Rare Disease Day 2010

[mumom95]

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!

Ok, I have to say, when I first read this I read it as :make a snow fart. And I was trying to figure out what the heck a snow fart was.

I know someone else who is allergic to the cold basically. The one good thing is it gets him out of shoveling his driveway. He once called his insurance company and tried to get them to pay for him to move to Florida, saying it was medically necessary. He meant it as a joke and said the guy at the insurance place seemed to get a kick out of it.

 

[lemondog]

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.

Bernie Mac died from complications of sarcoidosis. His lungs were so scarred he could not effectively fight pneumonia. That's scary!

 

[DVCJones]

My DD has Horner's Syndrome. It causes her left eye to droop and she doesn't sweat on her left side. Her left hand is also significantly smaller than her right.

Horner's isn't that big of a deal now, but I suspect she will not like it when she grows up. It causes her to sweat twice as much on the right side of her body. Puberty should be fun.

She also gets very sweaty quickly in hot weather.

Her Horner's was caused by a Neuroblastoma growing on the sympathetic nerve.

 

[autumnpalm]

My aunt passed away recently from Systemic Scleroderma. I had never heard of it before she was diagnosed, according to Wikipedia it affects only 1-2 in 100,000 people. Basically it is a hardening of tissue and organs (in her case, I believe it affected her liver quite severely). There are many subtypes and some are not as serious as others but it is a disease without a lot of research and publicity.

She was a wonderful, wonderful woman and I miss her almost every day.

 

[KPeveler]

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???

Please try not to judge other's diseases... There are some people with this condition who cannot dry themselves after a shower without having welts all over their body.

Some people have told me that my disease should not be this severe and it is not really a problem and I should not have pain. Just try to remember that everything is relative.

 

[locolala]

While not as rare as some of the conditions you folks have, I have a slightly rare genetic condition called neurofibromatosis type 1. In addition to that, I was JUST (like, last week lol) diagnosed with Noonan Syndrome. That combination is pretty rare, but it does happen occasionally. I'm mostly not affected, but I have some of the physical deformities that come with those conditions, like short stature, scoliosis, and my shoulder blades are really weird looking, lol.

 

[minkydog]

Bernie Mac died from complications of sarcoidosis. His lungs were so scarred he could not effectively fight pneumonia. That's scary!

That's true. It was a very sobering day at my house when Bernie Mac died. Like looking into the future...

 

[LunchladyDoris]

Please try not to judge other's diseases... There are some people with this condition who cannot dry themselves after a shower without having welts all over their body.

Some people have told me that my disease should not be this severe and it is not really a problem and I should not have pain. Just try to remember that everything is relative.

To be fair though, the PP who posted about this condition doesn't really know if she has it or not. She didn't go to the doctors, but rather the "dis-doctors" This condition is real but is it likely the PP has it? Who knows, unless there is an actual doctor who can diagnose it.

 

[starann]

While not as rare as some of the conditions you folks have, I have a slightly rare genetic condition called neurofibromatosis type 1. In addition to that, I was JUST (like, last week lol) diagnosed with Noonan Syndrome. That combination is pretty rare, but it does happen occasionally. I'm mostly not affected, but I have some of the physical deformities that come with those conditions, like short stature, scoliosis, and my shoulder blades are really weird looking, lol.

I have a friend who has neurofibromatisis....she has a pretty severe case and has the tumors all over her body, its gotten worse as she as gotten older.

 

[KPeveler]

To be fair though, the PP who posted about this condition doesn't really know if she has it or not. She didn't go to the doctors, but rather the "dis-doctors" This condition is real but is it likely the PP has it? Who knows, unless there is an actual doctor who can diagnose it.

The DIS diagnosed me! I never would have heard of my disease without the DIS.

About 2 months later I was able to get an actual dx from a doctor.

I am not saying that a disease is or is not real, or a diagnosis is or is not real, but I just ask that we try not to judge on this thread.

 

[golfgal]

My aunt passed away recently from Systemic Scleroderma. I had never heard of it before she was diagnosed, according to Wikipedia it affects only 1-2 in 100,000 people. Basically it is a hardening of tissue and organs (in her case, I believe it affected her liver quite severely). There are many subtypes and some are not as serious as others but it is a disease without a lot of research and publicity.

She was a wonderful, wonderful woman and I miss her almost every day.

My mom had this as well. Her's was mostly in her lungs.

 

[kmwek]

My middle son has Oligoarticular Juvenile Rheumatoid Arthritis. While it is not nearly as rare as many of these diseases, many people do not realize that children can have arthritis. During flares he has pain, stiffness, swelling, and heat in his joints. It can also cause inflamation in the eyes (uveitis), which can lead to blindness if not caught in time. Depending on the severity of the disease some children have joint replacement in their teens. So far his eyes are perfect and only his knees and ankles are affected. Currently he is in remission, but we know that at any time he could wake up with a flare.

 

[Lachesis00]

I missed this post!

I have TAR Sydrome...
TAR Syndrome (Thrombocytopenia with Absent radius) is a rare genetic disorder which is characterized by the absence of the radius bone in the forearm, an extremely shortened ulna, and a dramatically reduced platelet count.The incidence is 0.42 per 100,000 live births.
My hips are mis-aligned and I walk with a gate (I look like a duck). My knees were backwards when born, and repaired before I was 2. I didn't walk until I was 4.

From what I've been told, there are approximately 300 people *alive* world wide. I believe a high percentage die due to the low platelets (bleeding in the brain and such).

 

[Inigo]

I missed this post!

I have TAR Sydrome...
TAR Syndrome (Thrombocytopenia with Absent radius) is a rare genetic disorder which is characterized by the absence of the radius bone in the forearm, an extremely shortened ulna, and a dramatically reduced platelet count.The incidence is 0.42 per 100,000 live births.
My hips are mis-aligned and I walk with a gate (I look like a duck). My knees were backwards when born, and repaired before I was 2. I didn't walk until I was 4.

From what I've been told, there are approximately 300 people *alive* world wide. I believe a high percentage die due to the low platelets (bleeding in the brain and such).

I think this is what my cousin's daughter was born with. I don't know the name of her disability, but your description sounds just like her.

 

[Lachesis00]

If she has any questions, let me know. A lot has changed in 39 years! I have the "longer" arms and I have one the oldest documented with TAR.

I think this is what my cousin's daughter was born with. I don't know the name of her disability, but your description sounds just like her.

 

[Inigo]

If she has any questions, let me know. A lot has changed in 39 years! I have the "longer" arms and I have one the oldest documented with TAR.

Thanks for the offer, but Melissa is (counting on fingers and figuring it out...) 32 now. I'm the very youngest of cousins on that side of the family, so most of my cousin's kids are closer to my age. (Is it weird to have some first cousins old enough to be your grandparents? My oldest cousins are 41 and 43 years older than I am! Seriously!! )