Once Upon A Gene

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

https://radygenomics.org/begin-ngs-newborn-sequencing/

BeginNGS - Newborn Genomic Sequencing to End the Diagnostic Odyssey with Dr. Stephen Kingsmore, Wendy Erler and Tom DeFay Mar 14, 2024

Show notes

ONCE UPON A GENE - EPISODE 221

BeginNGS - Newborn Genomic Sequencing to End the Diagnostic Odyssey with Dr. Stephen Kingsmore, Wendy Erler and Tom DeFay

I'm joined by Dr. Stephen Kingsmore, Wendy Erler and Tom DeFay to discuss BeginNGS, a ground-breaking initiative that stands at the forefront of genetic sequencing and rare disease diagnosis.

EPISODE HIGHLIGHTS

What led to the creation of BeginNGS?

Rare genetic diseases are an immense health ecosystem challenge- receiving a timely diagnosis. On average, it takes 4.8 years to diagnose a child with a genetic disease, and meanwhile, symptoms continue to worsen and the disease progresses. The goal of BeginNGS is to prevent or reduce the impact on children with rare genetic diseases, minimizing suffering, cost and delay of diagnosis.

Why is BeginNGS an important initiative to support?

Anyone connected to the rare disease community shares the same vision for a world where every rare disease patient receives the right effective treatment at the right time. That starts with changing the diagnostic odyssey and ensuring early, fast diagnosis.

What is the mission of the BeginNGS Consortium?

The BeginNGS Consortium is a partnership of pharmaceutical and biotech companies, sharing a vision of the right effective treatment at the right time. Our vision is ultimately to ensure every baby born in the United States has the opportunity to be screened for rare disorders. What differentiates this program and the consortium is that the patient communities have been represented from the beginning and the patient population communities has been impressive. Some of our working groups are led by members of the patient community to make sure that what's delivered is valuable to the patients.

What are the major pain points to leveraging newborn screening for preventable disorders and broad use of rapid diagnostic genome sequencing?

Pediatricians rarely order genome sequencing. We estimate only 2% of children who need the testing get it. Additionally, even when testing is ordered, it doesn't always translate into optimal treatments and there can still be delays in life-saving treatments.

What does the future look like for BeginNGS?

The BeginNGS Consortium is comprised of rare disease advocacy organizations, parent support groups, healthcare systems, policy makers, experts in academic medicine, biotech companies developing new genome sequencing methods and pharmaceutical companies developing new treatments for rare genetic diseases. We hope to increase the size of the consortium so we can grow the organization and capture every voice and represent every genetic disease. Another strong aspiration is to raise grant support and funding to complete and deploy our pivotal clinical trial.

LINKS AND RESOURCES MENTIONED

BeginNGS

Alexion

https://alexion.com/

ONCE UPON A GENE - EPISODE 213 - Finding Strength In Every Step

https://effieparks.com/podcast/episode-213-finding-strength-in-every-step

Frontiers 2024 Conference

https://radygenomics.org/frontiers-conference/

CONNECT WITH EFFIE PARKS

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

https://www.genomicsengland.co.uk/

A Rare Collection - From Financial Strain to Supportive Gain - A Call For Action Mar 07, 2024

Show notes

ONCE UPON A GENE - EPISODE 220

A Rare Collection - From Financial Strain to Supportive Gain - A Call For Action

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

Katie Scheid

The beginning of my care-giving journey was filled with trauma, disbelief and a complete re-shaping of the life I knew. My daughter Millie is three and a half years old and I am her full-time, unpaid caregiver. She suffered a severe stroke just before she was born, resulting in complete care for the rest of her life. She is blind, can't sit or hold her head up, can't speak or control her body's movements. She's tube-fed and has over 50 seizures each day. In Washington, kids like Millie, whose needs qualify for in-home care, can have any person be their hired care-giver, except a parent. Millie was assessed and allocated for 185 hours per month of paid, in-home care-giving to alleviate the burden on us as her primary care-givers. After 6 months, we didn't receive a single applicant. I quit my job to be her care-giver and we've struggled to live on one income since. Parents Empowering Parents of Washington (PEPWA) is a group of over 550 advocate members working to change the laws in Washington. We are leading the fight to access the service our kids qualify for and we demand better for ourselves and our kids.

Lindsey Topping-Schuetz

On January 10th, I testified before the Washington State House Committee on Human Services, Youth and Early Learning in favor of HB2184. This legislation would authorize payment of parental care-givers of minor children with developmental disabilities. January 10th is a significant day for my family. Seven years ago, my husband and I would leave the hospital for the first time with our son, Owen. He spent 103 days in the NICU. We walked down the hallway lined with staff and family, everyone clapping and cheering. Owen came home dependent on oxygen and a feeding tube. He would have dozens of episodes a day that left him struggling to breathe. At three years old, Owen was granted hours to pay someone other than my husband or I to care for him. It's nearly impossible to utilize these hours because there's a shortage of nurses and they're not provided with the medical training required to care for my son. Care-giving a child like Owen goes well beyond parenting. The financial hardship has burdened our entire extended family. HB2184 has the ability to change the lives of families like mine. It is time for Washington to acknowledge the work of parent care-givers in the same way as all other care-givers.

Emily Holloway

I'm the mom of four children and I live in Virginia. Our daughter Chloe was diagnosed with a rare disease of her lymphatic system. While her life was seemingly normal for the first eight years, we drove head first into the medical world when she began showing signs of the disease. Working full time wasn't realistic, so I left my teaching career and our family income was cut in half. Chloe receives g-tube feedings and several medications, she needs assistance bathing and walking, she attends weekly therapy sessions and she requires a lot of care. I was given the opportunity to become her paid care-giver and I was thrilled to be home caring for Chloe, contributing to our finances, an opportunity that ended when the pandemic and medical lockdown concluded. Medicaid believes care-takers now need to head back to work and hire care-takers for their children. Additionally, there's a maximum amount of care hours a child can receive, regardless of their needs. The best interest of children is missing from these regulations. We hope our legislators will allow the parents who know their children best, love them the most and are the biggest advocates for their well-being, to remain their care-takers and receive a small reimbursement to help pay living expenses.

Genomics England Clinical Lead for Genetic Counseling - Amanda Pichini Feb 29, 2024

Show notes

ONCE UPON A GENE - EPISODE 219

Genomics England Clinical Lead for Genetic Counseling - Amanda Pichini

Amanda Pichini is a genetic counselor from Genomics England, here to share their initiatives and mission.

EPISODE HIGHLIGHTS

What is your role at Genomics England and how did your career develop?

I work at Genomics England as the Director of Clinical Implementation and I'm responsible for the strategic clinical leadership for our products and services, ensuring research, diagnostics and clinical programs we support are in line with the latest healthcare standards and research. Prior to joining Genomics England, I worked as a genetic counselor, a profession I was interested in for a long time. When I started studying biology, I was keen to do something that allowed me to communicate and speak to people, but still be immersed in science. While my role isn't patient-facing now, I bring my genetic counselor skills to understand the complexities of genetics in healthcare and how we communicate to various audiences to design and deliver our programs.

What are the current initiatives at Genomics England?

Since the 100,000 Genomes Project, we are focused on working with the NHS to provide genome sequencing as a standard clinical test. We've worked hard to ensure healthcare professionals understand how to help families through the process, manage their expectations and potential results of genome sequencing. We're also focused on looking at different types of sequencing technology we can use to enhance the testing and care for cancer patients, and also a newborn genomes program which is part of a large-scale national research study called the Generation Study. This study will sequence the genomes of 100,000 newborn babies with a goal of understanding if sequencing in the newborn period can help identify rare conditions earlier in life, with the ideal goal of improving the quality of life and outcomes for the babies identified as having a rare condition.

Can you talk more about the newborn screening?

Like in the US, we do a heel prick when a baby is about 5 days old at the parent's discretion. We recommend it as public health and to look for rare conditions that could be treated if found early. We currently test for 9 conditions, but the Generation Study is an optional screening in addition to standard newborn screening. It will be available to parents at different hospital sites, a baby doesn't already need to be ill and parents don't have to have a known history to participate. At birth, a small amount of cord blood will be taken and that sample used to carry out genome sequencing and to look for around 200 rare conditions that we feel would have an early intervention option if found through screening. We will follow up on every test, with much closer monitoring and follow-up where a condition may be positive.

LINKS AND RESOURCES MENTIONED

Genomics England

Genetic Alliance UK

https://geneticalliance.org.uk/

Genetic Alliance US

https://geneticalliance.org/

CONNECT WITH EFFIE PARKS

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

More Than a Memoir Website

James G Robinson - More Than We Expected Author - Five Years with a Remarkable Child Feb 22, 2024

Show notes

ONCE UPON A GENE - EPISODE 218

James G Robinson - More Than We Expected Author - Five Years with a Remarkable Child

James Robinson is a dad and the author of More Than We Expected: Five Years With a Remarkable Child, a deeply moving book and a testament to the strength found in vulnerability, the importance of community and the boundless love that families share in the face of adversity.

EPISODE HIGHLIGHTS

Can you tell us about your family and what inspired your book?

My wife and I have three sons, one who was a twin born with a congenital heart defect called heterotaxy that died at age 5. My book is a memoir, a story of our years together and why it was such a privilege to be Nadav's father.

How did writing your book impact your healing process?

When Nadav died, I felt a tug to write about his life. Right after he died, we took a roadtrip across the US, just to feel the relief of the open road. I first wrote an essay about the trip, Road to Recovery, that was published in The New York Times and a lot of people wrote in to talk about how they had gone through similar experiences. I realized that sharing our story was valuable to others. I started writing on topics we had been through to get things out of my brain— faith, anatomy, food, music. Getting things on paper was a relief, but I also wanted to leave things written on paper for his brothers so they knew what we went through and how I dealt with it. In many ways, the story is about how I found the strength to tell his brothers that he died.

What is your advice for other parents who are in a position of making tough medical decisions for their children?

There's a lot of ambiguity in medicine and that informed much of my decision making because I came to learn to educate myself the best I could, but then ultimately go with my gut.

How did your family's faith influence decisions you made for Nadav?

Faith was complicated for us, not that we doubted our faith, but our eyes were opened to what faith really is. There is something about faith that brings people together and I think that's the best aspect of faith— the importance of connection and strength in troubling times when and where you may not expect. After a surgery, we learned Nadav wasn't doing well and that he would either stabilize or deteriorate over night. Despite the news, my wife pointed out that it was up to Nadav and that she could live with whatever he decided because she trusted him. That was a statement of faith more profound than I've ever experienced. It wasn't hope, it was faith, and that was powerful for me and the faith that carried me through a lot of times of uncertainty.

LINKS AND RESOURCES MENTIONED

https://morethanamemoir.com/

More Than We Expected: Five Years With a Remarkable Child

https://www.amazon.com/More-Than-We-Expected-Remarkable/dp/1637588224

Road to Recovery

https://www.nytimes.com/2017/12/07/travel/road-trip-family-grief.html

More Than We Expected: A Conversation with Father and Author James Robinson

https://courageousparentsnetwork.org/events/more-than-we-expected-a-conversation-with-father-and-author-james-robinson

CONNECT WITH EFFIE PARKS

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

The Two Disabled Dudes Podcast - Episode 215 – Birthday Parties Can Be Tough

More of Everything - How I Became a Better Parent to My Child With Extreme Special Needs By Lifting My Emotional Burdens With SYNGAP1 Mom - Janie Reade Feb 15, 2024

Show notes

ONCE UPON A GENE - EPISODE 184

More of Everything - How I Became a Better Parent to My Child With Extreme Special Needs By Lifting My Emotional Burdens With SYNGAP1 Mom - Janie Reade

Janie Reade is an author and mom to three adult sons, one with a severe neurodevelopmental disorder caused by a mutation in the SYNGAP1 gene. We'll talk about her unique perspective as a parent and also about her book, More of Everything: How I Became a Better Parent to My Child with Extreme Special Needs by Lifting My Emotional Burdens.

EPISODE HIGHLIGHTS

Tell us about yourself and your family.

I am married with three adult sons. Joey is our second child and he lives in a group home. When he was younger, he wasn't developing as he should and started biting his hand. When he was little, he wasn't hurting himself, but as he aged stress made biting worse and there was little I could do to help. After he went to a group home, he stopped biting a couple days later.

Can you talk about your book?

The goal of the book was to show who I am and how I think. The first portion of the book is a series of vignettes starting at age four, going through age 21. At the end of each is a looking back section where I summarize about that time and a lesson section about my takeaways. I also talk later in the book about acceptance and frustration. Finally, I talk about parent coaching, which is what I do.

Growing up with Joey, did either of your other two sons grow up and go into a compassionate-led career?

No, but they're both very compassionate and emotionally-aware people. My oldest son volunteered as a peer counselor when he was in high school. It was a way for him to talk to people and help them through problems. He has a very emotionally deep soul. My youngest son has always been very inclusive and a connector of people. After Joey moved and I was very sad, my oldest son told me that our family was a group project and that, just like in a group project, we had to do what was best for everyone.

How did you find community support and what did it change for you?

I tried support groups and they weren't a good fit due to the severe intellectual disability my son has. When he was younger, I was told he would catch up, so I didn't fit in an intellectual disability group either. I didn't find people for a long time.

LINKS & RESOURCES MENTIONED

https://twodisableddudes.com/215-birthday-parties-can-be-tough-with-guest-host-effie-parks/

The Disorder Channel

https://www.thedisordercollection.com/

Emotional Agility: Get Unstuck, Embrace Change, and Thrive in Work and Life

https://www.amazon.com/Emotional-Agility-Unstuck-Embrace-Change/dp/1592409490

More of Everything: How I Became a Better Parent to My Child with Extreme Special Needs by Lifting My Emotional Burdens

https://www.amazon.com/More-Everything-extreme-special-emotional-ebook/dp/B0BQ2C7HNL

Janie Reade Website

https://janiereade.com/

TUNE INTO THE ONCE UPON A GENE PODCAST

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Stitcher

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Overcast

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

CONNECT WITH EFFIE PARKS

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https://combinedbrain.org/

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

Uniting Science and Hope - COMBINEDBrain and it's Quest to Transform Research and Treatment for Rare Genetic Neurodevelopmental Disorders with Terry Jo Bichell Feb 08, 2024

Show notes

ONCE UPON A GENE - EPISODE 217

Uniting Science and Hope - COMBINEDBrain and its Quest to Transform Research and Treatment for Rare Genetic Neurodevelopmental Disorders with Terry Jo Bichell

Terry Jo Bichell is a rare mom, neuroscientist and the founder of COMBINEDBrain, a nonprofit organization revolutionizing the approach to clinical treatments for rare genetic neurodevelopmental disorders by pooling efforts, studies and data.

EPISODE HIGHLIGHTS

Can you share a little bit about yourself and how you came into the rare disease space?

I am a mom of five grown kids and my youngest is 24 years old and has a diagnosis of Angelman syndrome. With that, everything that was interesting to me wasn't interesting anymore and I turned my attention to neurological, genetic and developmental things. I worked as a nurse and midwife before my youngest son was born and I took a particular interest in research. Research felt like it was taking forever and I had the innocent notion that I could push things faster if I only had the right science degree, so I went back to school and got a PhD in molecular neuroscience.

What inspired you to form your organization, COMBINEDBrain?

While I was working on my PhD, scientists figured out treatments for Angelman syndrome and a way to measure if the compounds were working was needed. I was drafted to work on the Angelman Biomarkers and Outcome Measures Alliance (A-BOM) and learned I could take what I knew about Angelman and apply it to a lot of other similar disorders. I started COMBINEDBrain to take the lessons from A-BOM and expand it to as many other disorders as possible.

What are COMBINEDBrain's key services and programs?

The biorepository has over 900 individuals represented and we collect all samples to be used for biomarker studies for use in stem cells. We have a COMBINEDBrain registry that any disorder member can use for free and transfer data into their own portal. Project FIND-OUT has a goal of facilitating early diagnosis of rare genetic neurodevelopmental disorders in infants based on 7 symptom categories. In the future, we'll also expand this offering to adults.

Can you tell us about the COMBINEDBrain Roadshow?

Many of our participating member organizations are having conferences this year across the country. We have asked each organization to open their conference to other member organizations so we can collect COMBINEDBrain member samples at those sites. This allows us to meet local families and opens up an opportunity to stop by the conference and submit their donation. We can also send a mobile phlebotomist to patient homes to collect and submit samples.

LINKS AND RESOURCES MENTIONED

COMBINEDBrain

Angelman Syndrome Foundation

https://www.angelman.org/

The Foundation for Angelman Syndrome Therapeutics

https://cureangelman.org/

Simons Searchlight

https://www.simonssearchlight.org/

Rare-X

https://rare-x.org/

Probably Genetic

https://www.probablygenetic.com/

AmbitCare

https://ambitcare.com/geneticseizures/

Project FIND-OUT

https://projectfindout.org/

CONNECT WITH EFFIE PARKS

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

ONCE UPON A GENE - EPISODE 200 - Fundraising Strategies for Patient Advocacy Organizations Raising Money for Rare Disease Research with Lindsay Stevens

A Rare Collection - Five Advocacy Aces Share Their Conference Commandments Feb 01, 2024

Show notes

ONCE UPON A GENE - EPISODE 201

A Rare Collection - Five Advocacy Aces Share Their Conference Commandments

EPISODE HIGHLIGHTS

Melissa Hioco, STXBP1

DO:

Offer a family hospitality room where parents can see the broadcast and stay involved in the conference.
Provide sibling spaces and make them feel special.
Spend the extra money to provide a buffet dinner and a kid's buffet with kid-friendly food.
Ask for discounts on everything.
Find a local AV company who will work within your budget.
Create sponsorship tiers and ask for sponsorship.
Provided one-on-one genetic counseling to families at no cost.
Provide social opportunities for families to connect with researchers.
Utilize an event center with a hotel for accessibility.
Research if a city or state has incentives available when holding events there.

DON’T:

Offer childcare because it's a liability.
Provide a plated dinner because it's logistically complex.
Accept the initial quote you're provided without trying to negotiate costs.
Use the hotel's AV company because the cost will be higher.

Trish Flanagan, HNRNPH2

DO:

Invite not just impacted families to your event, but also the researchers carrying out studies about your rare disease.
Poll your community about event location, dates that work best, and discussion topics.
Provide speakers with plenty of notice when inviting them to a conference.
Make sure your event space adequately supports the patient and families' needs.
Be transparent about the cost, inclusions and exclusions of the event.

DON’T:

Don't leave the research team to organize and schedule patient assessments without your input.
Don't overlook having an interpreter and special equipment that may be needed.

Amy Fenton Parker, BDSRA

DO:

If your budget allows, utilize a professional conference planning team.
Include a family reunion reception or party so families can reconnect.
Schedule separate break-out sessions for moms, dads, siblings, and other caregivers.
Use a technology provider who will make suggestions for the best outcomes and to make your conference dynamic.
Explore pre-recorded sessions and livestreams.
Offer a breakfast buffet so guests start their day off right.
Provide trained professionals for childcare and make parents aware of the offering.
Take advantage of area professionals who can offer services at the conference.
Create a planning committee to brainstorm ideas and help on the day of the event.
Utilize your board to assist with speakers

Kara Kilroy, JdVS

DO:

Make space for families to connect and share.
Manage volunteers well, meeting with them in advance to communicate plans and coordination.
Spend money on AV to ensure you have the right set-up in-person and also capture recordings and/or livestreams.
Sit with families and take everything in, enjoying the moment and appreciating all your hard work.
Have a planning committee.

DON’T:

Don't expect perfection and be ready to roll with changes and pivot.
If you provide childcare, ensure you have options for different age groups and different needs so parents get the most out of their attendance.

Ashley Point, KdVS

DO:

Recruit volunteers.
Find a host family in the local area to accept shipments, recommend local services and companies and connect you with volunteers.
Work with an event site company who understands your needs and who can negotiate costs on your behalf.
Fundraise, fundraise, fundraise. Ask, ask, ask.
Set a budget early, but stay flexible.
Set a rough agenda based on what's important to your community.
Be sure to allow for time for families to gather together and add breaks during the event.

LINKS AND RESOURCES MENTIONED

Soundtrack of Silence - Love, Loss, and a Playlist for Life with Neurofibromatosis Type 2 (NF2) Patient Advocate - Matt Hay Jan 25, 2024

Show notes

ONCE UPON A GENE - EPISODE 216

Soundtrack of Silence - Love, Loss, and a Playlist for Life with Neurofibromatosis Type 2 (NF2) Patient Advocate - Matt Hay

Matt Hay has a disorder called Neurofibromatosis type 2 (NF2) and how he has more than overcome the challenges that came with it— he has thrived because of it. He is the author of a new book, Soundtrack of Silence: Love, Loss, and a Playlist for Life.

EPISODE HIGHLIGHTS

Can you talk about the inspiration for your book?

NF2 causes tumors to grow on nerves and I have benign tumors on my hearing nerves. So while my ears work, the nerve that connects my hearing and my brain has been damaged and I'm deaf as a result. I felt a responsibility to put into words what I've been through because I once felt like I didn't have anyone to turn to.

Can you tell us about the soundtrack and collecting the songs on the playlist?

When I came face-to-face with losing my hearing, I knew I wanted to hold on to music and the memories associated with specific songs. The soundtrack is a collection of songs associated with my experiences with rare disease. I started listening to songs with intention and considered the songs I wanted stuck in my head for the rest of my life, the ones I wanted to reflect back on in sorrow and joy.

Can you talk about your mindset to thrive?

I spent a lot of time when I was younger, pretending my NF2 challenges didn't exist, hiding symptoms from others, putting so much energy into trying to exist as a person in spite of my disease. I realized later that through my challenges, I had learned to be a better listener because of my hearing loss. I became more empathetic because I have experienced in my own life that it doesn't matter how hard you try, some things are out of reach. I wouldn't have developed these skills without having NF2 and I'm proud of how it has shaped me and what I've learned from it.

What is your advice for others who want to tell their story?

Having spent a lot of time advocating for myself and others, I notice this belief that someone has to be a polished speaker to tell their story. When it comes to sharing your story about rare disease, the more real and authentic, the more impactful. Your story is absolutely worth telling. And sometimes if you don't feel capable, just existing is enough.

LINKS AND RESOURCES MENTIONED

Soundtrack of Silence: Love, Loss, and a Playlist for Life

https://bookshop.org/p/books/soundtrack-of-silence-matt-hay/19995432?ean=9781250280220

Soundtrack of Silence on Spotify

https://open.spotify.com/playlist/1GCTtdXb5zzJO0OMMZbcfv?si=0a9c377b237d4675

ONCE UPON A GENE - EPISODE 214 - A Courageous Gift - The Power of Brain and Tissue Donation in Rare Disease Research with Anne Rugari

https://effieparks.com/podcast/episode-214-the-power-of-brain-and-tissue-donation-in-rare-disease-research

ONCE UPON A GENE - EPISODE 215 - Beyond the Crossroads- Rebuilding and Reclaiming Identity After Sacrificing Careers for Caregiving with Emily Crawford

https://effieparks.com/podcast/episode-215-beyond-the-crossroads

ONCE UPON A GENE - EPISODE 209 - A Leap of Faith - Rare Disease Moms on the Bittersweet Joy of New Babies

https://effieparks.com/podcast/episode-209-a-leap-of-faith

Matt Hay on Instagram

https://www.instagram.com/hearmatthay/

CONNECT WITH EFFIE PARKS

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

Walking Club Facebook Group

Beyond the Crossroads- Rebuilding and Reclaiming Identity After Sacrificing Careers for Caregiving with Emily Crawford Jan 18, 2024

Show notes

ONCE UPON A GENE - EPISODE 215

Beyond the Crossroads- Rebuilding and Reclaiming Identity After Sacrificing Careers for Caregiving with Emily Crawford

Emily Crawford left her lifelong dream job of being a teacher to surrender to the demands of care-giving. She joins me to discuss identity loss and metamorphosis after becoming a parent to a medically complex child.

EPISODE HIGHLIGHTS

Can you tell us about your family?

I have four children— Chloe is my middle child. The first eight years of Chloe's life was seemingly normal and she hit all the expected milestones. At eight years old she started presenting unique symptoms and she was eventually diagnosed with a rare, life-threatening illness of her lymphatic system, called central conducting lymphatic anomaly (CCLA).

How has Chloe's diagnosis affected your career and how did the shift affect your sense of personal identity?

I wanted to be a teacher my whole life. Right before Chloe was diagnosed, I was at the pinnacle of my career, being recognized as teacher of the year, presenting at teaching conferences and I loved living my passion. Immersed very quickly and suddenly into the medical parenting world, I had to give up my career teaching. It's a personal struggle not to be teaching and the shift has been difficult. The shift was dark and isolating and I felt like I didn't have anything to contribute to the conversations with teacher friends. I wasn't connected to anyone else around me and I also experienced jealousy in my marriage because my partner was still able to work.

How have you adapted to your new role?

The biggest part of my journey has been to take part in mental health therapy, which has been really helpful for me. I get to the gym every day and I am part of the OUAG walk group. I look for pockets of time where I can do things for myself, like walking the parking lot when my daughter is in therapy sessions. I have leaned into my network of friends who have put in the time to learn about what I'm going through and I make time to have dinner or to see a movie with them. My children are my #1 priority, but I am Emily and I stay connected to myself the best I can.

Can you share about your recognition as a CPN Parent Champion?

I found CPN when I was researching pediatric palliative care and I knew my teaching skills would lend well to the Parent Champion opportunity. That role has led me to my people. We're all doing big things, parenting, doing the hard stuff and we can relate well to each other.

LINKS AND RESOURCES MENTIONED

https://www.facebook.com/onceuponagene.podcast/

Courageous Parents Network

https://courageousparentsnetwork.org/

CONNECT WITH EFFIE PARKS