I don't know about you, but we love our metabolic physician. He knows Galactosemia, answers all questions with confidence, and does not ever leave us with a feeling of helplessness but gives us confidence. He is honest, experienced, has done research on Galactosemia and just great at what he does. Well, he is also the man who tracked us down on a Thanksgiving Friday six years ago when Alena's Newbornscreen came back. He was available to talk with us on the phone the entire weekend :) Truth be said other metabolic disorders are certainly much more exciting to researches but that is OK and it does not reflect the treatment of our girls. However, what I find frustrating is the different approach every single clinic takes on the follow-up on people with Galactosemia. Ophthalmology Screens, identification of genotype, blood draws on a quarterly, or even monthly basis, several ultrasounds of organs a year, etc. For us it is a bi-annual blood draw, annual ophthalmology screen (which BTW I need to schedule ASAP), and an annual visit to the metabolic clinic. So at times it makes me wonder whether our girls should get more "face time" with the physicians. One thing I especially wonder about is whether the ultrasounds of the organs are superior to the manual checking. That is really and truly the only thing which makes me a tiny bit uneasy. I agree with our physician that genotype ID is not necessary. It does not change the diagnosis or management; true it give additional information but how useful is it? It is interesting but I do not see the use. Frequent blood draws in my opinion are definitively essential in the infancy and toddler stage. For us our kids are older, levels have been great so there is no doubt that the bi-annually draw is sufficient. But the only thing I wonder is whether there should be ultrasounds? Is there a substantial benefit to the ultrasound vs. the manual exam? Then again, I am not physician...
I am very curious to hear if there are clinics in the United States which include ultrasounds in the examination. I know that Austria, Italy, and Germany do. What do you think about this? Does the examination at your clinic include ultrasounds? I love to hear from you...
Truth be said, that I probably over think this - but I cannot help but wonder. So please, do not get me wrong as I said above we are completely happy with our metabolic physician. I just wonder whether ultrasounds should be conducted. We certainly rely on his professional opinion, I am just curious. And no, I am not changing my thoughts on Galactosemia. It is a completely manageable disorder, it is part of our life and does not rule our life. The glass is always, always, half full never half empty. So if you have read this entire post...thank you! Have a great day!
