"Hi Jay, I am just wriring to check in on you. Has the bad weather affected the tests you were supposed to get? Please keep in touch! Mary"
LAL Solace Patient Community
LAL Deficiency (Lysosomal Acid Lipase Disease) & Wolman Disease patient support
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Jay Rosenthal
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- Garden City, New York
- United States
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Jay Rosenthal's Discussions
CESD or not CESD?
Started this discussion. Last reply by Mary Pruitt Nov 11, 2012. 4 Replies 0 Likes
Hi everyone,Since April, I've been poked, prodded and passed from doctor to doctor like a game of hot potato in search of a diagnosis. Now, after being negative for HIV, Herpes, Infectious Diseases,…Continue
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Mary Pruitt replied to Jay Rosenthal's discussion CESD or not CESD?"Jay, I have just contacted three doctors about your situation. Hopefully we will hear back from at least one of them tonight. We will get you the CESD test ASAP! Please check your messages for more information. "
Jay Rosenthal replied to Jay Rosenthal's discussion CESD or not CESD?"Ashkenazi Jewish Genetic Panel: NEGATIVE
X-Rays: POSITIVE for pelvic bone malformation
Next Round of Tests: Neurological Scans for Neurological deterioration causing epilepsy, narcolepsy, Aspergers Syndrome, bipolar disorder and idiopathic ataxia;…"
"Hi Jay, welcome to website. I went through a similar process in being diagnosed with CESD. I was misdiagnosed with several other rare disorders before getting an accurate diagnosis from a pediatrician who specializes in genetics. …"
Mary Pruitt replied to Jay Rosenthal's discussion CESD or not CESD?"Jay, I am really really hoping that you get a diagnosis SOON. The key to keeping our insanity in check when Gage was diagnosed was to get as much information as possible. We searched endlessly for anyone anywhere who knew what Wolman's…"
Jay Rosenthal posted a discussionCESD or not CESD?
Hi everyone,Since April, I've been poked, prodded and passed from doctor to doctor like a game of hot potato in search of a diagnosis. Now, after being negative for HIV, Herpes, Infectious Diseases, Autoimmune Diseases, Wilson's Disease and being a carrier of Gaucher's Disease mutation N370S, We have two current suspects: Niemann-Pick Disease Types B or C and CESD.I am now being seen by two doctors: Pramod Mistry at Yale University School of Medicine (Hepatology/Gastroenterology) and Greg…See More
Profile Information
- What brings you to LAL Solace?
- Support, Other
- Do you or someone you know have a LAL Deficiciency Disease?
- Yes
- If yes, who is effected by LAL Deficiency?
- Other
Comment Wall (1 comment)
- At 8:18am on October 3, 2012,
Brett Billmeyer said…
Hi Jay, welcome to website. I went through a similar process in being diagnosed with CESD. I was misdiagnosed with several other rare disorders before getting an accurate diagnosis from a pediatrician who specializes in genetics. It has been about three years since I had received the news that I born with a rare genetic disorder that few knew a lot about. It is amazing the amount of research that has been done in the past three years about lysosomal acid lipase deficiency. I am currently participating in a clinical trial that has had a tremendous impact on my life. I would be happy to discuss in more detail the process that I went through in getting diagnosed with CESD and some of the very encouraging news that is out there for CESD.
