Confronting the reality of my son’s condition as fatal is a battle that has taken me to the brink of insanity over and over again.  Sometimes the grief is so heavy that I don’t think I can bear it another second.  Then Dan will cough or crack one of his jokes that make me howl with laughter and I’m back in the moment with him.  As difficult as it is for me, I realize it’s even harder for Daniel, and that helps me set my own grief aside.

The summer before Daniel started third grade, we had to confront the reality that his days of walking independently were over.  My husband, Kevin, had devised a “punishment” for rude behavior, like burping as loud as you possibly could at the dinner table – a given with boys.  The rule was that if you burped, you had to run out to the edge of our yard and back.  We had watched Dan run out in the field with his brother and sister (because inevitably one child burping leads to another, like yawning does) wobbly but holding his own.  They would shout with laughter and fly across the grass, damp with evening dew, Kevin yelling “faster, faster.”  Dan had started to get unstable, and couldn’t make his legs work the way he wanted them to.  He fell if there was nothing to hold onto, so he started having to stay at the table with us, and when school started he had to use a wheelchair.  He would break our hearts, saying “I wish I could still walk” in a tremulous voice when his siblings would run out into the yard, and I would scoop him up on my back and try to be his legs.  We knew it wasn’t the same, but he would laugh and seem like a child again for a few minutes.

This summer it was the battle to keep him eating that we lost.  It started out as several bouts of pneumonia, close together, and a week as an inpatient on the pediatric rehab unit.  He hadn’t been gaining weight, had stayed below 60 lbs. for close to two years.  We had talked about having a feeding tube put in his stomach to supplement his meager appetite, complicated by tremors in his hands that made his food fly off the fork.  He’d been great about letting me help him eat, but the energy it required just to chew and swallow took so much out of him there was no way he could make any gains in pounds.  We decided to get as many tests out of the way as we could while he was in the hospital, so he had a gastric emptying test and a swallow test.  His gastric emptying test showed delays and although his swallow was found to be completely “normal” according to the speech therapist, he had a problem with something called his vallecula.  Somehow, he had lost sensation in his vallecula, so if food or liquid (including saliva or mucous) pooled there he didn’t feel it and it would slide right down his trachea and into his lungs.  After the test was over, an occupational therapist took us to a private room and told us (including Daniel) that while she was being conservative, she had to recommend that he not receive anything by mouth from that day forward.  I was in shock.  This possibility had never entered my mind.  Dan was exhausted by this time, and it was hard to know how much he took in.  I had a sense of deja vu, as if I was back in the examining room at Johns-Hopkins the day he had been officially diagnosed with A-T.  The doctor’s had to keep repeating that Dan had it.  My sweet, healthy -looking 2 & 1/2 year-old son had a fatal genetic condition that no one in either  family (mine or my ex-husband’s) had ever heard of or been diagnosed with.  It was true though, no matter how much I didn’t want it to be.  Something short-circuited in my nervous system that day, the result of an adrenaline overload or an implosion of emotion that couldn’t be categorized. (it was eventually diagnosed as fibromyalgia and panic attacks, but that’s another story)

Back in the little room, sitting in child-sized chairs and holding Daniel so he could rest, the O.T. asked if we had any questions.  My mind had gone numb, and I honestly don’t remember if I asked anything or not.  By the end of the week, Daniel had a tube in his nose that went down into his jejunum and two weeks after that he had surgery to have a permanent j-tube put in his abdomen.  It felt like he was being tortured, and I was forced to be a participant.

This has been an unbelievably difficult adjustment.  Food is a huge part of life, and nourishing my children nutritionally is an integral part of being their mother.  Every aspect of eating from shopping for food, (Oh, Dan would LOVE that) to making school lunches, (Al and Annie like ham, Dan likes chicken) to planning dinner and setting the table (we need five place settings – oh, right we only need four) reminds me that things have changed for Dan, for all of us.  He keeps asking “what will I do at school during lunch?” and I don’t really know how to answer.  We still sit together as a family for dinner, and I suppose the silver lining is that Dan never really enjoyed eating that much anyway.  Most of the time it was more of a chore for him than anything.  He’s also finally gaining weight, which is a blessing, because he had started looking skeletal and we worried that any illness could take him from us because he had no reserves to fight it off with.  As with much of what has happened, it’s not simply win or lose, it’s compromise, letting go, and releasing expectations whether catastrophic or miraculous.  It’s doing my best to love Dan without limit every moment we have, and surround him with others who will do the same when we are apart.  It’s also harder than I ever could have imagined almost a decade ago when the doctor’s diagnosed his condition, and added a realization of what is really precious about life.  Whether that counts as winning or losing, I don’t know.  The analogy of life as a series of battles was already worn and tired before I typed it into the subject box on this post several days ago.  That’s reason enough to stop thinking about things that way.

“Unlike many national groups (UCP, Susan G. Komen)..we have nothing!!! We rely on folks like you for everything!!!! On behalf of the 300 families…THANK YOU..you give us all HOPE!!!” – Jill Wesnor, Stella’s Mother

Join Jared Digby (A-T) patient with Dr. Howard Lederman from Johns Hopkins Medicine as he provides us with an overview of the genetic disorder, Ataxia Telangiectasia (A-T).

Stella is an amazing 11 year old girl from Birmingham, Alabama who loves life! She has some fancy hot pink wheels (an electric wheelchair) that she uses each day.  She has a wonderful “can do” attitude and always has a beautiful smile on her face.  You can always find her chatting with friends at school.  She gets the “princess treatment” everywhere she goes, and we kid her about being a rock star.

Stella has a funny sense of humor and is a talented artist.  She loves to paint and draw and loves pink, purple and anything that sparkles.  She just moved into a house with a “stellavator” and is excited about it.

Stella knows NO limits! She enjoys swimming in the summer and participates in a special equestrian program all year.  Stella loves all kinds of animals (especially her two cats).  She is a joy to be around and is a TRUE blessing to everyone who has the honor of knowing her.

Who I Am
Thomas Roberts-Wierzbowski

 My wish to walk is just out of reach
Like an apple too high on an apple tree.
My wish to run
Is a fire burning in my heart.
My hands want to draw,
My feet want to get up and dance forever,
My eyes want to read better.
My ears want to hear…
“There’s a cure for your condition.”
My mouth wants to open up and yell at the world:
“Why?”
“Why did you pick me?”
“Why couldn’t it be someone else?”

 My heart feels bad that they can walk and I can’t.
My head says it’s good that I’m doing someone else a favor.
If I could walk,
Then somebody else couldn’t.
I want the whole world to know
I’m proud of
Who I am.

In October, Mary Rountree and Daphne Carr will run the Chicago Marathon to raise money for A-T Children’s Project on Team STELLA. 

Stella Wesnor is an eleven year old fifth grade student at Vestavia Central. Mary was her second and third grade teacher at Vestavia West. 

Stella has ataxia-telangiectasia (A-T) which is a rare genetic disease that attacks in early childhood, causing the combined symptoms of cerebral palsy, cystic fibrosis, muscular dystrophy, immune deficiencies, and cancer. 

Most children with A-T are unable to walk by age ten and often do not survive their teens.

Mary and Daphne are both very committed to this cause and 26.2 mile run. Any donation, regardless of size, would be most appreciated. 

If you have any questions, feel free to contact Mary at maryrountree@bellsouth.net or Daphne at daphcar@aol.com.

Thank you for joining our team to help Stella and many other children with A-T. 

“Most futures hold great hope…These children are hoping for a future.” ATC

A-T research is making great strides, and some exciting projects include: 

• The A-T Clinical Center at Johns Hopkins where physicians are conducting clinical studies to:
• Minimize life-threatening lung complications
• Reduce eye movement abnormalities and tremors
• Discover abnormal levels of specific proteins in the cerebrospinal fluid of patients with A-T that may reveal new drug targets
• The screening of chemical compounds to find those with the greatest potential to help A-T  

Research to find a cure continues, always applying new scientific approaches to better understand the disease and uncover potential drug therapies.

And, because of the multifunctional role of the A-T protein in cells, A-T research has far reaching public health implications for more prevalent diseases such as Parkinson’s, Alzheimer’s, cancer, AIDS, metabolic syndrome and diabetes.

Aletia Patterson, Fundraising Coordinator A-T Children’s Project – Note new address 5300 W. Hillsboro Blvd. #105, Coconut Creek, FL 33073 www.atcp.org 800.5.HELP.A-T (800.543.5728) 954.481.6611 Fax: 954.725.1153 aletia@atcp.org E-News Subscriptions from A-TCP   Become a fan of the A-T Children’s Project on Facebook Become a fan of our A-T CureTeam on Facebook Subscribe to our YouTube Channel

Your dollar might be the one that helps find the cure for ataxia-telangiectasia.  Any amount, great or small, will be most appreciated by Stella Wesnor’s family and A-T Children’s Project.  

http://www.communityatcp.org/Page.aspx?pid=1386&frtid=373

Thank you so much.

FEAT…

During the A-T CureTour, ultra-runner Tim Borland ran 63 marathons in 63 consecutive days to raise awareness and funds to help find a cure for ataxia-telangiectasia (A-T). Two filmmakers followed him every step of the way, documenting his journey and that of families coping with this disease.

Imagine  a combination of symptoms from cerebral palsy, cystic fibrosis, muscular dystrophy, immune deficiencies, and cancer.  

That is ataxia-telangiectasia (A-T).  If you are like me you stumbled through trying to pronounce this disease.  It is “ay-TACK-see-uh teh-LAN-jick-TAY-sha”… I’ll just keep calling it A-T.  

Please see the very enlightening YouTube for more information.

If there was any doubt that Doug Kmiec is now officially a useful idiot, Obama erased them when he signed an order allowing taxpayer money to be used for research on embryonic stem cells.

Never mind the fact that embryonic stem cells have never successfully been used in any kind of therapy whereas adult stem cells have been successfully used in hundreds of different treatment for hundreds of thousands of patients. In fact, most physicians agree that embryonic stem cells are so unstable that the outcomes of treatments using them cannot be accurately predicted.

Such was the story of a nine-year-old Israeli boy who was treated for ataxia-telangiectasia, a disease that causes degeneration of parts of the brain, with fetal stem cells. those fetal (i.e. embryonic) stem cells developed into a brain tumor. Doctors removed the tumor, but it has been gradually growing back since the surgery.

From Scientific American:

Scientific American predicted this is June of 2006:

Stem Cells: The Real Culprits In Cancer?
Michael F. Clarke and Wichael W. Becker
Scientific American
June 2006

But, is there any hope from any kind of stem cells?

The answer is: Yes. Adult stem cells offer a better hope than embryonic stem cells.

And Dr. Savitz is not the only physician that feels this way.

Dr. Bernadine Healy recently wrote a blog piece about why embryonic stem cells are obsolete. In her essay, she notes the example of the nine-year-old Israeli boy:

I wouldn’t want any of my loved ones participating in something like this. Given the track record of embyonic stem cells, it seems more like a death sentence than any kind of avenue for hope.

Again, is there another ray of hope?

According to Dr. Healy:

So, what we have here is that adult stem cells offer better hope for treating ailments and induced pluripotent stem cells don’t have to overcome any ethical hurdles for use. Also, fetal stem cells have a track record of being unpredicatable and are known to cause cancer.

So, why are the leftists so intent on spending money and resources on embryonic stem cells?

Because its keeps the abortion agenda moving forward. No other reason.

If this were about medicine and science, the major push would be to fund adult stem cell research and iPS research.

You can access the two articles on-line here:

Fetal Stem Cells Cause Tumor In A Teenage Boy
Coco Ballantyne
Scientific American
February 19, 2009

Why Embryonic Stem Cells Are Obsolete
Dr. Bernadine Healy
U.S. News
March 4, 2009

Here is a story about an Israeli teenage boy with ataxia-telangiectasia, a childhood disease that causes degeneration of parts of the brain that control muscle movements and speech, published by the Scientific American magazine on February 19, 2009:

sciam.com

The Web is rife with news stories regarding a paper just published in PLOS Medicine about a benign tumor that arose in a child treated with fetal neural “stem cell” therapy for ataxia telangiectasia in a Moscow clinic. Most of the reports are total crap, showing typical journalistic dilettantism, and spreading “stem cells are BAD” FUD. Just about the best news story I was able to find on the subject is (not surprisingly) on The Scientist website. The discussion that follows is also pretty interesting, so if you have a subscrption, be sure to check it out. There are a few points, however, I would like to elaborate on a bit further.

1. There doesn’t seem to be any indication that the “stem cell” transplant had any chance of success at curing the disease. At this point stem cell transplants often result in restoration of functional neural circuits in animals, but only in very well defined types of lesions (rat or mouse models of Parkinson’s disease and Alzheimer’s for example). AT on the other hand is a very complex disease (for review see for example here or here) involving, among other symptoms, neurodegeneration, immune deficiency, and cancer susceptibility. Most knowledgeable commenters seem puzzled as to why the Russian team even decided to go through with it. Material gains? Slim chance of fame if by some miraculous coincidence it panned out? Genuine, although clearly misguided, hope to help? It is a mystery.
2. How legal was the procedure? Most countries have very strict guidelines as to what treatments can or cannot be administered to patients and in what circumstances (clinical trial etc.). There doesn’t seem to be any indication of the procedure following any such guidelines. We could even go so far as to claim that it was experimentation on human subject, which is a serious crime pretty much everywhere in the civilized world. Related to the legal concerns are ethical ones. Were the parents aware of the risks and of the very dubious nature of the potential benefits? Even if they were, did the surgeons have the moral right to perform the procedure that they probably knew was not likely to produce any improvement in the patient?
3. From a scientific point of view, there are several outstanding questions that the authors of the papers did not or could not answer, but which are very important if we are to consider human stem cell therapy for any disease:
   • How frequently do such cases of tumorigenesis occur after stem cell transplantation? The question would probably best be answered by experimenting with non-human primates, since I presume that stem cells will behave very differently depending on the species. Also, did the stem cells in the tumor show any signs of malignant transformation or genomic instability or was the tumor entirely caused by the cells being in the wrong place at the wrong time?
   • What role does immunodeficiency play in tumor generation from stem cell grafts? The patient had an impaired immune system. Did that matter? Did it promote successful engraftment? We might expect that at least some stem cell transplants will involve taking immunosupressants. How will that influence the potential of these cells to generate tumors?
   • How good of a source of therapeutic neural stem cells are aborted fetuses anyway? Leaving the ethical question of abortion aside, maybe fetuses are simply not the best source available. Questions about immunological incompatibility, purification feasibility, and heterogeneity are among the most important.
4. Perhaps the most crucial point is what effect is all that, predominantly negative, publicity going to have on stem cell research. The news of the first-ever FDA approved stem cell clinical trial are still fresh and already stem cells are getting all this bad rap because a few half-wits decided to go ahead and play around with injecting mashed-up fetal brains into a sick kid’s spinal cord. The non-scientific crowd is not going to dig into the difference between adult, fetal, and embryonic, stem cells. They will not care if the tumor was benign or cancerous. They will just hear “stem cells give tumor to a child” and that will be enough for them to form a skeptical opinion of stem cell research as a whole. On one hand, this may mean diminished funding for stem cell-based therapies, and loss of public and political support for CIRM-like initiatives. But maybe it will not turn out to be such a bad thing after all. Stem cells have been all the rage for about a decade now, and it is time we started to ask ourselves questions about whether the billions of dollars poured into this field was money well spent. Maybe it is also time we focused more on the safety of these highly invasive methods and the benefit/risk ratio. Overall, I am optimistic that in the long run this unfortunate experiment will serve as a warning sign for those who want to move too fast to bring untested therapies to the bedside to the detriment of the patients. Remember this, it will say: Primum non nocere!

Aside from the host of ethical issues involved with developing therapies from cloned embryonic stem cells (ESCs,) the greatest barrier to their use is their unwelcome tendency to form teratomas (Latin: “big a** tumors”) if introduced into living tissue before they have differentiated into one of the 210 or so varieties of mature cells found in a non-embryonic person.

News today from Israel offers a grim example: the intended cure has given rise to a would-be killer in a 17-year old Israeli boy.  His family, desperate to try anything to treat his rare neurodegenerative disease, arranged for Russian doctors to give him injections of raw stem cells — from multiple donors — starting when he was only nine.

The tumors started showing up three years ago.  Doctors were able to remove and biopsy the one on his spinal cord, confirming that it arose from the donated cells.

The tumor pressing on his brainstem is still there.

Adult stems, coupled with pre-injection GFP screening, is the way to go folks.  Minds on the leading edge of medical genetics know this to be true.  As usual, the media and the politicians are the last ones to catch on.

Sadly, it will take more than one dying teenager half a world away to wake them up.

The following comes from my brother-in-law, Chad Schultz:

 
Friends and Family,

Join me in supporting the A-T Children’s Project by sponsoring me in my marathon efforts. I am raising money for a cure or life-improving therapies for a rare genetic disease called ataxia-telangiectasia, or A-T for short. Visit my fundraising page, and please pass it on to your friends! Either click on the link below, or copy and paste the link into your web browser.

Well, it’s that time of year. The Chicago Marathon is just over a month away, and I am running it for the A-T Children’s Project in honor of Alyssa Wood (Stepanie’s cousin). I have set my goal a bit higher this year, hoping to raise at least $2,500. All donations are tax deductible as the A-T Children’s Project is a 501(C)(3) charity.

I know that many people are being stretched to the limit with expenses due to high gas and food prices, new home purchases, and starting families; so I am going to donate the first 10% towards my goal. Please visit my webpage and give what you feel you can. Any contribution is greatly appreciated, but if you are not able to donate at all this year, I still encourage you to visit my page to learn more about A-T and see pictures of me, Alyssa, Stephanie, and others. The deadline for all donations is September 26, 2008.

Thank you in advance for your consideration.

*For those who prefer not to donate online, there is a link on my page for a printable donor form that can be mailed. I will be happy to collect checks to mail for anyone in the Chicagoland area.

Sincerely,
Chad Schultz

Here’s my fundraising page link:
http://www.communityatcp.org/NETCOMMUNITY/Page.aspx?pid=747&srcid=745&erid=42557&frsid=1214

Click here to make a donation:
https://www.communityatcp.org/NETCOMMUNITY/SSLPage.aspx?pid=745&srcid=745&tab=3&erid=42557&frsid=1214

Or, if you’d like to join me in the race, click here to register:
https://www.communityatcp.org/NETCOMMUNITY/SSLPage.aspx?pid=745&srcid=745&tab=2&erid=42557&frsid=1214

© 2007 A-T CHILDREN’S PROJECT 

I hope you’ll all consider donating to this worthy cause.  Chad is a dedicated runner and a good man who has participated in this worthy endeavor before.  He would appreciate any support you could offer.

Ultra-runner Tim Borland is running 63 marathons in 63 days in order to raise funds and awareness for the A-T Children’s Project in their quest for a cure or life-improving therapies for ataxia-telangiectasia (A-T). A-T is a rare, neurodegenerative disease that affects children, giving them the combined symptoms of cystic fibrosis, muscular dystrophy, cerebral palsy, and cancer. Children with A-T — born seemingly healthy — are usually dependent upon wheelchairs by the age of 10 and often do not survive their teens.

To run with Tim, join a tailgate party, or make a donation, please visit the A-T CureTour website. There, you can also view the daily video blog produced by filmmakers who are making an independent documentary on the A-T CureTour and enter a contest to Win a Nintendo Wii.

—

R.