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Chaz

Advice:

To kids – you deserve validation of having the disease; you may not have gotten it from parents/siblings at first (my brother, sister always said I was “faking”.  But once existence of disease in your body is confirmed, take satisfaction in knowing that you were right – something WAS wrong.

To “adults” – put yourself in the position of making the rules when dealing with medical personal, particularly MD’s.  YOU tell them what it is you expect from your relationship w/them (access, reports, information, etc.).  If they don’t agree, get another MD.  Provide them with as much information as you can without causing overload.  Make sure they are willing to take the time research the disease.  Make sure your primary care physician and nephrologist know each other and stay in contact about you.  Don’t take any sh*t from anybody – you’re worth better.  But remember you get what you give.  If at all possible, if you’re still working, sign on for disability insurance during the next open enrollment and use it – don’t fall into the trap of being locked into your job with false loyalty based on your benefits.  Consider establishing a relationship with a therapist – they can help.  And don’t avoid that Vitamin P (prozac) if a prescription is suggested.  Above all, keep and use a sense of humor as much as you can, especially about yourself.  It’s okay if nobody but you gets your jokes; they’ll still make you laugh and that’s the important thing.  Eat an apple every day, get to bed by three, take good care of yourself – you belong to you before anybody else.

Symptoms:

Classic physical symptoms since childhood, not diagnosed until mid-70’s.  Went for work-up @ Mt. Sanai/NY w/Desnick, Eng 8/89.  Onset of kidney failure late ’89, peritoneal dialysis 9/90.  Went on transplant waiting list @ U. of Miami-Jackson Memorial Hosp. 11/90, transplant 4/91.  Current medical problems include enlargement of heart wall, mitral valve prolapse, murmur, loss of hearing in right ear, reduced hearing left ear, constant tinnitus both ears.  Still get “attacks” of pain, now much less often, though intensity still same as before transplant, primarily in hands, arms – leg pain reduced from before.  Severity still same.  Treat pain w/doses of Vicodin or Lortab, plus something to help during the 45 mins. to hour it takes for same to kick in.  Emotionally, can’t say if own individual brand of insanity was brought on, added to or affected or not by having disease, but sure it didn’t help.

Goals:

Forget first or second place – I just wanna achieve my personal best.

Martin

About Me:

Married to a wonderful wife, we have two grown up sons one is a Chef and the other still at University. I have a piece of paper that says I am an Accounting Technician ( resting at the moment though ! )

Advice:

Make the most of the good days , is how I think .

Symptoms:

Had a stroke at 35, been looking for the cause ever since. My estranged sister died back in 2008, when the connection was made!

At the time I was going downhill without knowing why. My heart is badly scarred, kidneys not too bad. Been told today that my left leg has no veins below the knee and an Artery is blocked. When I can’t stand the pain any longer ……

Tamara

About Me:

I am a 31 year old female clinically diagnosed, as having full-blown Fabry’s Disease. I have been dealing with the painful symptoms of Fabry’s as long as I can remember. My mother remembers taking me in to the hospital for emergency pain medication as early as my grade school years. During my childhood and teen years, I also had horrible vomitting and diarhea spells, as well as frequent fatigue and fevers. It seems like I have been in and out of hospitals my entire life.

I was at least lucky enough to know that my father had Fabry’s Disease, which made diagnosis much easier than the trouble most folks experience who don’t know of their family history. However, the thinking at the time was that women were only mildly symptomatic carriers, so even with a known family history of the disease, I was still misdiagnosed for years with things such as “Bulimia”, “hiatal hernia”, etc. and so on. My father died at the age of 36 of pnuemonia, following a successful kidney transplant in 1972. His mother also died in her late 30’s, of “nephritis” (of course, Fabry’s was unknown at this time). My sister is also a highly symptomatic female with Fabry’s, and has also been diagnosed as a full-fledged case, as opposed to a carrier.

Advice:

Cheer up!!

Also, do what ever you can to try to keep your mind off of your illness. I know it’s hard, but concentrating on how lousy you feel all the time will do nothing but make things worse. Laughter IS one of the best medicines. Spend as much time with family and friends as you possibly can. Be as knowledgeable as you can about your disease. You know better than anyone how you feel and what is going on with your body. Research and bring in materials from the web or the library to educate your doctors. Many of them know far less about Fabry’s than you do. And remember to take your meds every day!!

Symptoms:

I recently had my case reviewed and several new findings were diagnosed, which is why I decided to up-date my bio. Just two years ago when I went back to NIH in Bethesda, many of my current symptoms were not found at the time. Now that I have entered my 30’s, it seems the disease has been rapidly and progressively attacking my nervous system over the last few years. I have also begun to have some kidney involvement.

Amanda

About Me:

I am mother to a wonderful 5 year old daughter Bryonna and have an amazing husband named Kenny. Fabry has been in our family to as far back as I can remember. My grandmother passed about at an early age, then my mother passed away when I was 16 years old, my uncle then passed , my aunt is 57 with Fabry and my uncle also struggles everyday with the horrible disease. About a year ago my sister and I decided we wanted to know if it was possible for either of us to be what we thought at the time was ” just a carrier.” Then the more we read we found out there really shouldn’t be a term as carrier for this HORRIBLE disease. Just recently we have found out my sister is free and clear and I have the disease.

Symptoms:

No symptoms that I know of yet