Ideas for Change in America

  • 25 Million+, It is time to care about rare disease.

    The rare disease patient is the orphan of health care systems.

    There are close to 30 million people in the USA with rare diseases (a disease affecting fewer than 200,000 people).  There are close to 100 million caregivers for the millions of kids and grown-ups who have rare diseases.  There are close to 7000 rare diseases.  For more than 15 million people with rare diseases there is no treatment for their disease.  Research is scarce.  Many many people have no support group or foundation fighting for them.

    It is time to make rare disease a priority.  The rare disease community needs a registry of registries – a registry that would include information on many rare diseases.  Anonymous (“de-identified”) information could be searched (“queried”) for disease pathways, disease targets, effective treatments, overlapping health issues, etc.

    The time is now for better treatments and cure through a big silo-busting knowledge share -- for rare.

    - Catherine Calhoun Jan 30 @ 01:48PM PST

Comments (146)

68 older comments see the full discussion ^

  • Sue Horton
    Mar 05, 2010 @ 07:00AM PT
    Sue Horton

    Uniting to save our children is important.  These children with rare  diseases are gifted, talented, beautiful children.  God has given us a blessing of a child to protect.  We must do just that.  The parents of these children are indeed heros for their dedication to them and all that life has in store for them and their families.  Lighting one candle can make a difference but a roaring fire can not be ignored any longer.  Good luck Catherine and "B.B."

     

     

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  • Nancy Carney
    Mar 05, 2010 @ 10:55AM PT
    Nancy Carney

    I am the RN for Batten Disease Support & Research Association in which I watch these children pass away at the age of 3-4, or 6-7, or late teens and there is nothing at this date to help them.  At this time, we receive little monies from the federal government to help in research as compared to muscular dystrophy, etc.  I feel we should receive adequate funding to assist us in our research efforts.  In many states, our families fight we be able to qualify for minimal services for their children.  This is not acceptable.  Things need to change and we need to stand up and advocate for our children!

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  • Mar 05, 2010 @ 01:10PM PT
    B H

    My daughter has complete right side (bigger side) hemihypertrophy with macrocephaly.   She has a lift on her left shoe because of the leg length difference.  She has to have ultrasounds every three months and blood testst to check for increased risk of cancer in the kidneys and liver.  I voted to help stand up for her and everyone else on this planet who has a rare disease/disorder/syndrome...whatever you want to call it. 

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  • Maureen Tingwald
    Mar 05, 2010 @ 01:20PM PT
    Maureen Tingwald

    Our son Kenny was thought to have exzema and after almost a year of treatment found to be a rare disease called Histiocytosis. Currently there are roughly 250 confirmed cases in the world of his specific type which is Langerhans Cell Histiocytosis. Googling "rare diseases" in the form of a book or magazine..couldn't find it at all! This is known as a cancer-like disease but has the potential to kill like cancer. If I could get 2 wishes right now, they would be 1) create a yearly magazine regarding rare diseases and their current treatments, updates and then 2) get more government support to finance the research some of these doctors need to help find a cure or best life saving treatments with no long term effects. i don't feel I am asking too much....do you? Maureen in Missouri

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    • Jamie Young
      Mar 15, 2010 @ 05:01PM PT
      Jamie Young

      NO Maureen you are not asking too much as I want the same for my son Brandon who has been battling LCH since he was 3, he will be 16 this year on his birthday.

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  • T Heinzmann
    Mar 05, 2010 @ 03:02PM PT
    T Heinzmann

    Please research Angelman syndrome.

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  • Donna Young
    Mar 05, 2010 @ 05:51PM PT
    Donna Young

    My granddaughter has Angelman Syndrome and I would like to see more research focused on this rare genetic disease. Please make it one of your priorties.

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  • Donna Young
    Mar 05, 2010 @ 06:04PM PT
    Donna Young

    My granddaughter has Angelman Syndrome and I would like to see more research focused on this rare genetic disease. Please make it one of your priorties.

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  • Vicki McCarrell
    Mar 05, 2010 @ 08:30PM PT
    Vicki McCarrell

    Thank you Sharon.  My son has Moebius
    Syndrome and Hydroa Vacciniforme (allergic tto the sun).

    Vicki

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  • Forrest and Susan Westbrook
    Mar 06, 2010 @ 08:50PM PT
    Forrest and Susan Westbrook

    Our beautiful grandchild , Madeline, has  Angelman Syndrome. Never heard of this disease. We pray and hope for  promising and effective  research for this rare genetic disease for all AS patients  and their families.  Please conduct more ANGELMAN SYNDROME research,PLEASE!

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  • sharon berlan
    Mar 07, 2010 @ 02:18PM PT
    sharon berlan

    I have a rare disease called CHORDOMA and we need research for treatment desperately. You say "rare" is defined as 200,000 people. We are 300 a year. A real orphan disease but a tenacious one...People are dying...and please consider the CHORDOMA FOUNDATION for grants, publicity, attention...whatever you can do to help,  we beg of you.

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  • Susan Evans
    Mar 08, 2010 @ 08:46AM PT
    Susan Evans

    I also have a rare disease however we need to legalize marijuana until they find cures or ways of managing them. The marijuana that I eat in brownies and candies have helped manage the effects of my disease. Both of these issues are high on my list. It would be nice to know that while I am dealing with this disease and the associated symptoms that I will not go to jail for using marijuana to manage it.

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  • Karina Klimentjeva
    Mar 08, 2010 @ 02:16PM PT
    Karina Klimentjeva

    My little brother has Sanfilippo syndrome, we all love him so much, and hope for a cure.

    Please check out www.teamsanfilippo.org

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  • Tonya Nicholls
    Mar 08, 2010 @ 04:59PM PT
    Tonya Nicholls

    My son, Noah was born with Autosomal Recessive Polycystic Kidney Disease (ARPKD) and Congenital Hepatic Fibrosis (CHF). ARPKD and CHF is a developmental disorder of the kidneys and liver.

    ARPKD is a rare genetic disorder, occurring in approximately 1 in 20,000 individuals. It affects boys and girls equally and often causes significant mortality in the first month of life. If the child survives the newborn period, the chances of survival are good. For these children, approximately one-third will need dialysis or transplantation by the age of 10. Currently there are no treatments or cures for ARPKD/CHF.

    The best way to help Noah and this disease is to donate funds directly to the ARPKD/CHF Alliance. You can do this by going to their website at www.arpkdchf.org (click on the donate tab on the top right). In addition, you can learn more about Noah's condition on that website.

    There is also a YouTube public awareness video which can be viewed by going to www.youtube.com, just type in "Faces of ARPKD/CHF".

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  • Dannielle Diaz
    Mar 08, 2010 @ 05:11PM PT
    Dannielle Diaz

    My 9 year old is 40pds.. He is fed a specialized formula via g-tube and wieghs 39pds.(about 2 stone,18kg.) He endures weekly to bi-weekly infusions and is up for a new medi-port. The majority of his first 3 yrs. was spent in the hospital trying to just keep him stable. When he was 3yr. I ran into someone that was describng her daughters rare mitochondrial illness to a friend and it sounded horrifically famliar. She gave us her doctors number and unfortunately/fortunately we ended up in the hospital the next day and were lucky enough to have the geneticist on call. My son was diagnosed with a rare mitochondrial disease, severe food allergies, hypotonia, sjogren's and auto-immune issues. Unfortunately mitochondrial disease is passed down from the mother an d has affected all 5 of my children. 

    Our life is dramatically different than anyone I know which makes it very hard to find a support or friend. He/We have spent more birthdays and holidays in the hospital than at home and the true meaning of a good day for us means my children are all home with limited pain and some energy. The disorder my son has has no cure and minimal management. He is in constant pain, lathargic and nauseated. 

    I vote for rare diseases because of the life my son has been chosen to endure. I also feel that the rare diseases affect a lot more people than realized by most and deserves just as much attention as more commonly known illnesses. Please help!

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  • Linda K. Hammill
    Mar 08, 2010 @ 05:52PM PT
    Linda K. Hammill

    Please help research Angelman Syndrome.  It is a rare ubiquintin proteasome ligase disorder that begins at child birth, which severely affects these children both mentally and physically. 

    Other ubiquintin proteasome ligase disorders happen later in life (ie: parkinson's, alzheimers, huntington's, cancer (mainly cervical). 

    I do believe, if Angelman Syndrome was researched and they found a cure or pharmaceutical that helps, the other disorders may benefit also.

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  • Deborah Ross-Jagunich
    Mar 08, 2010 @ 06:40PM PT
    Deborah Ross-Jagunich

    I would like to see more research into many rare diseases but two that are dear to my heart are Russell-Silver Syndrome, a treatable dwarfism and Hay-Wells Syndrome, a dysplasia of the ectoderm. I know at my house, the more information and education we recieve, the better quality of life my 8 adopted children have.

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  • Robin Jacobs
    Mar 08, 2010 @ 08:32PM PT
    Robin Jacobs

    I have a cousin with Familial Dysautonomia also known as FD.  She is the loveliest young woman who has faced so much adversity, but always with a smile on her face.  There must be more research and more progress.

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  • Maux Nolan
    Mar 09, 2010 @ 08:07AM PT
    Maux Nolan

    I wish the wording were more.. direct.

    We want/NEED a database.

    Why?

    To prevent misdiagnosis: accidental death and grievous injury leading to permanent deformity. 

    -maux, the chick with the funny back and SPS

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  • Michelle Devine
    Mar 09, 2010 @ 10:29AM PT
    Michelle Devine

     

    You may also want to sign Patients Manifesto: http://wherearethecures.org/

    90 billion dollars a year is spent on medical research but the rate of treatment development is the same as ten years ago, when academic and commercial R&D had ten times less money. We need to change the system, we need better communication and collaboration tools, we need next generation science and development.

     

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  • Annmarie Aiken
    Mar 09, 2010 @ 12:58PM PT
    Annmarie Aiken

    Yes, I am voting on the rare disease,my son has congenital adrenal hyperplasia,and my niece's little girl has fibro sclerosis.

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  • Colleen Plunkett
    Mar 09, 2010 @ 03:04PM PT
    Colleen Plunkett

    Imagine a life without food?

     

    My son does

    He suffers from rare disorder

    called eosinophilic gastrointestinal disorder

     

    Check out www.apfed.org for more info

     

    Please help us

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  • Annmarie Kieffer
    Mar 09, 2010 @ 03:49PM PT
    Annmarie Kieffer

    My son has male turners mosaicism including short stature and high blood preasure.  He also has a heart defect. The are very few boys with this he has 60 % male chromisones and 40 % female.  He has been raise as and acts totally like a boy.

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  • Zoe Murdock
    Mar 09, 2010 @ 05:46PM PT
    Zoe Murdock

    My beautiful grandaughter has Angelman syndrome and may never speak, so I am speaking for her...please fund more research investigating this genetic problem!  There are indications that solving the ubiquitin issue will help many people with other diseases as well.  It's time to help these "angels".

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  • Kristen Lopez
    Mar 09, 2010 @ 07:14PM PT
    Kristen Lopez

    Please help save our children.  My son, Gavin, has a rare disease called Niemann-Pick Type C.  He's accumulating cholesterol in his brain.  Once a normal child, he is like that of an Alzheimer's patient.  We need support!

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  • Ben Stewart
    Mar 10, 2010 @ 11:24AM PT
    Ben Stewart

    Angelman Syndrome is an rare disease that I believe can be prevented.  If only there was more funding..My older sister has this syndrome, and when I was yonger scientists said they didn't have any idea of how long it would be before they  knew how to prevent, or what causes this to happen, recently  they have said in the next 10 years they believe they will know.. So I know progress is taking place..!

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  • Faith Moy
    Mar 10, 2010 @ 11:53AM PT
    Faith Moy

    We have a daughter with McCune-Albright Syndrome and would be so happy to see research being done with medications and treatment for all that is involved and especially fibrous dysplasia!

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  • rhonda jones
    Mar 10, 2010 @ 12:48PM PT
    rhonda jones

    research rare eye disorders/diseases, like RP and Stargaat's Disease. They can strike anyone at any age and rob a person of their sight.

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  • Terry Anderson
    Mar 10, 2010 @ 10:54PM PT
    Terry Anderson

    My middle son was born with MAS (McCune-Albright Sundrome).  I was charged with child abuse and jailed for a short time when he was 2 yrs old and his upper arm broke due to the fibrous displaysia.  None of the doctors here knew what they were looking at.  I thank God every day for finding The MAGIC Foundation - they had the answers and a network of other families who had children suffering from the same disease.  He is now 25 years old and is living a normal productful life.  God bless you all.      

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  • nusrat mehmood
    Mar 11, 2010 @ 01:14AM PT
    nusrat mehmood

    Hello,Great effort.I am supporting this idea and will share as much as possible here from paksitan.My two son aged 4 & 8 days died with Isovaleric Acidemia(IVA) in 2004 & 2006.Thanks god My third son Mohammed alive also  diagnosed IVA under the treatment of DR.Bushra Afroze in Aga Khan Hospital Karachi Pakistan.Thanks for supporting me by Abbott Nutritions  USA (by Barbara Marriage) as well as of OAA & Sigma-tau italy.Thanks to all.

    Nusrat Mehmood-

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  • Louise Peach
    Mar 11, 2010 @ 05:31AM PT
    Louise Peach

    Support this to find cures for rare eye diseases that take away the vision of people of all ages.  I hope something like this may help us to find a cure for my daughter's vision - she has a disease that does not even have a diagnosis yet.  Perhaps with more research and more support we would know what it is that is gradually stealing her vision and know that there may be hope for a cure.

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  • H Kenneth Schueler
    Mar 11, 2010 @ 08:06AM PT
    H Kenneth Schueler

    I'm so pleased to see many compelling disease advocacy groups  cited above. Don't forget about NORD [National Organization of Rare Disorders: http://rarediseases.org ] which is one of our most powerful advocacy, educational, and patient support resources for rare diseases.

    Ken Schueler

    HKS Patient Advocates

    www.HKSchueler.com

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  • Mar 11, 2010 @ 08:59AM PT
    Christina Frigo

    for my son who has an eye disease that has no cure/treatment and the outcome is little to no vision remaining.  God bless you all and were keeping the Faith that God will allow man to find a cure/treatment.

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  • Maria Sol Quintana
    Mar 11, 2010 @ 09:19AM PT
    Maria Sol Quintana
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  • Colleen Plunkett
    Mar 11, 2010 @ 12:34PM PT
    Colleen Plunkett

    Oh no we are in 9th place

    Please everyone get your friends to vote

    I started a facebook event on this

    So I could remind everyone to vote everyday

    Please join and remind your friends to vote everyday

     

    http://www.facebook.com/event.php?eid=351598122004

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  • gloria rochester
    Mar 11, 2010 @ 10:31PM PT
    gloria rochester

     

    I am the parent of a daughter that was dignose with sickle cell diseas it is excruciatingly painful, and their is no effeective treatment and no cure.

    Isupport funding, research and hope that some day soon they will find a cure for all diseases. keep up the good work, let us all vote for change!

    g rochester 

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  • holly schneider
    Mar 12, 2010 @ 06:00AM PT
    holly schneider

    Mitochondrial Disease needs more awareness too.  Please keep it in mind!! :-)

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    • kate kendall
      Apr 04, 2010 @ 05:18AM PT
      kate kendall

      Ehlers Danlos syndrome is a horrible, chronic, debilitating, painful syndrome.

       

      I was diagnosed at the age of 4 and am now 50-Still no new medication or developments!

      Yes, there's the Nationa Ehlers Danlos Foundation which delivers knowlwdge to beginners fo this Syndrome and helps those with this syndrome connect.

      However, we need more SCIENTIFIC developments-At least for medications that can help relieve the pain, and what about finding the gene causing the lack of collagen-I have to wonder if research is going on?

      After all these years, nothing new-Let's keep awareness going!

       

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  • Joy Sedgley
    Mar 12, 2010 @ 08:25AM PT
    Joy Sedgley

    We need more awareness for Ehlers Danlos Syndrome - all types!

    It is a connective tissue disorder and can be inherited or can be caused

    through a genetic mutation.  I inherited it but didn't know I had it unti

    I was 32 years old.  All my symptoms were never put together and it had

    gotten to the point I was told I was a hypochondriac.  Every symptom I had

    is EDS related. 

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    • Adell Shay
      Mar 18, 2010 @ 12:17PM PT
      Adell Shay

      I was diagnosed with EDS (Classic) when I was 50 after 16 major surgery, 7 strokes and countless illnesses. Absolutely all of that is EDS related.

      Though I was treated in several top medical hospitals in the world, no one recognized the symptoms. No fewer than 100 physicians treated me during the 20 years of advanced medical problems that occurred prior to diagnosis.

      Though each physician was caring and excellent, they lacked any practical training in recognizing EDS. To them it was simply a paragraph or two in a medical school book.  

      It would be most helpful for medical students to be introduced to rare disease patients and have the chance to examine them. I would be most willing to volunteer for that as would many EDSers I know. 

      Couldn't that be true for many of those with rare disease? It seems like a simple advancement toward medical health education.

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  • Irene Anne Cesarec
    Mar 12, 2010 @ 09:21AM PT
    Irene Anne Cesarec

    As a specialist in natural medicines, I think it's time to found also money to give hope to all persons or familys who has special health problems. It's crasy to know we fly to the moon and stars, but we are at all not able to reply to some diseases.

    Less money for bombs and army and more for the sciences.

    I have to say more, but the place here will never be enough.

     

     

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  • Elizabeth Woodward
    Mar 12, 2010 @ 11:15AM PT
    Elizabeth Woodward

    I am a 59 year old femalewho suffers from continous outbreaks of a staff condition called MRSA.(look up on google)  Unfortunately, I went to have my nails done 5 years ago and they used a dirty tool on me and they broke my skin. The nail tool was not clean and transferred MIRSA into my blood stream. It now is a problem because once MRSA enters your blood stream you are "cursed" for the rest of your life. I am colonized with this dreadful disease now and I am unable to have any surgeries because along with mrsa I have a mechanical valve in my heart. Gradually, your immune system becomes very fragile and you take various antibiotics. This too is very waring on the body

    About six years ago, I felt very tired and I was diagnosed with Mitral Valve Stenosis. I had surgery and they implanted a "St. Jude Mechanical Valve" in my heart. I am always ticking. And that is a good thing. Unfortunately, I am unable to have back surgery. I have 3 herniated discs. Titanium is not user friendly with a mitral valve and MRSA. No surgeon will operate onme. If I were to have surgery, there is an 80 per cent risk that I would die. The risk of MIRSA coming to visit is very high.

    So I am almost done. I pray for all of you that are in pain. I am embarassed to even share my condition with all of you that have suffered from your loved ones diagnosis.I cry as I type this because it is a dark cold world. I put on a happy face for my family and for that I am eternally grateful.

    In closing, I will pray for each and every one of you today and forever. Please help us raise awareness for the #1 staff strain in America called MRSA. Also. for the pain we have been given to endure. My ticking heart goes out to all of you.

    Liz

     

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  • Melissa Ingold
    Mar 12, 2010 @ 01:05PM PT
    Melissa Ingold

    My son has Neuronopathic Gaucher Disease Type 3, which means a fatty substance is building up in his brain because his body does not produce the enzyme required to break it down.

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  • Lisa West
    Mar 15, 2010 @ 09:54AM PT
    Lisa West

    My daughter has SOD, Septo-Optic Dysplasia/Optic Nerve Hypoplasia.  While she has a mild form of it, she experienced growth delays and four eye surgeries.  Medical treatment was required!  If she had not received the necessary treatment, she would have continued to suffer from delayed growth problems and possible blindness.

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  • Lucy Gladstone
    Mar 15, 2010 @ 07:14PM PT
    Lucy Gladstone

    My son has a deletion on the long arm of his 6th chromosome.  His diagnosis is del6q(25.1-25.3) and has no other name by which to call it.  We knew more going in to see the geneticist than they could tell us. It is both a blessing and a curse when you are told, "we don't know what to tell you, just do all the therapies you can to help your child live to his fullest potential."  The blessing being, there are no limitations in what we can expect from our adorable little man! Our lifeline of information comes from the wonderful parents who have formed online groups to help make people like us not feel so alone.  My wonderful little boy is such a blessing to us and this world!  God bless you all living with rare conditions.

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  • Rachel Russell
    Mar 15, 2010 @ 07:30PM PT
    Rachel Russell

    I am totally in support of this idea. NIH disproportionately funds disorders based on their popularity. MS and Narcolepsy have the same prevalence; however, Narcolepsy gets an eighth of the funding MS gets ;( Though not all rare I have severe Narcolepsy with Cataplexy, Fibromyalgia, Rheumatoid Arthritis, Chronic Lyme’s Disease, and Diabetes, I did NOTHING to contract. Disabled and Chroinically ill people are treated the absolute worst in our society. America's Forgotten should be forgotten no more.

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  • Lisa Berbiglia
    Mar 16, 2010 @ 08:34PM PT
    Lisa Berbiglia

    I give my support!

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  • Teresa Willige
    Mar 20, 2010 @ 01:22PM PT
    Teresa Willige

    You have my vote.

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  • Jannon Suman
    Mar 21, 2010 @ 10:41PM PT
    Jannon Suman

    My best friend has Fibrous Dysplasia and when I found out what she had, I did some research on it, just to be aware of what she goes though on a daily basis.  No one I knew had ever heard of it, and until I met her, I'd never heard of it but have since.  I wish there was more funding for it, as I know what pain she's in.  She's constantly going in for more scans, more blood work and there's really nothing anyone can do for her except treat the symptoms.  She has had eye surgeries and probably needs to have more.  Her eye is disfigured from those surgeries because the stupid Dr's probably didn't know what they were dealing with.  I feel for all of you with the diseases I have read on this site.  I have Fibromyalgia and people still think its the "crazy" disease, even most doctors I've seen. It was just in the last year the media start talking about FM and now people look at me like I got a death sentence or something.  Its certainly not but its keeping me from keeping a job.  People are more understanding of it because knowledge is power, on all levels.   It stems from a virus, or a traumatic experience, such as a car accident.  I've had both and I know this acute chronic pain is for real.    I've never heard the media get involved with or even mention FD, or any of the other rare diseases I've read about here.  The world needs to know, to make people aware that funding is imperative to research and find cures for such debilitating diseases.  You definitely have my support.  I love you Marie Post!     

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  • Sandy Jones
    Mar 22, 2010 @ 04:52PM PT
    Sandy Jones

    As an adult with Panhypopituitarism, vitiligo, high fructose corn syrup malabsorption, asthma, and all the hormones missing because of the Panhypopituitarism (no pituitary function, which translates to no thyroid, adrenal insufficiency, growth hormone, or sex hormones), I've gotten to know just how important life is.   I talk to people all the time who are growth hormone deficient, and it takes them all on a journey of frustration and tears just trying to get a diagnosis.  There are actual medical schools in the U.S. today treating growth hormone as snake oil.  Endocrinologists treat so many diabetics and thyroid patients, and they have little knowledge or interest in treating the rare endocrine disorders.    For those who have no functioning pituitary and/or are growth hormone deficient, such therapy can mean a life well-lived, out of bed, holding down a job, staying healthy.  We have medication, but it's very expensive and insurance companies make some of our lives a living hell to get approved.  I hope the new health care bill will accomodate those of us who need these life saving and life changing  medications at a reasonable cost.  I pray the new bill will allow research into the most rare of diseases so cures and medications will become available.   Magicfoundation.org is a wonderful site for any child or adult with a growth hormone related disorder.  Don't forget The National Organization of Rare Disorders either.  And, even if there are only two of you, start your own support group.  It has to start somewhere, and most support foundations have their roots where a parent wanted better for their child.  Good luck to each of you.  Keep writing to your representatives about rare disorders.  Don't let this issue die.

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  • Clare Jeffcock
    May 27, 2010 @ 07:36PM PT
    Clare Jeffcock

    I'm luckier than many of the people who have spoken here- neither myself nor anyone I know personally have ever been affected by a rare disease. 

    I still support this idea with hope and passion. America needs this. 

    Americans need this.

    The world needs this.

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  • Catherine Calhoun
    May 28, 2010 @ 10:24AM PT
    Catherine Calhoun

    Rare Disease Campaign Update (May 2010):

    I will meet with our rare disease Change.org team face-to-face next week in New York City.

    And plan to share updates on the rare disease campaign through the Children's Rare Disease Network RARE Blog, http://www.crdnetwork.org/blog/change-org-rare-disease-campaign-update/.

    Feel free to share thoughts and ideas with me through comments, email and the like.

    Thanks again for the help getting the votes for rare disease.

    Best,

    Catherine

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  • Brooke Williamson
    Jun 10, 2010 @ 04:12PM PT
    Brooke Williamson

    The world needs this... I need this... I have Stargardt's Dystrophy (FFM), at 51 my window of opportunity feels lie it is closing.  This is SO needed, if not in time for me... for those who follow me.

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This idea was voted as one of the top 10 ideas in the 2010 Ideas for Change in America competition. For more information, including a list of all 10 winners, click here.

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