Rare Opportunity for a Rare Disease
“When we had our first child, Braun, we noticed his in-balance and heavy drooling,” says Amy. “He started to walk at 8 months, and instead of taking steps, he would run and fall. At first, we just discarded it – I would laugh and say he was always in a hurry like me, but when it continued we began our long search for answers.”
“My pediatrician suspected A-T, but never discussed it with me,” Amy added. “To confirm, he sent us to a children’s research hospital in Oklahoma City where a neurologist diagnosed him with cerebral palsy – a very common misdiagnosis for A-T children. The doctors assured me that he would “outgrow IT” and chastised me for being so worried about my son.”
This news came two weeks before the Madison’s daughter, Jamie, was born. She showed no signs of any neurological issues, and nearly three years later, they welcomed a son, Robert Andrew (Andy).
“Andy started falling and drooling – it was like déjà vu. It was our worst fear confirmed: our children had a genetic disease and we didn’t know what it was or how to help them. We went through 20 specialists in five states over a period of 11 years before we knew.”
The final diagnosis came in 1994 on David Madison’s 40th birthday: all three children had A-T, a rare genetic disease that causes a loss of muscle control, immune system deficiencies and cancer. Most children are in a wheel chair by the age of seven and usually do not survive their teens.
“Imagine a disease that combines the impact of Cerebral Palsy, Cystic Fibrosis, AIDS, Cancer, and Muscular Dystrophy and you have Ataxia Telangiectasia,” Amy said. “It was worse than any prior diagnosis by far, but at least we knew what we were dealing with and could go to work.”
The diagnosis set the stage for what all A-T families encounter: gifted children who start out healthy are forced to adapt as A-T progresses.
“We were given one page out of a research book from a geneticist who really knew very little about it – and this from a major children’s research hospital,” says Amy. “Later I would learn that most of the information he provided was incorrect and outdated. All I knew was that we had been given a death sentence and then told to go home and rest. Rest was not part of our equation.”
After a sleepless, prayerful night, Amy decided to take the family dog for a walk to get her mind off things and stopped to visit with a neighbor having a garage sale. His wife had died with complications from Spina Bifida, and he was selling everything to move in with his daughter. He was an ardent reader of a newsletter published by the National Organization for Rare Disorders and was selling the most recent edition for 25 cents. Amy bought it and went home hoping there would be someone she could call.
“I tossed the brochure on the kitchen table and it opened up to an inside page. At the very top it said ‘Newly Organized Foundations’ and at the top of the list was Ataxia-telangiectasia Children’s Project located just two hours from my home! I dialed the number and spoke with the co-founders, Brad Margus and his wife, Vicky, who had two A-T children. Within 24 hours, Brad overnighted every piece of research on the disease – a five-pound package. It was an answer to prayer. It was the first, not the last time we would have divine intervention.”
Undaunted, the family dubbed themselves, The Madison Five, and began a grassroots effort to increase awareness and fundraise for the A-T Children’s Project. In 1999, Amy became Vice President of the ATCP board and continues to advocate and raise funds for research. The family has helped raise over $1.5 million for research over the years. In January 2013, Amy and her daughter, Jamie, raised nearly $10,000 for the 5K Family Walk at Disney World.
While she has had many experiences over the years that were “not coincidental”, learning about Exemplar Genetics’ research plan for A-T was one of the most profound.
“As an economic development professional I attend many recruiting trips and conferences. It was during my trip to BIO 2012 – an annual conference for bio-tech companies attended by over 50,000 people, that I had another life-journey experience.”
She was sitting with some people she knew from Austin during a break, when one of them left to say hi to a group of people nearby and invited them to our table. After introducing John Swart, PH.D., Exemplar Genetics President and his team, Dr. Swart explained that he had a research farm in Iowa and cloned pigs for rare disease research. Since he had no idea that Amy was connected to A-T, a rare disease impacting only the disease about 650 in the US, she decided to challenge him.
“I bet I’ve got one disease you’ve never cloned,” Amy said, confidently. “ I bet you have never cloned a pig for Ataxia Telangiectasia.”
“Well, yes, we are working on that right now. Please check out our website,” Dr. Swart responded, matter-of-fact. “I am interested in connecting with their organization, A-T Children’s Project.”
“You could have picked me up off of the floor. Out of 50,000 people at a conference, the chances of meeting someone researching A-T is very, very rare. Dr. Swart never dreamed that I was connected to the organization or a mother of three A-T adults. I told him that maybe I could help,” Amy said, laughing.
The Exemplar team attending the conference sat spellbound as Amy told them the story of her family and A-T Children’s Project. The conversation continued through dinner and the days remaining at the conference. The more she learned about Exemplar, the more convinced she was that this company ‘gets it.’
“They are a huge link to finding a cure for diseases that most researchers discard as too obscure. The families impacted by rare disease feel vastly different. I am just grateful that this company is willing to make a commitment to rare disease. Rare is special – and rare is the opportunity you meet people like the team at Exemplar.”
Today, the Madison Five are still involved in fund raising and advocacy, but they have also been very blessed with good health in spite of the fact that all three adults have been wheelchair bound since they were about 18 years old.
Braun, now 32, has found fulfilling work with the Spurs Sports Foundation and spends seven weeks every summer helping with the Boys Basketball Camp. Jamie, 30, has spent the past nine years taking six hours every semester and finally graduates December 2013 with a degree in mass communication. She recently accepted an internship with Aztec Events and Tents in San Marcos. Andy, 28, is active with his dog, Theo, an Australian Shepherd.
“Our journey is far from over, but it is good to know that A-T Children’s Project and Exemplar are working hard to find a cure. I am just honored to have played a role in bringing them together,” Amy said.