CanadianCindyB

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

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, an

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 ammon

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 ove

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 l

 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 a

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

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 p

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. 

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 ye

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&

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 w

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 b

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

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 1