Grandparents As Rare - Go Find Your Bike

 

PARENTS AS RARE - EPISODE 089

Grandparents As Rare: Find Your Bike, With Karen Richtman

 

Karen Richtman shares her patient story, shining light on her journey and her connection to Fatty Acid Oxidation Disorder (FAOD). In addition to being a parent as rare, she is also a grandparent as rare, and she has some wonderful aspirations for future support and advocacy. 

 

Life is like riding a bike. Balance yourself, hydrate frequently and be safe. It isn't how far or how fast you go that counts. No matter whether you are on a self-powered beach bike, tricycle, electric-powered or power-assisted bike (or chair), find joy in the moment. Celebrate the personal success you have, big or small, with assistance or without. It is the freedom of the wind in your face and the joy of the ride. Do what you can, love what you do, no judgment. —Karen Richtman

 

EPISODE HIGHLIGHTS

 

Can you start by sharing a little bit about yourself?

I'm 66 years old and I have five grandchildren and one on the way. I've been married to my husband Paul for 44 years. I've lived with chronic pain my whole life, but I'm an Energizer Bunny with a dying battery. My mito journey started when I was four years old, hospitalized for a reason not disclosed to me. When I was 12 years old, we had done hurdles in gym class and I couldn't walk the next day. The pain resulted every time I ran or did something athletic and none of my friends had the same pain. When I started college, I developed food allergies and I was falling asleep in class. I went onto law school and falling asleep in class was an ongoing problem. 

 

When did your symptoms push you to seek answers and medical guidance?

After my husband and I married I started to think about starting a family and saw my doctor for the pain. The doctor said I had a herniated disc and he also found a birth defect, which was an enlarged disc from a joint that hadn't fully developed in my lower back. I had surgery and we proceeded to get pregnant. I had a good pregnancy and our daughter was born when I was 24. We had our second child when I was 27. I was very tired and I had to nap often. After a back injury I sustained in PT, I had to have another surgery for a fusion at the age of 35. When I went back for a follow up, I let the doctor know that I was still in a lot of pain. I was referred and received a fibromyalgia diagnosis. After a while, I went back to the doctor because I didn't think the fibromyalgia diagnosis was correct. He referred me to another doctor and I had a muscle biopsy procedure. After months, the results came back that my body doesn't produce enough of the enzyme that transports fatty acids and I was diagnosed with carnitine palmitoyltransferase II (CPT II) deficiency. 

 

How did getting a diagnosis change your life?

It was life-changing and it was a turning point for me. I could stop seeking answers and move on to help others. When my doctor who was knowledgeable about and treating my mito passed away, my journey got complicated for years. Finding out there was a MitoAction support group for FAOD has been life-changing because I've met people who have the same diagnosis as me. Another turning point for me was getting an electric-assist bike because it was freeing and it helped me embrace my limits. Riding has helped me feel healthy and it makes me happy to be out in nature.

 

What has your experience been like as a grandparent?

My earliest experiences with grandchildren was exhausting. Being a grandma isn't much different than being a mom. I'm still a mom in every way you can imagine to my children, but as a grandma I've decided since I can't keep up with them, I'll be the grandma who makes things and teaches them to make things. I've been creative in thinking about what I can do that the kids will thin

 

PARENTS AS RARE - EPISODE 089

Grandparents As Rare: Find Your Bike, With Karen Richtman

 

Karen Richtman shares her patient story, shining light on her journey and her connection to Fatty Acid Oxidation Disorder (FAOD). In addition to being a parent as rare, she is also a grandparent as rare, and she has some wonderful aspirations for future support and advocacy. 

 

Life is like riding a bike. Balance yourself, hydrate frequently and be safe. It isn't how far or how fast you go that counts. No matter whether you are on a self-powered beach bike, tricycle, electric-powered or power-assisted bike (or chair), find joy in the moment. Celebrate the personal success you have, big or small, with assistance or without. It is the freedom of the wind in your face and the joy of the ride. Do what you can, love what you do, no judgment. —Karen Richtman

 

EPISODE HIGHLIGHTS

 

Can you start by sharing a little bit about yourself?

I'm 66 years old and I have five grandchildren and one on the way. I've been married to my husband Paul for 44 years. I've lived with chronic pain my whole life, but I'm an Energizer Bunny with a dying battery. My mito journey started when I was four years old, hospitalized for a reason not disclosed to me. When I was 12 years old, we had done hurdles in gym class and I couldn't walk the next day. The pain resulted every time I ran or did something athletic and none of my friends had the same pain. When I started college, I developed food allergies and I was falling asleep in class. I went onto law school and falling asleep in class was an ongoing problem. 

 

When did your symptoms push you to seek answers and medical guidance?

After my husband and I married I started to think about starting a family and saw my doctor for the pain. The doctor said I had a herniated disc and he also found a birth defect, which was an enlarged disc from a joint that hadn't fully developed in my lower back. I had surgery and we proceeded to get pregnant. I had a good pregnancy and our daughter was born when I was 24. We had our second child when I was 27. I was very tired and I had to nap often. After a back injury I sustained in PT, I had to have another surgery for a fusion at the age of 35. When I went back for a follow up, I let the doctor know that I was still in a lot of pain. I was referred and received a fibromyalgia diagnosis. After a while, I went back to the doctor because I didn't think the fibromyalgia diagnosis was correct. He referred me to another doctor and I had a muscle biopsy procedure. After months, the results came back that my body doesn't produce enough of the enzyme that transports fatty acids and I was diagnosed with carnitine palmitoyltransferase II (CPT II) deficiency. 

 

How did getting a diagnosis change your life?

It was life-changing and it was a turning point for me. I could stop seeking answers and move on to help others. When my doctor who was knowledgeable about and treating my mito passed away, my journey got complicated for years. Finding out there was a MitoAction support group for FAOD has been life-changing because I've met people who have the same diagnosis as me. Another turning point for me was getting an electric-assist bike because it was freeing and it helped me embrace my limits. Riding has helped me feel healthy and it makes me happy to be out in nature.

 

What has your experience been like as a grandparent?

My earliest experiences with grandchildren was exhausting. Being a grandma isn't much different than being a mom. I'm still a mom in every way you can imagine to my children, but as a grandma I've decided since I can't keep up with them, I'll be the grandma who makes things and teaches them to make things. I've been creative in thinking about what I can do that the kids will think is fun. We bake cookies, knit, sew, read, paint and write letters. We also go for walks and on bike rides. 

 

 

RESOURCES MENTIONED

International Network for Fatty Acid Oxidation Research and Management (INFORM) Conference 

https://give.mitoaction.org/event/2023-international-metabolic-conference/e451564

 

FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad 

https://www.instagram.com/rarediseasedad/

LinkedIn

https://www.linkedin.com/in/adam-johnson-8a1473125

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

h

ttps://www.linkedin.com/company/mitoaction