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A Very Rare and Very Real Adventure with DeSanto-Shinawi Syndrome Mom and Author of a Very Rare Adventure – Katie Lloyd

Once Upon A Gene

A Very Rare and Very Real Adventure with DeSanto-Shinawi Syndrome Mom and Author of a Very Rare Adventure – Katie Lloyd

March 10, 2022

A Very Rare and Very Real Adventure with DeSanto-Shinawi Syndrome Mom and Author of a Very Rare Adventure – Katie Lloyd

ONCE UPON A GENE – EPISODE 125

A Very Rare and Very Real Adventure with DeSanto-Shinawi Syndrome Mom and Author of a Very Rare Adventure – Katie Lloyd

Katie Lloyd is a mama to Kasper, who has a rare genetic disorder called DeSanto-Shinawi syndrome and she’s joining me to talk about postpartum depression and mental health. Be sure to check out her blog, A Very Rare Adventure.

EPISODE HIGHLIGHTS

Can you tell us about Kasper?

Kasper is almost three years old and he has DeSanto-Shinawi syndrome. Kasper is most affected by hypotonia, he’s non verbal, he has the dysmorphic facial features that are specific to the disease and developmental delays. Kasper had infantile spasms which aren’t common for children with his syndrome, which makes him even more rare.

When did Kasper begin experiencing infantile spasms?

He was 9 months old when they started and we knew something wasn’t right despite our pediatrician suggesting otherwise. We were able to record an episode and we sent it to the pediatrician who referred us to a neurologist. Following an EEG, he started anti-seizure medicine and the spasms went away within days.

What has the rare disease journey been like for you so far?

In the beginning, I became very exhausted due to a lack of sleep and being home all day with an unhappy baby. It was hard as a mom, not being able to solve the problem and knowing something wasn’t right. I started feeling sad and crying all the time. Comparing experiences with my friends, I began wondering what I was doing wrong and thinking I wasn’t made to be a mother. I can be gentler and more compassionate looking back now, but at the time it was very hard. 

What has helped you have a sense of acceptance?

Getting the diagnosis helped because before it, I felt so lost. I was stuck thinking it must be me, I must be doing something wrong or I was to blame, so having answers helped me to rationalize that and free myself from blame. 

What is your advice for parents who are feeling the symptoms of anxiety or depression and feel ashamed to speak out?

Don’t hide it, find a friend or a support group to confide in. Talk to your doctor and seek out services. Just don’t suffer in silence.

CONNECT WITH KATIE

Instagram @averyrareadventure

https://www.instagram.com/averyrareadventure/?hl=en

LINKS & RESOURCES MENTIONED

A Very Rare Adventure Website

https://averyrareadventure.com/

Rare and Relatable on Discord

https://discord.com/invite/7UFUPAFs8K

ONCE UPON A GENE – Episode 117 – A Rare Collection – New Beginnings

https://effieparks.com/podcast/episode-117-new-beginnings

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/

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