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@cinderali

Hi, Im a 67 year old female suffering from extreme chronic pain that began at age 48. Almost 20 years in & my life being stollen by what was diagnosed as extremely rare case of fibro. Although have all symptoms of MS even lesions on my brain, optic neuritis, periphreal neuropathy, had emergency gallbladder surgery that I live in so much pain didnt realize I had it until I threw up bile went to er and they took tests & told me my gallbladder was gangrenous & in 24 hours I would have died from sepsis if I hadn't gone to er when I did. Surgeon could not understand how I did not know how ill I was due to fact this was over a long time period to e gangrenous as well as would have caused unbarable pain! He was perplexed literally! At 66 I had a heart attack, I have gastrointestinal issues, osteopenia, ulcers, colitis, hernia, just found out I have cataracts on n on ... I come from a family of seven children. I am the only one that has all these health issues out of the long list I do, the others do not have any !? Drs because of drug addicted kids as you all know have been threatened by the cdc & dea to stop kids from overdosing & with that drs stopped treating chronic pain med patients! Since then I have been suffering beyond imagination, I have no ability to live or semblance of normal life. At 48 I went from cant stop me to almost 20 years of If I want to shower I have to be afraid what pain my body will cause me for any & all physical movements. I am a prisoner in my own body. Ive seen a multitude of every specialist & beyond testing of every sort. I have grand babies now that I hardly see my illness & suffering has grown worse over time. I want to have a full genome sequencing , to check for rare diseases because my body is killing me organ by organ. I need help from Drs I know I cannot afford but I also believe those Drs would correctly diagnose me as well as most probably save my life so I can live whats left of it now at soon to be 68. I read about a rare disease that made my jaw drop because it was as if it was describing me & my ill health in every way. Hence wanting the full genome testing. Its called, Neurofibromitosis it has three types the name of the one I think may be my actual health issue is Schwannomattosis . When I read about it it was as if I was describing my issues 100%. Its a very rare disease of genetic defect cause & inheritance. It was a fluke thing that I even stumbled upon it. Anyone know of a reputable, Full genome sequencing lab in south Pa.?

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Replies to "Hi, Im a 67 year old female suffering from extreme chronic pain that began at age..."

Have you tried one of the diagnostic clinics such as Mayo, Cleveland Clinic or even one in Houston?

Hi @cinderali -- It sounds like you're really suffering. My heart goes out to you.

When my son and I had genetic testing for a couple rare neuro disorders, a local neurologist ordered the tests and they were sent off to a specialty lab in another state that did the test. So the lab doesn't have to be local. In one case, the doctor had the lab contact me, they sent me a kit with a swab and I sent it back to them. Do you have a local neurologist that could order the appropriate test for neurofibromitosis or any other suspected disorder? The insurance company will likely only cover it with a doctor's prescription. If paying out of pocket, your doctor may be able to tell you which companies are reputable and will cover everything you're looking for. My son and I also had testing for cancer mutations, drug enzymes, and cardio mutations, but the testing "Color Genomics" offered did not include the neuro tests we specifically had previously. The neuro tests were pricey when we had them and only one lab in the US that performed them at that time. Ambry Genetics is the lab my oncologist used for my genetic cancer testing, but I see on their website ambrygen.com that they also test for neurodevelopmental disorders and rare diseases. Athena Diagnostics was the company for a neuro genetic test my son had 20 years ago. Looks like they are still in business. I hope this is helpful. Hoping the best for you.