Genetic's

Well we got our appointment to discuss results (finally...LONG overdue) if you look back in my blog world I blogged about 'diagnosis' on March 26Th. I am going to relay what she said (she=Dr. Margot Van Allan) in the best way I can, alot of medical mumbo jumbo so I will skip some of that...

N = Negative
She = Dr. Margot Van Allan
CS = Costello Syndrome
CFC = Cardio-Facio-cutaneous Syndrome (Ashton's syndrome)

Ashton was tested for CS late last year for which he received N results. It was then put to the parents to test for CFC which we decided we should, even though it would take months, EVEN though the results would probably be N. SO after about 4 months the results came back and low and behold....da da da! POSITIVE! finally an answer...now skip ahead till NOW (as in today)
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MOLECULAR GENETICS REPORT
CFC Syndrome via BRAF, KRAS, MAP2K1, AND MAP2K2 Sequencing (these are the genes in which it lays)

SUMMARY OF RESULTS: POSITIVE

Results and Interpretations:
This patient is heterozygous in exon 3 of the MAP2K1 gene. This mutation has been reported to be causation for CFC.

We have also found two additional mutations in the reference sequences that are very UNLIKELY to be causation of CFC. Both differences are DNA polymorphisms.
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So there it is folks...the official diagnosis.

What else...what else, well she highly recommends we go forth with Growth Hormone treatment so we made an endocrine appointment while we were there. She also checked him for a tethered cord which could be why he is not yet walking...nada. We discussed behaviour and she believes his mood may be the result of low blood sugar (growth hormone can fix). He is being scheduled for a behavioral assessment soon anyhow. I asked her if she knows of any support groups and in fact there is one for parents of children with rare diseases. Once a month, I will call for more info...AND last but not least, school. There is a school that is apparently awesome!! but it costs 8,000/year for K-1 and 10,000/year for 1-4...yikes! but they offer SOME funding help. I am calling them tomorrow. I will stop typing now, so tired...bath time...