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  1. #1
    Gena's Avatar
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    Default Rare Disease Day - Feb 28, 2011

    For the last few years, the last day of February has been internationally observed as Rare Disease Day. Rare diseases have a low prevalence and a high degree of complexity. Considered individually, rare diseases affect small numbers of people. Therefore many of these diseases do not attract much funding or attention. However in the US there are over 6,000 rare diseases - affecting a total of 30 million Americans.

    Rare Disease Day sends the message that “Alone we are Rare. Together we are Strong.” It also tries to raise awareness, not just of the various diseases, but of the difficulties that families who are affected by these diseases may face in terms of obtaining treatment and health coverage.

    The international website for Rare Disease Day: http://www.rarediseaseday.org/

    The US website for Rare Disease Day: http://rarediseaseday.us/

    The National Organization for Rare Diseases (NORD) is a US non-profit organization that serves as a federation of various health organizations serving people with rare diseases and as a national clearing house. NORD provides information about disease to doctors and patients, provides research grants, assists with advocacy, and provides medication assistance programs to needy patients. http://rarediseases.org/


    If you or a loved one as a Rare Disease, please feel free to share your story in this thread.
    Gena

    DS, age 11 and always amazing

    “Autistics are the ultimate square pegs, and the problem with pounding a square peg into a round hole is not that the hammering is hard work. It's that you're destroying the peg." - Paul Collins, Not Even Wrong

  2. #2
    Gena's Avatar
    Gena is offline Emerald level (3000+ posts)
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    Our story (OCA):

    My son has both autism (which is not a rare disease) and Oculocutaneous Albinism or OCA (which is a rare disease). OCA is a rare genetic disorder that results in little or no pigment in the skin, hair, and eyes. There are several types of albinism, all caused by different mutations and which affect pigment production in various degrees. We believe DS has OCA2, which means his body does make a minimal amount of pigment. He has milky-white skin, yellowish hair, and light blue eyes.

    Because pigment is necessary for the proper development of the eye structures and the optic nerve, albinism always involves some degree of visual impairment. My son is lucky in that his vision impairment is mild. He has extreme farsightedness and extreme astigmatism, but his vision is correctable to about 20/50. (Many people with albinism are legally blind, meaning their best corrected vision is not better than 20/200.) Additionally DS has little or no stereo vision – because his optic nerves are misrouted, his eyes do not work together properly. This also causes him to have exotropia (eye turning) and amblyopia (lazy eye). He also has transillumination defects of the iris (his irises do not block out light) causing him to have extreme sensitivity to sunlight and glare.

    Albinism is a very misunderstood condition. Cultural ideas of albinism range from those that cause ridicule to those that are deadly. In the US, the popular culture of movies and books often make use of the “evil albino” stereotype. This portrayal greatly affects the self-esteem of children with this disorder. And I am amazed by how many people ask me if my son’s albinism is the result of either inbreeding or a mixed-race union. These difficulties and stereotypes, while disturbing, are minor compared to some other areas of the world. In parts of East Africa, people with albinism are sometimes killed because it is believed that their body parts have special powers. Several international organizations are fighting this atrocity.

    For the most part, I consider albinism to be a minor problem for DS. He does have some visual impairment, but his difficulties due to albinism usually seem minor compared to the issues related to his autism. However recent events IRL (including the issue I posted about in the BP about the school nurse as well as some other incidents involving rude comments from strangers) have lead to me to realize that I need to spread awareness about albinism as well. Autism and albinism are both conditions that are part of my child’s identity. Neither one defines him, but both contribute to making him the extraordinary and unique person he is.
    Gena

    DS, age 11 and always amazing

    “Autistics are the ultimate square pegs, and the problem with pounding a square peg into a round hole is not that the hammering is hard work. It's that you're destroying the peg." - Paul Collins, Not Even Wrong

  3. #3
    Elilly is offline Platinum level (1000+ posts)
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    Graham has two chronic rare diseases. The first is called hypogammaglobulinemia. It has an incidence of about 1 in every 100,000. He is unable to make antibodies to fight infection. He will not "respond" to vaccines by making antibodies. He can be exposed to a virus and then get it again the following week. He had his first ear infection at 2 weeks of age and then was constantly ill or on antibiotics for the first year of his life. All because his body is not able to make antibodies. So, every week we administer an infusion at home to give him the antibodies. These antibodies are separated from the plasma of human donors and then concentrated (think plasmapheresis centers where college kids sell their plasma). The infusions take about two hours. This is a lifelong condition and Graham will require these infusions forever. The therapy is very costly at about $4000 per month and we are very thankful for our health insurance.
    The second of Graham's rare diseases is called hereditary fructose intolerance (HFI). He is missing an enzyme in his liver to process fructose. Fructose is the sugar that is in most fruits and vegetables. So he cannot eat fruit and most all vegetables. In addition to this, he cannot eat anything with sugar in it as sucrose is broken down into fructose and glucose. His diet consists of meat, eggs, rice, potatoes, gluten free grains (he also has celiac disease), a few veggies (lettuce, green beans, cucumbers, celery, and spinach) and baked goods that I prepare with dextrose rather than sugar. HFI has a frequency of about 1 in every 20,000. If an individual with HFI ingests fructose, the fructose will cause kidney and liver damage. The only cure is bone marrow transplant. So, for now, we manage the disease through diet
    Our more common diseases or conditions also include autism, asthma, and food allergies (dairy and soy). You'd never know it though when he's out on the wrestling mat kicking butt. It just takes a few hundred hours behind the scenes to make these moments possible
    Last edited by Elilly; 02-28-2011 at 10:01 PM. Reason: spelling
    DD 02
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  4. #4
    DrSally's Avatar
    DrSally is offline Pink Diamond level (15,000+ posts)
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    Thank you for pointing out rare disease day. Gena, I totally understand how the Autism would be more in the forefront than the albanism. I know some about autism, but almost nothing about albanism. Thank you for the insight. I feel like I've had my awareness raised. I could totally see how a person with albanism could be a target of prejudice/discrimination (missed your other post).

    Erica, I'm amazed at your strength and that of your son.

    I, myself, have a rare disease and am thankful for organizations such as NORD.
    Sally

    My Joyful DS
    My Lovely DD

    Please excuse the typos. Getting used to a virtual keyboard

  5. #5
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    My niece has an extremely rare condition called fibrodysplasia ossificans progressiva. FOP is a condition which results in bone forming in place of muscle and other connective tissue. The bone can form as a result of trauma, or just unprovoked flare-ups of the condition. It is a result of an overactive gene which causes bone to heal itself in non-affected people, but in FOP folks, it results in bone forming where it should not. My niece, 6 years old, has both arms locked at the elbow, and she cannot lift her arms above her waist. Her neck is mostly fused, as is part of her back. This condition is sometimes treated with prednisone, to reduce the swellings caused by the FOP flare-ups. The prednisone sometimes is able to prevent bone formation. The frustrating part of the condition is that sufferers can go for months, or even years, without a flare-up, only to be stricken with many flare-ups (often unprovoked). There are only about 600 known cases worldwide, though it is suspected that there may be as many as 2400 cases worldwide.

    The good news, is that the FOP gene was identified a few years ago , so the hardworking researchers at UPenn are hot on the trail of a treatment. We are very hopeful that a drug may be identified that would inhibit new bone formation and allow for the extraneous bone to be removed, thereby returning to my niece some of her mobility.

    Please support medical research!
    ~~~
    Susan
    DD 08-2005
    Impatiently awaiting adoption match!
    Cure FOP - www.ifopa.org
    ~~~

  6. #6
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    Quote Originally Posted by EllasMum View Post
    The good news, is that the FOP gene was identified a few years ago , so the hardworking researchers at UPenn are hot on the trail of a treatment. We are very hopeful that a drug may be identified that would inhibit new bone formation and allow for the extraneous bone to be removed, thereby returning to my niece some of her mobility.

    Please support medical research!
    Wow, that would be ammmazing if they came up with a treatment.
    Sally

    My Joyful DS
    My Lovely DD

    Please excuse the typos. Getting used to a virtual keyboard

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