From Rare Mom & Caregiver to Champ1 Advocate

Richelle Wissink is a rare mom and caregiver and became an advocate after her son was diagnosed with Champ1 as an infant.

I still remember our diagnosis day like it was yesterday. I can see myself in the kitchen with a pen and piece of paper frantically writing down the information the nurse was giving me over the phone. I remember the sinking feeling of my stomach when she told me that my son’s genetic reports had come back and there were a couple of things reported.

It was December 29 and I had been working on goals for the New Year, thinking of what 2018 would bring us. By the time I got off the phone, I didn’t want to celebrate a new year let alone plan out short and long term goals. I wanted to grab my son and hide with him under a pile of blankets.

Unknown. Rare. Limited research.

“I don’t normally advise our parents to do this, but you’re going to need to google this. Champ1 disorder. I think there might be a parent group online.”

To be honest, my husband and I already knew that our son had some moderate to severe delays and was …. complex. Our medically complex journey started the day our son was born. But I guess I was hoping for some tangible explanation. I have since learned that tangible and complex don’t go together.

We brought home our little blue eyed baby the day after he was born. They wanted to keep us
longer but I begged for them to discharge us. Our little bundle of joy would not stop screaming.
After many failed attempts of trying to breastfeed, we were insisting formula. The nurses continued to poke and prod and try to get this little babe to latch on; they laughed at his inability to do so, while I cried. They said he was just born and already confused. They continued to discourage the use of formula until late into the night. And then started the projectile vomiting and choking. It doesn’t surprise me that they let us go home with a starving baby and a nervous wreck, first time mother. The nurses believed me when I said I just needed to be in the comfort of my own home to get the hang of breastfeeding. I also didn’t want judgmental stares if we needed to use formula. I truly believe they assumed like me… that we would figure it out. What if we would have stayed? Would they have done more testing?

If only we knew then, what we know now. I can’t begin to imagine how different our journey
would look.

To describe the first 5 years with our son was like being given a map with a destination but no
directions on how to get there nor given a compass.

On December 29, 2017, our lives changed. After my son and I crawled out from beneath the pile
of blankets and I looked up the words scribbled on the paper ‘CHAMP1’, it was like we were
given a compass. Connecting with the Champ1 families was like being handed a small list of
directions. Being given a diagnosis of a rare disorder definitely did not give us many answers. In
the beginning, it felt like we inherited more questions than anything. But with our compass and
directions in hand, we started a new journey.

Over the years, our Champ1 community has grown a lot and we are headed into our 3rd Family/ Scientific Engagement Conference. I’ve had the privilege to meet one of the scientists who discovered the Champ1 gene. We’ve met other researchers around the world and recently traveled to New York for more in person assessments. I’ve worked alongside our amazing Champ1 Founders and other researchers to help shed more light specifically on the Champ1 deletion that my son has.

It’s 2023 and this beautiful boy with his contagious smile and ocean blue eyes is 11 years old. He is one of the hardest working people I know. He’s had years of specialized therapy. Occupational, Speech, and PT. He’s had eye surgery, tongue surgery, multiple procedures done in his mouth, nerve conduction tests, MRIs, sleep studies, swallowing and feeding tests, X-rays, assessments after assessments after assessments.

We take opportunities to celebrate our son and our other Champ1ons milestones and growth on
days like Rare Disease Day or on March 20th for our Champ1 Awareness Day. I take opportunities like this, to shed light on our mighty rare community. I have learned more from my son and his short journey than I have in my own lifetime. I have met some of the most incredible and strongest people I know, within our Champ1 community.

Along with finding the right treatment for some of the symptoms and ailments that come with
Champ1, I want more doctors, health care professionals, pharmacists, teachers, and therapists
to know more about it.

Alone we are rare. Together we are strong.

Please visit www.champ1foundation.org to read more about my sons journey and other Champ1ons too.

And in case you wondered whatever happened to my list of goals I was working on the day of the phone call….

Eventually, I came up with a new list…. It took time and I had to learn to modify things. We learned how important it was to measure progress and achievements by moments instead of by years.