Once Upon A Gene

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

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

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

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

CONNECT WITH EFFIE PARKS

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

The Disorder Channel Website

Beginners Guide to Rare Disease - Anecdotes For Those Early Days of Diagnosis with Daniel DeFabio Jan 14, 2021

Show notes

Daniel DeFabio and I are having a parent-to-parent discussion and bringing you guidance if you are a newly diagnosed family. We'll give you insight into our journeys, things that helped us along the way and ways we learned to cope and find hope. If you're a beginner and new in the club no one wants to be in, start here- this episode is for you.

EPISODE HIGHLIGHTS

On diagnosis day, what are the important things to notice and what life lines should be sought out right away?

Realize that no matter how bad the diagnosis is, you're going to live it and live through it and there's no way of escaping it. The only way out is through. It helps to find other people and seek community once you have a diagnosis and they will have experience and advice to help you.

Did you feel like you needed to seek out other families and dads?

Rather quickly, I put Lucas' story out there in the world to find others. There was a Yahoo group for menkes families that is now a Facebook group. I turned to this group like a life raft for a source of hope, comfort and information. As soon as I found the population facing the same disease as my son, I knew there would be answers, but those answers weren't predictive. Don't stop looking until you find the answers you're looking for. The bond and support you will receive from others with a similar experience is like you may not find elsewhere.

What opened your eyes to not comparing, letting go of expectations and forging ahead?

It was clear to me that there was no choice. You take care of your kid, even when you're dealt a life-altering and unexpected thing. It required a different approach, but it was still a parent approach of providing what my child needed. The stages of grief apply to diagnosis, not just death. You let go of the fictional character of your child you thought you were going to have. You need to go through the stages, so read about them, prepare for what will happen and know they won't happen once or in order.

If you are new to the club and have questions, we're happy to help guide you and share resources to help you.

LINKS AND RESOURCES MENTIONED

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

Menkes' Families Facebook Group

https://www.facebook.com/groups/180082535351472/

TUNE INTO THE ONCE UPON A GENE PODCAST

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

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

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

CONNECT WITH EFFIE PARKS

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

EPISODE 048 - What is Chronically Surviving with Marcelle Longlade

Effisode - Never Underestimate the Determination of Your Child Jan 12, 2021

Show notes

Intro music by Scott Holmes

Seth Rotberg Founder of Our Odyssey and His Mental Health Surrounding a Huntington’s Disease Diagnosis Jan 07, 2021

Show notes

Our Odyssey is an organization that supports young adults living with rare disease and chronic illness. The founder of Our Odyssey, Seth Rotberg, is passionately driven by his mother's battle with a rare genetic disease called Huntington's Disease (HD). At the age of 20, he also tested positive for the disease. He dedicates his life to helping others on their rare disease journey and chronic illness.

EPISODE HIGHLIGHTS

What is your connection to the rare disease world?

My story started at age 15 when my mom was diagnosed with Huntington's Disease (HD), a rare neurological disease that slowly deteriorates a person's physical and cognitive abilities for which there's no cure. I was fortunate to have a good support system at the time, but no one understood what it meant to be a young adult with a family member impacted by a rare disease. I didn't realize initially that I could also be a carrier of the disease and later found out in college that I was at risk. It impacted me mentally wondering if I had it and I finally got tested so I could plan for my future. I went through genetic testing and tested positive for Huntington's Disease which means I'm not technically diagnosed or currently living with the disease, I'm a gene carrier. Knowing what Huntington's Disease did to my mom, I'm preparing for that happening one day.

How fast did your mom's disease progress and were you at all involved in her daily care?

When you got your test results back that you were in fact a carrier for Huntington's Disease, what were your next steps?

Did you feel freedom when you shared your test results with friends and family?

How did you arrive to the point of starting Our Odyssey?

What's your most profound accomplishment?

LINKS AND RESOURCES MENTIONED

https://effieparks.com/podcast/episode-48-chronically-surviving

EPISODE 036 - Anna Laurent on Alagille Syndrome and Her Road to Advocacy

https://effieparks.com/podcast/episode-36-anna-laurent-alagille-syndrome

Our Odyssey

https://ourodyssey.org/

TEDx Navigating Genetic Disease Testing: A Personal Story

https://www.ted.com/talks/seth_rotberg_navigating_genetic_disease_testing_a_personal_story

TUNE INTO THE ONCE UPON A GENE PODCAST

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

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

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

CONNECT WITH EFFIE PARKS

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

The Life of an Angel Diagnosed with Blau Syndrome with Cheryl-Lynn Townsin Dec 31, 2020

Show notes

Cheryl-Lynn Townsin is the mom to Lexi and Felix and the Director of the film, Me, My Sister and Blau. I fell in love with this family when I saw their film and their story has really stuck with me. Cheryl is joining me to share memories of Lexi and the grief that remains from their loss. Lexi's older brother Felix is changing the world and he's incredible. This family fights every day to continue Lexi's legacy of love and they're determined to find a cure for those affected by Blau Syndrome.

EPISODE HIGHLIGHTS

Can you share a bit about Lexi and her diagnosis?

Lexi was born in December 2012. She had a few health concerns when she was born and was in NICU for awhile. After two weeks, she was as strong and amazing as ever. When Lexi was about 6 months old when she got pneumonia and was hospitalized. She pulled through it, but then started getting rashes. We went to an immunologist, but we weren't able to identify a food or environmental sensitivity. Just before her first birthday, Lexi was seen by a rheumatologist and we were told that she had Juvenile Idiopathic Arthritis. Six months later we saw a dermatologist, she ran tests and we got a Blau Syndrome diagnosis one month later.

Did you seek out a Blau Syndrome community or was it a process?

When we thought Lexi had Juvenile Idiopathic Arthritis, we thought that was a small community, but we moved on from that to another level of isolation when Lexi was diagnosed with Blau Syndrome. I found a community support group and connected with them.

What was the prognosis of Blau Syndrome that you were given?

What ultimately happened to Lexi when she passed?

Can you share with us what Felix is doing to raise awareness for Blau Syndrome?

What is the status of the Blau Syndrome research to date?

LINKS AND RESOURCES MENTIONED

The Disorder Channel

The Boy With a Thorn in His Joints

https://www.nytimes.com/2013/02/03/magazine/the-boy-with-a-thorn-in-his-joints.html

Global Genes

https://globalgenes.org/

Cure Blau Syndrome Foundation

https://www.curebs.com/

Me, My Sister and Blau

https://www.rarediseasefilmfestival.com/work#/me-my-sister-and-blau/

TUNE INTO THE ONCE UPON A GENE PODCAST

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

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

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

CONNECT WITH EFFIE PARKS

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

Baking with Dana: Raspberry Thumbprint Cookies

Effisode - The Magic of Christmas Dec 29, 2020

Show notes

Music provided by Scott Holmes

Cookies4Cures with Dana Perella Dec 24, 2020

Show notes

Dana Perella has raised almost $200,000 to help fund research for rare pediatric diseases through Cookies4Cures.

EPISODE HIGHLIGHTS

Tell me where you're from and how old you are.

I live in Boulder, Colorado and I'm 10 years old.

What is Cookies4Cures and why did you start it?

Cookies4Cures is my nonprofit that raises money to fund research in rare pediatric disease. It started with my friend Mila that I met in speech therapy. When I was 7, I found out she was diagnosed with a rare, fatal disease called Batten. I needed to help her, so I started Cookies4Mila to help find a cure for her form of Batten. I sold cookies to raise $1000 in three months, then I went viral and had $56,000 by the end of the year.

Were you already a baker?

I first had the idea of having a lemonade stand, but didn't want to be limited to only selling in the summer. I love cookies, everyone loves cookies, you can eat them anytime, but I had never baked anything before. It was a new experience for me and was really fun.

Tell me what the money you've raised so far has done.

I've raised over $140,000 for five different rare pediatric diseases. I've raised money for Batten, PANS (pediatric acute-onset neuropsychiatric syndrome), SMA (spinal muscular atrophy), HAE (hereditary angioedema) and MCTO (multicentric carpotarsal osteolysis).

What have you learned about yourself that you're proud of?

I've discovered I can make a difference. Not only adults can change the world- kids can too.

What's your favorite Cookies4Cures moment?

The moment I knew I had funded a treatment for Mila's Batten. That felt amazing because I helped my friend have a longer life.

What's next for you?

It's been hard to do cookie pop-ups because of covid, but Sophie's family owns a restaurant and we've been selling cookies from the restaurant. I'm looking forward to dressing up as an elf for the holidays and delivering cookies around Boulder.

LINKS AND RESOURCES MENTIONED

Global Genes

https://globalgenes.org/

Travere

https://travere.com/

HAEA

https://www.haea.org/

https://youtu.be/V_j-iVKiC7c

CONNECT WITH COOKIES4CURES

Cookies4Cures

https://www.cookies4cures.com/

Email Cookies4Cures

info@cookies4cures.com

Cookies4Cures on Facebook

https://www.facebook.com/Cookies4Cures

Cookies4Cures on Instagram

https://www.instagram.com/cookies4cures_kids/

Cookies4Cures on Twitter

https://twitter.com/cookies4cures

TUNE INTO THE ONCE UPON A GENE PODCAST

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

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

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

CONNECT WITH EFFIE PARKS

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

Once Upon a Gene Channel with The Disorder Channel

The Glass Child - Being a Sibling to My Rare Disease Sisters with Madison McLaughlin Dec 17, 2020

Show notes

As a young girl, Madison McLaughlin made her way to LA to pursue acting and she's held roles in Chicago PD, Supernatural and Arrow. But she's also a rare disease super hero and celebrity in our community- the rare disease community. Madison's three younger sisters have been diagnosed with hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL).

EPISODE HIGHLIGHTS

Can you share a bit about your sisters?

I'm the oldest of four girls. Marissa is 18, Mallory is 16 and Mahrynn is 14. Marissa and Mahrynn have an ultra-rare disease that affects less than 25 people in the world called HBSL. Mallory is also a carrier of this disease. Mallory has never had any symptoms and is typically developing. Marissa and Mahrynn use mobility assistance such as walkers and wheelchairs, but they're not affected cognitively.

When considering yourself a caregiver, how does it affect you in realizing that as your role?

What have people done for you to make you feel special?

When did you start therapy individually and as a family?

What boundaries have you set for yourself?

Are you a part of groups with siblings like you and is there a common thread among siblings?

LINKS AND RESOURCES MENTIONED

Once Upon a Gene with The Disorder Channel on YouTube

https://www.youtube.com/watch?v=68ZUSyqdeZo&t=4s

Nikki McIntosh, Rare Mamas

https://raremamas.com/

MacPac Foundation

https://www.macpacfoundation.org/

TUNE INTO THE ONCE UPON A GENE PODCAST

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

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

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

CONNECT WITH EFFIE PARKS

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

Once Upon a Gene Channel with The Disorder Channel

Effisode - Family Dinner Dec 15, 2020

Show notes

Music provided by Scott Holmes

Pediatric Occupational Therapy with OT4Lyfe - Sarah Putt Dec 10, 2020

Show notes

Sarah Putt is the host of the OT4Lyfe Podcast, where she interviews thought leaders in the occupational therapy community. Sarah is discussing early intervention and answering questions about her profession and how it benefits families like ours.

EPISODE HIGHLIGHTS

Tell me about why you started your podcast, OT4Lyfe.

Occupational therapy is my life and OT is the "why" of life or "lyfe". My show is all about occupational therapy and I bring on occupational therapy practitioners, students and other people affiliated with the practice area to discuss anything and everything occupational therapy. I love podcasting to talk about occupational therapy, but also promoting and advocating for the profession because a lot of people don't know what we do.

What does occupational therapy entail?

It's a broad field and occupational therapists can work in different practices areas with different focuses. Occupation is defined as how you occupy your time, so anything you do in a day such as self care or leisure activities. We are the experts on occupation, studying what the meaning and purpose of occupation is in people's lives. We have a very broad lens of who we work with and the type of work we do. Someone coming to us generally has a diagnosis, disability, injury or age-related difficulties that interfere with activities. I work in early intervention with kids from birth to three years old and focus on hitting developmental milestones and the family dynamic of parent education, including sensory integration, sleep, feeding, fine and gross motor skills.

What should a parent do if they don't think a therapist is the best fit?

What questions do parents and caregivers need ask in order to maximize their child's care plan?

If parents and caregivers can't follow through with OT homework, how does that affect the overall therapy goals?

What advice do you have for parents who are new to occupational therapy?

LINKS AND RESOURCES MENTIONED