Below is the response from Dr. Marzieh Salehi, one of the few doctors in the world experienced with Allgrove Syndrome. This is one of the diseases Bertrand is being tested for. She mentioned testing for a fasting cortisol and running an ACTH stimulation test (neither of which we've done), after which (if results are consistent with Allgrove) we can move to genetic testing.
Keep in mind Allgrove (a.k.a. Triple A Syndrome) is rare. Let's put it this way, when I first researched it, the wikipedia entry was one line. It's a long shot that B would have it. Allgrove was first described in 1978, but since then, according to Dr. Salehi, there are maybe 80 reported cases in the world. (Although, many likely die before ever getting diagnosed.) So, yeah, it's rare.
Dear Ms. Might,
Dr. Poretsky forwarded your e-mail to me to respond. I’m afraid that I would not be able to help much given the lack of experience with the pediatric population affected with this condition as well as lack of knowledge with non-endocrinological aspects of this disease. There are not many people who know about this condition as the total number of cases reported in the world is about 70-80, so the most expertise regarding diagnosis and management generally comes from Neuromuscular Clinics. We collaborated with Dr. Henry Houlden from London, UK. for genetic testing in our case and I know that Dr. Felicia Axelrod, who is running a dysautonomia clinic at NYU, New York, has an extensive experience with these patients, so she will be a good source of information.
Your son has the key features suggesting the diagnosis of Allgrove Syndrome as you pointed out, however, he does not have to have all the features together, cases with tear abnormality or achalasia without any other problems have been well described and adrenal insufficiency may never been developed or come late (not until 20s and 30s of age). Based on what you mentioned it is reasonable to start with something more than fasting levels of cortisol; perhaps, ACTH stimulation test (high dose and low dose) that could be monitored every 6-12 months depending on general status.
Best regards,
Marzieh Salehi, M.D.
Division of Endocrinology, Diabetes and Metabolism
University of Cincinnati, College of Medicine
The Vontz Center for Molecular Studies
Cristy this all makes sense, Bertrand might have Allgrove and if is discovered it might be thanks to your peresistence and knowledge. I hope the test can be done to find out soon. Good luck. Tell Bertrand abita loves him and give him a soft kiss from me.
ReplyDeleteAll my love,
Mami
Did you ever get this test done? Do you know what it entails? I set up an appointment to have a histimine test for Ava. Seemed cheap and easy. If it flares, not autonomic if it doesn't flare autonomic. Then I would have something other than the debatable (in their minds) lack of tears. Very cool to get this doc to write to you. (I came across this while once again researching alacrima. sigh.)
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