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!
7 comments:
Anna has only had an ultrasould for her lump she had removed last year, never to check her organs.... I 'll have to ask her doctors. thanks for posting!
Thank you, Leslie. Maybe the ultrasound is mainly a European approach! - So at yr clinic they also make examination of liver by feeling size?
Yes, tapping her tummy and pokeing/proding (hubby's words :-) )...actually I think they did do an ultrasound on our first visit at childrens when Anna was a few weeks old, so long ago now and it was so hectic that first visit I can't remember clearly...but none since
Interesting. You know what I really wonder is why the Europeans conduct ultrasounds and docs here do not. There must be a reason why they do it, just like they urge the parents to have the kids eat aged cheeses b/c of the calcium. It is so frustrating to me that there is no clear line....
Hi. I live in Canberra, Australia and my 2 year old son has Galactosemia .
We visit his metobolic doctor twice a year (we have to travel interstate, as there are no specalists here in Canberra). These visits involve a basic physical examination - height, weight etc, his doctor also 'pokes/prods'his stomach, and a chat about his development. We also speak to the metabolic dietian each visit. We have never had an ultraslound.
We take a blood sample every 3 months.
I too would love there to be clear line around exactly what he can and can't eat. Our dietian has told us they are currently doing a review of the levels in cheese so hopefully soon we will have a much better understanding of excactly how much and which cheese he can safely eat.
It's great to hear from you :) - Very intersting. It sounds like your metabolic clinic uses the same approach as ours here in PDX. Until last year we had bi-annual visits for both girls. Do you also see the ophthalmologist?
In regards to diet, the European's (Germany/Switzerland/Austria) no longer adhere to the Acosta diet. It is my understanding that in addition to products containing milk sugar the only other foods they exclude are organ meats. Both of our girls have been eating parmigiano regiano for over a year now w/o any increase in level. My Italian friend has told me that the other "allowed" cheeses include Emmenthaler, Gouda, and Gruyzer. But I don't know as to how much, etc. We would love to introduce those cheeses also to our girlies.
Greetings from Oregon
Beate
Hi, I hope you don't mind me posting here but I found this site as I was searching for Galactosemia. I am a 33 year old female from Ontario Canada, I live a normal, otherwise healthy life. I have had one Child and he is healthy and Non Galactosemic. If you have any questions please feel free to ask! I can be reached via facebook at: Stacy A. Taylor-Le Roux or via email at: stacyleroux@gmail.com
(No e in the email, just stacy), thanks!
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