Today has definitely been one of those days. What we thought we knew and what actually is seems to be two separate things. The doctor went back and looked at Kadian's genetic sequencing. She only has one of the 2 genes that Lauren has. The doctor said to wait a couple months and they will be able to look at all 54 FAO genes to see if she has a 2nd gene that is VLCAD or MCAD which is causing the Trifunctional Protein deficient. So we have to wait longer to see if she actually has a fatty acid disorder or she is just a carrier that proves, with blood work, that it is possible to be a carrier with symptoms. This is so frustrating.
We also found out today that Sean has a new lesion on his spine. This means that he has had 2 separate episodes of lesions. The doctor said he is pretty certain that he has MS but he has atypical symptoms. The girls disorder makes him question maybe that it maybe a disorder called Adrenomyeloneuropathy. This disorder has do with an elevation in very chain fatty acids. The doctor order a blood test to see if his are elevated. This disorder can cause spinal cord lesions. The doctor is also sending him to Bethesda,Maryland for further testing. I just wish for once things were normal. Definitely been a hard day!!!
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{{{hugs}}}
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