Barrington Family Champions for Tuberous Sclerosis Complex Research

The Talk in 60010
July 10, 2017

Kelly and Randall Madison went into their 20-week ultrasound knowing they did not want to know their baby’s gender and wanted it to be a surprise.

Unfortunately, the ultrasound revealed surprises no expectant parent could be prepared to learn.

The ultrasound revealed something on their baby’s heart. Four months later they learned their daughter, Isabel, has a rare genetic disorder, Tuberous Sclerosis Complex (TSC), causing tumors to grow on vital organs throughout her body. As a newborn, they discovered Isabel had tumors on her heart as well as her skin, eyes, and brain.

According to the Tuberous Sclerosis Alliance (TSA), TSC is a genetic disease with one-third of those diagnosed inheriting the gene from a parent and the remaining two-thirds having experienced a ‘spontaneous and unpredictable mutation’ during or soon after conception. Tuberous Sclerosis Alliance also shares that an estimated one in 6,000 births will result in a Tuberous Sclerosis Complex diagnoses.

Like many genetic diseases, TSC manifests itself very differently in those diagnosed. It is a very complicated disease with a wide range of impact and severity of cases. Kelly and Randall learned early on that Isabel has one of the more extreme types of the disorder. At just five months she started experiencing seizures, sometimes as many as a dozen a day, causing Isabel physical and developmental delays. Doctors prescribed the medication Afinitor starting at 11 months and Isabel started to improve. Unfortunately, the side effects, including a compromised immune system, made it necessary for the Madisons to take Isabel out of daycare. The medication was showing so many positive results, including the disappearance of her eye and heart tumors, the decision was made to go from a two-income household down to one. Keeping Isabel infection free is a constant challenge.

“Isabel ends up doing a lot of her communication through Facetime, a blessing since it keeps her in a germ-free bubble,” Kelly shared. “And we’re lucky to have so many friends and family members that are conscious of her condition and make sure they keep their under the weather children at a safe distance.”

Although Isabel’s condition had improved on the medication, therapists were concerned that her physical development was too slow. A family friend recommended trying the Anat Baniel Method that had helped a child with cerebral palsy. Frustrated with all of the non-insured therapies Isabel required, Kelly and Randall were not excited about adding another program to the calendar.

“It is simply exhausting living your life around a non-stop therapy schedule when you so badly just want to pretend everything is normal. It’s a constant reminder that your kid is different,” Kelly explained.

After speaking to Suzi Marks, an Anat Baniel Method practitioner, they decided to give it a try. From their very first session, they have been amazed at the results. Now two-years-old, she is able to roll side to side and scoot herself around. She is also finding her voice. Surprising Kelly with a spontaneous, “Hi Mom!” Kelly wonders how much Isabel is thinking that she can’t communicate.

“The small stuff matters,” Kelly stresses. “It matters that Isabel can now use a KidsMe spoon and get oatmeal to her mouth almost all by herself each morning. It matters that Isabel rolls both to the right and the left now. It matters that Isabel can track items from side to side and up and down. It matters that she can squeeze me even tighter when she gives me a hug and hold my hand.”

The Madisons have been participating in trials for new medications and therapies including CBD Oil & Haleigh’s Hope. They are also championing support for Tuberous Sclerosis Complex research through the not-for-profit Bcureful. Helping to fund PREVeNT, a drug study aimed at preventing or delaying seizures experienced by TSC infants, the hope is to improve long-term neurologic outcomes. Unfortunately, 80 % of children with TSC develop autism in their first three years of life.

Heal Team 6 is hosting a fundraiser, Star of the Show – Isabel Bash on September 15th, 2017 at the Marriot Lincolnshire Resort. Proceeds will support the efforts of Bcureful.

Learn more how to support Bcureful and the Star of the Show event by clicking here

Kelly and Randall Madison know that although Isabel may not be able to lead what is considered a ‘normal life’ she will make her mark on the world.

“In fact she already does. Over the last three years her TSC walk team raised over $40,000 for research funding,” Kelly added. “The Afinitor study she’s a part of is bringing new treatments to people with TSC. And hopefully, by sharing this story, she will be spreading the word about Tuberous Sclerosis Complex, which will help find a cure for her and all the people affected by this terrible disorder."