New here, 12 year old with other medical problems dx'ed with ADL
I'm here searching for information. My 12 year old son, Ryan, was dx'ed with ADL. This was a surprise for us. Ryan has Loeys-Dietz syndrome, a connective tissue disorder, and has had several major surgeries, including heart valve replacement. In mid Nov he had spinal fusion and we almost lost him in the ICU after surgery, his blood pressure dropped to almost nothing. It was discovered that he had a cortisol level of 0.23, almost nil. He is now on replacement hydrocortisone, in searching for what caused this they tested his long chain fatty acids, now because they are elevated and the adrenal issues they made the diagnosis of ADL. I'm having a very hard time accepting that fact that he has 2 rare genetic disorders. He was dx'ed with severe dyslexia, and possibly ADD. He does have alternating estropia and related vision issues, but those are thought to be related to the Loeys Dietz. They did do a brain MRI while he was in the ICU looking for a bleed, upon review they said he does have some minor white matter changes, he also has very twisted arteries in his brain from the Loeys Dietz, but no real symptoms of ALD yet.
We are seeing a metabolic specialist at Childrens Hospital in Boston MA in jan, and he is being scheduled to see a neurologist also. I'm just at a loss as to what comes next, they did say he seems to be presenting a mild form, but what happens from here? I have 2 older boys, one with spina bifida that they will be testing also, they are 14 and 18 and have no signs or symptoms.
Lisa
Posted By: Tonivr
Posted On: Dec 17, 2008 7:14 pm
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Re: New here, 12 year old with other medical problems dx'ed with ADL
Have you looked at the united leukodystrophy foundation web site, there is a section that comes under the heading of "you are not alone"? From what I have seen there is more communication between the members on these issues and maybe some helpful information.
Posted By: sjm
Posted On: Dec 17, 2008 11:59 pm
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