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 Pastores at NYU School of Medicine (Neurogenetics). After 7 months of constant worsening, I can only hope we're close to diagnosis and treatment.

Here are the symptoms that have brought us to this point:

Splenomegaly

Possible Early Stage Cirrhosis (Normal Liver Function, but Focal Fatty Infiltration w/o alcohol involvement)

Non-Herpatic Mouth Ulcers

Leukopenia

Thrombocytopenia

Immunoglobulin A Deficiency

Immunoglobulin G Deficiency

Costochondritis

Muscle/Joint Inflammation

Abdominal Pain

Epileptic and Non-Epileptic Seizures

Narcolepsy

Intermittent Fever

Small Pulmonary Nodules

Unidentified Splenic Nodules

Circumferentially Thickened Bladder Wall

Psychiatric Symptoms

Unsteady Gait

Pending Tests:

Acid Sphingomyelinase Enzyme Assay

X-Ray of Chest, Spine and Femurs

NPC1 and NPC2 Gene Sequence Analysis

CESD Skin Fibroblast

Updated CBC W/ Differential

Ashkenazi Jewish Genetic Panel

Whole Exome Sequencing

I'm told I may now need a cane. For God's sake, I'm 21 years old! I'm a junior in college! This cannot be happening to me. I'm so lost and so hurt. This has completely destroyed my relationship with my mother and my family provides next to no emotional support. They're in complete denial and then rubbing it in my face. I can't keep going at the level I am for much longer. How in the world do I survive??? How did any of you handle this period. Help!!!!!!

-Jay

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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 Disease was. When we didn't find a lot of information for this disease, I joined other rare disease groups, just to feel like I "belonged" somewhere. Please know that you have two amazing doctors that know more about CESD than most doctors. And know that you have a strong support team here at LALSolace. We truly care about what you are going through. We have been there or have experienced it through our children. I am so sorry you are having to go through all of this. I know it seems like there is no end in sight with all of the testing, but hang in there and we will help you any way we can. Mary

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; Niemann-Pick Disease Type C, Cholesteryl Ester Storage Disease and Schindler's Disease.

About to scream from worsening symptoms, no diagnosis, no treatment, no understanding from people my age and very little familial support. When will this end?!

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. 

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

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