Rare Disease Day 2010

[Eeyores Butterfly]

I am facing the possibility of this right now. I don't know if it is actually a rare disease, but it is one most people don't know about- even many doctors.

It is known as type 1.5 diabetes or Latent Autoimmune Diabetes in Adults (LADA). Right now I am a Type 2, but I have not followed the normal type 2 progression. I was only 23 when diagnosed prediabetic and have zero family history. I was very thin and active until a mere two years before diagnosis (and I believe I had it one year before being diagnosed). My symptoms were not the normal symptoms, and in fact, one year before my official diagnosis, I sought help only to be told I was lying and making a big deal out of nothing. If it weren't for the people on the DIS, I would not have sought a second opinion.

LADA is also sometimes referred to as slow-onset type 1 and is often misdiagnosed as Type 2. Symptoms include older than normal age, lack of insulin resistance, initial response to diet changes and/or type 2 medications, lack of obesity, and faster progression to insulin dependence than type 2.

 

[lemondog]

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.

Now THAT is the craziest thing I have ever seen! How long do the welts last before going away?

 

[PlainJane]

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...

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...

Thanks for all the info. I knew EDS could negatively effect other organs, but I was unaware that any form could have associated health concerns.

I guess, I'll have to have another go at trying to see a geneticist.

 

[rn2b]

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.

LaraK, my son was just diagnosed with this EE in Sept of last year, it is quite a long road from what I can see.....

My other son has a rare condition aural microtia and atresia where there is no ear canal at birth and a small or absent outer ear. Aural atresia affects 1/10,000 and requires very specialized skilled surgeons, not your local joe schmoe dr.....

 

[LaraK]

LaraK, my son was just diagnosed with this EE in Sept of last year, it is quite a long road from what I can see.....

My other son has a rare condition aural microtia and atresia where there is no ear canal at birth and a small or absent outer ear. Aural atresia affects 1/10,000 and requires very specialized skilled surgeons, not your local joe schmoe dr.....

The testing to find out what is causing the flares can take years. You get used to the endoscopies. The patch testing was the worst for my son because of the pain associated with pulling off the tape (it ripped every hair off his back and was horrible. See if they'll let you shave your son's back before you do this testing). Good luck! I hope they can find your son's allergies. If you meet resistance, go to Cincy or CHOP.

 

[rn2b]

The testing to find out what is causing the flares can take years. You get used to the endoscopies. The patch testing was the worst for my son because of the pain associated with pulling off the tape (it ripped every hair off his back and was horrible. See if they'll let you shave your son's back before you do this testing). Good luck! I hope they can find your son's allergies. If you meet resistance, go to Cincy or CHOP.

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?

 

[mjkacmom]

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.

 

[KPeveler]

Thanks for all the info. I knew EDS could negatively effect other organs, but I was unaware that any form could have associated health concerns.

I guess, I'll have to have another go at trying to see a geneticist.

Not all people with EDS have all or even any of these other problems. I happen to have a particular manifestation that is causing neuro probems, I can never get pregnant, have things like fibro and dyautonomia, etc...

Some people are just bendy and have the associated joint problems.

I suggest you try to see Dr Francomano in Baltimore - she is the world expert!

 

[JustineMarie]

I have ADEM - which stands for Acute Disseminated Encephalomyelitis. It is actually a varient of MS but it comes on acutely. I had the flu in Dec of 2008 and it actually turned my immune system to attack itself. It attacked my brain and my spinal cord. I was in the hospital of almost 3 weeks and was paralyzed for about a month. It was a slow recovery but I am now walking without assistance. I hope it doesn't come back - but it's a neuro disease and unfortunately there is still alot unknown about it since it is so rare.

 

[bellebud]

my dh and both my children (dd10 & ds8) have Hyperkalemic Periodic Paralysis. It's catagorized under muscular dystrophy. They've traced it back in my dh's family to Ireland. Horses can also have this condition. If you have it, all your children have a 50/50 chance of having it (that really stinks!!) My dh was 1 of 5 children, and he's the only one who inherited it from his mom. We had 2 kids, and both have it.

To briefly explain it, they have too much (hyper) potassium (kalemic) in their bodies. They get 'attacks' as we call them when their levels go out of whack, which can happen from many things, but common triggers for attacks are vomiting, cold temperature, not being able to get up and move around (sitting at a school desk was hard for my dh - we're homeschooling the kids as of last year and it's awesome!), hard exercise, sleeping in the middle of the day, eating too much potassium or sodium, my dh says slippery (silk-type) sheets (I guess not being able to get a grip with your legs)... many more things too. When they get an 'attack', their skeletal muscles get temporarily (periodic) affected, which can be anything from weakness to full paralysis (paralysis). It's not considered to be life threatening, which I'm thankful for. DH has many relatives out on SS-disability because of this, and DH has it worse than anyone else in his family, but he plows on, so far. He's 44 and talks about not knowing how much longer he's going to be able to work though. Living in the northeast is also not a good thing, since temperature is a big trigger. We have it on the list to move south, but we own our own business, so you can't just pick up and move. Anyway, the weakness and/or paralysis can last hours to days (my dh lasts longer - like a week for a bad attack). He's volunteered for research going on in Rochester NY (we were very lucky - a doctor up there got a grant for some research). They tell my dh he actually has symptoms of both hyper and Hypo forms of the condition.

My mil's family always just lived with it, but my fil got so frustrated when dh was a teen (it wasn't officially diagnosed then), he brought dh down to NYC and they tested, and tested, and tested (cut out a big chunk of his thigh muscle to do testing on), electrodes on his body, etc, etc,... and the very last test was drinking potassium. Bingo!! Full paralysis. There were only a few families in the US at the time - at least it's on the books now and although most doctors don't know about it because it's so rare, they can look it up. There's also a high risk of Malignant Hyperthermia (fatal condition brought on by anesthesia). They say if the doctors know about it beforehand, they don't give certain drugs, and monitor closely. DS8 needs his adenoids removed (he has mild to moderate sleep apnea), but I'm really scared to put him under, but the poor kids doesn't sleep well, always has dark circles under his eyes, and is hyper sometimes (that overtired kind of hyper). What to do... what to do...

anyway - to everyone dealing with a rare (or common!) disease. Ours is mild compared to most i'm reading here... makes me count my blessings when I get down about the kids having to deal with this.

 

[PatsMom]

My brother and sister in law are searching for a diagnosis for their 2 1/2 year old daughter. She has had extensive testing, including genetic tests which were sent to the Mayo Clinic. No one can seem to determine the reason that simply fails to progress. The more common diseases such as Fragile X, autism, etc have been ruled out. They have found some chromosomal abnormalities but nothing they can specifically say cause her problems.

While searching for a diagnosis, they are getting her physical therapy, etc. She is not stricly non-verbal since she makes varying noises - you can definitely tell her happy noises from her unhappy noises. She is starting to crawl, but no effort to walk yet. She is finally self feeding although she ruminates. Rumination is basically an eating disorder where the children spit up their food for no reasons. They re-chew and swallow.

She's going on her first trip to Disney this September with her mother and older sister. My husband and I are taking them just before my nieces 3rd birthday. She definitely enjoys sounds and colors so we think she'll have a great time. And she is still small enough that we can lift her when necessary. Although she will have to be supported on attractions where we take her out of her stroller. She is "wobbly" when sitting. We will get a GAC to use her stroller as a wheelchair.

 

[Tricia1972]

My sister has one of the rarer types of brain cancer. Her tumor has glial cells and neural tissue which is very rare in brain tumors. (affecting less than 1% of brain caner patients) Her tumor is called "glioneuroma", and unfortunately the growth of her tumor indicates that it is very closely related to glioblastoma multiforme.

She's doing well and fighting the good fight, which is an absolute miracle that we're grateful for. Unfortunately her rare disease can't be used as a cool party trick

 

[daughtersrus]

My brother and sister in law are searching for a diagnosis for their 2 1/2 year old daughter. She has had extensive testing, including genetic tests which were sent to the Mayo Clinic. No one can seem to determine the reason that simply fails to progress. The more common diseases such as Fragile X, autism, etc have been ruled out. They have found some chromosomal abnormalities but nothing they can specifically say cause her problems.

While searching for a diagnosis, they are getting her physical therapy, etc. She is not stricly non-verbal since she makes varying noises - you can definitely tell her happy noises from her unhappy noises. She is starting to crawl, but no effort to walk yet. She is finally self feeding although she ruminates. Rumination is basically an eating disorder where the children spit up their food for no reasons. They re-chew and swallow.

She's going on her first trip to Disney this September with her mother and older sister. My husband and I are taking them just before my nieces 3rd birthday. She definitely enjoys sounds and colors so we think she'll have a great time. And she is still small enough that we can lift her when necessary. Although she will have to be supported on attractions where we take her out of her stroller. She is "wobbly" when sitting. We will get a GAC to use her stroller as a wheelchair.

Have they checked her for any Lysosomal Storage Diseases? My DD went through over 7 years of testing (blood, urine, chromosome, CT, MRI, MRS, Ultra sounds, X-rays, skin biopsy, fibroblast of the skin...) . Some of these tests were sent out of the country to be reviewed. It was the 5th geneticist that was finally able to diagnose her. Apparently she "passed" some of the tests that we've since learned are only "screenings" so the other doctors didn't pursue further testing.

The weird thing is that NORD used to have a search feature where you could plug in symptoms and it would pull up all of the diseases that had those symptoms. I had done that long before and came up with Alpha Mannosidosis. I asked all of the geneticist if she could have this and they all said no because she passed the Urine Organic Acid test. Sure enough the last doctor told us that the UOA is only a screening. DD was diagnosed with Alpha Mannosidosis on Sept 11, 2001. Had we gotten the diagnosis years earlier when I asked, she could have had a bone marrow transplant that would have stopped the progression of the disease. Sadly, she was no longer a candidate for the BMT because the disease had progress too far.

Storage diseases are often overlooked by many doctors. I can't tell you how many times I've heard a doctor say that these are the diseases that they gloss over in medical school and tell you that you'll never see a patient with one of them.

I hope that you all have a wonderful time on your trip! We've been twice with my DD and she LOVES it! Especially the light parade.

 

[PatsMom]

Have they checked her for any Lysosomal Storage Diseases? My DD went through over 7 years of testing (blood, urine, chromosome, CT, MRI, MRS, Ultra sounds, X-rays, skin biopsy, fibroblast of the skin...) . Some of these tests were sent out of the country to be reviewed. It was the 5th geneticist that was finally able to diagnose her. Apparently she "passed" some of the tests that we've since learned are only "screenings" so the other doctors didn't pursue further testing.

The weird thing is that NORD used to have a search feature where you could plug in symptoms and it would pull up all of the diseases that had those symptoms. I had done that long before and came up with Alpha Mannosidosis. I asked all of the geneticist if she could have this and they all said no because she passed the Urine Organic Acid test. Sure enough the last doctor told us that the UOA is only a screening. DD was diagnosed with Alpha Mannosidosis on Sept 11, 2001. Had we gotten the diagnosis years earlier when I asked, she could have had a bone marrow transplant that would have stopped the progression of the disease. Sadly, she was no longer a candidate for the BMT because the disease had progress too far.

Storage diseases are often overlooked by many doctors. I can't tell you how many times I've heard a doctor say that these are the diseases that they gloss over in medical school and tell you that you'll never see a patient with one of them.

I hope that you all have a wonderful time on your trip! We've been twice with my DD and she LOVES it! Especially the light parade.

Lysosomal Storage Disease doesn't sound familiar so I am going to pass this along to my sister in law. Thanks for the good wishes for the trip! And thanks for the tip. The whole family is just so frustrated that no one can tell us what is causing the severe developmental delays.

 

[daughtersrus]

Lysosomal Storage Disease doesn't sound familiar so I am going to pass this along to my sister in law. Thanks for the good wishes for the trip! And thanks for the tip. The whole family is just so frustrated that no one can tell us what is causing the severe developmental delays.

I just wanted to clarify that Lysosomal Storage Diseases are a group of diseases, not one disease in particular. I think that there are about 40 or so of them. My DD has Alpha Mannosidosis, one of the rarest. There are only about 200 people in the world with this diagnosis but we have no idea how many are undiagnosed. In our DD's case, she has recessive genetic disease but all of us (DD, DH and myself) passed the genetic testing. We later found out that these tests again are only screenings. They are looking for extra material and missing material but not specific recessive genes.

 

[CapeMayMommy]

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.

Both of my children have Thalassemia Minor. Their father has it also.

I didn't realize that it was that rare, but I do know that they need to be aware of it if they have children with another person who has Thalassemia Minor.

Someone else in my family has polycythemia rubia vera. His bone marrow creates too many red blood cells. He must have blood removed from his body every few weeks or he will become sick . It effects 5 people in a million.

 

[honugirl]

I've got Cushing's Syndrome. The crappy thing about this disease is that dogs, cats, and horses have better diagnostics and treatments than humans do. There currently is no real "cure" or at least what I would call a "cure" anyway. The best treatment option in many cases is removal of the adrenal glands which I'll have done in the next 2 months.

 

[Green Tea]

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.

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.

 

[Sleepy]

I have a rare form of an eye disease called Thygeson. It is so rare that when a doc gets a patient with this condition, they want to call other docs in to get a peek.

No known cause.

Treatments tend to cause more harm than good.

No cure

Symptoms of the disease is watery eyes, extreme light sensitivity, pain, halos around lights at night, and some other stuff. It basically is a disorder of the cornea that causes small spots of erosion that comes and goes. Doesn't cause long term damage or blindness....thankful for that!

 

[Piglet]

My DD has Glycogen Storage Disease Type 1A also known as Von Gierke Disease. She is missing an enzyme in her liver that processes certain types of sugars. The enzyme she is missing works to help the body breakdown the storage form of sugar to free sugar to use when we don't eat which results in hypoglycemia, enlarged kidney's & liver and risk of seizures and tumors.

http://www.agsdus.org/html/typeivongierke.htm

Thanks for the thread - we are working hard to raise money for a cure!!!

Melinda