Thankfully, Klaw's VLCAD deficiency has been well managed through diet & supplements and our primary geneticist, Dr. Proud, did not see a reason to visit with Dr. Vockley any earlier.
First of all, it took three people, but we finally got a head measurement for Klaw. This has been a bit of an issue for the past, oh, year. He is currently in the ~75%ile all the way around in height, weight, & head circumference. (35" tall & 29.5lbs)
Dr. Vockley does believe we dodged a bullet by the early diagnosis & intervention through the expanded newborn screening in Virginia. VLCAD deficiency can involve the heart, liver, & muscle tissue. Infants who are not diagnosed early are at a high risk of death during the first year of life.
Klaw's blood sugar is well-controlled. Even with the illnesses we've been able to manage at home, his caloric intake has remained high enough to prevent hypoglycemia, which is always a concern during any illness. Our biggest day to day concern now is preventing rhabdomyolysis, which is when the body destroys muscle tissue. The dangers of rhabdomyolysis are not as acute as low blood sugar, but there are many long-term issues if he has multiple episodes over the course of time. Again, we are trying to stay one step ahead of the game with his diet.
Naturally, Chris asked about how this will affect Klaw's participation in sports as he gets older (he's still hoping for that Cubs gig...). Dr. Vockley assured us he has many older adolescent patients with VLCADD who are active in a variety of sports. We'll just have to be vigilant about keeping Klaw hydrated & ingesting calories. Basically, while everyone else is drinking water or watered down gatorade...Klaw will be drinking the stuff straight because he'll have a higher need for sugar & electrolytes.
There is a new database/research registry being formed at the Children's Hospital of Pittsburgh, so Chris & I elected to have Klaw's records submitted. It's not directly tied to his identity; each case file is given a number. However, if the information can help people learn more about VLCADD, it is worth it.
Dr. Vockley was very pleased with Klaw's progress so far and future visits with him are at our discretion.
