Rare Disease Day 2010

[KPeveler]

So, today February 28th is Rare Disease Day (sponsored by the National Organization for Rare Diseses)

I did not see a thread about this, and though it is late in the day, better late than never!

A rare disease is one that affects less than 200,000 Americans (or about 1 in 5,000)

I have Ehlers-Danlos Syndrome, a collagen defect affecting basically all the "glue" in my body. All of my joints hyperextend, sublux, and dislocate randomly and frequently. I use a wheelchair due to neurological complications of this disorder.

It took me 24 years to be diagnosed with this condition. Very few doctors know what it is.

There is no treatment and no cure.

Rare Disease Day is about raising awareness of these diseases, so others in the future do not have to suffer the way we do.

If anyone else has a rare disease or knows someone who does, post the story here!

www.rarediseaseday.us or www.rarediseaseday.org

***Disclaimer: I do not work for NORD, and I am not in any way collecting money or anything. This is all about sharing knowledge.***

 

[Mandychelle79]

My sister has Stargardt's. Its a juvenile onset form of Macular degeneration. She was older when she was diagnosed at the ripe old age of 22 or 23 i think. About 25,000 people have it in the US.

 

[AKL_Megs]

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.

 

[pls5286]

I have a condition called Pseudotumor Cerebri where my brain makes spinal fluid faster than my body can reabsorb it.

It mimiks all the symptoms of a brain tumor, which is how it got its name. I get horrible, horrible headaches, have had 3 brain operations, 4 strokes and had to give up my career in EMS due to this disease.

I have suffered from this since 2001 and now have a great team of Drs, which have given me a better quality of life than I once had. I now have more good days a month than bad and seem to be taking my life back over.

 

[KPeveler]

Wow lots of posts already!

I should have mentioned that I am only 25 now, and it took 23 years to diagnose a congenital condition.... I am now being slowly paralyzed, and doctors won't even see me (although I know it can be fixed) because they are too afraid of lawsuits! I hope that things like Rare Disease Day help to make people more compassionate and aware!

 

[Sparx]

I have a phobia. roughly 4-5 percent of the population has one at any given time. (I say any given time, because thankfully they are curable, but they can also onset at any time in the life.)

but phobias are widely recognized and easily diagnosed, so it is definitely nothing compared to having an uncurable, unheard of disease.

there is so much emphasis put on diseases like breast cancer, but other diseases (even other cancers) still remain unheard of. its terrible the way that "awareness" is raised over things we all know all about, but not what really needs to be brought into the spotlight of the general public. thank you for posting this thread!

 

[LaraK]

Thanks for posting this.

My son has an eosinphilic disorder. This rare disease is sadly getting more common. Eosinophils are a white blood cell that fights parasites. The problem is that people with this disorder have eosinophils that think food (or other allergens) are parasites and attack the part of the body where the food is. My son's eosinophils are fast and attack the food in the esophagus. Therefore his disease is eosinophilic esophagitis. We're lucky...my son still has some safe foods. Most kids with this disease can not eat food at all other than ice chips and sometimes one or two more foods. My son drinks an ammino acid based formula to get his nutrition. Again, we're lucky because he drinks his formula and can supplement....most of these kids have to have a feeding tube to get enough formula.

Thanks for giving us a chance to raise awareness.

 

[Katieinwonderland]

My cousin has a disease called Rett Syndrome. It mostly affects women, but there have been rare cases of it affecting men. I looked up the statistics and I think it affects something like 10,000 Americans, but not 100% sure on that.

It is a developmental disorder - my cousin will be 28 this year, but can only do very little for herself. She can't walk or talk, although she can move a little (her arms and head mostly) and can make noises, just not speak words. Her mind is mostly like a baby's would be - it seems like she recognizes family members and smiles when you sing at her! She LOVES to watch Disney Sing-a-long Songs DVDs!

http://www.rettsyndrome.org/

 

[nmmom95]

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.

 

[KPeveler]

So many people are affected by rare diseases... And most of the time, no one knows...

I wonder how many people who are telling stories here were misdiagnosed at first - I know i was for years, and the treatments tried left permanent damage...

Anyway... keep the stories coming!

 

[Luvmy4boys]

I had Hemophagocytic Lymphohistiocytosis. Thankfully due to a great team of doctors at Yale New Haven Hospital who kept trying, I was cured with a bone marrow transplant.

 

[C.Ann]

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.

Wow! That is the strangest thing I have EVER seen!!!

To all of you suffering from very rare diseases, I really do feel bad for you.. My best friend's nephew died from a rare disease a number of years ago - he was about 3 yrs. old.. It's called "Krabbe's" disease and from what I recall is quite rare.. It's something you are born with - appear to be healthy - and then rapidly deteriorate.. It was heart breaking - to say the least.. I believe there is also a very well known baseball player whose son had this disease and he started a foundation for it prior to his son's passing - to raise awareness and money for research.. I can't remember his name though..

I've been watching quite a few of those "rare" medical stories (actually "listening") while I'm doing my charitable crocheting this winter and it's terrible hearing about conditions people have - and often die from - simply because there are only a handful of cases in the U.S., so there is no money being put into research to find cures..

To anyone here suffering from a rare disease, I wish you well..

 

[quasar4legs]

To the OP, thank you for highlighting this important day.

Hugs to all those that have a rare disease

 

[AKL_Megs]

Wow! That is the strangest thing I have EVER seen!!!

Ya think, LOL! And to think, for 27 years, I have been thinking it was some freaky thing only I had!

 

[LaraK]

So many people are affected by rare diseases... And most of the time, no one knows...

I wonder how many people who are telling stories here were misdiagnosed at first - I know i was for years, and the treatments tried left permanent damage...

Anyway... keep the stories coming!

While we were "misdiagnosed" initially...that's actually one of the indicators of an eosinophilic disease. My son was diagnosed with GERD but he kept vomiting. (not normal vomiting....my son used to throw up every day 4-5 times a day every day) Only after he failed the treatments for GERD did they do the first biopsy. The only way EE can be diagnosed is by doing biopsies...my son has already had 8 surgeries and his ninth is coming up in a couple months. He's 5.

 

[worm761]

I have a nephew with PKU. It is a rare genetic disorder where he can't break down certain proteins. He has a very very strict diet.

 

[Magic Mom]

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.

The DIS diagnosed you with a rare condition? Shouldn't you check with a doctor before you confirm that's what's wrong?

 

[Magic Mom]

I have a nephew with PKU. It is a rare genetic disorder where he can't break down certain proteins. He has a very very strict diet.

A woman I work with has a daughter with that condition. They seem to deal with it pretty well. Mom says her DDis fine with her restricted diet. I'm impressed with how well the cope with it.

 

[starann]

After about 4 years of painful recurrent cysts I was diagnosed with Hidradenitis suppurativa.

I was misdiagnosed for years and treated with the wrong antibiotics. After a 18months of medical tx, the dr told me my only option was a surgical one, I had an excision of my armpits (a 2inx4in area of skin removed and the tissue sewed back together) in Oct which has worked the best so far. Although it has returned along my scar line and above it...the next step will be skin grafts, but I will wait until it is bad again.

It's amazing, as a nurse, how many people have this condition (I often tell pts to seek out a specialist, as that is who diagnosed me), but it goes misdiagnosed for most people by A LOT of drs who have no clue what it is.

 

[TiggerStac]

My 10 month old son was diagnosed w/urticaria pigmentosa about 10 days ago. From what I have found it effects less than 200k people (mostly children) and is considered an "orphan syndrome" because it is so rare.

We went to dermatologist because of his "spots" come to find out he has this condition. Went to allergist on Thursday, came out w/an epipen and labs drawn for tons of allergens. He is testing the level of the disease in his system and if it's high we will have to scratch test him end of March.

I was greatful to come out with the epipen because the reaction he can have to some allergens is severe!