ONCE UPON A GENE - EPISODE 057

SLC13A5 - TESS Research Foundation with Kim Nye

Kim Nye is the mother of four children and the President and Co-Founder of the TESS Research Foundation, a nonprofit organization on a mission to find better treatment options and a cure for SLC13A5— a rare disease that affects two of her kids.

EPISODE HIGHLIGHTS

Tell us about your children with SLC13A5 and about where your journey began.

We were living in England, in graduate school and we were having a baby girl. I had a typical pregnancy, was induced at 41 weeks and had a beautiful, perfect baby girl named Tessa. At one day old, we noticed she was having trouble feeding and turned blue when she had her first bath. At some point it became apparent that something was wrong and she was taken to intensive care, where our journey began. The next ten years was a series of misdiagnosis and inaccurate diagnosis. It was at one point she was thought to have had a stroke resulting from seizures. Her seizures were under control within a few weeks after being in NICU. She was on seizure medication that seemed to be working and all of her tests looked good. At her next appointment, she was diagnosed with benign idiopathic neonatal seizures which meant they didn't know why she was having them. At six months old when it was suspected she no longer needed to be on her seizure medication, she had a seizure and we weren't able to control them again over fifteen and a half years. By the time she was in preschool, she was diagnosed with catastrophic epilepsy and she spent a lot of time in the hospital. Her seizures were so severe, no one was confident she'd live to kindergarten. Her development was also noticeably off and still doesn't speak more than a few words to this day. In 2013, I gave birth to my fourth child, a little boy named Colton. Just like his sisters, he was healthy when he was born and passed all his initial baby tests. When he was about 12 hours old, I started noticing his trouble with feeding, his color wasn't quite right and then he started having seizures. 

Does it get harder to manage everything the older your kids get?

My kids are now 16, 13, 11 and 7 year old. Having a tiny baby with seizures is so stressful that there are things that actually get easier as they get older. You can better recognize seizures and you find a therapy and treatment rhythm that works for your family. What's much harder is that kids get bigger and not as cute to the general population. It was easier when I had a cute little preschooler and it's harder to have a support team when you have a young woman. And at some point, you shift from a worry about hitting milestones to what will happen to your child when you die and how much will fall on my two healthy children to provide their sibling's care. 

What do you do for Lily and Maggie to make them feel special?

If I can pull off a normal childhood for them, that is a success. Each summer we have a Moggie and a Mily week that's not anything extravagant, but time for just Lily or Maggie and I to do something they want to do. We try to carve out small moments anytime we can. 

How do you keep your marriage from being transactional?

We weren't good at it in the beginning. We didn't make time for dates, I dropped out of graduate school and my husband was growing his career. We fell into stereotypical roles and didn't make much time for each other because there was so much going on. Now, we make more of an effort to do things together. 

How do Maggie and Lily deal with the day-to-day having two siblings with a rare disease?

They are really lucky to have one another. It's nice for them to have someone going through the same experience they are having two siblings with significant needs. They are lovely with Tessa and Colton and the four of them are just siblings. They have a strong sense of empathy and are really good reading people's needs and emotions because they have two siblings that require that. 

The TESS Research Foundation has been awarded the CZI Rare As One Initiative. What's going on right now with the fund?

We feel so lucky to be a CZI Rare As One Grantee Organization. It's really an honor. It's a capacity building grant and the idea is to help us build internal infrastructure so we're more sustainable. In addition to funding, we also get training that helps us run the nonprofit. We're learning a lot about growing our research and family network, having good governance and treating the nonprofit as a professional organization. We started out asking friends and family for donations and we've grown through newly diagnosed families reaching out to their networks and we've applied for other grants and funding. We raise money to create model systems because SLC13A5 was a newly discovered disorder and nothing was in place when we started.

LINKS AND RESOURCES MENTIONED

TESS Research Foundation

https://www.tessresearch.org/

Sibshops

https://www.siblingsupport.org/about-sibshops

Undiagnosed Disease Program

https://www.genome.gov/Current-NHGRI-Clinical-Studies/Undiagnosed-Diseases-Program-UDN

CZI Rare As One

https://chanzuckerberg.com/science/programs-resources/rare-as-one/

TUNE INTO THE ONCE UPON A GENE PODCAST

Spotify

https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7

Apple Podcasts

https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347

Stitcher

https://www.stitcher.com/podcast/once-upon-a-gene

Overcast

https://overcast.fm/itunes1485249347/once-upon-a-gene

CONNECT WITH EFFIE PARKS

Website

https://effieparks.com/

Twitter

https://twitter.com/OnceUponAGene

Instagram

https://www.instagram.com/onceuponagene.podcast/?hl=en

Built Ford Tough Facebook Group

https://www.facebook.com/groups/1877643259173346/