Ataxia Telangiectasia

“Anyone whose life is touched by ataxia-telangiectasia is changed forever. Whether the patient diagnosed is your child — or your niece, nephew, grandchild or friend — old assumptions have to be discarded and new realities accepted. The world is suddenly changed, and the future is most uncertain. It is time for making adjustments — physical and psychological — many of them agonizingly difficult,” says Brad and Vicki Margus, parents of two children with A-T. *

Ataxia-telangiectasia (ay-TACK-see-uh-Teg-LAN-jick-TAY-sha), or “A-T,” is a progressive, degenerative disease that affects the human body and its systems. With only one in forty-thousand births being diagnosed with this, one might ask why I am aware and/or interested in A-T.  My cousin, Joe, was diagnosed at age 7. He lives in Virginia with his mother, father, and sister who are all affected by its dangers. Joe, despite his inability to walk, speak clearly, write, or process like he would if he were not living with A-T, lives a very happy life. He had bleach blonde hair when it was cool to overdose on peroxide. He drank his first beer under age.

He also loves playing video games and watching movies. It sounds pretty normal, right? Wrong. Joe is also best friends with celebrity actor and movie producer, Ben Affleck, and his wife, Jennifer Garner. Joe met Ben a few years ago at a movie premiere, but I won’t spoil the story. I’ll let Access Hollywood fill you in with their story on my cousin,Joe.   As you can see, Ben is a true friend and a shining star in Joe’s life. With everything Joe has to deal with day to day, getting a call from Ben can really help cure his pain.

So, what is A-T and where does it come from? Ataxia-telangiectasia is a recessive genetic disease. This means that the parents show no signs of the disease within themselves, but both carry the gene. It is impossible to diagnose a child with A-T before birth because of this. The chance of A-T carrying parents having a child with the disease is twenty-five percent. The chance of a sibling of an A-T child being a carrier is sixty-six percent. Joe has a sister, Stacy. She has a two-thirds chance of being a carrier. Stacy was just recently engaged to her long-time boyfriend. I am not sure she is planning on having children, but if she is, we all hope she has a healthy baby.

At birth, children with A-T seem to be normal. Joe, and many of the children diagnosed with the disease, do not show signs until their second or third year of life. At this time, parents notice their child is not learning to walk like the others and are having a hard time controlling their muscles. I can remember playing with my cousin, Joe, at our cousin Liz’s fifth birthday party. Joe was six and was having a hard time staying on his feet. He kept falling down. He laughed about it and made it a joke. Joe has kept his humor through his entire life and journey of A-T.  

Breaking down the name of the disease … The ataxia part of the disease is the part that effects the cerebellum. The cerebellum is in charge of the patients lack of muscle control that eventually leads the children in to a wheelchair. The worse the ataxia becomes, the more the children lose their abilities to write, speak clearly, and even read. The telangiectasia part of the disaease is also known as the tiny red “spider” veins that appear in the children’s eyes and on their ears and cheeks. The telangiectasia is harmless, but their appearance is what helped name the disease fully,”ataxia telangiectasia.” 

 

 

Joe entered his wheelchair at nine years old. He graduated high school at age twenty. He might not have had the ability to write, but he was able to speak and tell those what to write. Joe’s eyes move about, but he is able to read and still, at the age of 22, enjoy his favorite hobbies: watching movies and playing music videos.

A-T kids have very weak immune systems. They have insufficient amounts of IgA and IgE immunoglobulins, which are the fighting agents in the blood. This leaves A-T children at high risk for lung infections that do not respond to typical antibiotic treatments. Pneumonia is a common cause of death for children with A-T. Children with A-T also develop malignancies of the blood system almost one-thousand times more than the rest of the population. Yet at the same time, A-T patients are very sensitive to radiation and therefore cannot be treated for cancer if diagnosed. Other children are affected with mild diabetes, premature gray hair, difficulty swallowing, drooling, and slowed growth. Yet at the same time, their intelligence level remains above average. Joe’s family feeds him and has him sip from a straw. He is able to eat anything — but with help. Joe is very intelligent. He is currently working on a song with Brad Paisley, the country singer. Joe wrote the song and Brad is going to perform it. It is about how he is very smart and feels like no one sees past his disability.

Ataxia Telangiectasia does not run in any certain race, economic, geographic or education   categories. When I participate in the walk-a-thons back home in Boston and marathon’s in Disney World, I am with many of the children. It is true, they are all different ethnicities and ages. They usually pass away from respiratory failure or cancer before their thirtieth birthday. It is rare, but some have made it to their forties. Not to jinx my cousin’s life, but Joe is twenty-two and doing really well. Sure, everyday is a struggle and brings new sicknesses, but it also brings joy, happiness, and fulfillment when Joe is able to be surrounded by such great people — his friends, family, doctors, and Ben Affleck. 

So when will we find a cure? A-T has always been a hard nut to crack. Its molecular bases have remained a mystery throughout the years of research that have been occurring. In June of 1995, a doctor in Israel was able to isolate the gene that causes A-T. Scientists around the world since this time have become interested in the disease. They want to figure it out and figure it out fast.

Doctors now know that the A-T protein (ATM) tells other proteins in cells that they either are not working hard enough or that they need to stop working. The A-T gene tells cells that damage has been done and they need to stop growing and wait until the damage is fixed. Doctors are continuing to work to find other proteins that interact with the A-T protein. In April 2008, a PhD in Switzerland invented a drug, 4-aminopyridine, that eliminated some of the eye movement abnormalities. Research continues to aid patients and help by supporting those at Johns Hopkins Hospital, where the A-T Clinical Center is located, continue development of neurological measures and help lung function for A-T patients. Unfortunately, because of how rare and small the disease is, the information on the Johns Hopkins website is minimal. I contacted my aunt, the mother of my cousin, though, and she said that every day doctors are working harder and harder with the amount of money they have to find a cure. Johns Hopkins Children’s Center does say “physical therapy and speech therapy are often recommended. Injects with gamma-globulin to strengthen the immune system may be prescribed as well.”

   As you can see, this disease is rare. Not only does the average Joe have no idea what Ataxia- Telangiectasia is, but thousands of doctors have never even heard of it either. With media booming more and more every day, A-T has a chance to become known. A-T is like a mix of cerebral palsy and cancer. So why are these diseases so well known? C.P and cancer are a lot more common than Ataxia Telangiectasia, and also have many more organizations. With more organizations brings more awareness, more sponsors, more people. With more people brings more media coverage. “Cancer is diagnosed every twenty-three seconds” (Rock 1). Cerebral palsy is diagnosed in “two of every one-thousand births” (Odding 1). A-T is diagnosed in one out of forty-thousand births. Hence the reason why cerebral palsy and cancer get more attention than my cousin’s disease. When it is not known and when such few people have it, it is impossible to make known as well as other diseases. When my cousin met Ben Affleck, TV News stations, radio stations, and magazines went crazy. A celebrity befriending a child with a disability sells. Not only did Ben meet my cousin, Joe, but they became good friends. This brought the media in to Joe’s life; his home, his head, his heart. Ben has helped bring light to A-T. This disease is becoming more and more known each day. PEOPLE magazine did a spread with my cousin and his family with Ben Affleck a few years ago. It was such a great day when it was published. All of us attached to A-T felt like there was hope for a cure. The next month’s issue had its typical “What did you think?” section where people write in about past articles from the previous month’s magazine. Many people commented on Joe’s interview. This means that the disease got to them and they were touched by it and and the connection Joe and Ben have. Joe and Ben continue to be good friends. He is hope, he is light and he’ll continue to be this to A-T and to my cousin. Cerebral palsy and cancer continue to gain publicity and money because they put themselves out there and this is exactly what A-T needs to continue to do. We need to continue to connect to the media, the internet, and the advertising at marathons.

 

Read the first PEOPLE magazine interview with Ben and Joe here:   http://www.people.com/archive/article/0,,20134995,00.html

   What does this say about our culture? We are media obsessed. A disease so rare, so unknown, is able to come known because of TV stars, Access Hollywood, TV News, PEOPLE magazine, and much more. If more and more of us make blogs, or advertise A-T at marathons, gatherings, and special events, a cure looks more and more possible.

So what can YOU do? To stay updated, visit the A-T Children’s Project website at http://www.ATCP.org. On this website, you can donate money to the foundation or sign up to support runners in marathons or sign up to run one yourself! Friends and family of A-T patients run or walk the Walt Disney World Marathon, San Antonio Marathon, Princess Half Marathon, Chicago Marathon, Danskin Triathlon, Expedition Everest Challenge, and the Marine Corps Marathon. 

 

 

You could also follow in Tim Borland’s footsteps — he ran sixty- three marathons in sixty-three days.

 

My cousin and the other children battling this rare disease struggle every day but hold a smile on their face. Isn’t this something you want to be a part of? Together, let’s find a cure.

 

*All information on this website has been from the A-T Children’s Project Website created by Brad and Vicki Margus unless otherwise specified.