Rare Disease Day 2010

[Topper]

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.

Is that a picture of your arm? I've seen that picture before.

 

[lemondog]

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.

Our neighbors' teenage son has this. He has been through chemo, was on a feeding tube for years, as a result he is very growth delayed. But luckily they caught it very early and he has minimal damage to his internal organs.

 

[AKL_Megs]

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

It's pretty obvious... my thighs do that... (see below)...

Is that a picture of your arm? I've seen that picture before.

Nooo... found that on Google. Whoa... wasn't taking credit, wasn't taking credit!

 

[minkydog]

My son Christian has Pallister-Killian syndrome, a very very rare chromosome disorder( chromosome 12.) Most babies who have it die in utero. If they make it birth, 60% will die before their first year. If they make it to 2 years their chances are pretty good that they'll be okay. PKS kids are profoundly mentally retarded, hearing & vision impaired, have seizures. Most of them never walk, talk or have any self-care skills at all; very few can eat, they have feeding tubes.

We were soooo soooo lucky. PKS is identifiable by amnio but we had declined it because we knew we would never abort, no matter what. It took 2 years to diagnose, over 200 blood tests. Finally a skin biopsy told the tale. The thing is, if we had known all along that he had this we probably wouldn't have tried so hard to teach him some skills. We might have just sat back and said, "Well, they all have feeding tubes, so CHristian will have a feeding tube" or "Well, they don't walk or communicate so what's the point of PT?" Instead, because we didn't know what was wrong, we did everything but turn ourselves inside out trying to break into his little world. And Christian did the near-impossible--he learned to sit, walk, run, ride a horse. He laughs and plays jokes, drinks from a straw, uses a spoon> He's even trip-trained (a type of potty training where you take them at certain intervals and they go, kinda like Pavlov's dogs.) Two years ago Christian figured out how to swim and back float! He's going on 3 years swimming in the Special Olympics and in fact, this year will be joining the distance walking team.

Pretty good for a kid who should have died.

 

[lemondog]

I have 2 conditions on the rare disease database:

1. Hidradenitis Suppurativa. Luckily a much lesser version than the above poster. I have been treated for years via antibiotics, topical meds, and for the past 6 years, oral contraceptives. I think I am one of the few woman taking birth control pills for something OTHER than birth control! But it works...I have been in "remission" the entire time. Mine is obviously hormone-related.

2. Thalassemia Minor, the lesser version of the often fatal Cooley's Anemia. Had to undergo genetic testing/counseling when I was pregnant, as this is one of those diseases where if both parents carry the trait, the child has a 1 in 4 chance of inheriting Cooley's. I have no symptoms other than a crazy CBC...my red blood cells are too small to carry sufficient hemoglobin, so I am eternally anemic, but NOT iron-deficient. There is no treatment for my type of anemia.

 

[daughtersrus]

My DD has a very rare genetic disease called Alpha Mannosidosis. She is one of about 200 people in the world with this diagnosis.

My DD is the little girl in the blue bathing suite in the top left corner.

http://www.ismrd.org/

 

[golfgal]

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.

That is SO strange. I know we just diagnosed you today but are there any repercussions with this condition?

I have a friend that has a DD with a VERY rare bone disease (the name escapes me now) but there are only 5 known cases of this in the world. Basically her bones break at the slightest touch. She can break her leg just rolling over in bed wrong. It is so very sad. She is 24 years old, has a masters degree but can't move or she will break something.

 

[AKL_Megs]

That is SO strange. I know we just diagnosed you today but are there any repercussions with this condition?

Nope, just itchy welts for a few minutes. It's funny, in MY case, my skin needs to be damp. When I shave my legs, you can see the marks. If I have an itch in the shower, you can see the marks where I itched. At hot tub get togethers at friends houses, I write names on my legs! Doesn't hurt, just itches, then goes away.

Don't think it could be anything else, as the symptoms match 100%. Always thought it was just me.

 

[PlainJane]

I have Ehlers-Danlos Syndrome, a collagen defect affecting basically all the "glue" in my body. All of my joints hyperextend, sublux

I have Hypermobility Syndrome, which includes the symptoms mentioned above.

While I have been told that my joints will "tighten" with age, they have continued to deteriorate. When I was a child, only one of my joints would dislocate, now they all do.

While my doctor considered that I might have the Hypermobility (formally type III) form of Ehlers-Danlos Syndrome, it was ruled out because I have no family history.

 

[KPeveler]

I have Hypermobility Syndrome, which includes the symptoms mentioned above.

While I have been told that my joints will "tighten" with age, they have continued to deteriorate. When I was a child, only one of my joints would dislocate, now they all do.

While my doctor considered that I might have the Hypermobility (formally type III) form of Ehlers-Danlos Syndrome, it was ruled out because I have no family history.

There are a lot of people with no family history with EDS - sometimes the manifestation is very small... I have never heard of someone getting an HMS dx instead of EDS due to lack of family history! Usually people only get an HMS dx if there is no skin problems, only joint problems. Was it a geneticist who gave you this dx?

 

[PlainJane]

There are a lot of people with no family history with EDS - sometimes the manifestation is very small... I have never heard of someone getting an HMS dx instead of EDS due to lack of family history! Usually people only get an HMS dx if there is no skin problems, only joint problems. Was it a geneticist who gave you this dx?

No, it wasn't. I was never referred to a geneticist because I didn't have a family history.

I've been to a primary doctor that referred me to an orthopedist. The orthopedist referred me to a rheumatologist. The rheumatologist said I fit the criteria of hypermobile joints, pain, smooth fragile skin, and easily bruised skin. Because I didn't have a family history, he decided to disregard the above.

I decided not to pursue it because there seemed to be no risks for other health problems from the form of EDS I was being considered for.

If there are risks I'm not aware of, I would be interested in hearing about them, or if there is any other reason I should have a definite diagnosis.

 

[worm761]

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.

My nephew is 20 years old now. He has done very well. You do feel really bad about eating a burger in front of him as he was eating his canned veggies. That boy loved canned veggies as a kid. It is a scary disorder but we all went to classes to learn how to feed him before we were allowed to be alone with him when he was little. The formula they used to have way back smelled so bad it would make you gag just mixing it. They have come a long way since then.

 

[KPeveler]

No, it wasn't. I was never referred to a geneticist because I didn't have a family history.

I've been to a primary doctor that referred me to an orthopedist. The orthopedist referred me to a rheumatologist. The rheumatologist said I fit the criteria of hypermobile joints, pain, smooth fragile skin, and easily bruised skin. Because I didn't have a family history, he decided to disregard the above.

I decided not to pursue it because there seemed to be no risks for other health problems from the form of EDS I was being considered for.

If there are risks I'm not aware of, I would be interested in hearing about them, or if there is any other reason I should have a definite diagnosis.

People with hypermobile EDS are more likely to get osteoarthritis due to subluxing and dislocating... we are also more likely to get osteoarthritis, though no one knows why.

Dysautonomia also goes with EDS a lot.

I have neurological complications due to EDS - occult tethered cord, retroflexed odontoid with pannus (causing spinal cord compression), and possible Chiari malformation.

Really it is up to you to get HMS or EDS or whatever dx you want and feel fits best. Since I have other problems besides the joint stuff, it was important for me to get a EDS dx. Too many doctors do not think HMS causes any real problems.

Also, while we might lose some range of motion with age, with EDS (and presumably HMS) we actually get much worse with age, as our joints and ligaments and tendons wear out...

 

[lemondog]

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.

I think it's amazing that a diet can control a disease so effectively. Thank the Lord most test for this at birth. Otherwise the brain damage occurs before it's too late.

 

[HugsForEeyore]

My nephew has something called acrocephalopolysyndactyly - say that five times in a row! It's a genetic syndrome where the sutures of the skull fuse way too early before birth, resulting in a mishappen head and face. It also deforms the hands, fingers, feet and toes. The brain's growth is restricted within the skull, which leads to many learning disabilities. He also has short statue (projected height probably a little under 5 feet tall). My nephew has had many surgeries, and been in special ed most of his life.

But the blessing in all of this is that he so much fun to be around - loving, uncomplaining, and likes the simple things in life. When most 14 year olds are all into the teen scene and video games and hangin' with their friends, my nephew prefer his stuffed animals, going to Chuckie Cheese, and hugging characters at Disney World!

I also babysit a girl who I known since she was 2 months old. She was always "off" and had a severe heart defect at birth, which was fixed with surgery. But she had bizarre behaviors and very apparent learning disabilities all throughout childhood. Only when she was 12 she was finally diagnosed with something called VCFS - Velo-Cardio-Facial-Syndrome. It's a microdeletion on the long arm of Chromosome #22, and leads to all the health and behavior problems she has. There is no cure and she will probably need some adult supervision for most of her life. But once she was diagnosed, everything finally made sense.

Both of these kids are very close to me, love them so much!

 

[KPeveler]

No, it wasn't. I was never referred to a geneticist because I didn't have a family history.

I've been to a primary doctor that referred me to an orthopedist. The orthopedist referred me to a rheumatologist. The rheumatologist said I fit the criteria of hypermobile joints, pain, smooth fragile skin, and easily bruised skin. Because I didn't have a family history, he decided to disregard the above.

I decided not to pursue it because there seemed to be no risks for other health problems from the form of EDS I was being considered for.

If there are risks I'm not aware of, I would be interested in hearing about them, or if there is any other reason I should have a definite diagnosis.

Oh, another thing - pregnancy can be very dangerous with EDS - either the hypermobility or classical type. Hip dislcation, uterine rupture, uterine prolapse, inability to heal after c-section...

Also, have you seen a cardiologist? Because heart problems can happen with any type, and you should have an echocardiogram and EKG just to make sure.

And all forms of EDS can cause vision problems, such as retinal and optic nerve problems...

 

[Inigo]

I have several diseases on the rare disease list: Pernacious Anemia, Ankolysing Spondylitis, Crohn's Disease, and Pseudo Tumon Cerebri.

In addition to those: Carpal Tunnel Syndrome, Rheumatoid Arthritis, and Osteoarthritis.

I figure one of these days, I'll be walking down the hall, and body parts will just start falling off. Oops! There goes an arm. Oops, this time it was a leg...

 

[zachnsamsmommy]

My MIL has Still's disease. It is like juvenille arthritis, but in adults. She kept getting sicker and sicker when she was in her early 30's, and finally was only diagnosed in the Mayo clinic. I don't know statistics, but it is pretty rare.

She is in a lot of pain most of the time, and is on NSAIDS, steroids, and GI meds (to combat the NSAID effects and steroids). She is in her early 60s now.

I hate that so many of you have to deal with this . We are still awaiting some test results of my DS, who is almost 3, about some possible genetic issues...and the waiting is killing me. It must be so hard having to wait years to find out what is wrong with you...and I just have to wait months.

 

[MariDisney]

My DD 10 was born with an imperforate anus which has an incidents of about 1 in 5000. She may have Townes-Brocks syndrome, which is known to be present in only a few hundred people world wide. A test for the syndrome is not available in the US. Since her symptoms are relatively minor, we haven't pursued what at this time would be an expensive diagnosis.

 

[MoniqueU]

I fall into this category as well, I have retinitis pigmentosa which affects your ability to read almost anything without bright light and total loss of peripheral vision. I lost my drivers license at age 30 and have trouble getting around anywhere where i might bump into things. No cure, no real treatment and not much research going on. Just have to deal with things as they come and hope my central vision holds out as long as possible.

Having something rare sucks, it is hard to find a dr to treat you and then usually it is all bad news so why even bother going?? At least I am not in pain just living on the will of others that take their driving privledges for granted and won't always give you a ride when you need it including family members.