It's Rare Disease Day 2011

[KPeveler]

Today (2/28) is Rare Disease Day 2011! This is a day to recognize, learn about, and support those with rare diseases.

A rare disease is one that affects fewer than 1 in 2000 people. Rare diseases are almost always complex and none of them have a cure. There are thousand of rare diseases, and most people affected with a rare disease will never meet another person with the same rare disease! It makes for a lonely and difficult journey through a sometimes hostile and always confusing medical world.

I have Ehlers Danlos Syndrome, a genetic collagen defect which leads to joint hypermobility, skin problems, neurological problems in my spinal cord, extreme fatigue, and incredible pain. I partially or fully dislocate major joints every day, multiple times a day. I use a wheelchair full time, as my joints cannot support my own body weight (I weigh 110 lbs), and I am on many medications.

Most doctors will simply refuse to see me. There is a surgical fix for one of my problems, and there is only one doctor in the country who will do it. My insurance refuses to pay since he is on the other side of the country. However, they will pay for the wheelchair I need due to this complication. Go figure.

If you are affected by a rare disease, or someone close to you is, post it here. It is amazing how many people are affected by rare diseases.

Alone we are rare, together we are strong.
http://www.rarediseaseday.org/

 

[bellebud]

my dh's family has a genetically inherited rare disease... Hyperkalemic Periodic Paralysis. My dh and both my children have it (as do many of dh's relatives, and his mom).

There are a few 'syndromes' that can cause Periodic Paralysis, and being Hyperkalemic is one of them. (Hypokalemic is another). The easiest way to explain their condition (which is technically classified under muscular dystrophy, since it's a skeletal muscle disease), is that they have too much potassium in their bodies. This can cause 'attacks' that can be as simple as a 5 minute muscle weakness or stiffness, to days of full body paralysis. Coldness is a common trigger (we live in NY and have plans to eventually get ourselves to Florida - it's crazy to live in a place that at least 6 months out of the year is extra hard on your body). Throwing up is another common trigger. Fulling waking up in the morning, then going back into a deep sleep is another common trigger. Not being able to walk around and stretch the muscles is another trigger. Diet, of course is a trigger. Exercise too. The list goes on and on, and can be fairly different for different people.

Sorry for OP's condition, and anyone else who posts on this list. While there are many people who are worse off than my dh and kids (like the hypo's - not enough potassium - seem to have it worse than the hyper's), it's sometimes hard as a mom to see my kids hit their glass ceilings. But we count our blessings, and in the end, are just fine.

 

[daughtersrus]

Today (2/28) is Rare Disease Day 2011! This is a day to recognize, learn about, and support those with rare diseases.

A rare disease is one that affects fewer than 1 in 2000 people. Rare diseases are almost always complex and none of them have a cure. There are thousand of rare diseases, and most people affected with a rare disease will never meet another person with the same rare disease! It makes for a lonely and difficult journey through a sometimes hostile and always confusing medical world.

I have Ehlers Danlos Syndrome, a genetic collagen defect which leads to joint hypermobility, skin problems, neurological problems in my spinal cord, extreme fatigue, and incredible pain. I partially or fully dislocate major joints every day, multiple times a day. I use a wheelchair full time, as my joints cannot support my own body weight (I weigh 110 lbs), and I am on many medications.

Most doctors will simply refuse to see me. There is a surgical fix for one of my problems, and there is only one doctor in the country who will do it. My insurance refuses to pay since he is on the other side of the country. However, they will pay for the wheelchair I need due to this complication. Go figure.

If you are affected by a rare disease, or someone close to you is, post it here. It is amazing how many people are affected by rare diseases.

Alone we are rare, together we are strong.
http://www.rarediseaseday.org/

My youngest DD has a very rare genetic disease called Alpha Mannosidosis. She is one of about 200 people in the world diagnosed with this disease. Because it is so rare it took us 7 years of searching to get the diagnosis so it's likely that there are more people with the disease, just not diagnosed. It is recessive so both myself and DH are carriers.

The sad thing is that there are now (not when she was born) newborn screening tests available for this and other Lysosomal Storage Diseases but the FDA won't approve them because they said they don't effect enough people. It may not effect a lot of people but the people that it does, it impacts their lives severely. A successful bone marrow transplant will stop the disease because the new bone marrow is able to produce the enzymes that are needed.

 

[indimom]

DD13 has Ocular Histoplasmosis Syndrome. (I had to google to see if it is considered rare and it is, tells you how much I know.)

It's hard to describe so I just cut and pasted some information.

Histoplasmosis is a disease caused by the fungus Histoplasma capsulatum. This fungus is found throughout the world, but is endemic in the Mississippi and Ohio River Valley areas of the United States.

This fungus is found in soil where bird and bat droppings have accumulated including chicken coops, caves and in old buildings. People who live or work on farms, landscapers, construction workers, and others who work outdoors can be exposed. The fungal spores become airborne when the soil is disrupted and are inhaled into the lungs. It usually produces only mild flu or cold like symptoms, so the person may be totally unaware that he or she has been exposed to Histoplasmosis.

When Histoplasmosis becomes Ocular Histoplasmosis: In some cases, the fungus, after being inhaled, travels through the blood vessels into the eyes where it can cause inflammation and scarring in the peripheral retina. These scars usually do not cause visual problems and are called “histo spots”. Histo spots vary in number, but can usually be seen in both eyes.

Affecting the Macula: Vision loss from OHS can occur when the central retina or macular region is involved. When abnormal blood vessels grow or fluid leaks into the macula, it can lead to severe scarring and vision loss. The vessel growth is called a subretinal neovascular membrane and can be present in one or both eyes.

Most often vision loss due to OHS occurs in one eye allowing the patient to function normally with the other eye. However if and when the other macula develops a neovascular growth, more severe visual problems develop including difficulty reading, writing, and driving due to the loss in both eyes.

DD had her first NVM in her right eye last fall, but with laser surgery she has recovered a good amount of vision in that eye (from legally blind to 20/70). Stress on the body (physical or mental, pregnancy, illness, etc.) are thought to be triggers for periods of active vessel growth.

So, we'll be keeping her calm, calm, calm and healthy from now on. We've been told that if she goes five years without a repeat, we can consider her safe from another NVM. So, only four years, ten months to go. She has her second followup appointment this afternoon, so I'm hoping for good news today.
ETA: No luck. It's still bleeding. So, she'll go back in three weeks and if its still leaking, she'll get another laser treatment. Hip Hip.

 

[KPeveler]

Keep the posts coming! I know there are a lot of us here on the DIS affected by rare diseases.

 

[pls5286]

I have Pseudotumor Cerebri. My brain makes spinal fluid faster than my body can reabsorb it. I have a shunt to help with this, but it doesnt always keep up with it. I get really bad headaches and have had 4 TIAs along with 3 operations for the shunt.

I am no longer able to work, as I busted one of my shunts in the back of an ambulance when I worked as a paramedic.

I still deal with bad headaches even though I have a shunt, but not as bad as before I was shunted.

 

[minkydog]

My youngest son, Christian, has a very rare chromosome disorder called Pallister-Killian syndrome (tetrasomy 12p). It can be detected in utero by amniocentesis. But only about 30% of babies who have it will even survive the pregnancy. Of those who survive birth, about 60% will succumb within the first year. If they make it to 2 years, the outlook is pretty fair, medically speaking. PKS is not hereditary, nor is it age or gender related. It is considered an accident of nature.

People with PKS are usually severely, profoundly mentally handicapped. Most have seizure disorders. Many have heart problems, diaphragmatic hernia, collagen disorders, digestive disorders, and vision & hearing loss. Most never walk, talk, or take care of themselves.Many eat via feeding tube. As a population, they will require constant supervision and care for the rest of their lives.

In Christian's case we have been lucky. He has seizures which are controlled by 3 drugs. He has vision & hearing loss, but he has enough use of his eyes and ears to get around, recognize voices and people. He walks (praise God!) and he is about 50-75% potty trained (Yesh!) He eats anything put in front of him and he has no bad behaviors, like biting, fire setting, acting out, or hitting. He's a great, non-verbal, 120-lb one year old who just wants to be with people who love him. Christian is smiling almost 100% of the time(and if he's not smiling or eating, you better check his temp!)

I would say Christian's diagnosis is a two-edged sward. It's great that he is medically stable and he rarely gets sick. But the flip-side of that is he will probably outlive all of us because he has no serious health issues. So there is a whole level of planning that goes with raising a kid like Christian. Of course, we love him to pieces and we have no regrets.

 

[LaraK]

My son has a disease which is considered rare, but sadly my not be considered rare forever because the incidence of the disorder seem to be rapidly increasing.

The disease he has is called Eosinophilic Esophagitis. Basically, his body thinks that certain foods are parasites and sends eosinophils (white blood cells) to attack the food. Unfortunately, the food is gone by that point so the eosinophils attach is esophagus instead leading to damage resulting in vomitting, severe pain, weight loss and other symptoms. We are blessed and have been able to return enough food into his diet where he can still eat and survive on nutrition he takes "normally". Most kids with this disorder are allergic to almost all food and many have to have feeding tubes.

 

[Tinker'n'Fun]

As much as I suffer and am disabled, my heart, prayers, and hope goes out to each and everyone of you!

May God forgive me for complaining, as I should be counting my blessing instead.

 

[HeatherH]

I don't have any personal experience with rare diseases, but just want to wish all of you that are dealing with them and all the surrounding issues all the best. I hope that awareness is raised by this day and that there is progress and hope with all the rare diseases.

 

[honugirl]

Cushing's Disease and now Addison's Disease because of the treatment. In 2009 I had a tumor removed from my pituitary gland, but the gland still produced excess amounts of ACTH (adrenalcorticotropin hormone) which signals the adrenal glands to produce cortisol. Excess ACTH = Excess Cortisol = Severely Damaged Body. In an attempt to stop the disease process I had both adrenal glands removed in May of last year, which means I will always live with Addison's disease. Cushing's disease is an equal opportunity offender. If it can ruin it, it will from the circulatory system to the skeletal system. My muscles have been seriously affected and are now weakened as a result. I deal on a regular basis with having to recalibrate all my medications (and there are a ton!). I'll never have a "normal" energy level and will always struggle to feel "normal".

But in the 9 months since surgery, my life has changed drastically for the better. I'm back in school and I take taekwondo. Hopefully over the next few years, things will continue to improve, but I will never be able to leave it behind. I will always be getting brain scans to check for tumor regrowth (these tumors are nasty little buggers that are incredibly hard to get rid of!). I'll also always have to have all my pituitary hormones checked due to the fact that it could eventually shut down because of the damage done by the tumor.

I hate this disease, but I love all the friends I've made because of it. I'm thankful for it because I've been able to do, see and experience things I never would have if I didn't have this disease. I wouldn't have found a major at school that I really do love. I wouldn't have met several people that have influenced my life tremendously because we never would have crossed paths if I would have been "normal".

 

[gallaj0]

I have Immuno Thrombocytopenic Pupura; it's an autoimmune disease where your immune system targets and eliminates the platelets in your blood. I had a splenectomy which helped for about 18 months , then platelet counts went back down. Platelet levels drop low enough, you get spontaneous bleeding from the nose, gums, etc, and potentially a brain hemmorage. I get my blood tested every couple of weeks, and been through 2 bone marrow biopsies already. Next step is some kind of chemo drug therapy, if levels drop low enough to warrant the side effects.

 

[HugsForEeyore]

My nephew has a syndrome called acrocephalopolysyndactyly type 2. Took me awhile to learn to say that! The syndrome causes a severe skull deformity - basically almost all his sutures of his skull fused before birth, resulting in a "tall" narrow skull and other deformities of the midface. He had surgeries as a baby but the sutures fused again. There is no way to fix his skull anymore than it is, so how he looks now (age 15) is how he stays. He also has mild deformities of the fingers and toes, short statue, and learning disabilities. We doubt he will work and live on his own, and the family is already preparing for that. Emotionally he is very young, still loves his stuffed animals and going to Chuck E. Cheese. Overall he is very happy and super agreeable, and a joy to be with.

I used to babysit a girl (now aged 17) who was born a genetic condition called VCFS - Velo-cardial-facial syndrome, a microdeletion on the (I think) the long arm of chromosome 22. It caused a severe heart deformity, bizarre behaviors and anxieties, plus some very significent learning disabilities. Her family is very supportive and know her limitations so hopefully she will be OK in adulthood.

I also had a good friend from college who had a degenerative disease called Frederick's Ataxia. She was fine as a young child, but started walking with a funny gait around age 6 when she was diagnosed. From there, she needed a walker in high school, to a motorized wheelchair in college. Sadly she lost almost all ability to control her muscles, including the ability to chew. She died 5 years ago, and I only found out recently. But one good thing is we did manage (with the help of another nursing student friend) to take a trip to Disney World together, so some happy memories there.

Best wishes to everyone dealing with these rare conditions.

 

[MoniqueU]

I have retinitis pigmentosa. It is a closing of the peripheral vision field that has left me legally blind and losting my central vison as we speak. It eventaually leads to blindness. I have lost 85 percent of the area I see, have trouble seeing ieven in conditions that would be light enoguh for everyone else. Recently I have seen a decrease in my hearing whcih is a sign of an even rarer disease called ushers. That leads to both blindness and deafness. I haven't botered to go get tested for that as I just can't handle anything else. Steve Wynn tthe owner of Weynn casino in Las Vegas has TP too. No cure and very little funding.

I will read the rest of the pssts and stories tomorrow when I can see better. My heart goes out to anyone suffering pain associated with what they are going through. My good friend has a rare neve disease that is attacking her organs and is in imense amounts of pain. It is so hard on her and her family.

 

[pwdebbie]

I decided to see if my husband's disease, antiphospholipid anitbody syndrome, was listed on the NORD (National Organization for Rare Disorders) and it is, so I guess he's on the list of those who have a rare disease. Basically, it is an autoimmune disease where the body is attempting to destroy itself. His lungs are particularly affected.

Also my grandson has Klippel Trenaunay Syndrome. About half his body has port wine birthmarks and one side of his body is larger than the other. His big leg and foot don't slow him down, believe me!

 

[lemondog]

I checked out NORD to see if any of my diagnoses were listed, and I'll be darned if all THREE of them were not on there. Go figure! Mine are thalasssemia minor, hidradenitis suppurativa and lichen sclerosus.

The first is genetic, the second may or may not be, and the third is an auto-immune condition. The second and third are both skin conditions and luckily I have mild cases, although lichen sclerosus is rare in pre-menopausal women.

None of them really affect my quality of life dramatically, and for that I am truly grateful.

 

[minkydog]

I checked out NORD to see if any of my diagnoses were listed, and I'll be darned if all THREE of them were not on there.

Doncha just love that? My DH has a rare form of a relatively common disease, sarcoidosis. In most people, sarcoidosis merely affects the skin and lungs, causing coughing and fatigue. Most people don't have to do anything, or they take a short course of steroids and they're back up to speed. Not so with DH. In a very few cases, sarcoidosis because progressive and eventually fatal. DH has it in his brain, heart, lungs, joints, sinuses, and skin. His lungs are so full of it that he only has about 30% lung function now.He takes 23 medications daily just to survive. DH is totally disabled and will never be any better than he is right now. We know that sooner or later, sarcoidosis will kill him. Still, to look at him you'd never know he was so sick. He looks healthy to people who don't know him. Even his doctors used to brush him off with "Oh, you look great." That is, until he almost died one night. And since then he has had several near-misses. Now his docs take his health very seriously because they know that he can look great, but be circling the drain in just a few hours.

 

[mickeymedic]

I have psoriatic arthritis. It is an auto immune disease similar to rheumatoid arthritis - so basically my immune system is eating my joints. Unlike rheumatoid, my symptoms are not symmetrical - it doesn't affect both knees at the same time, or both wrists at the same time, etc. It took forever to get diagnosed because it didn't fit the pattern of typical arthritis and the blood tests always come back negative. So anyway, I take medication to keep my immune system in check and I have been fortunate that I don't have more joint damage at this point.

Hugs to all of you who are dealing with rare diseases!

 

[MnMomtoboys]

Our son Kevin has Coats disease which is one leaking blood vessals in the eye. He was dx at 13 months and has had 10 eye surgeries on his right eye. As of now he is legally blind in that eye with a retina that is stretch to the point of seperation.

At the time Kevin was the youngest child to ever be dx with this disease but that is no longer the case.

 

[pwdebbie]

Doncha just love that? My DH has a rare form of a relatively common disease, sarcoidosis. In most people, sarcoidosis merely affects the skin and lungs, causing coughing and fatigue. Most people don't have to do anything, or they take a short course of steroids and they're back up to speed. Not so with DH. In a very few cases, sarcoidosis because progressive and eventually fatal. DH has it in his brain, heart, lungs, joints, sinuses, and skin. His lungs are so full of it that he only has about 30% lung function now.He takes 23 medications daily just to survive. DH is totally disabled and will never be any better than he is right now. We know that sooner or later, sarcoidosis will kill him. Still, to look at him you'd never know he was so sick. He looks healthy to people who don't know him. Even his doctors used to brush him off with "Oh, you look great." That is, until he almost died one night. And since then he has had several near-misses. Now his docs take his health very seriously because they know that he can look great, but be circling the drain in just a few hours.

The family doc mentioned last year he wanted to check dh for sarcoidosis but wanted to see if adjusting some of his meds would help first. My dh doesn't look sick either to people. And in the warmer weather, he golfs nine holes on the little course around the corner just about every day. People think he must be in good shape because he golfs so much but they don't know that he pushes himself to do it and then sleeps when he gets home. People only see him at his best and think he isn't really disabled.