Once Upon A Gene

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**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 - Caregiver Personal Trainer Wanted Dec 01, 2020

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Intro music by Scott Holmes

Turkey Soup for the Soul Nov 26, 2020

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The Once Upon a Gene Merch Shop is open for pre-orders through December 6th. Check out the new products added to the shop before it’s too late!

Based on the Chicken Soup for the Soul books, filled with feel-good stories that lift your spirit, Tyra Skibington and I present this special feature just in time for Thanksgiving-- Turkey Soup for the Soul. Grab the tissues and enjoy these heartwarming, uplifting stories of friendship, inclusion, community, perseverance and kindness.

Respite Rescue

We had a trip to Italy planned for our 20th wedding anniversary and all of the respite set up in plenty of time beforehand. Just a week before leaving, we were told our respite had to be cancelled. We were about to resign ourselves to cancelling our trip of a lifetime, as we had never asked friends to help us out this way. When one of our longest friends' husband, who had been recently laid off, hopped on his motorcycle and headed out to our place to watch Ben while we were away. He had never watched Ben for us. We were so overwhelmed and we were so grateful. And then our business partners who had also never cared for Ben stepped in and offered to keep him for one week as well. This was a huge deal for someone who has never dealt with a special needs child despite the fact that he was having a lot of seizures at the time. I remember sitting on a patio in Venice sipping on prosecco with tears in our eyes just thinking about how our friends stepped up in the most amazing way for us. It might not sound like much, but it is a big deal to have friends like that. It's just amazing.

Silver Linings of 2020

There is so much to be thankful for, but there are two significant things that quickly come to mind. In a bit of a bizarre way, I'm grateful for the opportunity to slow down and reset. Although the global pandemic of 2020 has caused more harm than good, more loss than gain and more pain than joy, it has also caused me to take stock of what is important to me. In a sense, it has helped me identify the difference between things that are distracting and things that are meaningful. I'm also grateful for a career in a field that is considered essential that has taken precautions to protect the health of individuals while also keeping me employed. I'm thankful that, while many things have been stressful, I have not had to worry about my income, allowing me to help others in my community.

A Poem for Jared

These tears that I hide inside, I hide for you.

The smiles that I smile, I smile for you.

The walls that confine you try to beat you down.

But that isn't your style,

And that makes me proud.

From the beginning, you've been joy.

The years haven't changed you a bit, my boy.

You have a wonder in your eyes, the world in your heart.

Nothing can stop you.

{continue reading on our website}

LINKS AND RESOURCES MENTIONED

Once Upon a Gene Channel with The Disorder Channel

https://www.thedisordercollection.com/

Once Upon a Gene Merch Shop

https://effieparks.com/merchshop

Mind Over Mat

https://www.mindovermat.ca/

EPISODE 040 - Physical and Emotional Well-Being for the Caregiver with Tyra Skibington

https://effieparks.com/podcast/episode-40-tyra-skibington

Two Disabled Dudes Podcast

https://twodisableddudes.com/

Rare Disease Dad - DadVocate

https://rarediseasedad.com/

SLC13A5 - TESS Research Foundation with Kim Nye Nov 19, 2020

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ONCE UPON A GENE - EPISODE 057

SLC13A5 - TESS Research Foundation with Kim Nye

Kim Nye is the mother of four children and the President and Co-Founder of the TESS Research Foundation, a nonprofit organization on a mission to find better treatment options and a cure for SLC13A5— a rare disease that affects two of her kids.

EPISODE HIGHLIGHTS

Tell us about your children with SLC13A5 and about where your journey began.

We were living in England, in graduate school and we were having a baby girl. I had a typical pregnancy, was induced at 41 weeks and had a beautiful, perfect baby girl named Tessa. At one day old, we noticed she was having trouble feeding and turned blue when she had her first bath. At some point it became apparent that something was wrong and she was taken to intensive care, where our journey began. The next ten years was a series of misdiagnosis and inaccurate diagnosis. It was at one point she was thought to have had a stroke resulting from seizures. Her seizures were under control within a few weeks after being in NICU. She was on seizure medication that seemed to be working and all of her tests looked good. At her next appointment, she was diagnosed with benign idiopathic neonatal seizures which meant they didn't know why she was having them. At six months old when it was suspected she no longer needed to be on her seizure medication, she had a seizure and we weren't able to control them again over fifteen and a half years. By the time she was in preschool, she was diagnosed with catastrophic epilepsy and she spent a lot of time in the hospital. Her seizures were so severe, no one was confident she'd live to kindergarten. Her development was also noticeably off and still doesn't speak more than a few words to this day. In 2013, I gave birth to my fourth child, a little boy named Colton. Just like his sisters, he was healthy when he was born and passed all his initial baby tests. When he was about 12 hours old, I started noticing his trouble with feeding, his color wasn't quite right and then he started having seizures.

Does it get harder to manage everything the older your kids get?

My kids are now 16, 13, 11 and 7 year old. Having a tiny baby with seizures is so stressful that there are things that actually get easier as they get older. You can better recognize seizures and you find a therapy and treatment rhythm that works for your family. What's much harder is that kids get bigger and not as cute to the general population. It was easier when I had a cute little preschooler and it's harder to have a support team when you have a young woman. And at some point, you shift from a worry about hitting milestones to what will happen to your child when you die and how much will fall on my two healthy children to provide their sibling's care.

What do you do for Lily and Maggie to make them feel special?

If I can pull off a normal childhood for them, that is a success. Each summer we have a Moggie and a Mily week that's not anything extravagant, but time for just Lily or Maggie and I to do something they want to do. We try to carve out small moments anytime we can.

How do you keep your marriage from being transactional?

We weren't good at it in the beginning. We didn't make time for dates, I dropped out of graduate school and my husband was growing his career. We fell into stereotypical roles and didn't make much time for each other because there was so much going on. Now, we make more of an effort to do things together.

How do Maggie and Lily deal with the day-to-day having two siblings with a rare disease?

They are really lucky to have one another. It's nice for them to have someone going through the same experience they are having two siblings with significant needs. They are lovely with Tessa and Colton and the four of them are just siblings. They have a strong sense of empathy and are really good reading people's needs and emotions because they have two siblings that require that.

The TESS Research Foundation has been awarded the CZI Rare As One Initiative. What's going on right now with the fund?

We feel so lucky to be a CZI Rare As One Grantee Organization. It's really an honor. It's a capacity building grant and the idea is to help us build internal infrastructure so we're more sustainable. In addition to funding, we also get training that helps us run the nonprofit. We're learning a lot about growing our research and family network, having good governance and treating the nonprofit as a professional organization. We started out asking friends and family for donations and we've grown through newly diagnosed families reaching out to their networks and we've applied for other grants and funding. We raise money to create model systems because SLC13A5 was a newly discovered disorder and nothing was in place when we started.

LINKS AND RESOURCES MENTIONED

TESS Research Foundation

https://www.tessresearch.org/

Sibshops

https://www.siblingsupport.org/about-sibshops

Undiagnosed Disease Program

https://www.genome.gov/Current-NHGRI-Clinical-Studies/Undiagnosed-Diseases-Program-UDN

CZI Rare As One

https://chanzuckerberg.com/science/programs-resources/rare-as-one/

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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/

Effisode - Out with the Ick Nov 17, 2020

Show notes

Intro music by Scott Holmes

Rare Leader - Patricia Weltin, CEO, Beyond the Diagnosis Nov 12, 2020

Show notes

ONCE UPON A GENE - EPISODE 056

Rare Leader - Patricia Weltin, CEO, Beyond the Diagnosis

Patricia Weltin shares her organization, Beyond the Diagnosis, an art exhibit with a focus on portraits of rare disease. Their goal is to put a face to all rare diseases through a traveling exhibit around the globe.

EPISODE HIGHLIGHTS

Can you tell us about your work and about Beyond the Diagnosis?

I started working with the Rhode Island Rare Disease Foundation and we had a rare disease day event once per year. Senator Whitehouse reached out to work on a piece of legislation called The Expert Act, to allow the FDA to bring in outside experts. We worked on it, Obama signed it into law and I began to think it was a great business model having an umbrella organization working by state. We moved into Massachusetts, Florida, Pennsylvania and New Jersey. We started the exhibit and everything exploded.

Both your daughters have a rare disease?

At the time I started working in this space, I thought my youngest daughter didn't have any disease and that my oldest had a different disease called hypomelanosis of ito. She had just had spinal cord surgery and was doing well, back playing tennis. When my oldest turned 18, she deteriorated. She went from being an athlete to not being able to walk, her teeth started falling out and she got cysts in her mouth. My kids have been hypermobile their whole life which I didn't think much of. My younger daughter could dislocate her shoulder and put her head on her shoulder to rest it. Looking back I realize just how hypermobile they both were. The pediatric radiologist told me my oldest daughter had chiari malformation. I started looking at both chiari malformation and ehlers-danlos syndrome and it was everything my daughter was going through. I had my youngest daughter do the beighton scale of mobility and she got a 9 out of 9. I searched for treatments and ways to heal my daughters and discovered supplements that changed their lives greatly. They're never going to be athletes again, but they're not in wheelchairs.

Tell us about the art exhibit.

It's my passion and an accident that exceeded all our expectations. The first exhibit was 17 portraits of all my friend's kids. Brown University put it in their newspaper and The Rhode Island of Medicine picked it up. Then we did Harvard and had 35 portraits and they put out a press release. We were picked up by Boston Globe Boston Magazine and then CBS Sunday Morning called. There's magic behind the families and the artists that are part of this exhibit. When you see the different art styles, it's really magical. We have artists from all over the world, and now we also have patients from all over the world. For Rare Disease Day, we're doing a virtual museum tour and none of the portraits have been unveiled yet. These will be all portraits that no one has seen and it's going to be amazing.

What is it about the portraits that has touched people and swept the world into connecting with this community?

I think when we talk about rare diseases, their eyes glaze over and it's scary for people to think about rare disease if they're not in the community. This art exhibit has humanized patients, they see children and the work is beautiful. I think they're able to connect with a child instead of a disease. And that was the whole point.

LINKS AND RESOURCES MENTIONED

Beyond the Diagnosis

https://www.beyondthediagnosis.org/

Upcoming Exhibitions

https://www.beyondthediagnosis.org/currentupcoming

Beyond the Diagnosis on Facebook

https://www.facebook.com/BeyondTheDx/

The Disorder Channel

https://www.thedisordercollection.com/

Rare Disease Day

https://www.rarediseaseday.org/

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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/

One Woman’s Kindness Sparks a Neighborhood To Do the Same Nov 05, 2020

Show notes

ONCE UPON A GENE - EPISODE 055

One Woman’s Kindness Sparks a Neighborhood To Do the Same

We live in Mercer Island, a beautiful city across the bridge from Seattle. It's safe, quiet and clean and it's only missing an inclusive playground. I don't know many people here. I met a mom through birth to three, two other moms who emailed me after reading about my podcast in the Mercer Island Reporter and my two neighbors.

Casey, the kids and I recently went out on a family walk before the Seahawks game on a perfect fall day. We were walking through the park when I saw a woman walking on the path in the opposite direction, she saw Ford and she had the biggest smile on her face when she greeted him. She brought her dog over and asked Ford if he wanted to pet him, assuring him when he seemed afraid. She told us about The Friendship Circle and mentioned that her kids volunteered there. The Friendship Circle is a community center where kids can go and play with other kids. We've never had this experience with strangers and I decided to post on the Nextdoor app about the exchange. I wrote:

I have a 4 year old son who was born with a rare disease called CTNNB1. His awesome, red wheelchair is a source of freedom and independence. If you ever see him around town, he's usually squealing with delight, as he loves exploring with the wind on his face. As you can probably imagine, this has been such a complex and difficult experience. Aside from all the fear, medical issues and burying my expectations of what I thought motherhood would be, one of the most difficult parts of this journey is the social isolation aspect. I've found so many of my people through starting a podcast, but one of my social aspects involves not just me and my family, but my beautiful son directly. Kids and adults are usually extremely awkward and stare. I say hello to everyone we pass, but especially when a child or adult hover and look upon this sweet child. I tell my son to wave hello. And 95% of the time, we don't get a response. It's so constant that I don't get as heartbroken about these situations as I did in the beginning. Today at Mercerdale Park, a woman stopped in her tracks, gathered her three boys to extend an excited and genuine hello to my son. They engaged with him like he was just like every other little boy at the park. She brought her dog over to him so he could give it a pat. Nobody's ever done that- ever. It was one of the most glorious, human moments we've experienced as a family out and about in four years. Thank you so much to that woman and to her boys. I wish more parents were raising their kids this way, to see disability as a diversity. I'll never forget it. I ask from the bottom of my mama heart that there be conversations about kids like mine in your home. Not just when you see us at the grocery store, but often, as often as you educate them about other types of diversity. And if you see the happiest, blondest little 4 year old wheeling around downtown, don't be afraid to say hello.

I didn't have any expectations in writing this, but was hoping the woman we met in the park would read it, connect and we could get her name and thank her. Instead, I got 447 likes, 60 really thoughtful responses, 37 private messages and everyone showed up. I got so many invited for Ford to come play with their kids. I got so many loving notes from strangers. A community I didn't feel a part of circled around me from a simple post. I'm so thankful. I learned from this post that people are good, they just don't know what to do, so they do nothing.

LINKS AND RESOURCES MENTIONED

The Friendship Circle of Washington

https://www.friendshipcirclewa.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/

Effisode - Friendship, Inclusion, and Tough Conversations Nov 03, 2020

Show notes

Intro music by Scott Holmes

RARE - A Brand With A Purpose With Theresa Thomas and Kristine Hoestermann Oct 29, 2020

Show notes

ONCE UPON A GENE - EPISODE 054

RARE. — A Brand with a Purpose: Theresa Thomas and Kristine Hoestermann

Theresa Thomas and Kristine Hoestermann nurtured their own outlets of blogging and art and found each other online through the power of a hashtag. They fueled the spark of when they met into a glowing fire as they continue to pour their energy into RARE.— a brand with a purpose and also their podcast, Because We Are Strong.

EPISODE HIGHLIGHTS

How did you come to be part of the rare community?

Theresa: I became a part of the rare disease community when my son was born with Beckwith-Wiedemann syndrome, an overgrowth disorder with an increased risk of developing cancer. One side of his body is bigger, he has a large tongue, his organs are bigger and he was almost 12 pounds when he was born. My son Owen is screened for cancer every three months along with abdominal ultrasounds and blood work. He's had one surgery on his tongue and has been hospitalized many times for respiratory issues. Otherwise, he's a fierce two year old in a five year old's body.

Kristine: I was 27 when the onset of my symptoms started. I knew something was wrong, some people didn't believe me, it was hard to get a clear diagnosis and it took a toll on my mental health. Currently, I have 42 running diagnoses. I got sicker and sicker and felt more and more isolated. It never occurred to me that I could wake up sick and never get better.

How did the two of you find one another and connect?

Theresa: I started my blog March 2019 and I started searching for Beckwith Wiedemann families and other rare disease resources. I was searching using hashtags and came across Christine's Instagram, RARE. I reached out to her to ask if I could share her website and merchandise and we started talking everyday talking about awareness merchandise and soon realized we had the same mission.

Tell us about how RARE. was started and what it is.

Kristine: Because I didn't yet have a name for my condition, I never felt like I could go into a support group because I didn't have a diagnosis and didn't know where I belonged. I felt alone and started creating things to help me express myself so that I felt seen.

Theresa: RARE. is an apparel brand geared towards raising awareness for rare disease, chronic illness and invisible struggles. It's a way of acknowledging that everyone is struggling with something. It's not always a rare disease or chronic illness that's invisible. It's more than clothes, it's about starting a conversation.

What changed for you personally after you connected?

Theresa: I'm a woman of faith and I felt God gave me this gift to unwrap and run with. At the time, I wasn't sure what was going to happen with my career. I felt there was no way this was a fluke and I found comfort in knowing I could relate to someone else and I felt renewed.

Kristine: I had a drive, but felt I wasn't going to do it alone. There were people helping out, but nothing felt right. When Theresa and I collided, I knew it was what we were suppose to do and we've been through so much in such a short period of time and we just figure it out each time. We balance each other well in business.

Tell us about your podcast, Because We Are Strong.

Theresa: Because We Are Strong was initially a Facebook live session I did with Beckwith-Wiedemann families who I was connected with. I recently decided with Kristine to make these sessions into a podcast and make it a platform for everyone under RARE.

LINKS AND RESOURCES MENTIONED

Because We Are Strong Podcast

https://findyourrare.com/pages/downloadables

RARE. Website

https://findyourrare.com/

Living Larger Blog

https://largerthanbws.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/

Living With Chronic Pain - International Pain Foundation President Barby Ingle Oct 22, 2020

Show notes

ONCE UPON A GENE - EPISODE 053

Living with Chronic Pain - International Pain Foundation President Barby Ingle

Barby Ingle is a fierce advocate, the President of the International Pain Foundation, a chronic pain educator and advocate, motivational speaker, Amazon best-selling author and reality tv personality. She's received more than 20 accolades for her work in the chronic pain community.

EPISODE HIGHLIGHTS

Where did your journey begin?

When I was coaching, I was living all of my dreams. I got endometriosis, went through the treatment process and had a full hysterectomy. Just before my 30th birthday, I was hit by a van and injured, started physical therapy and discovered I had a rare disease triggered by the accident- a rare neuro-autoimmune disease called reflex sympathetic dystrophy (RSD). At first it was regional, but several surgeries complicated the condition and I was in a wheelchair for almost seven years.

Was there ever a point in your diagnosis journey where you lost hope?

Even at the lowest, there was hope. The worst moment was when I had a rib removed. The surgeon made a mistake, leaving two bone spurs going into my right lung and wrapped around a nerve bundle in my shoulder. I started having lung collapses, which was disregarded as something that sometimes happens. I didn't know he was wrong and to push further. I experienced a lung collapse that led to an emergency surgery and my dad was there giving me support and hope.

What organization did your family help to launch that you're a part of now?

Every year, my dad had us do a family project and we would decide at Thanksgiving what it was going to be. Sometimes it would be Christmas caroling at retirement homes or serving food to the homeless. In 2006, we lost my step-sister to the same condition I have, so when Thanksgiving came around my dad led us to start a non-profit. At that time, I was wheelchair bound, bed bound and wasn't able to do much with it, but I was the face of the campaign, The Power of Pain. After the first year, the board decided we needed to broaden the scope to work with all chronic pain diseases. In 2010 I joined the executive board and in 2012 I was elected the President of the foundation. We have expanded internationally to 14 countries with the help of people leading projects to make their communities better.

What are you most excited about right now that's happening with the International Pain Foundation?

November, or "Nerve-mber" is a big month for us with spotlights on conditions, sources of facts and information and the International Pain Summit, which will be held virtually this year. I'll be speaking at the summit this year with my husband on empowerment for patients and caregivers with tips and tools for everyday life.

LINKS AND RESOURCES MENTIONED

Teal Pumpkin project

https://www.foodallergy.org/our-initiatives/awareness-campaigns/living-teal/teal-pumpkin-project

International Pain Foundation

https://internationalpain.org/

Register for the International Pain Summit 2020

https://internationalpain.org/ipain-summit-2020/

iPain Living Magazine

https://internationalpain.org/ipain-living-magazine/

Books by Barby

http://barbyingle.com/books/

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