At the NIH we met with doctors Stratakis, Rennert and Raygada (and about 16 of their students), who are all associated with the genomics section. After a throrough evaluation of Bertrand and his records, they believe he has either Schinzel-Geidion Syndrome or Male Rett Syndrome. I disagree.
Symptomatically, Bertrand is best matched by Male Rett Syndrome. However, this is highly unlikely since he has a normal XY chromosome. Rett Syndrome is a female disease--so most male patients have an abnormal XX chromosome. Furthermore, Bertrand is alive. Male Rett patients typically die in utero or shortly after birth. They would rarely live past two.
Schinzel-Geidion Syndrome is a terminal neurodegenerative disease in which patients also typically do not live past age two. Again, Bertrand is still alive and stable. Furthermore, despite being told by the NIH that Bertrand has midface retraction and that his features appear coarse, I believe that he simply looks like me. :) You be the judge. Does this look like Bertrand?
Frontal view of an infant with Schinzel-Giedion midface retraction Syndrome. Lateral views of an infant with Schinzel-Giedion midface retraction Syndrome.
I didn't think either of those sounded like Bertrand either. I think and hope you're right. You and Matt are doing such an amazing job being advocates for B, and he's such a fighter. I would love to see him prove everyone wrong. -Lynn
ReplyDeleteMy son is 7.5yo and could have passed for that little baby in the pictures. My son doesn't have either of the diseases mentioned, although he has epilepsy, neurological issues and global delays {all with unknown cause(s)}.
ReplyDeleteI also hope that your ds has neither of those diseases either.
Has Bertrand been tested for MECP2 mutations or duplications? MECP2 is the gene that is connected to Rett Syndrome. While it is rare for boys to have Rett Syndrome, it does happen. And not all boys die in the first few years. I know of adult men with MECP2 mutations. If he has not been tested, I would ask for the test. As you know Rett Syndrome is a very serious disorder - I have a daughter with the disorder so I do not make the suggestion lightly about testing your son. There is, however, some encouraging news. In 2007 it was shown that Rett Syndrome is reversible in a pre-clinical models. For more information visit www.reverserett.org
ReplyDeleteBest wishes for your little boy.
Hi there
ReplyDeleteI stumbled across your blog while doing research on SGS today. My daughter Sofie aged 18 months has Schinzel Giedion syndrome, and I most certainly agree that to me Bertrand does not look at all like he has SGS. As soon as we were shown photos of other SGS babies by our geneticist, I knew instantly that is what our daughter had.
Bertrand looks like a gorgeous little guy. All the best for the future and I hope you get a diagnosis soon.
Hi, As the Mum of a Schinzel-Giedion Angel i can honestly say that your little man does not have this syndrome and I dont know why drs would have even brought that syndrome up as he doest have any of the looks of a SGS baby. I hope you get an answer soon and all the best for you all.
ReplyDelete