Their Daughter’s Diagnosis: Ataxia-Telangiectasia. The Treatment: Physical Therapy, Medication, and Love

The Catawba Virginia Farmers Market’s mission is to provide the Catawba community with  local produce and handicrafts. Stephanie and Donald Schneider owners of Pacaberry Farms have been vendors at the market for years.

In a recent interview with WDBJ-TV, Stephanie describes a call she received in 2018 from one of her young daughter’s pediatricians. Stephanie was tending their booth at the market when the call came in. After being told that her daughter, Olivia, may have ataxia-telangiectasia, the doctor cautioned her about performing her own research as the description of the disease can be alarming.

WDBJ-TV spoke with Liana Rosenthal, M.D, who is the Director of the Ataxia Center at Johns Hopkins. The Center works with approximately two to three hundred patients, with four to six patients newly diagnosed each year.

Dr. Rosenthal explained that ataxia is a specific form of a walking and balance problem in the cerebellum called “incoordination.”  Patients tend to walk and stand with their feet farther apart. Speech is sometimes slurred along with characteristic changes in eye movement.

Olivia’s Symptoms

Stephanie says that Olivia began to show troublesome symptoms almost from birth. Her problems began with ordinary sinus infections and almost weekly visits to the doctor.

Finally, Stephanie decided to take Olivia to an immunologist, who recognized Olivia’s symptoms and inquired whether Stephanie had discussed this with Olivia’s pediatricians. Stephanie explained that she had tried to have these discussions on many occasions but had been repeatedly dismissed.

Stephanie now realizes that ataxia-telangiectasia is a complex disorder that is difficult to diagnose. As a result, in addition to seeing various local specialists for physical therapy, medication, and exercise, the family must travel to the Johns Hopkins Ataxia Center for Olivia’s supportive care.

The family must be alert to Olivia’s constant fatigue, as it also forewarns the onset of cancer. Any damage to Olivia’s lungs would exacerbate her disease.

Olivia’s parents realize that this process can be overwhelming for their daughter, yet they want to be as honest as possible. She often asks why she must see so many doctors, and they must remain supportive and calm.

Stephanie and her husband Donald remain thankful for their little family and cherish the time they are together. They are grateful for every precious moment.

Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia (AML) six years ago. During this period of partial remission, Rose researched investigational drugs to be prepared in the event of a relapse. Her husband died February 12, 2021 with a rare and unexplained occurrence of liver cancer possibly unrelated to AML.

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