I Learned I Couldn’t Do This Alone

Like so many parents in the rare disease community, Cindy and Mike Parseghian spent years chasing a diagnosis for their son Michael. After their first pediatrician thought Michael was probably just a bit clumsy, Cindy and Mike, a physician, weren’t convinced and kept searching. Eventually, they traveled from their home in Arizona to Columbia University in New York City, where they first learned that Michael might have a rare genetic neurodegenerative disease that leads to the progressive deterioration of the nervous system. Back home, all four of Cindy and Mike’s children — Ara, Michael, Marcia and Christa — were tested. In 1994, Michael was officially diagnosed with Niemann-Pick disease type C, along with his sisters, Marcia and Christa, while Ara, the eldest, tested negative.
‍
After a few weeks of pure grief, the Parseghian family launched the Ara Parseghian Medical Research Foundation. Nearly 28 years later, Cindy has endured the loss of Michael, Marcia and Christa. Today, she continues her crucial work raising donations to support the critical research. Mike and Cindy also spend time with their son Ara, his wife and their two grandchildren. She spoke with AllStripes about asking for help, the importance of adding NPC to newborn screening panels and why she believes AllStripes research programs can advance therapeutics to children with NPC who really need them.

Honestly, before the kids were diagnosed, I always thought of myself as a very independent woman and that I could take care of whatever needed to be done. But after my kids were diagnosed, I realized that we couldn't do it alone. 

Our family was truly blessed by the people that have supported us and held us up in so many different ways. The karate instructor who said, "I'm going to let your kids do karate as long as they want to." The people who volunteered and came to help with the foundation even though they didn't know us, but they'd read about us and said, "I want to help." The children’s friends made their lives full and taught me the true meaning of friendship.

Our children were diagnosed in 1994. Michael was 7, Marcia was 6, Christa was 3. Ara was 10, and he tested negative. After a couple weeks of just pure grief, pulling our hair out, a lot of crying, cursing God, we started talking about starting a foundation. The Ara Parseghian Medical Research Foundation was up and running by November of that year because we wanted to make sure that we could do year-end fundraising, which was important to launching the Foundation.

At first, we thought we were going to take the kids out of school and show them the world. Yet, we realized what they wanted was to be with their friends.

They wanted to be in the classroom. They wanted to participate in karate, to attend dance class and, most importantly, spend time with their friends. And we were blessed by a school district that just really supported them. They were an integral part of every single classroom they were in. This is what gave them meaningful lives and friendships.

As you can imagine, the physical needs of the children increased over the years. There were two women who helped us care for them, who became an integral part of our lives. My mom absolutely helped too. She dropped everything she was doing in her life up in Colorado and moved in with us. She just literally gave up her life to come and help us. And she did anything, from cooking to cleaning to babysitting. She'd be the first one in our foundation office turning on the lights, writing thank-you notes.

Michael died from NPC complications just four days shy of 10. We’d just gotten him a new wheelchair — we really thought we had more time. Christa, our youngest, died at 10 and a half. And then Marcia, the middle child of those three, died at 16 and a half. She used a wheelchair at the time and was on a feeding tube, but was very engaged with what was going on around her. That spring, her friends took her to prom. Marcia always had an aide when she was at school, but her friends said, "Well, the aide can come with us, but we're taking Marcia out for dinner first and we will feed her. We will feed her through her feeding tube." Then they took her to prom and got her out of her wheelchair and held her up so she could dance. Both Marcia and Christa attended dance class for many years, and had an incredible teacher who made sure they could participate with special support from other dancers.

In the spring of 2015, we merged the Foundation with the Parseghian Fund at Notre Dame. This marriage with Notre Dame has allowed us to continue to fund NPC research at the highest level while benefiting from Notre Dame’s mission to help the underserved. Dr. Sean Kassen is the director of the Fund and is doing a spectacular job of coordinating research, continuing our fundraising efforts and collaborating with other NPC patients organizations and families.

These days, I’m involved with the Fund when it comes to fundraising, relationships and high-level research opportunities. I continue to meet NPC families and understand the pain and stress they are suffering. My heart breaks for them.

We were drawn to AllStripes because we think the work that AllStripes is doing is very important and essential to making sure that research advances therapeutics that can be available for all children with NPC.

I know my children’s medical records are invaluable and can help drive research forward. I know that others in the community can help by contributing medical records that can get research where it needs to be to really make a difference in families’ lives.

You talk to any pediatric neurologist who's treated children with Niemann-Pick, and they'll tell you how important early diagnosis and intervention is. Newborn screening — the ability to diagnose babies when they’re very young — is essential. We need to get NPC added to newborn screening panels, and learning more about NPC through medical records is one way we can do that.