25 min
Rare Mama - Nikki McIntosh - Navigating Life with Rare Once Upon A Gene
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- Personal Journals
Nikki McIntosh has been featured on The Disorder Channel in Life & Atrophy, a film about the day-to-day of raising a child with Spinal Muscular Atrophy and as a guest of Once Upon a Gene TV. She hosts a community called Rare Mamas where she shares tips, tools and inspiration for moms raising a child with a rare disease.
EPISODE HIGHLIGHTS
How did you enter the world of rare?
My husband and I have two sons, Mason and Miles. Miles has a rare degenerative neuromuscular disease called Spinal Muscular Atrophy (SMA). We were a typical family- young parents when we had our first son who was healthy. When we had our second son, we felt something wasn't quite right and that he wasn't reaching the same milestones. We started down the path of seeking answers and Miles was diagnosed after about six months at 18 months old.
What was it like finding out that you and your husband were carriers for SMA?
I was so naive before entering the world of rare disease. I didn't know so many rare diseases existed. To learn that we were carriers and to know something was lying in our genes unbeknownst to us was shocking. There was a level of guilt and we wrestled around with those feelings a lot in the beginning. It was a tough time trying to understand and accept and to determine how to move forward in a new way of life.
Did you isolate yourself from friends and family or suffer from depression?
I felt so weak and sad in the beginning that I didn't want to step outside my home. Once we got the answers we were looking for and got a diagnosis, I didn't want to talk to anyone about it. I went through a time of not understanding the disease, I didn't want to answer questions people may ask and I didn't have the answers to those questions. We went inward and closed off everyone except the doctors and healthcare team.
What changed for you to choose hope over despair?
What resources helped you along the way and what inspired Rare Mamas?
What is your mantra?
LINKS AND RESOURCES MENTIONED
The Disorder Channel Website
https://www.thedisordercollection.com/
The Disorder Channel Amazon
https://www.amazon.com/The-Rare-Outreach-Coalition-Disorder/dp/B088T3PSSH
The Disorder Channel Roku
https://channelstore.roku.com/details/58305adaac080acdfc952dbeef3c27d8/the-disorder-channel
Disorder Rare Disease Films Youtube
https://www.youtube.com/channel/UCYPzJqCJmStgR32T_5031tQ
Episode 065 - Beginner’s Guide to Rare Disease- Anecdotes for Those Early Days of Diagnosis - Daniel DeFabio
https://effieparks.com/podcast/episode-065-beginners-guide-to-rare-disease-daniel-defabio
CONNECT WITH NIKKI MCINTOSH
Rare Mamas Website
https://raremamas.com/
Rare Mamas Facebook
https://www.facebook.com/RareMamas1/
Rare Mamas Instagram
https://www.instagram.com/Rare_Mamas/
Rare Mamas Blog
https://raremamas.com/category/start-here/
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/
Nikki McIntosh has been featured on The Disorder Channel in Life & Atrophy, a film about the day-to-day of raising a child with Spinal Muscular Atrophy and as a guest of Once Upon a Gene TV. She hosts a community called Rare Mamas where she shares tips, tools and inspiration for moms raising a child with a rare disease.
EPISODE HIGHLIGHTS
How did you enter the world of rare?
My husband and I have two sons, Mason and Miles. Miles has a rare degenerative neuromuscular disease called Spinal Muscular Atrophy (SMA). We were a typical family- young parents when we had our first son who was healthy. When we had our second son, we felt something wasn't quite right and that he wasn't reaching the same milestones. We started down the path of seeking answers and Miles was diagnosed after about six months at 18 months old.
What was it like finding out that you and your husband were carriers for SMA?
I was so naive before entering the world of rare disease. I didn't know so many rare diseases existed. To learn that we were carriers and to know something was lying in our genes unbeknownst to us was shocking. There was a level of guilt and we wrestled around with those feelings a lot in the beginning. It was a tough time trying to understand and accept and to determine how to move forward in a new way of life.
Did you isolate yourself from friends and family or suffer from depression?
I felt so weak and sad in the beginning that I didn't want to step outside my home. Once we got the answers we were looking for and got a diagnosis, I didn't want to talk to anyone about it. I went through a time of not understanding the disease, I didn't want to answer questions people may ask and I didn't have the answers to those questions. We went inward and closed off everyone except the doctors and healthcare team.
What changed for you to choose hope over despair?
What resources helped you along the way and what inspired Rare Mamas?
What is your mantra?
LINKS AND RESOURCES MENTIONED
The Disorder Channel Website
https://www.thedisordercollection.com/
The Disorder Channel Amazon
https://www.amazon.com/The-Rare-Outreach-Coalition-Disorder/dp/B088T3PSSH
The Disorder Channel Roku
https://channelstore.roku.com/details/58305adaac080acdfc952dbeef3c27d8/the-disorder-channel
Disorder Rare Disease Films Youtube
https://www.youtube.com/channel/UCYPzJqCJmStgR32T_5031tQ
Episode 065 - Beginner’s Guide to Rare Disease- Anecdotes for Those Early Days of Diagnosis - Daniel DeFabio
https://effieparks.com/podcast/episode-065-beginners-guide-to-rare-disease-daniel-defabio
CONNECT WITH NIKKI MCINTOSH
Rare Mamas Website
https://raremamas.com/
Rare Mamas Facebook
https://www.facebook.com/RareMamas1/
Rare Mamas Instagram
https://www.instagram.com/Rare_Mamas/
Rare Mamas Blog
https://raremamas.com/category/start-here/
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/
25 min