A Fabry disease story
Feb 17, 2016
I am the only person in my family to have Fabrys. I was diagnosed by my optician. It's ice to have a name to this disease as I have lived with it since I was 5 years of age. I have a mutant gene, so Fabrys starts with me and ends with me. I'm under the Royal Free, Barts and Heart hospital and the staff at these hospitals are the most wonderful people I've every meet. I have just started ERT and the Health care at home nurses are wonderful people.
Hi RA bel,
i am struggling though usually very optimistic. I have been bed ridden and wheelchair bound for about three years now. I have many neurological symptoms, small fibre neuropathy, brain lesions, left ventricular hypertrophy, other heart issues, blood pressure problems, toiletry issues and severe pain. Etc.
i had the aGal tests done. One came back at 6.3 and a few weeks later the second came back at 3.6 with a range from 3 to 20 I believe...so, I was told low which is unusual in women?
anyway, this led them to do the DNA test and I had to wait three agonising months for the results. I was told they don't have a genetic code on the database for me.
i am wondering if that is similar to your situation? A mutant gene being responsible?
they have since done further more specialised tests but I won't get the results for another four I the. Meanwhile, I am having to attend the emergency department every coupl of weeks for pain crisis.
any help regarding the reasons why the DNA test might come back with no code would be much appreciated...as would how they establish a firm diagnosis without that code.
i am very symptomatic and very very unwell.....kind of giving in to it now....xxx
