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 List Nov 15, 2022

Show notes

Intro music by Scott Holmes

A Mom's Advocacy For Her Son Who Has Hemophilia B Led to Her Own Diagnosis - With Stormy Johnson Nov 10, 2022

Show notes

ONCE UPON A GENE - EPISODE 160

A Mom's Advocacy For Her Son Who Has Hemophilia B Led to Her Own Diagnosis - With Stormy Johnson

Stormy Johnson has a son diagnosed with hemophilia. She was told she was just a carrier for the disorder. This assumption, born from the fact that mostly men are diagnosed with hemophilia, meant she didn't have answers for symptoms that were plaguing her. Other hemophilia patients encouraged her to dig deeper, which led to an even tougher road of being seen by medical professionals. Stormy is storming the castle to let everyone know that women are in fact more than carriers- she's an advocate doing great work for women with bleeding disorders.

EPISODE HIGHLIGHTS

Can you share your son's diagnosis journey?

When I was young, I was aware of my male cousins with something wrong with their blood, but that's all I knew. When my son was three, he had his tonsils removed and he had complications in recovery that led to emergency surgery. Initially doctors thought maybe he had a bleeding disorder, but he was released after a few days. A couple months later, he had blood in his urine that I attributed to a kidney blockage he had recently had. At a pediatrician's appointment, she recalled a patient with a bleeding disorder and she thought it was a good idea to check into things further. After my son was diagnosed, I realized what my cousins had was also hemophilia and that it affected others in my family as well- male and female.

How did you find out you also had Hemophilia B?

When I would lose molars as a kid, I would bleed a lot. I also bruised easily. I had a laparoscopy when I was 18, which required a blood transfusion. There were always signs, but it was never questioned. After my son was diagnosed, I had testing done and took the results to the treatment center my son went to and I was referred. I was 47 when I got diagnosed.

What has motivated you to become an advocate?

I found my voice at just the right time. I was terrified of speaking or talking to doctors, but I've learned so much through my experiences. Advocating is from my heart and it's not about me. Everything I do is for the community and it's been an amazing journey for me and my family.

What is your advice for women or even girls who may be listening and need tips for advocating for themselves and their healthcare concerns?

It's very important to keep good notes and record everything. Speak to parents, siblings and family members who can shed light on childhood health matters or other family health history. Most importantly, don't give up. Fire your doctor and find another doctor. There's always someone out there who will fight with you, you just have to find them.

LINKS & RESOURCES MENTIONED

Portraits of Progress

https://www.portraitsofprogress.com/

Bad Blood

https://www.imdb.com/title/tt1773294/

BloodStream Media

https://www.bloodstreammedia.com/

Remember the Girls

https://rememberthegirls.org/

Sisterhood for Women Who Bleed on Facebook Group

https://m.facebook.com/groups/235001807617544

Sisterhood for Women Who Bleed on Instagram

https://www.instagram.com/vwd_hemo_sisterhood/

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/

Interested in advertising on Once Upon a Gene? Email advertising@bloodstreammedia.com for more information!

Social Security Disability Revealed - Why It's So Hard to Access Benefits and What You Can Do About It with Spencer Bishins Nov 03, 2022

Show notes

ONCE UPON A GENE - EPISODE 159

Social Security Disability Revealed - Why It's So Hard to Access Benefits and What You Can Do About It with Spencer Bishins

Spencer Bishins has a Master's degree in economics and a law degree, but after working for SSA for more than 10 years, he shifted his expertise to demystifying the complicated disability system. His first book, Social Security Disability Revealed: Why It's So Hard to Access Benefits and What You Can Do About It, explores the obstacles disability claimants face as they navigate the benefits system.

EPISODE HIGHLIGHTS

Can you tell us about your career and what motivated you to write your book?

After law school, I accepted a job with the Social Security Administration. The SSA system sometimes feels like a computer is deciding a person's case. That's partly because the rules can be very strict and partly because they're monitoring how many cases are being paid to over a million people that file for social security disability benefits every year. Feeling like a claimant is a statistic, moving through an in-personal process where their story is lost can be frustrating. The purpose of the book is to help people understand the process better and know how to deal with situations that may arise during the process.

What is the difference between SSI and SSDI?

There are two social security disability programs. Social security tax paid through payroll funds the retirement program, but it also funds the SSDI program. SSDI is only for adults, but adults can also apply for the SSI program if they don't qualify for SSDI benefits. SSI payout is a lot lower payout and a lot stricter. Kids can also receive SSI based on the standard of impairment and functioning, as referenced in the ruling SSR 09-2P to SSR 09-8P. If a child has been approved for SSI, as they approach adulthood, you'll be notified that the child will undergo an evaluation to determine if they're able to work and they may lose their benefits. If a parent has worked and earned SSDI benefits, their adult child can file a claim on their parent's earning record through a program called Disabled Adult Child (DAC) claim. The wage-earner has to be deceased, retired or disabled and in some way a social security recipient themselves.

For parents who care for their children full time and can no longer work, how can they benefit from social security disability?

If you've worked long enough to earn social security credits, you may have SSDI coverage. Filing a disability claim if you've paid into the system is called an entitlement and you're entitled to receive benefits if you qualify. You can talk to a social security representative if you're considering filing a claim for yourself as a parent. If you're approved for SSDI, you can also get access to Medicare.

CONNECT WITH SPENCER

Facebook

https://www.facebook.com/BishinsPublishing/

Instagram

https://www.instagram.com/bishinspublishing/

Twitter

https://twitter.com/bishinspub

LINKS & RESOURCES MENTIONED

Determining Childhood Disability – Documenting a Child's Impairment-Related Limitations

https://www.ssa.gov/OP_Home/rulings/ssi/02/SSR2009-02-ssi-02.html

Bishins Publishing

https://www.bishinspublishing.com/

Social Security Disability Revealed: Why It's So Hard to Access Benefits and What You Can Do About It

https://www.amazon.com/Social-Security.../dp/B0B5PQ6ZYD

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/

Interested in advertising on Once Upon a Gene? Email advertising@bloodstreammedia.com for more information!

Effisode - Chasing Greenlights Nov 01, 2022

Show notes

Intro music by Scott Holmes

Medical Student - Urvi Gupta Joins the Global Genes Rare Compassion Program with Alexions Patient Advocacy Champion Wendy Erler Oct 27, 2022

Show notes

ONCE UPON A GENE - EPISODE 158

Medical Student - Urvi Gupta Joins the Global Genes Rare Compassion Program with Alexions Patient Advocacy Champion Wendy Erler

Wendy Erler is passionate about the caregiver and patient voice being at the forefront of her work at Alexion Pharmaceuticals. Urvi Gupta is a second year medical student, working with the rare disease community to shape her professional path forward in the medical field. In this episode, I talk with Wendy Erler and Urvi Gupta about the Global Genes Rare Compassion Program.

EPISODE HIGHLIGHTS

Wendy, can you tell us about yourself?

I lead the patient advocacy team at Alexion, a pharmaceutical company focused on rare diseases. We work with physicians, patients, families and caregivers and my job is focused on elevating that partnership and bringing the patient and caregiver voice into everything we do.

Urvi, can you share how you became involved with the rare disease community?

In a class called Clinical Correlation, we had a patient visit and they mentioned the Global Genes Rare Compassion Program, which matches up medical students with patients who have rare diseases to allow them to learn from each other. I've had three patient partners through that program and it's been amazing and inspiring to network with everyone in the rare disease community.

Urvi, how essential do you think it is to experience a true doctor-patient relationship already?

So many patients say their course of treatment varies greatly based on how well their doctor listens to them. I think that's so important when it comes to rare diseases because it's not something you see often and when a patient presents a unique set of symptoms, they can't be brushed off. It's been helpful to experience and come to understand that the patient's perspective is the one that matters and what will help get a diagnosis.

Urvi, in what ways are you interested in raising awareness of the rare disease community?

I would advise all medical students interested in rare disease to join the Global Genes Rare Compassion Program. There are a lot of other rare disease organizations always looking for help and there's likely a perspective you can offer.

LINKS & RESOURCES MENTIONED

Global Genes Rare Compassion Program

https://globalgenes.org/compassion/

Alexion Pharmaceuticals

https://alexion.com/

Connor B. Judge Foundation

https://www.connorbjudgefoundation.org/

CONNECT WITH WENDY & URVI

Wendy Erler

https://www.linkedin.com/in/wendyerler/

Urvi Gupta

https://www.linkedin.com/in/urvigupta1/

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/

The Effects of Rare Disease on Relationships and How to Cope When You and Your Partner Have Different Strategies with KCNH1 Founder and Rare Mama Michaelle Jinnette Oct 20, 2022

Show notes

ONCE UPON A GENE - EPISODE 157

Episode 157 - The Effects of Rare Disease on Relationships and How to Cope When You and Your Partner Have Different Strategies with KCNH1 Founder and Rare Mama Michaelle Jinnette

Michaelle Jinette is a wife and the mom to four boys. Her last son was born with a rare disease and she started a foundation to find and help create a therapy for kids with KCNH1 related disorders. She is also a marriage and family therapist and we're talking with her about the mental aspects of the rare disease world.

EPISODE HIGHLIGHTS

What advice do you have for parents at the beginning of the rare disease journey?

Find a balance of allowing yourself time to process and grieve, but try to move forward and cope in healthy ways. Find what grounds you, stay present, limit negative thoughts of the future and reach out for support from professions, friends and family.

When stuck in the comparison phase, what advice do you have for parents to move beyond that?

Have perspective and be intentional about seeking and having gratitude. Bitterness will isolate you, so choose gratitude and choose to shift your focus to the abilities your child does have, to joy, to your support system, or anything else.

What tips do you have for maintaining a healthy marriage?

Marriage and marriage with young kids is hard to begin with without the added complexity and stress of having kids with extra needs. You have to choose your priorities and set boundaries to focus on them. Carve time out for yourself and your spouse by hiring or asking for help. When you are together, be present and not on your phone or distracted otherwise.

In the way that men and women handle things differently, how can we ensure there's not a resulting resentment?

Very frequently in relationships, there's one partner who is less comfortable with emotional connections and one partner pushing for more emotional connections. With major stressors or grief around diagnosis and health issues, women may feel like men won't talk openly and they feel isolated, when in fact, studies have shown that in conflict or emotional situations, men are dis-regulated. They're overwhelmed, but they cope by avoiding, shutting down and withdrawing. It's important to remember that while your partner may be withdrawn or holding back feelings, that doesn't mean they don't care. Try to have conversations at times when tension isn't high.

LINKS & RESOURCES MENTIONED

Clubhouse Gene Fixers

https://www.clubhouse.com/club/thegenefixers

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 - Gravity Oct 18, 2022

Show notes

Intro music by Scott Holmes

A Rare Collection - Batten Down the Hatches Oct 13, 2022

Show notes

ONCE UPON A GENE - EPISODE 156

A Rare Collection - Batten Down the Hatches

There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.

EPISODE HIGHLIGHTS

My best friend- Kelly Vandewerker

Prior to 2015, I lived a life unaffected by rare disease. When Effie became pregnant, I hosted her baby shower and couldn't wait for her baby to be born. I had a three year old and one year old at the time and imagined them being best friends, going to summer camp together, and spending summers together on our boat. When Ford was born, we knew something wasn't quite right and over the months that followed, he was placed on a feeding tube and made regular trips to the ER. When we had our scheduled girls weekends, Effie didn't want to talk about it- she was angry. As her friend, I didn't know how to support her and outside of sending meals, I didn't know what she needed. When Ford got his CTNNB1 diagnosis, it empowered Effie to stand up and fight. She knew what Ford was up against, she found a tribe of people and she found her voice. With that, she was able to share how her friends and family could support her and her family. I found my passion in helping Ford through fundraising, advocating, building programs and helping schools write grants to fund programs. When it comes to rare diseases, we're all learning and there are a lot of unanswered questions, so support research, support your friends and love on all the amazing rare kiddos.

Best friend to Parvathy Raman Krishnan- Sri Vidhya

Parvathy and I attended school together in India from kindergarten through 12th grade. We knew each other by name and nothing more and came to the United States at different times. When my husband and I learned Parvathy and her husband lived close to us, we met with them and immediately had a spark between our families- like we knew each other forever. As our friendship grew blissfully, Parvathy's husband broke the devastating news to us that their oldest child had been diagnosed with a rare disease. My husband and I didn't know how to respond, whether to ask questions or give their family space. We decided to stay quiet, masking our heavy hearts. I started researching medical terms and gaining understanding so I could talk to my friend. It brought depth to our relationship and it gave us a bigger purpose. I'm always in awe of Parvathy and her husband's grit and determination to handle things, to inspire the world- spreading the message that nothing is too big to handle, merely by living their life everyday.

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/

CRELD1 Dadvocate Paying the Ultimate Price - Seeking Diagnosis for His Two Children, and Raising Awareness with Adam Clatworthy Oct 06, 2022

Show notes

ONCE UPON A GENE - EPISODE 155

CRELD1 Dadvocate Paying the Ultimate Price - Seeking Diagnosis for His Two Children, and Raising Awareness with Adam Clatworthy

Adam Clatworthy is a passionate advocate and blogger with a focus on the importance of the caregiver voice and how much expertise we, as parents, caregivers and patients bring to the table.

EPISODE HIGHLIGHTS

Can you tell us about your family?

My wife is a pediatric nurse and I work in communications. We have a daughter named Daisy who will be 7 years old soon and a son named Alfie who is 17 months. We lost my daughter Lola just over a year ago. Our rare disease journey started with Lola and we didn't know what it was until about 18 months ago. When she was born, there were things that initially worried us and then her first seizure happened when she was 4 months old. Despite seeing several specialists over the following months, doctors didn't know what was causing Lola's symptoms. After Alfie began displaying the same symptoms as Lola, we went back to the geneticist and we were able to confirm the condition they both had was CRELD1.

Reflecting on what you know now about Lola's medical care, how do you approach Alfie's appointments?

We feel heard and our neurologist recently presented a case study about the importance of listening to parents as part of the diagnosis phase. He reached out to us to understand as much as possible. When we talk about Alfie's treatment options, we feel heard when we share what did and didn't work for Lola. We're also exploring therapeutic and more natural remedies as well, so we're more resistant to trying multiple drugs and we seek out experts in fields that support the use of supplements and more natural remedies. While those remedies aren't always recognized in the general medical population, we have pushed to get guidance from the right people and bring it all together to work the best it can for Alfie.

What has been your experience connecting with other rare disease dads?

I find that it's a struggle for men to talk about things and it's helpful to have an outlet to get things off your chest, vent, and get the pain and anger out of your head. Since starting the journey with Lola, I have lost touch with a lot of my friends because they didn't know how to be around me. There are a lot of moms in the rare disease community, which is great for my wife, but there aren't a lot of dads in the support groups.

LINKS AND RESOURCES MENTIONED

Global Genes Patient Advocacy Summit Recordings

https://www.cvent.com/

CRELD1 Warriors Website

https://www.creld1.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