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Social media connects parents of children with rare illness

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Anna Marie Lux
April 28, 2014

WILLIAMS BAY—Courtney Waller and Reece Mills felt so alone when they found out their infant daughter had a rare disease.

“Even the doctors were saying that they had never seen the disorder before,” Courtney said.  “As a parent, you want to do the best thing for your child. With no expert doctor or support group, you don't know if you are doing the right thing.”

Courtney knew there must be other families affected by Timothy Syndrome, an ultra-rare genetic disorder. Fewer than 40 people with the condition have been reported worldwide.

Courtney used the power of social media to find five other moms, who have children with the syndrome, in the United States and United Kingdom. Through her Facebook group, she also contacted two mothers who lost children to the condition and the woman who discovered it.

“This is a powerful message to send to other families who have children with rare diseases,” Courtney of Williams Bay said. “No matter how alone you feel, you may still be able to find those who understand your circumstances and can point you … to the best treatments available.”

She added: “As anyone in the medical and rare disease community will attest, it is not uncommon for the parents of these children to know more about the syndromes than their doctors.”

Born in October, Theodora is in stable condition and goes to a Milwaukee hospital once a month for evaluation.

The main characteristic of Timothy Syndrome is a heart condition known as Long QT, which causes the heart muscle to take longer to recharge between beats. The abnormality in the heart's electrical system can cause irregular heartbeats, which can lead to sudden death.

“This is the leading cause of death for Timothy Syndrome children,” Courtney said. “We were told at the time of her birth that the life expectancy is 2.5 years.”

In addition to the heart, the condition also affects the brain and the pancreas.

Through a Facebook group, Courtney and Reece have connected with a parent whose child with the syndrome is 22. Another parent has a child who is 8.

“When I hear about their birthdays, it gives us hope,” Courtney said. “It was such a relief to find other people thriving with this condition.”

Little Theodora is the youngest of four children.

“She's got that super-wide baby smile,” Courtney said. “She knows her mom and dad. If you looked at her, you wouldn't know she was sick.”

Part of what makes the child's journey remarkable is the way Courtney and Reece got a diagnosis for Theodora. She was one of a handful of babies to be diagnosed with Long QT while still a fetus.

“This was a direct result of my being asked to join a research study at UW-Madison, which used bio-magnetism to read a fetal electrocardiogram,” Courtney said.

Because of the research, Theodora was diagnosed with a specific form of Long QT within moments of birth and received treatments tailored to her specific form.

“This has greatly improved her chances for survival,” Courtney said.

Long QT has 13 forms, and most have no symptoms that are easily detectable. Many children and young adults die annually from undiagnosed and untreated cardiac arrhythmias, Courtney said.

“Most can be avoided with detection,” she added. “Dr. (Janette) Strasburger and the research she is conducting in Madison is a promising step towards detecting some of these fatal conditions. Without her research, Theodora would not be with us today.”

Courtney and Reece share their daughter's story to give hope to other parents.

“If you don't have hope, your life becomes nothing more than a study in sadness,” Courtney said.  “To get hope, I look for small miracles every day.”

The miracles can be as simple as Theodora smiling or sitting up for the first time.

“Children are tiny miracles,” Courtney said. “Every milestone they reach is a miracle. Rather than worrying about what can go wrong with them, you have to celebrate the small miracles in their lives.”

Anna Marie Lux is a columnist for The Gazette. Her columns run Sundays, Tuesdays and Thursdays. Call her with ideas or comments at 608-755-8264, or email amarielux@gazettextra.com.


 

 



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