Parents of twin boys hope for a cure to a rare genetic disorder

Published: Nov. 14, 2023 at 10:37 PM CST
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EAU CLAIRE, Wis. (WEAU) - It’s a diagnosis that could leave parents feeling hopeless for the future of their kids.

That is the reality for Erin and Dustin Binder after being diagnosed with Pantothenate Kinase-Associated Neurodegeneration, PKAN for short.

“Everyone says they’re sweet boys and they are. They are really sweet,” said Erin of her twin boys Grady and Jace.

The rare genetic disorder is also considered incurable and terminal.

It has left the Binders speechless and devastated.

“I don’t know. I kind of expected maybe not something quite as cruel of a disease. I didn’t think it would be something so, so incurable,” said Erin.

The Binders flew out to Oregon to meet with Dr. Susan Haylfick.

She is a medical geneticist with Oregon Health & Science University and has studied PKAN for 30 years.

“It affects a deep structure in the brain that is important for controlling movement. It gets in the way of the person walking and reaching for a spoon and their food,” said Dr. Hayflick.

She said the genetic disorder affects 1 in a million people, and most physicians have never seen a case in their careers. She is who people turn to for more information.

The twin boys experience shaky hands and over arched feet, which Dr. Hayflick said are muscle spasms that do not go away for long periods of time throughout the day.

The Binders said they noticed something was not right when the boys missed milestones at around 4.

“I feel like nine on is kind of one. We saw a lot more changes with more dystonia in their hands for contractions,” said Erin.

Grady and Jace undergo physical therapy at a Prevea Health Clinic, and the family travels to Gillette Children’s Hospital in Minnesota for treatment.

Each case is different. Dr. Hayflick told the Binders on their visit to Oregon that the boys have a severe form of atypical PKAN.

There is also classic PKAN.

“I don’t believe the boys truly understand the diagnosis. It’s tough to tell a 12 year old child what could possibly happen down the road,” said Dustin.

Dr. Hayflick said there is a gene therapy being fast tracked right now that shows promise and hope for a cure.

It will cost somewhere around $4 million to $5 million dollars.

The Binders hope word spreads so a cure can be found and PKAN will cease to devastate families down the road.

“Somebody could see our children and their their precious smile that they have. Why? Why would an innocent child be diagnosed with a rare disorder like this?” said Dustin.

There are fundraising efforts, and you can learn more about them and the Binder twins here. A GoFundMe for the boys is also available here.

Dr. Hayflick said some patients die younger than 10-years-old, but the oldest patient she knows has lived with PKAN into her 80′s.