Palm Trees & Dragonfly Dreams

I have kept this news close to me because it hurts but I have yet to fully to process it...... I now want to share with you all some not so good news. As many of our fans themselves deal with a RARE of their own they may be familiar with the group "Unique" out of the UK. it is a great group and very informative. They have families from all over the globe register their RARE chromosomes and it's a great way to find other families that share the same issues. (I am not a spokesperson for them...) That being said, as was suggested quite a few times  I too send in our info, in the hopes that we may finally connect with SOMEONE. ANYONE. that has POMC. they ask for the basic info which I sent, as well as a picture of the Goober-fish. this is the first e-mail I got back: Dear Karen Many thanks for your email and telling me about Nathaniel – including the gorgeous photo! If at all possible, would you be able to send a copy of his lab report? Or copy ou...

Allelic variants.0001 PROOPIOMELANOCORTIN DEFICIENCY POMC, GLU79TER In a 3-year-old German girl with early-onset obesity, adrenal insufficiency due to ACTH deficiency, and red hair (609734), Krude etal. (1998) identified compound heterozygosity for 2 mutations in exon 3of the POMC gene. A 7013G-T transversion in the paternal allele resulted in a glu79-to-ter (G79X) substitution. Truncation of the POMC protein atcodon 79 predicted complete absence of ACTH, alpha-MSH, andbeta-endorphin, encoded further downstream. In the maternal allele, a1-bp deletion (nucleotide 7133) caused a frame shift predicted to disrupt the structure of the receptor-binding core motif of ACTH and alpha-MSHand introduced a premature termination at codon 131. Compound heterozygosity for these 2 mutations was found not only in the proband,the second-born daughter of the family, but also in the first-born son who died at 7 months of age of hepatic failure following severe cholestasis...