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What is a Rare Disease?

foreverinbluejeans
0 Recommendations

In the United States of America, the Rare Disease Act of 2002 defines rare disease strictly according to prevalence, as "any disease or condition that affects less than 200,000 persons in the United States," or about 1 in 1,500 people.

My Rare Disease is Common Variable Immune Deficiency and it affects 1 in 50,000 people. My 3 sons also have CVID. I was diagnosed 21 years ago and I have not met anyone with CVID.

A disease that affects 1 in 1,500 doesn't seem all that rare when you have a disease that affects 1 in 50,000. There are only 200,000 of us in the US with rare diseases! I wonder how many people have a disease that affects 1 in 50,000 or less.

I have two lives. I don't look like there is anything wrong with me. I look at least 10 years younger than I am. When I was in graduate school I was able to not tell anyone about CVID. I don't have to tell if I don't want to.

The other live is my medical life. Having to have IVs, all the medical appointments, hospital stays, ect. Always having to think about where I am going, what I am doing and the risk of infection. Not being able to do things I want to do because of CVID and my other medical issues.

When this website started it seemed only people with with Rare Diseases knew about it. Now other people, normal people, have found the site. They list their symptoms looking for diagnosis or sympathy. I find their lists of symptoms irritating compared to what we, people with Rare Diseases and chronic pain, have to live with.

It's too bad we can't have this website for ourselves. Why don't people have to have a rare disease to sign up for the site? For now I will avoid the things that irritate me.

Explore topics in this discussion:

Cancer Surgery Arthritis Brain tumors Chronic pain Meningitis Melanoma Stroke Autism Neurofibromatosis Pain Lupus Rare diseases Epilepsy Tremor

17 replies

SickOfBeingSick

Hi t-head,

Welcome to the group. I can totally relate to not being able to plan anything from day to day and with being alone. I also have severe nerve pain, as do others here. I hope you find the support you are looking for here.

Cathy

tdhssp

Tamyra, I just read your post from July 7th and your view made me think of a negative experience I encountered with a door-to-door fundraising solicitor that still leaves me sour. The man was gathering funds for - let's say, a less rare/more well-known condition - and when I replied that I respect all efforts to support causes, but had a child with an extremely rare chromosome duplication that I opt to support, he persisted... He attempted to guilt me out for not funding the cause dear to him: "Surely you can afford $20?" He remarked. WELL, when someone chooses to dishonour another person's opinion and imply that their cause is more important, I get a little irate! So, I told him, "Okay, you give ME $20 for my little girl's condition and I will give you $20 to support your cause". He visibly got very angry and stormed off! Gosh, that was such a poor way to achieve response for a cause!! While I do provide funds to other more well-known causes - when I can - I do tend to want to support the one closest to my heart. So little monies go towards a disorder that does not even have a name beyond its chromosome description that I feel it is imperative to do so. Again, RESPECT, RESPECT, RESPECT!!! : D

Velvet

(\ -- /)
( \()/ )
( / \ ) TAKE THIS LITTLE ANGEL ^j^
(/\/\) AND KEEP HER CLOSE TO YOU
/ \ SHE IS SENT AS A GUARDIAN
( ___ ) TO PROTECT ALL THAT IS TRUE

"Samantha's Syndrome"
http://www.tetrasomy18p.ca/

tdhssp

My daughter was born in 1993 with a chromosomal duplication disorder, an isochromosome of the small upper arm of the 18th chromosome; also known as Tetrasomy 18p Syndrome. It was a de novo event (meaning: Random, not hereditary.) The University Hospital who diagnosed had never seen a patient like our child throughout all its studies and could only find a reference in a medical text book describing "probands" (patients) who had been randomly reported in literature. Most of the information was archaic as well as incorrect; at least for my daughter.

Following research of 2 years, I located a Registry in the United States (I am a Canadian) via NORD called The Chromosome Registry & Research Society. It was founded by a mother of a child with separate chromosome 18 abberation... A mother who became a geneticist in order to understand her child's rare disorder and assist others struggling to gain knowledge and kinship.

At this time, there were 10 families GLOBALLY listed with Tetrasomy 18p Syndrome! We did what we could with the limitations of numbers and limited scope of computer availability at the time. We each corresponded by letter-mail and one father volunteered his efforts to compile a newsletter to reach others.

Today, there are a couple of hundred families registered. The increase, I suspect, is due to better availability of computers alongside increased genetic testing. Currently, statistics indicate:

"The incidence is 1 tetrasomy 18p birth per every 140,000 live births."

So, yes, I suppose the chromosome condition my daughter was born with would be considered extremely "rare"...

But, what about the scores of persons who do not have the privledge of computer access or genetic consultation? I suspect the numbers would vastly increase if those individuals had an opportunity to be factored in to statistics. What about other persons who have medical and developmental difficulties and no biological basis can be found? So many people live with conditions and do not even have a name/label to describe their difficulties. What about persons on the Autism Spectrum...? Those who may be high-functioning with Aspergers Syndrome, for example. Those in the middle of the Spectrum who have sensory issues? Persons with ADHD? Persons who are trapped in a body who cannot verbally express their needs and desires? Are they less rare to their families and loved ones...?

As a parent of a child on both ends of the disability spectrum, a Pediatric Hospital Spokesperson and Family Services Worker in Rehabilitation, I can tell you that support is needed everywhere. Just because a person has a condition that is loosely termed, ASD, for example, does not mean that he/she manifests with the same prognosis. Families are seeking correspondence with others that they can identify with plain and simple. For those who cannot even find the status of an actual diagnosis, they are left to fend amongst neighbouring support groups seeking therapies and education that will at least match the symptoms manifesting as closely as possible. My son, for example, is described as "Swiss Cheese" in development: He is genetically healthy and does not have the outward symptoms of his sibling with phenological differences (no outward physical characteristics indicative of a syndrome), he is not classified as being on the Autism Spectrum because he does not fulfill all criteria and yet he has sensory issues, difficulties with socialization and fine motor skill delays, including hand tremor. It just so happens that coping mechanisms and educational strategies often employed with children on the Spectrum, also work successfully for him and so we educate as if he did have ASD. So, we identify with the Autism Spectrum - which is not at all "rare" given that "1 in 80" boys are diagnosed with a form of ASD, yet do not have a concrete label that fits him. There are many of us like this... My history is but one story in a multitude.

The point is, it does not make sense to challenge others' need to seek information and kinship. We are each going through unique patterns of illness, disease processes or developmental challenges. To deny on the basis of quantifying the terminology of rare is both impractical and painful to the person seeking kinship and understanding.

I would hope that each of us who are here - no matter what the illness or condition that prompts the search for knowledge - has a big enough heart to look beyond themselves and realize that we each have struggles to endure... Rather a case of walking a mile in another person's shoes, so to speak. What may seem rare to one or challenging to another may be considered less of a trial to another facing similar circumstances. The point is, we are all in this world together and it is with acceptance and brotherhood that we will advance.

Sincerely,

Velvet Martin,
Administrator for Tetrasomy 18p Canada
http://www.tetrasomy18p.ca/
"Samantha's Syndrome"

(Samantha, beloved daugher of John & Velvet and sister to 4 brothers: June 4, 1993 - December 3, 2006)

t-head

I was diagnosed with glossophayrngeal neuralgia (GN) in 2003. The ENT doctor said, "I have good news and bad news. You don't have a brain tumor. You have GN and there's nothing I can do to help you. With that said, he shook my hand and walked out of the room. I was alone, in a lot of pain, and in a daze. Eventually I acquired gained knowledge, underwent surgery. To this day, I've never met anyone with the disease. I never know what to expect day-to-day. I cannot plan anything. A family member recently told me that she would never 'just drop by'. Guess I won't be seeing her! I'm so alone. I'd kill myself if I had the guts to do it.

gana

I was diagnoised with SPS in March 2009 after months of tests. Are there even a few others on this website? I'm always looking for more information & answers to questions.
Thanks
Ganana

Tamyra

Writing in discussion boards can be difficult, Nord is a place to write about how you "feel", if you are a member here you already have been looked down at because of how you felt and are feeling all alone. I can easily put myself in someone else's place. It's OK ...I can tell members here how jealous and angry I get when I watch a fun raiser for make a wish foundation, as mean as that sounds I have sent donations to the foundation. I cry watching the whole family enjoying their wish come true. You would think I was a heartless *B--ch* to be jealous of someone diagnosed with cancer. They have so many people who can understand what they are going through, they can go the the phone book or a social worker and find a hundred people who will help them, and the person in a wheelchair, complete strangers will step up and help them. Being rare seems to get no respect unless a doctor can find the cause and can write about you in the medical journal . "Rare" is scary and misunderstood, we are on our own, most times family don't understand what our life is really like, I feel sometimes they only ask how we are doing to compare you to themselves-they want just enough information to be sure "They don't have what you have". They worry you might be contagious-it's only fare because I worry about that too.

I guess what I am trying to say is, it's OK to have feelings, Here we don't even need to tell anyone our name, no matter what the disease or no name, it is a life change event it is comforting to know I am not alone. I don't lose a message board friend just because I had a bad day. Thank you to all who can read or write, (I'm not a good speller either but that isn't a prerequisite of illness) what ever your story someone here has read the book a hundred times.

Love and Light,
Tamyra

papdo

Here, Here! I totally agree with you. This site is dedicated with spreading knowledge about rare diseases, I know I used the NORD site heavily to help get a diagnosis on my disease (Fahr's.) Just cause someone doesn't have a rare enough disease for you, don't exclude them on that count!

Robert

caringcounterparts

Are you saying that only people who have received a diagnosis of a rare disease should be allowed to use the Rare Disease forum? What about those who don't yet have a diagnosis, and could very well have a rare disease? I had a rare brain tumor, but didn't know it until I had been participating on the NORD forum for a year. I was so glad I knew where to turn to when I got the diagnosis!

I also have rare symptoms related to what is considered a common disease. Is that enough to exclude me from the discussion?

Isn't NORD dedicated to educating people about rare diseases, connecting those who have them, and helping those who are seeking a diagnosis? In that case, this forum is doing its job. The more people who read this site, regardless of their conditions, the more awareness spreads.

Perhaps there are support websites specifically for your condition where you can find a group you can relate with more. Or perhaps you can request a discussion group on this forum for specific diseases. Or you could create your own discussion board and set up with the rules you want to have. Also, making use of the search tool can help you find the discussions you find relevant. Please don't discourage people who don't have a diagnosis from participating - they are fighting their own battle.

dragonfly1980

Hello, I dont really post much on here but I do alot on many other of inpire's sites. I have a diesae that affects 1 in 3000 people, My daughter also has the same condition. It is Known as Neurofibromatosis Type 1. My son's case is a 1 in a million. He had a stroke when I was pregent at about 4 months. He was taken early and then had to have 10 brain surgerys befor he was 1 year old.
Neurofibromatosis 1 is a tumor growing condition. We grow tumors on nerves, we also can grow them on the skin which causes difrementy. Sorry about the spelling is also causes learning disablitys. So my spelling is really bad. The list of side affects from this condition goes on and on. It can cause bone problems, hearing and vision loss, the more sever the case the more sever the complications. Some have lost limbs to the tumors causeing so much damage that they had to be amputated, and some have died. We have a high risk for brain tumors and cancer. This condition happens at birth it is a defect in chromosone 17. It is belived but not proven that that chromosone is a tumor reagulater of some sort and our (NFers as we call our selfs ) just doesnt work so we just keep growing tumors . Some are lucky and just get the cafe u la spots. Which are brown colored patches on the skin. Right now I suffer from a tumor in my back that is now causeing my legs to go numb and are always cold. I can bearly get out of bed some days. I also have a brain tumor, a tumor in my neck that wraps from the front to the back, and thousands of others. That was at the age of 17. Insurance companys keep dening me because of this condition, so I havent seen a doctor since I was 17. I know there are more now, just dont know how bad they are.
My daughter is 6 and she has at least 4 brain tumors that we know of right now. She gets MRI's every 3 to 6 months to keep a eye on the tumor growth. She may be needing chemo soon. One brain tumor is growing fast.
Rare condtions dont get the awearness that they need. I know not to many people have heard of NF (neurofibromatosis). I think if these rare condtions got more awearness like cancer and aids and all get, then they could maybe find better treatments or maybe even a cure for some of these. I dont mean to affend anyone by that last compent that was not what I wanted to do.

arielyn76

Hey there! I understand what you mean also about the rarity and such. I joined this site some time ago and have yet to find anyone with my disease, Posterior Scleritis. When I was diagnosed, my Eye doctor sent me to a specialist who in turn stood there and scratched her head. She had to call the university she graduated from and ask for help. Needless to say, countless doctors later, they told me of the disease that I have and through hard research, thanks to my partner and mother, I now know that only 4% of America is diagnosed with this.
It is disappointing when I can not find others with this problem however I have been able to help others in my town, become use to being blind and having to learn to "get around". Hopefully one day it will change for all those who can not find information they need or are searching for. Let us hope for that day.

Arielyn in hot Florida

Tamyra

I think all the "rare" is a difficult label all by it's self. It took 12 years before I even had a name. Before that I was diagnosed with many things, every specialist had a "name" for the symptom. I now have 32 conditions. I have been told, I am the only living adult with NK Cell deficiency w/ Zero function. For all they know about this, all of my symptoms may be only one "Rare" disease. If I would have settled for IBS and took my fiber like a good patient, if I would have listened to all the family and friends who thought my symptoms were all in my head I would be dead by now. I have been told by many doctors "I am sorry but you are too complicated, I do not feel comfortable treating you.
" ( I don't even get charged for the appointment)" I think we all started out with something that was not rare, we just knew it was something a little different because all the pieces didn't fit. I look back at my consultation notes, I just love the doctors who wrote things like "Her perceived symptoms" LOL.

I also can understand the frustration of people telling me well you look good! What else can the say?

I have the IVIG for CVID, I am embarrassed to be so weak and sickly, I also have selective antibody deficiency, melanoma, the NK Cell thing and lupus. The chronic pain is blamed on fybromyalgia-I don't believe that is correct, but at least it's the excuse the doctors use for pain medication.

When we were asked how to make inspire more helpful I mentioned I wish we had a place to list symptom and medical history. I would love to search for a person who has my symptom even if they don't have a name yet? For now I take notes and look for the common denominator.

I would love to hear more about Cowden's, my family is peppered with epilepsy and hormone problems, Some how I believe the auto immune diseases are somehow connected. Thank you for posting, remember what it was like when you first started your search for answers, and how many times people and doctors didn't respect your symptoms. We all started somewhere.

Love and Light,
Tamyra

Ieva

We have plenty of psychologists, but they are not trained to deal with chronically ill persons, at least I knew everything they were going to say before they had uttered it. But at least I have diagnosis and awareness that my disease is extremely rare….BUT I AM PROUD NOT BECAUSE OF ITS RARITY, BUT BECAUSE I HAD HELPED TO DIAGNOSE IT. Of course there is another problem: our people believe that treatment of rare diseases must be very expensive and results-poor. So I keep repeating that I do not need anything more than a well organized healthcare.....

SickOfBeingSick

Leva,

It's no wonder you are fed up with doctors after your experience. That comment was abusive. I too hate all the patronizing, minimizing, labeling and sexism that I and many of my friends have experienced or encountered through the medical profession. I would rather go to my dentist and have a tooth pulled than have to go to yet another visit to an MD.

You sound really traumatized by your experiences. I don't know anything about medical care in your country, but in the US there are some therapists that specialize in helping people who are dealing with chronic or life-threatening illnesses like cancer. I tried to see one of these specialists at one point, but couldn't get my insurance to cover it. Is this an option for you?

Cathy

librose

Foreverin bluejeans, My husband has SPS...That's One in a Millon!...You seem to know a lot about diseases...Could you shed some light on that one???...Some people come to this board because they have nowhere else to go...Lighten up on the ones that are not so rare...They are just trying to reach out...Any disease is sad...Be it 1 in a 1,000,000 or 1 in a 1,000...Good luck to you all...Librose...

SickOfBeingSick

Oops, feel a little guilty about what I said about the arthritis forum. I know that arthritis can be very painful, severe and disabling, just that I quite often don't have as much in common with those individuals as I do with individuals on the rare disease forum of Inspire.

Another issue I have with this board - why can't I ever edit my responses? There is a link to delete it, but not edit it.

SickOfBeingSick

Hi Foreverinbluejeans,

I understand what you are saying. I think this issue has occurred since this board transferred from being under NORD to being part of Inspire. Inspire.com includes support for many different types of illnesses that are not rare. Because of interconnection between the boards, people who do not have rare illnesses find their way here.

I too, was annoyed when I somehow accidently signed up for e-mail notices of new posts in the arthritis section of Inspire. My nervous system is also demyelinized, similar to UrsaBears, due to repeated meningitis. I can attest to the chronic, painful nature of this condition. Suddenly I was getting notice about threads of people doing extensive gardening and running marathons then complaining about their level of pain and inability to function when I have so much pain and am so sick that I can barely even get out of bed and don't dare even pick up anything breakable. It was quite discouraging until I figured out what had happened and began to focus just on the rare disease section of Inspire.

I don't know what the answer to this issue is unless this board is removed from Inspire or we create our own, new board outside of Inspire.

I think we need to be very careful how this issue is addressed, though. As UrsaBear and others have pointed out, there are people who don't have a diagnosis yet, or who have issues that medical science hasn't even come up with a name for, much less statistics regarding incidence. I don't want to see this board become some kind of exclusive club where we run people out whom we deem not to belong here.

I have also been diagnosed with CVID, but my CVID is atypical. Leave it to me to have a rare form of a rare disorder. It hurts when doctors and peers with CVID dismiss me and my illness because I don't "fit in the box".

I think the issue is a set-up issue because of interconnection between the various Inspire forums and is best addressed by changing the set-up of the board, rather than applying stringent criteria for posting here. A lot of Inspire posters that wander in here, probably don't even realize they are posting on a rare disease forum.

Cathy

foreverinbluejeans

Central Pontine Mylinolysis was first described in 1958 so it seems like ER doctors and nurologists would know about it. It involves electrolyte imbalance and problems with nerves (myelinolysis).

Myelin is a collection of fats and proteins that sheaths or covers the the long extensions of nerve cells. Lysis means death of a cell by breaking the cell membrane.

It is an acute medical condition, sever with sudden onset, that sometimes has chronic consequences. I haven't seen your other posts so I don't know if you have had ongoing problems. The prevalence, number of people that have the disease in the population, is unknown.

Your disease has had a name since 1958. When I was diagnosed in 1988 there was no name for my syndrome. There has been several names before agreeing on CVID just a few years ago.

I know what you mean by doctors not knowing what your condition is. It happens to us all the time. I know more than any of my doctors, even immunologists, about CVID.

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