Why I Think Down Syndrome Research is a Good Thing

From reading posts on mailing lists that I’m on, I can tell that there are some people who don’t support Down syndrome research because they don’t want to change their children. Then, there are some on the other end of the spectrum who want to do all they can to improve their child’s cognition so they give their children non-FDA approved treatments. I’m somewhere in the middle. Here’s my opinion as to why I support Down syndrome research.

1) Reducing the Effects of Alzheimer’s
According to Dr. Mobley (a Stanford, soon to be San Diego researcher), all people with Down syndrome will show the neuropathology of Alzheimer’s disease by the age of 40 but may or may not have Alzheimer-like symptoms. One of the drugs that he’s researching will reduce the effects of Alzheimer’s. This will help the general population, in addition to our loved ones. Unless I live a very, very long life, I won’t be around when my son is in his 40s, or, if I am, I may be living with Alzheimer’s also. Being that people with Down syndrome are living longer lives (Dr. Mobley said into their 60s), I cringe when I think that my son will live a long time with Alzheimer’s and without me.

2) Living Independently
According to the Down Syndrome Research and Treatment Foundation (www.dsrtf.org) a mere 10-20% improvement in cognition could mean the difference between dependent and independent living for adults with Down syndrome. While I think my son is beautiful now, the way he is, I’m still doing things that will change him and hopefully improve his cognition. For example, he goes to speech therapy, physical therapy, occupational therapy, a feeding specialist, and special education teachers. I also give him medicine for his reflux, constipation and hypothyroidism, so why not give him an FDA-approved medicine that would improve his cognition? Once we got his thyroid under control, for example, there was a noticeable improvement in his cognition. If, in his lifetime, the research turns into an FDA-approved treatment, I can then decide, based on the side-effects, etc. whether to give it to him or not. I want to be able to make that decision, especially if he could live independently and the drugs are safe. Today, I don’t even have the option to make that decision.

3) Helping Others
The research that I’m just now learning about could help people with other cognitive issues such as autism, could help the general Alzheimer’s population (which my father is already a part of), and, according to a new research article about glial cells, could help stroke victims too.

Research is expensive. With more funding from the federal government and more support for organizations like the Down Syndrome Research and Treatment Foundation (www.dsrtf.org), I think an FDA-approved treatment is possible in my son’s lifetime. See my earlier post about writing to your representatives to fund Down syndrome research at a higher level.

An Afternoon at Google

Google is sponsoring an “Afternoon at Google”, a fun event for young adults with Down syndrome in the Bay area.

JUNE 9TH – 3:30PM – 6:00PM
1600 Amphitheatre Parkway, Mountain View
AGES 12 and UP!

It will be an afternoon of technology and fun!  Learn internet basics and how to create an email account, play games and more!

For more information check out: http://www.googleevent.org/

Be Part of the Breakthrough for Down Syndrome Research

I recently went to a talk by Dr. William Mobley, a Stanford Down syndrome researcher, and became aware of the recent breakthroughs in Down syndrome research that could lead to treatments to improve cognition, memory, speech and learning and reduce the effects of Alzheimer’s disease. I was very excited about the research, but was saddened to learn about the reduction in funds that the federal government is putting towards this research. In 2004, the National Institutes of Health (NIH) funded $23 million in Down syndrome research, whereas by 2008, NIH funding had decreased to $17 million, a decrease of more than 25%. The $17 million in NIH funding for Down syndrome research in 2008 translated to approximately $42 per person with Down syndrome. Other conditions receive significantly more. See www.dsrtf.org — The Down Syndrome Research and Treatment Foundation (DSRTF) — for more information about Down syndrome research and to sign up (lower right-hand corner) to receive newsletters and keep up with new research developments and breakthroughs.

Having been amazed at how close Dr. Mobley is to turning his research into a potential treatment for our loved ones (he’s found 2 drugs that work in mouse models of Down syndrome – one that improves cognition and one that reduces the effects of Alzheimer’s), I wanted to do all I could to move his and others’ research forward. Dr. Mobley said we could do 2 things to help. One is to donate to DSRTF (www.dsrtf.org), which is where he gets much of his funding, with more than $3 million in DSRTF research funding given to Stanford since 2004. The other is to write to our Congress people to ask them to join the Down Syndrome Caucus and to fund Down syndrome research at a higher level. Since then, I’ve done both. Here’s a generic form of the letter I wrote to my Congress people that my friends sent to their Congress people. Please feel free to use any or all of this letter to write to your Congress people and add a personal touch by talking about your loved one with Down syndrome. Go to votesmart.org and type in your zip code to find them. If you click on their name, you can find a link to their web mail address, click on it, and then cut and paste your letter into the form. You can also write directly to President Obama by going to the following website: www.whitehouse.gov/contact.

If we all work together, we can be part of the breakthrough.

<date>

<Your name & address>

<Representative’s name and address>

Dear Representative <Representative’s last name>,

As the <parents/aunt/uncle/friend> of a child with Down syndrome, we respectfully ask that the government fund Down syndrome research at a higher level. Due to recent breakthroughs in genetics and Down syndrome research at facilities such as Stanford University, a treatment appears imminent. If individuals with Down syndrome can live more independent lives, the government could save much of the 6 billion dollars spent annually for people with Down syndrome, and these people could become tax-paying citizens. The long-term benefit to our society is huge. The initial, up-front cost of the research could, in the end, save taxpayer dollars.

My name is <name> and I am the <mother/father/aunt/uncle/friend> of < person’s name>, < info about the person – for ex., a sweet, playful, happy 2-year-old boy with Down syndrome.> <mention specifics about the person – for ex., His older brother and sister are so proud of him whenever he accomplishes something that comes naturally to others. They cheered him when he signed his first word, learned to crawl and took his first steps. We are all better people for having him in our lives.>

However, <my husband and I> worry about what his future will be like. Will he be able to live independently, or, will he need to live on government aid all of his life? We’re learning about new research developments in the field of Down syndrome and are very hopeful that a treatment will become available to our son within his lifetime. <My husband and I> thank you for the opportunity that early education programs and mainstreaming has given and will continue to give to our son. If the new research developments can be turned into drug treatments, and his cognition improves by a mere 10-20% beyond what it would have been, he could support himself financially when he grows up and he won’t need to live on government assistance as an adult.

People with Down syndrome are living longer lives, many into their 60s and 70s, but nearly all will develop Alzheimer like symptoms by the time they are in their 40s. A link has been made between a gene associated with Down syndrome cognitive issues and the cognitive issues associated with Alzheimer’s disease. The research being developed for Down syndrome has the potential to delay the onset of Alzheimer’s, not only in people with Down syndrome, but in the general population as well.

According to Stanford Down syndrome researcher, Dr. William Mobley, “brain function can be modified, in both children and adults, and we are learning how such changes occur. Therefore, today, we can boldly predict that Down syndrome is not too complex to understand, it is not too difficult to treat, and it is not too late to treat.” Dr. Mobley is testing a couple of new drugs on mice. These drugs sound very promising, but he needs funds so he can turn his research into treatments for people with Down syndrome and other cognitive disabilities as well as people with Alzheimer’s.

I think Dr. Mobley said it best when he said, “During times of tight budgets, it may be tempting to de-emphasize research. And yet, research – particularly medical research – is the best investment we can make in health care for our country. If we are concerned about cutting future health care costs, we must look for ways to prevent those costs from occurring.”

Please help by joining the Congressional Down Syndrome Caucus and funding the research.

Sincerely,

Fun for a Good Cause!

Come and join us on Saturday, May 16, 2009 at Shoreline Park in Mountain View. Our family event for May is to have fun outside at the Down Syndrome Research and Treatment Foundation’s Bay Area Romp for Research. We’re always on the lookout for family-friendly events that support a good cause, and DSRTF is one of the best (and locally headquartered, too, founded by one of the families in SVDSN).

DSRTF is a non-profit organization with the focus of funding cognition research for the population of 350,000 people in the U.S. (and over 1 million world-wide) living with Down syndrome . DSRTF is the only national organization with the primary goal of raising money and awareness for this kind of research.

Thanks to their work over the past four years, huge strides have been made in determining the specific genes on the 21st chromosome that are believed to be primarily responsible for the majority of learning differences in people with DS. Some of the research currently being funded by DSRTF could also have huge impacts on finding a cure for people with Alzheimer’s. (All individuals with DS develop the neurophysiological signs of Alzheimer’s.)

DSRTF believes in improving the quality of life for our family members with DS. They believe in our kids and their potential. For that alone, we are grateful.

We hope you’ll come out and show your support for our community and for the work that DSRTF does on May 16. If nothing else, slather on the sunscreen and have fun while splashing around in a paddle boat. Join in a game of volleyball. Toss around a frisbee. Or you could try to dunk Na’eem. It’s for a great cause.

Family Dinners for 2009

Here are the dates for our Monthly Family Dinners for 2009. Please add them to your calendar now! We would love to see more people attending these events. We always have a great time! Details will follow as we get closer to each date.

Family Monthly Dinners (3rd Saturday of each month) 5:00

May 16
June 20
July 18
August 15
September 19
October 17 (subject to change/Buddy Walk month)
December 19