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.
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.
we are praying for a great outcome and a healthy baby boy this time!
ReplyDeleteDonna and Ian
Quick question (or comment rather) - it was my understanding that baby does not need dialysis for treatment when you know ahead of time and medications/special formula is used immediately after birth. Maybe this is different for OTC babies because mom's ammonia might be higher? Not sure!
ReplyDeleteHi Kate! They will be setting baby up for dialysis even with the meds/formula, since particularly at the beginning the dosages are a bit of a guess based on weight and how baby reacts to the meds, and then as baby gains weight the meds will need to be adjusted as well. With our specific mutation of OTC, the ammonia levels can jump really quickly...our last baby wasn't visibly sick until hour 40, and died in 12 hours.
ReplyDeleteThey will be taking ammonia levels very regularly (every hour?) for the first while. They really are trying to not take any chances either, since this will be the first urea cycle baby they will be treating right from birth, so it's an aggressive treatment plan.