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Well, we finally got to meet with Dr. Vockley at the Children's Hospital of Pittsburgh. He confirmed a lot of what Dr. Proud has been doing with us and also gave us some more information. A lot of information...a lot to process...a lot to try & share in a blog entry! I apologize if this posting is rather bland and very long, but I promise I'm doing my best to make it interesting.
First of all, Dr. Vockley considers it a very good sign that we've only had 2 hospitalizations so far. Klaw is doing very well with his health & growth/development - more good signs. If Klaw continues on this path, Dr. Vockley does not foresee any reason Klaw will have to avoid sports or other activities with proper precautions (staying hydrated, keeping his caloric intake up & not ignoring ANY symptoms). Yes, this is a big deal in our household!!!
He thinks Klaw will most likely fall into the "moderate" category of VLCADD. "Moderate" is not exactly the best term to describe it, but it's the easiest way for me to describe it. All variations (infant-onset, child-onset, adult-onset) are serious. There is controversy within the FOD community in using terms like "mild," "moderate," or "severe" due to the concern someone described as having "mild" VLCADD will not be taken seriously when in or on the verge of a metabolic crisis. The way I understand it is that it has more to do with the onset of symptoms, the threshold until metabolic crisis, and the frequency of certain symptoms appearing within each variation (e.g. cardiomyopathy is seen most frequently in infant-onset VLCADD) - all variations are serious & should be treated as such. Basically, from what I understand, Klaw will hopefully not turn out to have the infant-onset VLCADD, which will most likely mean he won't have to worry about additional heart problems. We are currently treating Klaw as if he does have the infant-onset variation because his blood levels were so out of whack when he was born & we will continue to do so as long as Dr. Proud feels it's prudent.
Dr. Vockley suggested that we start testing Klaw's blood sugar so we can find out how long he can safely go without eating (e.g. first thing in the morning for a few days, each time with a slightly longer period between feedings). He does not recommend testing every day from here on out - just to get a baseline for him to use as another guide to help us decide when to take him to the hospital when he is sick. They gave us a copy of their VLCADD ER protocol letter that clearly/emphatically states Klaw "is at risk of SUDDEN DEATH" if they don't follow protocol. We've had some issues with the CHKD ER not moving fast enough with the protocol, so he also gave us a few tips. Calling the geneticist on-call while en route will give them the opportunity to contact the ER and get the ball rolling on the d10 fluids. If the d10 bag is not ready, they need to put Klaw on d5 asap until it is read (see "at risk of SUDDEN DEATH" to understand why).
In addition to meeting with Dr. Vockley, I was able to meet with one of their genetic counselors and a dietitian (we have both here, also, but it's always good to speak to more professionals!). Klaw's bloodwork shows that he is absorbing the essential fatty acids in his Monogen formula, so there is no need to supplement EFAs at this time. We may have to once he has transitioned to solid foods. The food discussion led to another area of diet that is currently in flux within the VLCADD community. There is some thought that VLCADD patients may not need to be limited to a strict 10% fat intake diet...fat intake up to 40% may be safe under certain conditions. Obviously, a diet with 40% fat is going to be a lot easier to maintain and a LOT tastier than a diet with only 10% fat. Right now, it's not an issue for Klaw since his main source of nutrition is his formula.
Another interesting thing is that carrying a child with VLCADD can cause problems with the mother during the pregnancy. Yep, my ridiculous "morning" sickness that lasted until I birthed Klaw, could have been due to his VLCADD. It may have been totally unrelated; there's no way to find out after the fact. However, if I ever decide to get pregnant again and I'm as sick as I was with Klaw, I'll need to have my liver enzymes checked to make sure my health is not being compromised.
I'm pretty excited about the fact that now that Klaw is in the system with Dr. Vockley, we will be on the "list" for new treatments & studies, should he qualify for any of them. Dr. Vockley did tell me about some studies on certain supplements they are trying to get funding for but he didn't think Klaw would qualify since he seems to be doing so well with our current treatment plan. He said that they tend to take a conservative approach with treatment of VLCADD since everything is so new & fairly experimental. He would also like to see Klaw again by the time he turns two.
I am really glad timing worked out for us to be able to make it to Pittsburgh and I am really grateful that CHP was able to work us into an appointment so quickly. There is still so much to learn about VLCADD and I am glad Klaw will have the opportunity to help the medical community learn more about this disorder.
