Rare Disease Day 2010

[minnieandmickeymouse]

I have Wegener's granulamatosis. It is a rare form of vasculitis. I was misdiagnosed at first and the disease destroyed my kidneys. I am on dialysis and a transplant list. It is estimated that Wegener's affects 1 in 30,000 people.

My Mom has this also.

 

[LunchladyDoris]

Hmm... interesting timing!

I actually found out TODAY here on the Dis that I have this rare condition called Dermographism. Whenever my skin is moist, I can "write" things in it... and where I wrote turns into red, itchy welts. I always thought I was crazy, but found out today that I am not! Apparently, it affects only 4% of people.

Have you been to a doctor for a proper diagnosis yet?

 

[crashbb]

It isn't exactly a disease, and certainly not to be identified with the challenges the others here are facing. Take a Zyrtec every morning. You'll be cured. Your skin is reactive because of allergy.

It is also not rare. At all. 13 682 687 in the US alone have dermagraphsim (using 4.5% and US census data from July 2008).

 

[Magic Mom]

Have you been to a doctor for a proper diagnosis yet?

She doesn't need one, the Dis diagnosed her. It's definite.

 

[Magic Mom]

My Mom has this also.

DH's godmother has it also, and it took them forever to diagnose it correctly.

 

[nmmom95]

My Mom has this also.

DH's godmother has it also, and it took them forever to diagnose it correctly.

I hope they are both doing well. It is hard to diagnose. I was in the hospital for 10 days and left not knowing what I had. I finally went to a larger hospital in Philadelphia and they were able to diagnose it. I went on chemo drugs, which helped put the disease into remission, but they were unable to save my kidneys.

 

[Inigo]

I think I have one - sarciodosis (totally spelled wrong). It is unsymptomatic, and was diagnosed after a routine chest xray, and a lung biopsy. Apparently, my lungs are totally scarred, and it can affect many of my organs. One "cool" aspect of it is that it is mentioned on House all of the time.

My niece has sarcadosis, and her diagnosis was the first time I'd ever heard of the disease.

 

[AKL_Megs]

She doesn't need one, the Dis diagnosed her. It's definite.

Can you even think of anything else it could possibly be? It's clear as day! Yeah, it's not a "rare disease", but the thread was coincidental, and so I posted it. Then people asked questions. Excuse me.

 

[Mermaid02]

I break out into hives in the cold. Not a "disease" but I do have to carry an epi pen and can not ski, snowmobile, sled, skate, make a snow fort, have a snowball fight etc. And I live in Maine. I need to move.

(((HUGS))) to everyone who's fighting the good fight!

 

[Magic Mom]

Can you even think of anything else it could possibly be? It's clear as day! Yeah, it's not a "rare disease", but the thread was coincidental, and so I posted it. Then people asked questions. Excuse me.

Well, not being a doctor, no I can't think of anything else. That's the point. We aren't doctors!

 

[Magic Mom]

I break out into hives in the cold. Not a "disease" but I do have to carry an epi pen and can not ski, snowmobile, sled, skate, make a snow fort, have a snowball fight etc. And I live in Maine. I need to move.

(((HUGS))) to everyone who's fighting the good fight!

My stepmom is like that. Even in the Florida summer she has to wear a turtleneck to the grocery store or she breaks out in enormous hives if she goes anywhere near the freezer case.

 

[AKL_Megs]

Well, not being a doctor, no I can't think of anything else. That's the point. We aren't doctors!

True that. But really, unlike ANY of the above mentioned "actual" diseases, my... whatever it is... doesn't affect my life, and a Dis diagnosis works for me!

Let's not talk about my skin anymore, I am sorry I brought it up!

 

[Magic Mom]

True that. But really, unlike ANY of the above mentioned "actual" diseases, my... whatever it is... doesn't affect my life, and a Dis diagnosis works for me!

Fair enough.

 

[jsmith]

my sister in law also has Wegners-there are two forms-the one nmmom95 has and the one my sister in law has-she has no kidney involvement but before remission she had enormous granulomas in her lungs.
She is about 12 years out from diagnosis-has been in remission for 7-never did cytoxin-just methotrexate-and shes doing quiet well.

 

[Magic Mom]

My SMIL has Sjögren's syndrome. It primarily causes dry eys and mouth, but in some it can cause other debilitating autoimmune symptoms, and it has in her. Its very hard on her.

 

[HoneyPooh]

My husband and both of my sons have Tourette Syndrome. My father in law had it and was nice enough to pass it along. Until the day he died he was obsessive compulsive. If there was a piece of lint on the floor he had to vacuum the whole house. Their floors got done about 10 times every day.

Luckily the boys have mostly outgrown their tics as they have aged but they still have a few left. My oldest will pick every bit of fuzz off of any blanket he gets his hands on without realizing he's doing it. The insides of all his hoodies are toast as well! School was very difficult for them but they managed to graduate. My husband still has one tic he will probably never get rid of. If you were to tie his hands he would not be able to order food. He has to rub his hands together or he can't do it, very strange.

 

[minkydog]

I think I have one - sarciodosis (totally spelled wrong). It is unsymptomatic, and was diagnosed after a routine chest xray, and a lung biopsy. Apparently, my lungs are totally scarred, and it can affect many of my organs. One "cool" aspect of it is that it is mentioned on House all of the time.

DH has sarcoidosis, too. Sarcoidosis isn't actually all that rare. Most people who have it are like you--little or no symptoms, little or no treatment required. Most people have it only in their lungs or on their skin. Usually it runs it's course in 6 months to 2 years.

And then you have people like DH, who has sarcoidosis in his brain(causes seizures and memory loss), his heart (caused serious electrical problems, now has a pacemaker, has chronic pericarditis), his joints( causes severe arthritis-like pain), his sinuses, and his skin. His lungs are riddled with scar tissue so that he only has about 30% lung function and requires oxygen when he sleeps. The fatigue is almost unbearable and he has to take 2 long naps a day and go to bed at 8pm. DH has been completely disabled for about 5 years now. The course of his illness will probably wax and wane until something real bad happens, like cardiomyopathy, pnuemonia, flu, or respiratory failure. He knows he will die from this. It's just a matter of time. Who knows how long? We try to make our days count.

 

[LaraK]

Yep, pretty much HATED the patch testing, and now have been through two scopes. Right now we are eliminating milk, soy, sunflower, apple, carrot, green pea, and turkey.
Have they ever id'ed your kiddos allergies?

After the first wave of diagnositcs we only eliminated turkey, pears, chocolate and bananas, but then he flared up badly last year....he had greater than 55 eos per high powered field when they scoped him. We did all the testing again last summer and lost Turkey, Chicken, Beef, peanuts, tree nuts, milk, eggs, pears, peas, bananas, and chocolate. We also avoid shellfish, lamb, goat's milk products, venison, and other foods he's not had. Luckily we have soy and wheat for the moment, but we scope again in a month.

I am SO sick of pork.

 

[heartofdisney]

Hmm... interesting timing!

I actually found out TODAY here on the Dis that I have this rare condition called Dermographism. Whenever my skin is moist, I can "write" things in it... and where I wrote turns into red, itchy welts. I always thought I was crazy, but found out today that I am not! Apparently, it affects only 4% of people.

This doesn't seem to be along the lines of a rare disease.Some of these people have serious complications from thier diseases. If your skin seems to gets welts on it when you write on it,then I suggest maybe you shouldn't write on it then,hmmm? I think maybe if your skin does this,it could just be sensitive skin,and I think that in itself is not all that rare.Even if it is,I guess the cure would be to stop writting on your skin when it is wet???

 

[phillmolly]

In 2003 I was one of 7,600 people diagnosed with Hodgkins Disease. Hodgkins mainly affects young males or older people, I was 30. I was very lucky though, from the time of my first dr. visit to my first chemo treatment was less than two weeks! It usally takes months for people to get a diagnois.