Parker Boyer and his family know many of the obstacles that rare disease patients face; they’ve encountered many of them since Parker’s birth. In fact, they dealt with a number of issues before their son even received the correct diagnosis of Wiedmann-Steiner syndrome (WSS).
Parker’s Story
Since he was born, Parker’s parents have noticed that he develops at a slow rate. He picked up speech late, wasn’t growing at a normal pace, and his teeth grew in extremely early. Numerous doctors were alerted and asked, but none could provide a concrete answer for four years. They told the family that Parker had everything from an allergy to milk to cystic fibrosis.
When the Boyers’ insurance company finally allowed them to get a genetic test for Parker, they finally found the correct diagnosis: Wiedmann-Steiner syndrome. While it was reassuring to finally put a name to the symptoms, the Boyers quickly encountered obstacles that many rare disease patients face.
Raising a Child With a Rare Disease
When the Boyers were finally given the correct diagnosis, they thought they would meet other families touched by the same condition. This did not happen, as there are only about 1,000 people throughout the world who have WSS.
Additionally, the family was confronted with the high cost that often comes with a rare disease. They find themselves paying high copays, or even out of the pocket, for appointments and treatments that Parker needs. While various disability programs exist to help people, none of them apply to the Boyer family.
Now that Parker is six, he attends kindergarten, lighting up the school wherever he goes. He faces challenges here as well, mainly because the school has no background in WSS. Fortunately, his school does everything that they can to provide services for Parker, like a shorter desk and pencil with a special grip.
He should be receiving services outside of school as well, but due to the rarity of his condition, only limited services exist. He sees specialists, too, but they do not provide exactly what he needs. They’re also expensive, and navigating the maze that insurance puts up is exhausting.
Rare Genes Movement
To solve the various problems that they face, the Boyers launched the Rare Genes Movement, a foundation that brings together families that have received a rare disease diagnosis. It’s still being put together, but it has applied to be a nonprofit, marking a large step forward. One day, the foundation hopes to finance scholarships, help families with expenses, forge bonds between rare disease patients, and create some hope.
A Mother’s Advice on Raising a Child with a Rare Disease
Melissa, Parker’s mother, has a number of tips for parents raising a child with a rare condition. She lists them as:
- Always follow your own instincts, as it can save your child’s life. Sometimes the doctor gives an incorrect opinion or misses something. It can be up to you to advocate for more.
- Have the right mindset. “This didn’t happen to you. This happened for you.”
- Find those around you who understand
- Get ready to be a trailblazer. Rare diseases often lack research, awareness, and advocates. It may be up to you to forge your own path.
- Take things step by step when you’re overwhelmed.
- Ask for what you need. Show those around you how to best support you.
About Wiedmann-Steiner Syndrome
The KMT2A gene is mutated in those with WSS. Inherited in an autosomal dominant pattern or the result of a sporadic mutation, this gene is responsible for a histone-modification enzyme, which helps other genes express properly. When this enzyme cannont function properly, affected individuals will experience developmental delays, low muscle tone, intellectual disability, eye and skeletal abnormalities, seizures, feeding issues during childhood, hypertrichosis, and distinctive facial features. It is important to note that these symptoms vary between each individual, and medical professionals are still learning more. A team of specialists can best treat WSS, as they can best respond to the various symptoms. Occupational, speech, and physical therapy are often used, and further treatment is symptomatic.
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