula, but nowhere near that amount.  It simply wasn't realistic in the situation.  You can also only have a total of two people in the room at a time, so if family came to visit, Mike or I would have to bring people in one at a time to see him.

When you were in the room, much of the time was spent talking to the doctors and other staff. Pediatrics, Metabolic Genetics, Transplant...each of which had the doctor on call, specialists, fellows, residents, etc, as well as supporting staff such as dietitians, respiratory therapists, transplant co-ordinators, social workers, lactation consultants, chaplains, plus your nurse for the shift.  Every staff member we met, from housekeeping to cafeteria workers to doctors and nurses were phenomenal to deal with.

During Sunday and Monday Kyle was considered stable, but the ammonia levels did start to creep back up.

This is the end of the recap of week one.  I think this post is long enough, and I will post week 2 as a separate post, hopefully by later this week.


Friday, October 21, 2011

Liver Transplant Donor Application Update

I have some important news to share.  All blood types can now apply to be a living liver donor towards our baby.  Previously only B or O could apply, and they are now opening it up to A and AB donors.  Positive/negative blood type does not matter. This is called "ABO incompatible matching", and is not typically done.  Toronto has done it with adults, but never with children. 

When we met with the transplant team a couple of weeks ago, they had mentioned that they were going to add in the possibility of using ABO incompatible livers from cadavers if they came in to bring up the odds of finding a liver.  This is only done in rare cases.  Our next question to them automatically became, "If you are willing to do that, what about incompatible blood type living donors?"  They mentioned that they had not done this at Sick Kids before, but would talk it over with the living donor co-ordinators at Toronto General as well as the main surgeon (who was in surgery during our last meeting.)

I received an email today saying that it had been approved, and if we knew of anyone with the other blood types who would be interested in applying that they could.  Healthy, ages 18-60, in normal weight range. 

This is a link to the Liver Donation Manual.  There are a few things in it that don't apply to our situation - like the fact that normally they don't look at potential donors until the person is on the transplant list.  Since baby will be on the list immediately after birth, they are looking at the possibilities of screening donors now.  It's a very detailed document about the procedure!

Finally, here is a link to the Donor Health History Application Form. Where it asks for the recipients name, we are using "Baby Boy Babcock" for now, and he will be at Sick Kids. If you need any more info let me know, and I'll give you the number for the living donor transplant co-ordinator at Toronto General Hospital who looks after all this, and answers questions for those considering the process.

Applications get sent to:

Toronto General Hospital
Living Donor Assessment Office
585 University Avenue
NCSB-12C 1217
Toronto, ON M5G 2N2
Fax 416-340-3097

Wednesday, October 12, 2011

Meetings with Transplant & Social Work

I realized I never posted about our meetings with liver transplant and social work last week.

We were supposed to meet with two of the liver transplant surgeons, along with our co-ordinator.  One of the surgeons was unable to meet, because they had a cadaver liver transplant that day, which of course, you can't plan ahead of time more than a few hours!  During our meeting, our transplant co-ordinator got a page, and said "Part of my job is going to pick up the organs when they are available, and I need to leave to go get one."  They knew it was going to be ready for her to pick up soon, since it was for the surgery that the surgeon was called into.  Off she went, changed into her scrubs, and went across to one of the other nearby hospitals to return with a liver!  Not a job responsibility I would EVER want.  It made for interesting conversation when she returned.  She never takes the street, always takes the tunnel system, and always brings a group of people with her.  She brought 4 this time.  The surgery they did that day was number 25 for the year at Sick Kids.  They typically do between 20 and 25 liver transplants a year, but apparently this year has been busier than normal.  I suspect that part of the reason they are busier is because urea cycle disorders like ours are being treated much more often now with liver transplant, particularly at young ages. They know it works as a cure, and with each one the surgeons perform, their experience is growing. 

We also met with the liver transplant social worker, who was GREAT.  She will apply to Ronald McDonald House for us starting on Oct 31, and will phone in each day over the first few days to keep us on the waiting list since we will be busy.  Hopefully we get in sooner than later, because staying downtown Toronto is expensive.  Worst comes to worst, I can commute it until then, but the 2.5 hour commute each way won't be fun.  She is also going to apply to the David Foster Foundation for us, although nothing is guaranteed.  This foundation helps families with children undergoing transplant with some of the many extra expenses that come up.

We told her that we weren't preparing in any way for the baby to come home.  We are taking everything day by day.  If baby comes home, we will do a major shopping spree at the time!  She told us that in typical Jewish culture, there are no baby showers ahead of time, and nothing is bought until the baby is coming home from the hospital.  I did not know this, but apparently we can say we're following Jewish tradition. :)

I'm off to Toronto again in the morning...  I'm hoping it will be a fairly quick afternoon of just a couple appointments, and that I can make the 4:30 bus back home...otherwise I have to wait around until the 7:30pm bus. I have ultrasound and obstetrician appointments scheduled, but I seem to always end up with extra appointments while I'm there.  One of the things I will be asking for is a doctors note/prescription for a breast pump.  Since baby can't drink any breastmilk until after transplant, I'm going to see if I can pump.  Don't know if I can, but we'll see.  With a doctors note that it is medically needed, my work insurance company will pay up to $200 towards purchase, or 3 months of pump rental.  I will purchase one, probably from Sick Kids hospital.  Ultrasound will also give an estimate of how big the baby currently is.  Two weeks ago, they estimated 4lbs 13oz at the time.

I set up a Facebook page that tells about how we are looking for a donor for the liver.  If you search "Baby Boy Babcock" on Facebook you will find it, or you can find it Right Here.  Feel free to join the group and share the link.  I know that we've had a few people apply, but I don't know if any of them will be considered successful matches.

Thursday, October 6, 2011

Random Liver Transplant Facts

 Some random facts about liver transplant:
  • There are typically between 20 and 30 children on the waiting list for a liver at a time just at Toronto Sick Kids hospital. Toronto and London are the two transplant centres in Ontario.

  • No cadaver livers came into Sick Kids hospital during July or August this year, but two became available this past weekend resulting in transplants (including the other OTC case I wrote about earlier). The waiting period for a cadaver liver is very random.

  • The first living donor transplant in Toronto was performed in 1996.

  • Toronto is the largest, most experienced living donor transplant centre in North America.

  • The list for people needing transplants in Ontario is maintained by the Trillium Gift of Life program.  They maintain a publicly accessible list that tells you how many people in Ontario are on the waiting list for organs at a time.  At time of writing this, there are 235 people in Ontario waiting for a liver transplant (both adults and children).  You can check the current number of people on the list here.

Sunday, October 2, 2011

This Past Week

This past week was jam packed full with appointments. 

On Monday, I saw my internist, who made an appt for me for the day before induction to have a PICC line inserted in me since they will be taking blood/monitoring me every 4 -6 hours starting when I go in labour until 36 hours after I deliver.  Since the PICC line has both an in/out valve it will also be used to give me one of the two IV's that will be used during labour.  One is a drug for the baby, called Ammunol.  The thought is that by giving it to me, it will go through the placenta and go to the baby, bringing down any potential high ammonia levels at birth.  The second IV will be one of glucose for me, in order to keep my body regulated, give me calories, and not have my ammonia levels rise during labour and delivery. 

I also saw my dietitian.  A couple weeks ago I was prescribed citrulline, which is an amino acid, for the very first time.  I cannot manage to take the full dose of it...so after contacting the doctors, they said to 1/2 or 1/4 the dose just to get some in.  Citrulline helps with the process of properly turning the ammonia into urea, which with OTC the body often does not properly do.  My levels were extremely low.  I can only manage to take about a 1/4 of the dose they prescribed without immediately throwing up.  After reporting this, I have now also been prescribed arginine, another amino acid that helps convert into citrulline.  I will pick this up from the Sick Kids pharmacy tomorrow.

These aren't your normal supplements you can pick up at any drug store, and I feel fortunate that they are financially covered since they are quite expensive.

My third appt on Monday was with metabolic genetics at Sick Kids, who wanted to go over the plan for baby in more detail with me that day.  I also met with the genetic counsellor there, who was great.

At the metabolics clinic I ran into the other mom who has a baby with OTC as well.  I had met her a few weeks ago.  As of Monday baby was doing well at home, but this weekend I got a quick message that they found a liver for the baby!  As you probably know, a liver transplant is the "cure" for the OTC deficiency.  I'm assuming it is a cadaveric liver, and I'm also assuming that the baby is in surgery getting transplant this weekend.  I could be wrong.  I'm looking forward to hearing the updates.  Baby is currently 4 months old.  Perhaps I'll run into her again when I'm back at Sick Kids tomorrow.

I also had appts on Wed and Thurs, and instead of doing a ridiculous 2.5-3 hour drive back home in rush hour, only to do it back again the next morning, we took our daughter out of school for those days, and stayed overnight in a hotel.

On Wed, I met with anaesthesiology, which was a waste of time.  The other doctors involved really wanted me to to meet with them as a "just in case" scenario.  I've had two normal births without drugs in the past, and don't expect to need them this time.  Doctor was confused as to why I was there.  I told him it was as a "just in case" that the other doctors wanted me to meet with him.  Quick appt.  Yes, my back is fine for an epidural if needed, and my throat is fine if I needed to be intubated in an emergency.  Um. Great.

We also met with Mount Sinai's neo-natal department, which was a really good meeting.  (It made up for the one with anaesthesia!)  Very respectful, they will allow us to take time with baby without being rushed immediately after birth in order to hold, and take pictures.  In case Sick Kids PICU does not have any rooms available, they have ordered all the meds for baby on Mount Sinai's side as well, and will look after him in NICU until a room becomes available across the road.  When a room becomes available, they will be in charge of transporting baby from one hospital to the other (through the underground tunnel).

Then we met with our nurse co-ordinator who is great.  She has put all the stuff that needs to be done into a document for the nurses who will be in labour and delivery.  She liked the fact that the book our daughter had with her was HER very favorite book series from when she was a teenager. :)

On Wed afternoon after all these appts, we headed out to venture the subway.  It's been at least 15 years since I've been on Toronto subway!  We went to the ROM which has free admission Wed afternoons from 3:30 to 5:30pm.  You'd have to spend a month of going during their free admission times to see half of what is there!

On Thursday I had an ultrasound and met with my obstetrician.  Baby is measuring at 4lbs 13oz, although I take that measurement with a grain of salt, since I had an u/s the morning my daughter was born, and they said she'd be between 7.5 and 8 lbs, and she was only 6lbs 6oz.  They base the "weight" on length of bones...  My babies are long, but thin/skinny, and aren't as chubby as most babies...therefore less weight.  Still...at this point I've gained 3 lbs, and baby himself weighs more than that.

Tomorrow we head back yet again, to meet with the liver transplant team at Sick Kids, as well as the social worker from liver transplant.  We've met with them once before, but tomorrow they will go through the official surgical risks discussion with us, in case a liver becomes available really quickly while I am in the hospital.  This way it is done.  The social worker is our contact to get approval into Ronald McDonald House.  You can't get in at all without a recommendation from a social worker.  We'll see if she can help us out with finding funding for anything else too, eg travel and food expenses, or after school child care costs for our daughter since I will be in Toronto. Child care alone is an extra $300/month that we wouldn't have otherwise incurred, and staying at Ronald McDonald House is not free either...it runs $450/month ($15/day). 

Wednesday, September 7, 2011

Baby's Blood Type is B!!

We've been waiting prenatally to see what baby's blood type is in order to be able to plan a bit ahead for the needed liver transplant.

Baby's blood type is B!!  You might ask why I'm excited to hear this.  We knew that the blood type would be either O or B, based on the blood types of myself and my husband.  It was a 50/50 chance either way.  Here are the statistics on why this is good news. (The +/- factor has no influence on liver donations, and the lab report didn't specify +/- anyway.)

In Canada, 46% of the population have an O blood type (39% O+, 7% O-).

In Canada, 9% of the population have a B blood type (7.6% B+, 1.4% B-).

Being B, he can receive a liver from someone who is either O, or B blood types.  It slightly raises the number of potential people that he can receive a liver from than if he was O, since O can only receive a liver from another O.

From the opposite perpective, someone who is a B blood type, can only give to someone who is B or AB (AB is a total of 3% of Canada's population), whereas O can give to anyone.  So if a B blood type liver became available, there are less people that it can be given to...only B or AB blood types.

The fact that baby is a B blood type slightly lowers the waiting time involved for receiving a cadaver liver than if he was an O blood type.


Ok, so I know that most people won't be nearly as excited about this piece of info as I am, but it's a step in the right direction for us! 

If you happen to be interested in applying to be a donor, let me know, and I'll send you more information.

Sunday, September 4, 2011

Past Week & Meeting an OTC Affected Baby

This past week I havn't done a whole lot!  I did go to Toronto on Monday for appt's though.  I met with my internist at the clinic, which was new for me since I normally go see her in her office.  I had a resident come see me first, who immediately flipped out at seeing me drinking a can of Coke.  "How much caffeine is in that!!??", she briskly asked, grabbing the can.  I looked at her confusedly, "I don't know...it doesn't really matter, the dietitian wants me to drink it!"  "What's your blood pressure?", she asked next.  "Um...REALLY low." "We'll see."

So she goes to take my blood pressure, and I'm realizing she hasn't looked at my chart at all, and is making assumptions about my case...  Apparently most of the people they see are there because their blood pressure is skyrocket high or because of edema and swelling.  So she takes my blood pressure, and the result is a "whopping" 102/64. "Oh. It is low.  You can drink it." Um, yeah.  That's what I told you!  I also had to keep repeating information to her.  When she went to write anything on my chart, it was not what I had said...she was getting everything wrong.  I had to keep correcting her. 

Anyways, out of all the people I've seen, this resident was the first that was not fabulous, and I probably will never have to see her again anyway.

So I still havn't gained any weight overall...I'm slightly below what I started the pregnancy at.  Baby however is measuring average according to ultrasounds which is good.  I have another ultrasound coming up this week.

Our fabulous geneticist took my husband aside during an appt, and told him to make sure to let him know when I moved to Toronto before the baby was born so that they could make sure to help keep me entertained when I was down there.  Isn't that nice??

On a really interesting note, my appt's are typically never on Mondays, but this past week it was because the internist had been on holidays the week before.  I normally go see her when I'm there for other appts, but since she was away, they booked me in for the Monday instead.  As I was waiting for her, I got a Facebook message via my phone (aren't smartphones FABULOUS??), from someone who I'd had a small amount of contact with over the past couple weeks. 

This person thought they had messaged me previously, but when they went to look if I had responded, realized they had never pressed send.  Oops!  Luckily I got her message anyway.  They were at Sick Kids that day for a clinic appt, and was I around that day too?  I was so thrilled to meet this lady, her mom and her lovely 3 mos old baby boy.  You see, the baby also has OTC.  They did NOT know prenatally, it turns out she is not even a carrier, it was just a random mutation for the baby.  But fortunately she delivered at Mount Sinai since she lives close to it, and when baby got sick at 2 days old, the doctors recognized what it was, tested ammonia levels, and were able to immediately send baby across the road to be treated!!  Baby was put on dialysis, ammonia levels were brought down, and they were able to treat baby by feeding him the special low protein formulas that our baby will also use.  Baby spent a month in the hospital, but is now home, and doing well.  No G tube, no NG tube.  Takes all the formula (which looks like just normal formula...I'd never seen it before so I didn't know if it would look "normal" or not) by bottle!  They go to clinic once a week to test ammonia levels and have the metabolic team decide if they need to adjust the amount of medicine or not...  It pretty much constantly needs to be adjusted due to growth of the baby.

I have to think that it was partially caught because the doctors at Mount Sinai knew about my case, and some had even seen the symptoms displayed when our last baby got sick with OTC.  And when baby was being treated at Sick Kids, it would have been around the same time that metabolic genetics was starting to look into potential treatment options for me too, while we were still waiting for the final genetic results.  If she had delivered anywhere else in Ontario, it probably would not have been caught as early.  I'm am SO glad for this family that a doctor recognized it and that the baby was able to be treated so quickly!!

This baby now looks nice and healthy and happy and is at home. :)  They are also on the waiting list for a liver transplant in order to cure the OTC, but both parents have the same blood type as baby, and since baby is getting bigger already it helps out that 15:1 weight ratio that I have talked about.  Both parents are going to be tested as potential donors.  Since baby is stable, they are being encouraged to wait until baby reaches at least 6 months before transplant so that baby is a bit bigger.

I have been told that our mutation of the OTC is a much more severe variety than theirs, meaning treatments might not work as well, but meeting this family has encouraged me.

Saturday, August 27, 2011

How to Become a Living Liver Donor

I've had a few people ask me what the process is to be tested to be a donor for our baby's needed liver transplant due to his genetic condition of Ornithine Transcarbamylase Deficiency.  I had posted a little bit about our meeting with the transplant team earlier, but not the actual application process.

If you are interested in being a potential donor, you must be either O blood type, or possibly B blood type. Positive/negative doesn't matter.  We are currently waiting on results to find out whether baby's blood type is O or B.  If you are O, you can be a donor no matter what blood type the baby is.  If baby turns out to be B blood type, then B blood types can also be donors.

For other info, see the same link as above...Meeting With The Transplant Team.  You will see that currently they would really only consider people under 150lbs.  However, if you are bigger than this, and are still interested, please keep the thought...  If baby grows well after birth, and passes the 10lbs mark, then that raises the maximum weight limit for the donor. You could even submit your application in the meantime, and they would probably keep it on hold until baby reaches a bigger weight.

This is a link to the Liver Donation Manual.  There are a few things in it that don't apply to our situation - like the fact that normally they don't look at potential donors until the person is on the transplant list.  Since baby will be on the list immediately after birth, they are looking at the possibilities of screening donors now.  It's a very detailed document about the procedure!

Finally, here is a link to the Donor Health History Application Form. Where it asks for the recipients name, we are using "Baby Boy Babcock" for now, and he will be at Sick Kids. If you need any more info let me know, and I'll give you the number for the living donor transplant co-ordinator at Toronto General Hospital who looks after all this, and answers questions for those considering the process. 

Thursday, August 18, 2011

Living in Toronto Before Baby is Born

I had a call from one of my doctors yesterday to talk to me about my "labour and delivery plan".  As you probably know I had already said I do not want a planned c-section, due to a few different reasons.  The doctors are even more paranoid than I am about my not delivering in Toronto.  I had been planning on going down a few days before my due date as a just in case.  My four primary doctors (obstetrician, internist, adult metabolic geneticist and pediatric metabolic geneticist) between three different hospitals (Mount Sinai, Toronto General, and Toronto Sick Kids) have come up with a plan that they wanted to know if I would agree to.

Since it is imperative that I deliver in Toronto for the sake of the baby and getting the baby the medical assistance required immediately after birth, (an extra couple hours DOES make a big difference medically in this case), they want to absolutely ensure that I deliver in Toronto.  They would like me to be within the GTA starting at week 37 (3 weeks before due date).  Starting at week 38, they want me in the downtown core close fairly close to the hospital.  I don't need to be in the hospital or on bedrest, so they are looking at finding funding for me to stay at a hotel in the area during that time.  I will have to meet with social work to find out more about funding.

So...I need to think of who I know that I can stay with for week 37 in the GTA!  I will also need to put together a collection of books/movies for the time in Toronto.  I like Toronto, but the thought of being there by myself without anything specific to do for potentially a few weeks is a little overwhelming!  If I get a room with two beds at least maybe I can have friends come visit for a night.  My husband and daughter could come on weekends too.

If you have any suggestions of how I should fill my time, let me know!  Just don't say shopping...I don't want to be spending a lot of money!

Thursday, August 4, 2011

Testing Baby's Blood Type via Amniotic Fluid, and Other Stuff

After meeting with the transplant team a couple weeks ago, one of the big pieces of missing info was "What blood type is the baby?"  By knowing the blood type definitively, it helps the process along by knowing who can and who can't be a donor.  If we know ahead of time, they can put baby on the transplant list probably as soon as I'm in labor, or right at birth.  It also helps potential donors know if they would qualify or not.

I knew they had taken extra amniotic fluid as a just in case measure when I had my amnio done back in June.  I mentioned this to the transplant team as a potential source of information for blood typing, and that I would have genetics look into whether blood typing could be done in this way.

It took some research, but it can be done!  Sick Kids has found a lab somewhere in New York that will process the extra amniotic fluid to find out the blood type definitively.  I think this is pretty cool on a theoretical, scientific, research basis.  I need to fax back the consent forms later today.

A couple days ago, I had more appt's in Toronto, and afterwards I met with Angela, mom of Baby Bronson.  He just had a liver transplant a week and a half before, for completely different reasons than why we are, but it was nice to talk with someone about the liver transplant experience in and of itself.  Her baby is looking really well, and was moved out of (Pediatric) ICU later that day.  I had a little tour of the PICU floor, which is where we will be spending time after baby is born.  

At this point, I have no more medical appt's booked for another 3 weeks, unless something pops up.  I think this is the longest time without appt's since the very beginning of the pregnancy.  I will go down for a social visit with my mom and aunts one day in between though, as they will be heading down to Toronto from Northern Ontario to participate in the Longitudinal Study for Urea Cycle Disorders that we are all a part of.

On complete other topics, our house is really quiet this week.  We dropped our daughter off at overnight camp for the first time.  She is 9.  And she was super excited to go!  But the house seems really strange without her here.

Thursday, July 21, 2011

Liver Transplant Team Meeting Results

Today we met with the liver transplant team at Sick Kids, and learned the following.

1) The surgeon has no conditions on minimum age or weight.  As soon as a liver is available, either cadaver liver or living donor liver, he will do the surgery.  This was probably the most surprising piece of information for us, since we assumed there would be a minimum age/weight or both.  He said if we had a living donor ready the day baby was born, he would perform the surgery that day.

A living donor is someone (related or unrelated) who donates (via surgery) a part of their liver to be transplanted.  The donor's liver regenerates and grows back into a full liver...it's the only organ that will regenerate.  Pretty cool, eh?

2) Having a living donor for the day of the birth is nearly impossible because they do a maximum of a 15:1 weight ratio for donor to baby.  My previous two pregnancies have resulted in babies that were less than 6.5 lbs.  At 6.5 lbs for baby, the adult donor (18 years old or older) would have to weigh a maximum of 6.5 lbs * 15 = 98lbs!!

However, it is possible (but doubtful!) I would have a bigger baby, and also possible that baby will grow after birth.  With this in mind, here are some potential weights of baby vs weights of potential donor.

Baby weight  = Maximum Donor Weight
6.5 lbs = max donor weight of 98 lbs
8 lbs =    max donor weight of 120 lbs
10 lbs =  max donor weight of 150 lbs

3) Living donor would also have to match blood types with the baby. We know based on our own bloodtypes that the baby will either be B or O blood type.  The +/- part doesn't matter for liver transplant.  We will try to find out which one baby is before he is born.

If baby is O, then donor must be O blood type.
If baby is B, then donor can be either B or O blood type.

4) Sick Kids typically does 20-25 liver transplants each year, but this year the numbers have been much higher.  They are currently working on transplant number 22 for the year, and it is still July.  Approximately half of the transplants are via living donor, and the other half are from cadaver livers.

5) Approximately three transplants have been done over the last 2 years for urea cycle disorders (of which OTC is one of six), but all were for babies that were diagnosed after birth.

6)  This is the first time they have had a liver transplant in the planning stages before the baby is born.  Typically only heart transplants are prenatally known to be needed after birth.

7)  As soon as baby is born, he will go on the transplant list to receive a cadaver liver.  Wait times to receive a liver can never be guaranteed.  The hope is that baby can survive long enough to receive one using the medical treatment that the metabolic genetics team has come up with, as stated in my previous post The Treatment Plan (click here).

I'm sure I've probably missed some info in here.  If there is anything I missed that you would like to know, ask, and I'll answer!

Sunday, July 10, 2011

The Treatment Plan

We had a long meeting this week with metabolic genetics. We were not originally sure if the hospital would be willing to treat baby's OTC (ornithine transcarbamylase deficiency) or not.  I wouldn't have been surprised if they had said "Sorry, but this is beyond the scope of our abilities."

However, they are optimistic (much more so than we are) that they can treat baby.  It requires a LOT of work, and co-ordination between numerous departments of a number of different hospitals.  Since I know we have many people interested in how this will work, I will try to outline what we know so far.  We will know more specific details later, as we have not yet met with the transplant team, and they will answer many questions regarding transplant at that point.

1) Ideally the doctors would have me deliver by planned c-section, so that they will be ready and prepared for us and baby with a known time of arrival, but I have decided against this for a combination of reasons.  It's surgery and I've never had surgery before.  The surgery itself could potentially make ME sick with my body and OTC reacting to the stress of the surgery.  But mostly, I've decided to deliver naturally because it's the one thing in this whole process I can keep "normal", and I need that one piece of normality!

2) When I'm in labour, I will be given a drug called Ammonul by IV which will reduce the ammonia in my bloodstream.  The theoretical thought is that the drug will also pass through to the baby, helping the baby to have lower ammonia levels after birth as well, since the birth process itself is hard on baby and breaks down protein turning it into the dangerous ammonia. Medical literature says this has only been done once, but we suspect it may have been done more often than this.

3) Once baby is born, he will immediately be given an IV with a 10% glucose solution in order to give him calories so that protein isn't broken down.

4) After this, I'm guessing within an hour of birth, baby will be taken across the road from Mount Sinai Hospital to Toronto Sick Kids Hospital.  NICU is not set up for this situation, so baby will go straight to Pediatric ICU (PICU).  The "tube" team (I don't remember what they are actually called!) will put tubing into baby to be ready for dialysis.  Baby will most likely be on dialysis 24/7 most of the time.  Baby will also be put on a strict, medical diet of a special formula made up of amino acids and sugars.  Ammonia levels will be monitored constantly.  The hope is that baby will eat by mouth, but if not, baby will be fed through an NG tube (yes, more tubing) 

5) It's really important to keep a balance between calories needed for growth and formula given so that baby isn't taking in protein, or breaking down his own protein.  If this happens, ammonia can build up, which would cause brain damage.  This is why ammonia is constantly measured, and if it goes high, dialysis will be started.

6) Using the above methods, we hope that baby does ok and grows well in the meantime.  Everyday holds potential unknowns, and we have been told to expect baby to take 4-5 weeks to become stable.

7) If baby needs some extra help during this time, it looks like I will be flown down to Pittsburgh with baby for an experimental clinical trial where healthy liver cells will be injected into baby's liver daily for a week.  This is a very controversial cell therapy trial, that just opened in the last couple months, and they are looking at having 20 children in the trial over a period of 5 years.

8) All of the above is being done in order to keep baby alive long enough to have a liver transplant.  We will be meeting with the liver transplant team soon and have many more answers after this meeting.  Once a liver transplant occurs, there is no more risk of brain damage from elevated ammonia levels, and baby can begin eating foods that contain protein.  How long we have to wait after birth until a transplant can be performed will be known after we meet with them, as well as how long baby will be kept in hospital after the liver transplant.  I'll update on all the transplant issues after we meet with that team.

We aren't feeling overly optimistic about this, probably because we've been through the death of a baby from this genetic issue already, but with the advances that have been made since then in the last 8 years, we are willing to try for treatment.

Thursday, June 30, 2011

Fetal Echo Cardiogram

The fetal echo cardiogram on Tuesday at Sick Kids went fine.  No problems at all.  So that's good news.  The medical fellow who did the ultrasound was 16 weeks pregnant with twins...can you imagine how hard it would be for her to have to tell people that things aren't good with the heart while she's pregnant herself?  A tough spot to be in.

So we're glad that went well, because if it hadn't, we're pretty sure that the possibility of using any treatment options/end results liver transplant would have been eliminated.

On another note, I've been looking for blogs from anyone who has documented their time in treating a baby with OTC.  I havn't managed to find any.  I have found a few blogs that talk about treating their children with other urea cycle disorders (of which OTC - ornithine transcarbamylase deficiency is one of six urea cycle disorders, and the most common of the six). 

Even though it's not exactly the same (but similar) I found Katie who posts about her experiences with her daughter (who will be 1 in August), who has another urea cycle disorder called Carbamoyl Phosphate Synthetase 1 (short form is CPS-1).  They had a liver transplant done at 4 months of age, and she has many posts about the reality of the disorder and the reality of life after transplant.

In case you are interested in taking a look at her blog, it is at:
http://from-magerks-to-i-dos.blogspot.com/

Tuesday, June 28, 2011

Not What We Were Hoping For

The genetic results are finally in, but unfortunately they are not what we were hoping for.  We received a call after business hours on Wednesday evening from the head of genetic and prenatal diagnosis to give us the news.  He had just received the results (by Blackberry!) from the Yale lab.  It's an OTC affected boy. AGAIN. Crap.

The doctor who called wasn't even in Toronto when he called... he was in Ottawa at a conference for a few days.  He asked if he could share the news with the other doctors and counsellors that we deal with, and we said yes.

We had appointments already booked for the next day (Thursday).  I had my 20 week ultrasound, and an appointment with my internist and OB.  All the appointments went late due to the genetic results. 

The hospital had just done a teaching case about our situation that morning to the residents and doctors, so many of the people I saw that day said "We just had a teaching about OTC today."  I said that I knew (it had been planned for a few weeks), and that it was because of me, the only OTC (ornithine transcarbamylase deficiency) case they have.  Of course, when it was planned, the results were not in yet, and my OB had just received the results that morning (via his Blackberry!), which resulted in more teaching regarding the affected baby and choices we would make.

Our doctors at Mount Sinai are fabulous, and make it clear that all final decisions regarding care/treatment etc. are up to us.  They respect the fact that we are well versed in our diagnosis, and have respect for our decisions.

So, in the meantime we now have appointments booked with Toronto Sick Kids metabolic genetics department to go over progresses in any potential treatment options since the last time we went through this 8 years ago. 

I also have an appointment with Sick Kids tomorrow for a fetal echo cardiogram, because just in case we didn't have enough to deal with, they found a slight potential problem with the heart during our biophysical ultrasound last week.  Even though OB thinks it is probably fine, we are being treated with white gloves and he is sending us for this specialized ultrasound now.  If ONLY the heart issue was the only thing we had to deal with instead of the OTC!

Monday, June 20, 2011

Still Waiting on Genetic Results from Yale

I'm still waiting, and more than a little peeved/aggravated about it.  Last time we went through this (8 years ago) we knew (the bad) conclusive results 13 days after the amnio. 

It's now been 3 weeks, and no word.

The difference (I think) is that OHIP is trying to save money, which I somewhat understand, as the testing is extremely expensive.  Last time the fluid went straight to Yale, and they grew the cells there and did the analysis.  This time, they grew the cells in Toronto first and then sent the cultured cells to Yale.  I suspect that Toronto is not as skilled in this as Yale is, and it has taken longer.

I checked in on Thursday and apparently Yale had only received the cells the day before. GRRR.  I don't know how long it takes for them to analyze them, but plan on asking my genetic counsellor.

My genetic counsellor was away last week, so I had been talking to another counsellor, who had no idea how long it would take. Mine is supposedly back today, but I have called and her voicemail hasn't changed yet from saying she's away until today.

We're trying to just "go on" with life at this point while we're waiting.  I'm trying to put on a good face, but I don't think I'm succeeding very well at it!

Thankfully today was my once a month cleaning lady, so at least the house is in better shape! 

On the bright side, I *think* we may have come up with a name, but it's not 100% yet.

My 20 week u/s is on Thursday.

I'd like to find out one way or another so that I can plan either way.  The emotional strain of waiting leaves me very physically tired.  Once we know, I can either plan on taking a sick leave either through work (not sure if it would be granted since they deal with an external agency for leaves now) or through EI, or actually start planning for baby to arrive by planning, shopping, pricing items, etc.

Wednesday, June 1, 2011

50/50 Chances

My amnio was on Monday.  My own OB performed it this time, and it was a much better experience than I've had in the past.  He was super quick at doing it, and it didn't hurt as much as previously, and there was no cramping involved.

I had to somewhat laugh at the post-care instructions...bedrest not required, but no working, lifting, carrying, bending, laundry, dishes or exertion for two days.  Um...so what does that leave?

We were expecting to get results today (Wed) but got partial results yesterday instead. 

It's a boy.  With being affected with OTC Deficiency (and X linked disorder) this now means that our chances of a healthy baby have dropped from 1 in 4 to 1 in 2.  The 25% chance of baby being affected has now been raised to 50%.  One in two.  50/50 odds.  The odds suck.

I had been hoping to hear it was a girl so that we could shed our worries.  I admit to crying when I found out. I'm glad for the info, but now our concerns have been raised.

For those who don't know our history, baby being affected = baby not living for more than a few days after birth. 

We've already "been there, done that".  I don't feel like doing it again!  In 2003 our son Colin was affected, and died 3 days after birth.  I had found out at 18 weeks pregnant with him that he was affected.  It was a brutal time for us...

For now, we need to wait for the full genetic analysis.  They can't even do it here in Canada, they have to ship the cells from the amnio down to Yale in the States to be examined.  We should have the results in 2-3 weeks.  That time is going to be a terrible waiting period.

In the meantime we're waiting, family is waiting and friends are waiting for the news.  Many of them were with us the first time around and watched us go through everything that time.  We have many, many people rooting for us that baby will be ok.  I sure hope so, because I'm afraid of the mental basketcase I will become if he's not.

I also feel a little bit like an "untouchable"...people don't know what to do or say, so it just gets avoided in many cases.  I also feel like we are getting talked about by people, which is probably true, mostly out of true concern for us, but I am fairly private person all in all (even though most people would think of both my husband and I as extroverted!) so it feels a little weird to feel like my life is on a very public display.  I don't want to be pitied...I just want people to say "It's completely crappy that you are going through this, and I hope/pray that all ends up good."  It's that verbal/written acknowledgment of the situation itself that I personally appreciate.

Overall, despite the 50/50 situation, I am still optimistic that we will have a healthy child (boy!).

Sunday, April 24, 2011

Taking Inventory of Baby Gear 10 Years Later

I've started to take inventory of my baby gear.  This means I'm hopeful all will go well with this pregnancy.  75% chance that it will.  We'll know full results approximately two weeks after my amnio, which is on June 1st.

By January, I will have a 10 year old daughter and a 2 mos old baby.  That's a big time span between kids!  People have started asking me what I will need, so I've started to take a generic inventory.

I have:

A recalled crib with no mattress.
A broken changetable from lending it out.
An exersaucer with toys missing from it.
A highchair.
A few baby girl clothes.
A couple baby blankets.
Nothing else!

The only reason I have clothes is because I've continually lent mine out over the years to people.  They have gone through over a dozen children since my daughter, and many had been handed down to me in the first place.  Each time I get them back, I go through them, and toss anything really dated or overly used/stained/no longer looking in good condition.  But many of the people I've lent them out to have added in pieces from their own collection, knowing that I pass them around.  One girl just passed all of her baby clothes into the box, because very sadly her husband left her after the baby was born.  I don't think anything I have at this point is what I started with!

Somewhere I have cloth diapers with a friend.  I just don't remember who I lent them to anymore!  I think they are with one of three people...I'll have to ask around to see if they are still out there, and if there is any life left in them at this point.

The one thing I never had that I'd like to try is some sort of sling/baby carrier.  Ok, I did have one, but it was a ridiculous Fisher Price model that didn't fit my busty curves!  Does anyone have any suggestions for a sling/carrier that will work for a busty girl?  Or anyone who will custom make one that will work for me, that I can get on/off by myself without taking an hour?  I really don't know much about these, but they look super cute/comfy on women when I see them out and about...  Maybe I can start going up to random people and asking about them when I see them being worn!  (Too creepy??)

I had no maternity clothes left...  I had lent them out and after a few pregnancies were not in great condition.  I do have a few maternity t-shirts still lent out, but I'm not sure if they are still wearable or not.  I bought some bigger stretchy jeans for the meantime since I've outgrown mine, and last week I lucked out at Value Village, finding 3 really nice pairs of Thyme Maternity pants for $8.00 a pair.  Thankyou random person in my perfect size for donating them there!!

I also just ordered a couple Panache (my normal brand of bras) nursing bras.  It's hard enough to find bras to fit, let alone nursing bras!  Panache is a great brand from the UK that goes up to a K cup!! I also need to order a couple normal bras over the next while because it seems that I've already gone up a cup size (the LAST thing I need!!)

So other than the maternity clothes...it looks like I will still need a fair bit of stuff.  If you need a review done for baby items/maternity items, I'd be happy to!  I'm feeling a little behind the times since it's been so long since my last child!

I've also been asked if anyone will be throwing me a baby shower.  I'm thinking it's a little early to even think about that, but do people even *have* baby showers for a second child?

Friday, April 22, 2011

Pregnancy Week 12

I had my ultrasound and all looked good!  I was really nervous going in, (because I miscarried my last pregnancy), but I could hear the machine going beep, beep, as she was doing measurements and I knew all was ok.  Then the ultrasound tech started giggling, and she said "Only two months, and baby is already moving everywhere!"

I had to wait a while for my report, and it showed that I was actually measuring a few days bigger than I would be by my period date.  Not really a surprise to me.  So, by ultrasound, my due date is 11-11-11.  November 11th, 2011, aka Remembrance Day.

Everyone now knows...we phoned all four sets of parents (both our parents are divorced and remarried), and told our friends.  DD age 9 was really happy to be able to let the secret out, and has been telling everyone she possibly can since!

I have another ultrasound scheduled for May 6th.  It will be the NT ultrasound, and my amniocentesis date is booked for June 1st.  Apparently we should know gender a couple days after the amnio, and full genetic results to find out if baby is affected by OTC within a couple of weeks.

Monday, March 28, 2011

Pregnancy Week 8

I'm in week 8 of my pregnancy.  Still here, no issues so far.  Phew.

I'm a big mess of nerves though.

We still aren't telling, although our daughter does know and can't wait until we can tell the secret.

I will feel safe telling people once my first ultrasound is done.  It is in 2 weeks and one day.  But I really hate the job of telling people, so I might delegate it to hubby and my daughter.

I'm thinking it won't really be a surprise to people who have seen me recently, since I'm already starting to get looks from people, but no one is daring enough to ask, since that would be a complete social faux pas if it didn't turn out to be true!!  My normal pants are now too tight, and I've upgraded into some major stretchy jeans.  Not officially maternity pants, but they will work for a while.

The lovely morning sickness has begun, which I keep telling myself is a good sign, but I really, really hate throwing up!!  With previous pregnancies I've thrown up nearly every day from 6 or 8 weeks until the day I delivered.  Blech.  It makes me not want to eat at all, which isn't ideal either.

I would like to read a pregnancy book (or a few).  The last time I read one was 10 years ago when I was pregnant with my daughter.  Does anyone have a more recent book to recommend?

Friday, March 11, 2011

Quite the week!

So, first of all, I'm writing for mostly myself.  I'm kind of hoping that no-one I know in real life will read this for at least another month.  So if you know me, please keep this a secret!!

One week ago today, on a Friday, I took a pregnancy test, and it was...POSITIVE.  That was three days before my period was due, but I suspected, because the weekend before I slept, and slept, and slept.  I slept for 14 hours each night, when I normally only get about 7 or 8 hours of sleep.

So...due to my being a genetic mutant, being a carrier of ornithine transcarbamalase deficiency, (OTC Defiency for short),  Link to older post describing otc deficiency, my first step past telling my husband was to phone my genetic friends at Mount Sinai in Toronto.

The last time I dealt with Mount Sinai was in 2003, which is when my son who was affected by this genetic disease, was born and died three days later.  I had known during the pregnancy that this was the case - we had an amnio done at 16 weeks and the results were in at 18 weeks. There is a 25% chance that it could be an affected boy again (which would die a few days after birth), 25% chance for a carrier girl which means watching diet very carefully, and a 50% chance that everything will be fine.  I'm hoping for the last one. :)

I phoned my genetic counselor at Mount Sinai, but she is no longer there.  I got a hold of the secretary, who told me I needed a referral because it has been more than two years since I've been there.  But, but, if you just go get my chart you'll see that it's really, really thick, and I *shouldn't* need a referral I was thinking.

Fine.  I phone my family doctor, hoping to get a referral from him.  Apparently he's not back in the office until APRIL.  Not much help to me.  I got a hold of the front desk of the practice who told me I should use the after hours clinic to get a referral.  Getting into the after hours clinic (we have no real after hours clinics here), is like getting into a radio telephone contest.  Nearly impossible.  With that, plus the fact that it's not the ideal place for a referral, I set about another route for my referral.

I'm involved in a longitudinal study for Urea Cycle Disorders (of which OTC is one), and I had just been contacted about a follow up visit a year and a half after my first visit.  This is being done at Sick Kids, right across the road from Mount Sinai, so I asked if they could refer me.  Within 24 hrs, referral was complete and I had a phone call from Dr. Chitayat's office.  Dr. Chitayat is the most amazing doctor and he is the head of Genetics and Pre-Natal Diagnosis at Mount Sinai.  He is brilliant, nice, and compassionate. 

So, on April 12th at 9 weeks and 1 day according to LMP, I will go to Sick Kids in the morning for my followup visit for the longitudinal study, grab lunch, and then head across the road to the Hydro Building where Mount Sinai houses their high risk clinics, prenatal ultrasound and genetics departments for a dating ultrasound and then a chat with genetics.

I'm feeling a little weird about telling people, and am pretty sure I'm going to wait until after this first ultrasound to ensure the pregnancy is viable.  I've had a miscarriage in the past, at 9 weeks, but apparently the baby stopped growing around 5 or 6 weeks.  It will mean an almost 10 year age difference between my daughter and this baby, and I'm pretty sure at this point people aren't expecting us to have another child due to our traumatic loss of our son Colin and the amount of time that has since passed.

I'm feeling optimistic/good about everything this time around though.  Last time I knew from the start that it wasn't going to work out well.  So put us in your thoughts/prayers anyway though!