World Rare Disease Day

In recognition of Rare Disease Day 2010, Inspire and the National Organization for Rare Disorders conducted a survey of Inspire members with rare disorders.

The results are enlightening, and I encourage you to take a look at the survey, linked at the end of this page.

Many people wrote to share additional experiences, and some of the stories I liked most were from members who had met another person with their condition for the very first time here in the community.

A few highlights: Of the 554 respondents,

- 68% have a rare disorder, and 32% are caregivers.
- 81% are female, and 19% are male.
- The average age is 47, and the median age is 48.

- 41% reported that their doctors are not knowledgable or barely knowledgable about their disorder.
- 58% said they are receiving treatments that are moderately or highly effective.

- 37% are not sure if there are FDA-approved treatments for their rare conditions
- 45% are not sure if there are off-label treatments for their rare conditions

- 22% first met another person with their condition through the Inspire community.
- 58% said being a member of the Inspire community has improved their health.

- 41% were not previously familiar with Rare Disease Day.

To read the complete results of the survey, visit this page.

To join the rare disease community if you're not already a member, click here.

Thank you,
Brian

Edited February 26, 2010 at 2:21 pm

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26 replies. Join the discussion

Thank you for sharing this.

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Good on you Brian. You have made many sick and scared people understand they are not alone and for most there is hope and a future.

If you surveyed the sarc community, however, that 41% figure for doctors would be closer to 80% and the real shame is, if they are not specialist sarc experts, they have no interest in furthering their knowledge, only taking a fee and I sure that is the case, for most rare disease patients.

Cheers

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My pain specialist said he did not care what my Pain was, just that he was going to treat my pain. Without him knowing a thing about Tarlov Cysts, he can not treat me right. I still sit in horrid pain and cry most nights to sleep. I wish he would know more about my disorder and help me appropriately

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Hi Brian,

Thank you for your time and sharing the stats. I found it very interesting. I am thrilled to see the participation and enthusiasm for Rare Disease Day.

Sending my best to you, your staff, and the members of Inspire. ;)

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is Secondary FSGS considered a rare Disease?

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Thank you for posting information on the World Rare Disease Day. Here is a link to a news release on the Global Genes Project. "hope - it's in our genes"™

http://www.prnewswire.com/news-releases/global-genes-project-to-raise-aware ness-for-millions-of-children-living-with-rare-disease-83232467.html

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I think a good question would have been something along the lines of "if you think your doctor does had not adequately treated your condition/pain did you switch doctors? get a second opinion?"
I find a lot of people stay with doctors that are rude AND not even helping particularly.

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When it comes to spinal cord and head injuries... each person has different symptoms... rareness in a way that they have varied recoveries... varied pain , function or sensation, varied symptoms and various internal difficulties, varied economic and or medical access advantages.... One approach would not necessarily work with a different one. When you look at all the variables that can happen... I think rare would apply to just about anyone. I would hope that people with cancer would have an ability to connect to someone with cerebral palsy... that a woman with sarcoidosis could connect with a man with paraplegia... I have a close friend who died young at 50 of lung cancer last year...I have a father who is suffering from parkinsons and heart disease and can no longer bath... I have a daughter who is a quadraplegic with a severe head injury from a hit and run accident almost 5 years ago now... I am able to walk and talk... I have herniated discs in my neck and have chronic pain... and yet... I feel for the Mom who is working hard to care for her child with Down Syndrome.. and the daughter trying to help her mom dying from cancer... I work in a nursing home and see that one day we all may be very compromised before our death... born in diapers and end up in diapers... It is yes a difficult journey, all unique, and yet all the same. The heartache is the same. The joys and small successes are the same. The need for others to be understanding is the same.

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Very well put!!

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I don't know, I have not heard that FSGS is a world rare disease. Is this thread talking about other diseases or is FSGS included? Please don't get annoyed because I'm asking this question, I honestly don't know and am curious.

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Sarah is 16 & has nf2 & marfan syndrom.I was told a couple of years back that she is 1 in 5.cool hu.Most of the doctors we meet have no clue so I mom educate them.We keep our spirits up because it could be worse.Dont get me wrong theres plenty of pain and sergerys,but thats not our whole life.mom

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Forgive my ignorance but I don't know what diseases qualify as rare, so I'm not sure how to answer the questions.

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Again third try!!! Is FSGS in the rare disease catagory? I have not heard that from my doctor or anyone. Forgive my ignorance too.

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I'm not sure whether FSGS fits the rare disease category, but maybe you could get an answer with a visit to the NORD Web site? Or a query to NORD? (www.rarediseases.org)
Good luck.
Lisa

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I personally thing anything that can't be determined is rare and a diease. I thing I had several doctors with little or no knowledge of anything rare and not willing to give effort without proper insurance.

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hi
not only are docs rude and think they are G-d but they are out right lacking knowledge.one doc wanted to put me in a psychiatric unit claiming only she could help me.i of course went for another opinion and was referred to a high ranking specialist who examined me thoroughly,and dicovered i had a big growth on my spine which required 11 1/2 hours of sugery,2 weeks intensive care and 3 months in house rehab at which time i was also diagnosed with a.l.s. again(i have it 27 years).i'm still getting hydro and physio at the rehab,and my condition is worsening.
i called the stupid psych doc who is a neurologist to tell her what transpired and gave her a real dressing down,if i had listened to her i would not be alive today,i would be dead long ago.
G-d help us and protect us from such terrible ignoramuses.

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i had a plasmacytoma in the L5 vertebrae; i am told i will surely develop multiple myeloma in the future; i am a woman in her 60's and it is more common in men and african-amer men; i wish i could communicate with someone like me and preferably a woman, as i am doing everything nuitritionally to avoid sugar etc ,as to not invite cancer into my body again. i am also a breast cancer survivor.

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I was diagnoised with cholangiocarcimoma Sept 11, 2009, I took it upon myself to learn what I could of this cancer asap. It told me that the best option was the Mayo Clinic in Minnesota. So I wrote them an email on Thursday, got a response Friday asking me to come to the Clinic that Monday. I couldn't go that quickly, but I did go that following Monday and started treatments after tests almost immeditely! What a blessing to know that there are hospitals out there that take you serious, and give you the opportunity to go right into treatment, with testing. I am now in semi remission and feel great. I know whit out our Lord Jesus Christ guiding me to contactr the Mayo I would not be here today. Be your own advocate, and research all you can on your disease. Together with God you can make a difference to your own health care! I want to live as long as I can and enjoy life and if I have to work on it with Jesus by my side I will!

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Thank you for your interesting post. I hadn't heard of NORD before. I am not exactly sure what consitutes a rare disease. Is Prinzmetals angina with V. Tach Arethymeyia considered a rare disease? If so, I am amazed at how many people on this website that have it. It has been very supportive to me to be able to discuss this condition with other people with similar symptoms and diagnosis. I feel far less isolated and am doing much better whether the support of the meds. Thanks to everyone out there for their support and for caring for each other enough to share their experiences and knowledge.

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I'm not sure what is included in the term "rare diseases".
What may be rare for me and my family might not be rare in another family or environment--at least as I see it.
Is there a clear definition?

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