Once Upon A Gene

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Kids & Family
**Once Upon A Gene**

As a new parent of a child with a rare genetic syndrome, I was lost. There was no guide. There was no rulebook. This was not what I had imagined. As I navigated my way through this new reality, I realized something that should have been simple, but was not. A truth that had always been there, but that I had lost sight of for a time – I am not alone. And neither are you. These are the stories of my family, and of families like ours. These are the stories of how we have persevered, cried, bonded, and grown. These are the stories of children who have been told that they cannot, and that have proved the world wrong.

Latest Episodes:

Effisode - The Friendship Circle - Lilly and Ford Mar 09, 2021

Show notes

Intro music by Scott Holmes

The Importance of Early Intervention with Kindering CEO Lisa Greenwald Mar 04, 2021

Show notes

ONCE UPON A GENE - EPISODE 072

The Importance of Early Intervention with Kindering CEO Lisa Greenwald

Early intervention or birth to three are the vital services kids can receive in the beginning of their diagnosis journey. Dr. Lisa Greenwald is the CEO of Kindering, a licensed language and speech pathologist, holds a PHD in communication science and disorders and an executive certificate in non-profit leadership. She's answering all the questions you may have about early intervention and how to access it.

EPISODE HIGHLIGHTS

Can you share what Kindering is?

Kindering is a non-profit neurodevelopmental center and we offer a variety of programs, including birth to three early intervention which supports infants and toddlers who may have missed developmental milestones or who have a new diagnosis. About 85% of the brain's growth happens in the first three years of life, so early intervention is impactful and can make a big life-long difference. We will also provide a developmental evaluation for any family that has concerns or questions and a doctor's referral is not needed.

How did you get involved with Kindering and what drew you to the field?

I started out as a speech therapist working with adults and was interested in communication in general. In the efforts of making a difference early on and focusing on the brain's plasticity at a younger age, I worked my way down to birth to three age. My own child benefited from Kindering services and school special education services. Through his connection with Kindering and how he's benefited has been a key part of why I'm here, the perspective I have and why I want to be there for the kids and families that need us.

What roadblocks do you see in early intervention right now?

During the pandemic, people stopped going to well child visits, which is where developmental screening happens in our system of care. Families are challenged to realize they can benefit from services without the developmental screening.

How can people outside of the Seattle area use The Fathers Network and Sibshops as a resource?

The Washington State Fathers Network is a network of dads experiencing the journey of raising a child with special needs who can benefit from peer-to-peer networking and support. They have chapters that meet locally for different events and to share resources and information. Emily Holl runs the sibling support program and travels all over the world teaching communities how to offer sibshops. Sibshops specifically supports the siblings of children with disabilities and they're fun, lively workshops to network and have fun.

LINKS AND RESOURCES MENTIONED

The Rare Disease Truth #rarediseasetruth

https://twitter.com/hashtag/RareDiseaseTruth

Kindering

https://kindering.org/

Kindering tele-evaluation overview

https://kindering.org/portfolio-items/developmental-evaluations/

Washington State Fathers Network

https://fathersnetwork.org/

Sibshops

https://siblingsupport.org/sibshops/

Kindering Virtual Play Pass

https://kindering.org/portfolio-items/play-pass/

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/

Leave a voicemail

https://effieparks.com/speakpipe

Accelerating Clinical Research - Harsha Rajasimha, Founder and CEO of Jeeva Informatics Feb 25, 2021

Show notes

After losing his child to a rare congenital disease in 2012, Harsha Rajasimha applied his years of post-doctoral genomics data research experience at National Institutes of Health to develop a technology platform to accelerate clinical research. As the Founder and CEO of Jeeva Informatics and Founder and Chairman of the international humanitarian nonprofit Indo-US Organization for Rare Diseases (IndoUSrare), he's on a mission to bring fresh perspectives and innovation to get faster cures by engaging patients and participants in clinical research.

EPISODE HIGHLIGHTS

How did you become involved in the rare disease community?

I was a genomics data scientist, going through my day-to-day life at the National Institute of Health at the Cancer Institute and the Eye Institute. By 2010, I had published over 15 articles and was enjoying my job. In 2012 we had a child born with a rare congenital disease, Edward Syndrome and the baby wasn't viable at birth. That opened my eyes to the other side of the coin. Up to this point, research was all on the data side, but I wasn't as empathetic or aware of what happens to the patients and families going through rare genetic disease experiences. That led me to social entrepreneurship and I decided to apply my years of post-doctoral research experience to accelerating clinical research, faster diagnostics and therapies for rare diseases.

How did you know you wanted to do something more meaningful with your experience?

It took several months of grieving, soul searching and going over what went wrong. I did basic research about what happens in the rare disease community in the US and learned about NORD and Global Genes. What struck me was that I couldn't find any policy framework, definition of rare disease or organization to advocate for rare disease in India. It became clear that it was an obvious place to start. In February 2013 I visited the Bangalore India Bio Conference and met a number of key stakeholders there to pull together like-minded individuals and form a non-profit which became the Organization for Rare Diseases India. The diagnosis and treatments of rare diseases were happening in India, but there wasn't an organized or national effort happening.

What is the mission of the Organization for Rare Diseases India and how does it connect with bringing the culture of the rare disease community in India to the US?

How is Indo-US Organization for Rare Diseases connected to Jeeva Informatics?

What's the patient related role of Jeeva through the clinical trial process?

How can parents and small advocacy groups engage with you and connect in some way?

LINKS AND RESOURCES MENTIONED

ONCE UPON A GENE - EFFISODE 015 - Show Your Stripes

https://effieparks.com/podcast/effisode-015-show-your-stripes

Indo-US Organization for Rare Diseases

https://indousrare.org/

Jeeva Informatics

https://jeevatrials.com/

Indo-US Organization Patient Alliance

https://indousrare.org/program-info

Organization for Rare Diseases India

https://ordindia.in/

Find Clinical Trials

https://clinicaltrials.gov/

Global Genes

https://globalgenes.org/

NORD

https://rarediseases.org/

Once Upon A Gene TV on The Disorder Channel

https://www.thedisordercollection.com/

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/

Leave a voicemail

https://effieparks.com/speakpipe

Effisode - Show Your Stripes With Us This Rare Disease Day Feb 23, 2021

Show notes

Intro by Scott Holmes

Cure VCP With Rare Disease Trailblazer - Nathan Peck Feb 18, 2021

Show notes

Nathan Peck is a dadvocate living with an adult onset disease. He's also the Founder and CEO of Cure VCP Disease. Through Cure VCP Disease, Nathan and his wife Allison are committed to bringing together patients, caregivers, researchers, pharmaceutical companies and other non-profits to identify treatments and find a cure for Valosin-Containing Protein (VCP) Disease.

EPISODE HIGHLIGHTS

Tell us about your family and the rare disease that impacts you.

I'm a father of three boys and I'm married to my wife Allison. My mom came from a family of six siblings where here and three others had VCP Disease. About the time I left for college, my mom was having trouble reaching for things and was getting physically weaker. By the time my wife and I married, right after I graduated college, my mom could barely walk. The disease is much like ALS, but over a much longer time.

When did you discover the genetic mutation that was affecting your family?

My dad was going through my mom's medical records and we found a letter where she was diagnosed with a valosin containing protein mutation. I was later diagnosed and became interested in it and started learning more.

Tell us about the organization you started.

My oldest uncle created a website about what he was learning about himself, which was a resource for people to go to. We knew there were other families affected and I started thinking about data disappearing and succession planning. As an engineer, I've always been about building modular, sustainable processes and that was behind building Cure VCP Disease. There wasn't an organization representing the patients, there wasn't a patient registry and doctor's data wasn't aggregated. I'm not worried about or focused on saving myself- I'm doing the work for the patients for the future and my kids.

Have you connected with other parents living with the rare disease and has that helped you?

In the adult onset community, things are different, but we have a lot of common challenges. Everyone is willing to come together and share and you're part of the family. There's no prescription for this and everybody has to create their own path, but listening to others is so important. Putting yourself out there and meeting people can help you and may lead you to someone else who can help.

What is your most valuable resource as a dad?

The rare disease community. In getting involved with Global Genes, NORD and EveryLife Foundation, I've met so many awesome people and rare disease advocates which keeps me going.

LINKS AND RESOURCES MENTIONED

Rare Disease Day

https://www.rarediseaseday.org/

ONCE UPON A GENE - EPISODE 024 - Choosing Hope with Jill Hawkins

https://effieparks.com/podcast/008-choosing-hope-with-jill-hawkins

Cure VCP Disease

https://www.curevcp.org/

Global Genes

https://globalgenes.org/

NORD

https://rarediseases.org/

EveryLife Foundation

https://everylifefoundation.org/

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/

Leave a voicemail

https://effieparks.com/speakpipe

Ben's Friends A Rare Disease Social and Support Platform with Ben Munoz Feb 11, 2021

Show notes

Rare Disease Day is on Sunday, February 28th, 2021 and I'd love to know how you're celebrating and what Rare Disease Day means to you. Share a short voicemail message with me here!

Ben Munoz is the President and Co-Founder of Ben's Friends. The organization is dedicated to ensuring that patients with rare disease or chronic illness and their caregivers, family and friends have a safe and supportive place to connect with others. They're a network of patient communities for anyone affected by rare disease or chronic illness and they're growing every day.

EPISODE HIGHLIGHTS

Tell us about yourself and how you became part of the rare disease community.

My journey into the rare disease space was in 2006. At the time, I was a student in business school when I got a pain in the back of my head and rushed to the emergency room. After an emergency surgery, I learned I had a rare type of stroke at 29 years old. It was called an Arteriovenous Malformation (AVM). I was in ICU for a while after surgery and later was dealing with a lot of panic around the condition and navigation information, treatment, risks and the overwhelm of it all. I had resources online through support groups and mailing lists, which is when I learned of the possibility of connecting with others who had my condition, though it was limited. I began thinking of how to create a website where people could connect with others with similar conditions. I started with a Facebook community of others with AVM. With the success and growth of the group, I went on to creating an additional support group for Trigeminal Neuralgia (TN) which was also successful and then Ataxia. I noticed the trend that people were looking for support and that there were very few support opportunities. From that, the non-profit was founded and we have more than 40 communities to date, each focused on one rare disease.

What compelled you to seek out support so quickly?

Has there been a ripple effect that's resulted from being a Ben's Friend's contributor?

What is your favorite Ben's Friends story?

How do people join Ben's Friends and what if their disease isn't listed on your website?

LINKS AND RESOURCES MENTIONED

Ben's Friends

https://www.bensfriends.org/

Make a Donation to Ben’s Friends

https://www.bensfriends.org/paypal-donation/

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/

Leave a voicemail

https://effieparks.com/speakpipe

Effisode - A Child's Imagination Feb 09, 2021

Show notes

Intro music by Scott Holmes

Connecting the Dots From Patients to Researchers with Jason Colquitt - CEO of Across Healthcare Feb 04, 2021

Show notes

Jason Colquitt is the CEO of Across Healthcare and he has 20 years experience in the healthcare technology field where his work has caused a positive disruption within the healthcare industry. He was diagnosed with carnitine palmitoyltransferase type II deficiency (CPT-II), a rare mitochondrial disease. He believes he's been called to use his journey and technical background to help the rare disease community.

EPISODE HIGHLIGHTS

Can you share your background and a bot about what you do?

There's a Walt Whitman quote that talks about a journey and how you never understand that journey until looking backwards and that's what I do a lot-- look back and see how all the paths crossed, what I've been blessed to be able to do and how I can bless others. I've been in healthcare technology for 22 years and have done and seen a lot. Personally, about 18 years ago I realized something wasn't right after several hospitalizations. I had a great primary physician and my diagnostic journey was quick. I was sent to the University of Alabama at Birmingham which has an amazing rare disease group. They did a muscle biopsy and quickly determined that I had a rare mitochondrial disease called CPT-II. This part of my journey gives me the passion for what I do today.

What did you feel seeing another patient with your disease on Diagnosis?

I have gone through her same pains, though she had it more severe than I do. Going on a walk and locking up, being crippled and subsequently hospitalized, I could relate on a lot of levels. I had never seen anyone with my disease, so it was interesting and a chance to digest that I do have a rare disease and others do too.

What is Across Healthcare?

How does someone sign up for the Matrix?

What advancements have you seen in medical technology, data and what can be gathered from digitizing and organizing?

What is the cost for a rare disease group to join the platform?

Who are your rare disease heroes?

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

Across Healthcare

https://acrosshealthcare.com/

Cystic Fibrosis Foundation

https://www.cff.org/

Muscular Dystrophy Association

https://www.mda.org/

Diagnosis on Netflix

https://www.netflix.com/title/80201543

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/

Hippotherapy and Adaptive Riding with Little Bit Therapeutic Riding Center Jan 28, 2021

Show notes

I have asked Ford's therapists, Kelsie McGladrey and Christina Reyer to join me to discuss what therapies we should be doing with our kids and to talk in depth about hippotherapy- physical, occupational and speech therapy that utilizes the natural gait and movement of a horse to provide motor and sensory input. The benefits of hippotherapy include the physical benefits of strengthening muscles, preventing bone weakness and joint dislocation, improving balance and enhancing hand-eye coordination.

EPISODE HIGHLIGHTS

Is there a rider that is too medically complex for hippotherapy or are there adaptations that can be made?

Every kid and adult is evaluated for the program, looking at the needs and the type of therapy. We look at each case for precautions to find out whether hippotherapy is the best and safest option for reaching goals. Our goal is to find a therapy that works for each body and what's medically appropriate.

What is the ideal age for someone to start hippotherapy?

For hippotherapy, you have to be at least two years old.

What changes have you seen in Ford from when he started riding a year ago?

When we met Ford, he was a little over three years old and his legs were so tight that we could barely get him on a horse. It was hard for him to be on the horse and he wasn't able to sit up himself on or off the horse. Within the first few sessions, his legs relaxed so much and he needed less and less help. Because he was able to engage his core, relax his legs and relax his hips and sit up, we were able to start playing games and working on hand control and interaction. His confidence and his endurance has grown so much too.

How is the gait of the horse beneficial in hippotherapy?

The muscles we use is one part, but also the message the brain gets about what normal movement is when the horse is moving in three dimensions- forward and backward, side to side and rotating. The pelvis of the horse, rotated down has a similar movement to the gait we do when we're walking. A horse walks 1800-2000 steps in a 30 minute session, which is a ton of repetition that a person has to react to in a short amount of time.

How can the community support Little Bit?

We have a giving tree online of how people can donate or help. We always appreciate the support. We are volunteer-supported and need volunteers for horse care, barn care, in sessions, office support and cleaning.

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

CONNECT WITH LITTLE BIT

Little Bit Therapeutic Riding Center

https://www.littlebit.org/

Little Bit Volunteer Opportunities

https://www.littlebit.org/volunteer