Local Parents Celebrate World Rare Disease Day

Local couple, Amber and Ryan, are joining others from all over the world in celebration of World Rare Disease Day, February 28th. For them, this special day is dedicated to their 4-year-old son, Parker.

Parker was diagnosed with a rare disease called KAT6A syndrome when he was 2-years-old. To date, there are just over 150 known cases of KAT6A in the entire world.

KAT6A is a rare syndrome resulting from a mutation in the KAT6A gene. Each person with KAT6A syndrome has a different mutation along the KAT6A gene, which leads to a wide range in symptoms and features.

Common traits of KAT6A include: developmental delay, intellectual disability, feeding difficulties, constipation, acid reflux, significant speech and language deficits, heart defects, seizure disorders, frequent infections, sleep disturbances, abnormal muscle tone, vision problems, behavioral challenges, small head size and distinct facial features.

Despite global developmental delays, many parents describe their children as healthy and very happy. This is exactly how Amber and Ryan talk about Parker.

Like most kids his age, Parker is happy, energetic, loving and affectionate. He loves to play outside and ‘anything with buttons’. Although he can be quiet when meeting new people, it doesn’t take him long to warm up and socialize.

Parker’s Mom, Amber says: “We’ve never really looked at Parker as a child with a rare disease. He is a unique child with some unique needs, but Parker is Parker. And that is pretty great!”

Today is a day to celebrate Parker and all the ways he is wonderfully unique, but also a day to raise awareness amongst the general public and medical professionals about more than 7 000 rare diseases across the globe. Of these 7 000, more than 90 % are still without an FDA (Food and Drug Administration) approved treatment.

KAT6A is so rare, that at the time of Parker’s diagnosis, his parents and doctor were learning about it for the first time. In search of information they weren’t able to easily access in the medical community, Amber and John immediately joined an online community with other parents of children with KAT6A. In this group, parents from all over the world are able to share their experiences to connect, celebrate and provide support for each other.

The KAT6A Foundation, founded in 2017, is another organization providing support for families and actively advocating for individuals with the rare disease.

Meg Salisbury, Australian Mom from the KAT6A Board of Directors, uses her experience with her daughter Ginger to explain what success would look like to her as a rare disease advocate. She sums it up into two words: understanding and inclusion.

Providing an education and understanding of rare diseases is beneficial for
both those living with the disease as well as everyone around them. Meg explains that her daughter’s presence in the classroom will help other kids learn understanding, acceptance, patience and resilience and as she put it, “What parent wouldn’t what their child to learn these qualities?”.

Parker’s parents agree that school is also a positive experience for their child, his classmates and his teachers. They are thankful to have a support system that is able to help Parker reach is full potential. Parker has built many special friendships within his class and he looks forward to the time he gets to spend at school.

On World Rare Disease Day, we put the spotlight on millions of individuals in the world just like Parker.

Parker’s Mom, Amber says that despite needing some additional help, those living with KAT6A are just like everyone else. Like any child, Parker brings his own unique qualities into his family, his social group and his classroom.

Parker’s parents hope that raising awareness will help those living with rare diseases feel accepted and ultimately feel seen as more than a diseases or disability.