Before you read on, make sure to check out Part 1 of Kristin and Kayden’s story. In Part 1, Kristin discusses the diagnostic journey and how Kayden was diagnosed with a dermal sinus tract, tethered spinal cord, and Chiari malformation. Today, we’ll discuss what a Chiari malformation is, advice for other families, becoming an advocate, and the family’s upcoming rare disease awareness event! 

Chiari Malformation: An Overview

Chiari malformation is a condition in which brain tissue extends into the spinal canal. It may develop when part of the skull is misshapen or smaller than normal; this puts pressure on the brain and forces it downwards. This may also block cerebrospinal fluid flow. 

There are three Chiari malformation subtypes: I, II, and III. Type I develops as the skull and brain are growing in the congenital form; it may also be acquired after birth. Next, type II is congenital (meaning present at birth). Finally, type III is also congenital and is the rarest and most severe form. Because Kayden has type I, we are going to focus on signs, symptoms, and manifestations solely for that type.

Many people affected by Chiari I malformation go for their whole life without experiencing symptoms. Says Kristin:

“It’s a Catch 22 for me. While I’m glad we know he has it, he may go his whole life without symptoms. But every time he falls or hits his head or complains of a headache, it’s hard not to jump to, ‘Oh my god, is this more serious? Is something changing?’ I can’t chalk it up to ‘normal kid stuff,’ because you never know. It’s hard not to worry. I don’t know what two years will bring for him. Is he going to need brain surgery, or is he not going to need anything?” 

Symptoms and Treatment

Oftentimes, if symptoms of Chiari I malformation do manifest, they appear during late childhood or adulthood. These can, but do not always, include:

• Dizziness
• Problems with balance and coordination
• Headaches which may occur after sudden straining, sneezing, or coughing
• Difficulty swallowing with occasional gagging or choking
• Neck pain
• Numbness of the hands and feet
• Blurred or double vision
• Hoarse voice
• Tinnitus (ringing in the ears)
• Scoliosis
• Central sleep apnea or other bouts of abnormal breathing
• Slowed heart rhythm

Currently, surgery (posterior fossa decompression) is the most common treatment for Chiari malformation. Additional therapeutic interventions include a shunt to drain excessive fluid from the brain and skull.

Advice for Other Families 

When it comes down to offering advice, Kristin was adamant about one thing: stay away from Doctor Google and instead find a doctor that you truly trust. In the rare disease world, there are many conditions that are underdiagnosed, under-researched, and poorly understood. As a result, there are many different theories or ideas floating around. But Kristin says:

“You need to find a doctor that you trust with your child, that you trust to give you accurate information, and that you trust to do the right thing for their health. If not, you’re going to have a hard time. And if you do end up turning to the Internet anyways, skip Google and head to NORD.” 

Becoming an Advocate

Managing a rare disease—as a patient or caregiver—can be isolating and sometimes exhausting. For the first year of Kayden’s life, Kristin spent a lot of time fearing the unknown or the “what ifs.” She felt alone and desperately wanted to connect with someone else who understood what she was going through. Everything online felt scary, as though it was the worst-case scenario.

Then it hit her: she could make a change by sharing this story to help others and to cultivate a community. She turned her Instagram page public and began sharing stories of Kayden, his recovery, and his disease states (using targeted hashtags). Within a day or two of posting, she began getting messages from other families around the world—from Munich and Dubai to Ireland and throughout the United States. It is truly amazing what social media can do. Says Kristin:

“The hardest part of this journey is connecting with people. The rare disease community is unique, but each disease is a little siloed. You’re all going through something similar—fighting insurance, trying new medications, going to more doctor appointments than you can count—but also separate. It’s stressful and hard, so figuring out who your people are is important. I’ve learned so much on this journey and it’s important to share that. I just want people to know that they’re not alone.” 

As part of their advocacy work, Kristin and Matt are holding an event at Centene Community Ice Center in Maryland Heights, MO on Tuesday, March 7 from 5-7:30pm. Given that they have their own event planning company, and that Matt used to play professional hockey, it just seemed like the perfect fit. 

The event, entitled “Skate Under the Stars: A Rare Disease Celebration,” will give rare disease warriors the opportunity to get onto the ice and have a good time. Kristin shares:

“There are different levels of mobility and abilities within the rare disease community. We wanted to create an event that is accessible for everyone. This will be a chance for children in wheelchairs, with movement issues, with any rare condition or any need to get out on the ice and skate. Patients and a guest will have sole access to the rink from 5:30-6:30pm, and then every event attendee can join in at 6:30pm. We’re just so excited to do this, to really connect all of these people in similar situations in a fun, meaningful way.” 

If you would like to register for “Skate Under the Stars,” you may register here.