Does anyone here know of anyone or any cases of people with Wiskott Aldrich syndrome?

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Just wanting any personal experiences as my nephews almost certainly have it and we are just waiting for test results to come back. They are likely to have to have bone marrow transplants in the next year. Trying to stay positive about it though, but BMT sounds like the most successful outcome for them.

It is a very rare disorder so it is probably a long shot that anyone on here will know of anyone personally who has this, but would love to hear from you.
Thanks. You seem to know alot. They both have the skin rash and ecsema, also. My sister sees a nutritionist and they're are alot of foods that she avoids to help control the this.
Yes, I knew one person that had this disease. He was a friend of mine as a child. He always had to watch out for anything that would cause him to bleed.

This disease is rare and statistically showing up in males only. About 4 in one million get this problem. The WAS gene is a defect in the "X" chromosome. Since girls get two, if the second "X" is normal, it compensates for the defective one and the disease doesn't happen, although they are now a carrier.

It's interesting to note that even if you have a genetic defect, many times you can suppress the expression of a gene or cause the expression with nutrition or environment. The bone marrow transplant is an excellent way to try and alter what is happening, but I would also look at the nutritional approach as well.

Since the spleen responds to cell metabolism issues, I would think that if you increase the activity of the adrenal glands with herbs, you could help the spleen deal with it's duties a lot better. This would also help the skin rash that typically is associated with this disease.

I would focus on making him as healthy as possible with good nutrition and pray that the bone marrow transplants may give him a second lease on a normal life.

good luck to you  (+ info)

What colour awareness ribbon for Wiskott-Aldrich Syndrome (or generally immunodeficiency syndromes)?

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what do u mean by colour ?  (+ info)

Do you know about a foundation that provides financial support for a child diagnosed Wiskott-Aldrich Syndrom?

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A friend's 2 year old cousin was diagnosed with Wiskott-Aldrich Syndrome. His sister will be the bone marrow donor but the procedure, the workup and the clinic's follow up will cost an estimated of $634,000. The hospital has agreed to accept a fee of $60,000 but the parents will still be responsible for all the expenses of the child and mother's stay in New Orleans for 6 months (airfare, visas, food, lodging, transportation, clothing and outpatient medications). Please help this Honduran family!
The total costs are actually going to be far more than that when you count the min of one year recovery time, and a year full of medicine. I am 2 years from my transplant (mine was for aml, a type of leukemia, but the transplant is the same), and just now getting off all the medications. And then, if there are any complications, the costs will go up as well.

Your best option is to start fundraising, hard. Check the Ronald McDonald house for accomadations of the parent. Most transplant hospitals also have a host program, where area families volunteer to be host homes for parents in those situations. Most transplant hospitals also have agreements with some of the area hotels to get parents deeply discounted extended stay rooms.

Also, the hospital has social workers that are available to help apply for local programs and things that can help.  (+ info)

what is wiskott aldrich disease?

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My brother jeremy died from this 3 years ago. I try and read all those articles about it but they are really confusing.. I want to know is it cancer? Could I be a carrier? Why did he get it and not me?
  (+ info)

What is the name of the syndrome that the person may appear to have facial characteristics of down's syndrome?

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I previously watched a documentary about sufferers of a syndrome whose facial features appeared to be down's syndrome but it wasn't down's syndrome. The grow to be quite large adults and have special needs. Does anyone know the name of this condition?
Klinefelter syndrome  (+ info)

Are there different types of Down syndrome and what areas of the body does Down syndrome affect? ?

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Also, are there any significant statistics related to Down syndrome? Has Down syndrome received any recent attention from the media? Are there any famous people that have Down syndrome.
Answer as many of the above questions as possible.
There are three types of Down syndrome, garden variety Trisomy 21, mosaicism and translocation.

Read more at:

Welcoming Babies with Down Syndrome (English, Spanish, French)
http://www.bellaonline.com/articles/art32534.asp

There is a slide show that also incorporates videos of the featured 'More Alike than Different' cast at the National Down Syndrome Congress website:

http://www.ndsccenter.org/morealike/flash/

And great information at the National Down Syndrome Society website:
Down Syndrome Fact Sheet
http://www.ndss.org/index.php?option=com_content&view=category&id=35&Itemid=57

You might also enjoy

Margaret's Guide to Down Syndrome
http://www.patriciaebauer.com/2007/05/12/margarets-guide-to-down-syndrome/

For bios of actors with Down syndrome, see:

Down Syndrome and the Acting Gene
http://www.bellaonline.com/articles/art34198.asp

and

DS in Arts and Media
http://www.dsiam.org/

and

Michael Johnson
http://www.users.psln.com/sharing/Michael/mainMichael.html

and

Sujeet Desai
http://www.sujeet.com

Down Syndrome Links at the Family Village website
http://www.familyvillage.wisc.edu/lib_down.htm

Check out this recent New York Times article:

The DNA Age: Prenatal Test Puts Down Syndrome in Hard Focus
http://www.nytimes.com/2007/05/09/us/09down.html

Have fun with your research!
  (+ info)

What is so bad about having down syndrome?

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I think people are a lot colder than they want you to believe. Too many pregnancies prediagnosed with down syndrome are terminated! Doctors tell people that their kid will be like some animal and people believe them. I've met my share of people with down syndrome, and they all seem pretty human to me. On top of that, they were all decent folks, which is a lot more than I can say for the general population. And how does knowing that unborn children are purged because of down syndrome affect those who were born and have down syndrome?
WOW!! I'm so glad that there are other people who's lives have been touched as mine has. See when I was 28 I gave birth to twin girls and one of them was born with Mosaic down syndrome. Of course, I didn't know much about it til now....and yes I was shocked. They are 14 months old now, and such a blessing as well as my two boys. My daughter is about 4 months behind in her milestones, but she is always so happy! Out of all my kids she is the easiest to handle.

It's always nice to have other people, who see that they are more alike, then different from the rest of us.  (+ info)

What is the syndrome called when you cannot feel physical pain?

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I remember watching a show a long time ago, and this one little girl was born with a syndrome where she could never feel pain. If she fell on the floor and cut her knee, she wouldn't cry, whereas most children would.

What is this called? Is it a syndrome? Is it a medical condition? I just want to know what it's called, and I can do the research on it.

It is for a story I am writing but I don't entirely know what it is.
It's called "congenital insensitivity to pain"  (+ info)

What syndrome would someone have that the doctor would need to put them on bloodthinners?

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My sister is 18 and just moved out here from MN to go to school. She has had many medical problems and been to several doctors. She recently told me that the doctor said there was something wrong with her blood and she needs to be put on blood thinners for the rest of her life. What syndrome could this be?
There are several, but the first that comes to mind is Factor-V (five).  (+ info)

What is the syndrome where boys usually grow more than average?

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I think it is Jacobs syndome.. XYY syndrome.. but wikipedia says that is only a little more than average. what is the only where they get really big ?
Yes it is called gigantism. It is caused by a tumour or either a chromosome disorder. Another thing that causes gigantism is the inability to inhib the GH (growth hormone) when it is produced. This is why the people who have it get very TALL.  (+ info)

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