Already five weeks ago I started this blog, but time just never allowed me to complete it. So, hopefully I can get it done today.
On April 14 Rob and I made a trip back to SickKids - the first time we’ve been back since James passed away … and I had hope the last, but I’m now told if we want copies of James’ medical records we will have to go back to do that!
We had a meeting with James’ Lung Specialist to go over his autopsy results. The trip went well, bringing back a lot of memories, but all in all it was okay. We did not go to the Ward or near the ICU, the places where the most memories remain. Although James had some really good nurses, we did not create a large enough bond with any of them to warrant putting ourselves through a visit to these places.
The autopsy results did not provide any new information that would have changed the way we had treated James. At the same time there were a few interesting things that they did find. All in all it came back as they would have expected.
The most amazing piece of information we got from the results is that when looking at James’ stomach and intestines the results read “unremarkable”. In doctors language this does not mean amazing or wonderful, but it means that there was nothing worth remarking about as they appeared normal (which in itself is amazing and wonderful). We knew that they had just looked at James’ stomach when they did the last Whole Lung Lavage and at that time did not see anything out of the ordinary. The part that amazed us the most was that his intestines were “normal” for James had been deemed to have colitis (inflammation of the bowel), never mind the fact that he had been struggling to get over C.Diff during his hospital stay, a bacteria common to patients with colitis. Colitis is a very broad term used whenever there is inflammation in the bowel and they cannot come to a precise diagnosis (like Chron’s Disease or Irritable Bowel Syndrome).
But yet the autopsy claims he did not have colitis. A sign of colitis is that you have mucas in your stools, and when it is quite bad you also have blood. At 20 months they did a colonoscopy of James’ small intestine, at which time they concluded that he had colitis. Biopsies were sent away but they could not come to any conclusion as to what caused James’ colitis and so they deemed it to be related to his LPI and likely from having too much protein as this was only shortly after he was diagnosed.
What conclusion can we make from this information? It would appear that James did have colitis at one point as the colonscopy and biopsies show this. Likely this colitis was due to having too much protein in his system. Once he was put on a proper diet his bowels were able to recuperate from this (similar to when you or I have a flu and diarrhea with mucas; or for someone who has an allergy that reacts with mucas in stools until the irritability is taken away). There may have been the occasional time when this inflammation flared up again, such as when we did a formula change that his system didn’t like. But all in all his bowels recuperated and he did not have full-fledge out of control colitis as we thought he did.
Why did we think James had colitis?? Mucas, mucas and more mucas. James diapers were always full of mucas. It went up and down, sometimes just streaks of mucas, other times all mucas and no poop. We tried all kinds of things, struggling to figure out why we couldn’t get his colitis under control and what was in his diet that was irritating him so much. Based on the autopsy we come to the conclusion that James had colitis which he recuperated from with a proper diet and the mucas that we continued to see in his diapers (as well as draw out of his stomach when venting him) was not bowel irritation but was all coming from his poor overfilled lungs. And to be honest we cannot be sure that it came directly from his lungs. It is very well possible that his whole body was effected by the LPI PAP and mucas was being overproduced in various areas of his body. So although James lungs suffered the most, this was an issue that was spread throughout his entire body.
For us this was the most interesting piece of information, information that would have helped us a bit in our dietary treatment. We were limited on diet with James as it was, so we were often stressed about what we were missing that was causing all this mucas. Had we known that the mucas was not actually colitis we would have been able to stop worrying about what we were feeding him and instead focus our worries on where this was all coming from and how we could help it. In the end there is no answer, but the more time we had to work with the puzzle pieces the more valuable research time we would have had.
The other item the autopsy noted was that James had a calcification buildup by his brain stem (I believe that’s what she called it … the report says in the basal ganglia). This buildup was not effecting him, but is a type of buildup that is often found in patients with Parkinson’s Disease (a movement disorder that often effects a persons motor and speech skills). James had no signs or symptoms of Parkinson’s Disease and we have no idea whether this buildup would have ever developed into something of that assort. We do know that it shows his body was not able to properly breakdown certain items … all part of his genetic disorder (LPI).
James also showed indications of osteoporosis. They cannot say whether this is part of his LPI, as osteoporosis is an LPI issue, or whether it is an ICU issue as he spent three week immobile and had already lost muscle tone, especially in his legs.
While we were there we signed a consent to have another specific DNA test done. The doctors would like to test whether James might have some form of another rare lung disorder called ABCA3, which is a wide ranging lung disorder that is often fatal. In recent years they have been able to find the DNA chain for this lung disorder and are now able to test for it. This disease also has to do with surfactant problems in the lungs (James lungs were unable to break down the surfactant). They do not believe that James had full-fledge ABCA3 as we know that he definitely had PAP, but they would like to look into whether he has any small form of this which might explain the excessive surfactant and lipid issues in his lungs.
Over the next few days the American Thoracic Society (ATS) Conference is taking place in Toronto (May 16 to 21). According to their website: “The ATS International Conference is the most prestigious scientific meeting devoted to the presentation and discussion of new research findings and the latest clinical developments in respiratory, critical care and sleep medicine”. Our Lung Specialist advised us that they will be presenting James’ case at this Conference. James’ case will be presented by one of the Fellows who worked with/on him while we were there. It will be reviewed/discussed by one of the leading chILD (Children’s Interstital Lung Disease) doctors who I have read much about in my recent findings of the chILD Foundation. In itself it is amazing to know that this is happening, even more so when she told us that usually they have 1000’s of people apply to have their case discussed … and of those James’ was chosen. The most important aspect of this is simply that it will create awareness among doctors. It will of course also give way for ideas when you have a whole room full of doctors whose expertise is in this area.
It is a comfort for us to know that although James is no longer with us, the research to find answers continues as much as is possible so that the next child will have a better opportunity to overcome these diseases. As we watch and hear the doctors work we pray that an answer may come, but at the same time we realize that it is the Lord who is in control, and only in His good-timing will the answers be revealed, and this also means we may never receive the answers we pray for - for some things are just beyond our human comprehension.
"I know that everything God does will endure forever; nothing can be added to it and nothing taken from it. God does it so that men will revere Him." Ecc 3:14