Once Upon A Gene

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

Effisode - The Lunchboxes Aug 09, 2022

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Intro music by Scott Holmes

When Your Career and Personal Life Collide - VP of Medical and Science Strategy and Head of Syneos Health's Rare Disease Consortium FSHD Rare Dad - Raymond Huml Aug 04, 2022

Show notes

ONCE UPON A GENE - EPISODE 146

When Your Career and Personal Life Collide - VP of Medical and Science Strategy and Head of Syneos Health's Rare Disease Consortium FSHD Rare Dad - Raymond Huml

Ray Huml and his wife have two kids with Facioscapulohumeral Muscular Dystrophy (FSHD). He's an author, Vice President of Medical and Scientific Strategy and Head of the Rare Disease Consortium at Syneos Health Clinical Solutions.

EPISODE HIGHLIGHTS

As a family, how do you navigate metal health?

We've decided as a family to take what's not good and make it good. We reach out to the professionals we need to for mental and physical health. My dad used to say we're all composed of body, mind and spirit and they're all interwoven, so you have to address all aspects.

How do you find patients to participate in clinical trials?

There has to be a compelling argument for why a person should participate in a clinical trial. I lobby heavily in the FSHD Society to develop ICD-10 codes for Muscular Dystrophy, including FSHD, so patients can be tracked. That provides a digital footprint of identifiable patients with a diagnosis. With HIPPA rules, you can't contact patients directly, but the data can be used to know how many patients there are.

What advice do you have for patient advocacy groups to get ICD-10 codes approved?

Be persistent and advocate for each rare disease individually so it's more easily differentiated and tracked.

How have things changed for you as a caregiver as your children have grown into adults and gone away to college?

We've changed our life in order to support them, traveling often to help how we can, encouraging them and staying connected.

CONNECT WITH RAY

Email: raymondhuml@gmail.com or raymond.huml@syneoshealth.com

LINKS & RESOURCES MENTIONED

https://globalgenes.org/event/rare-patient-advocacy-summit/

FHSD Society

https://www.fshdsociety.org/

Accelerating Rare Disease Drug Development: Lessons Learned from Muscular Dystrophy Patient Advocacy Groups

https://link.springer.com/article/10.1007/s43441-020-00221-4

Parent Project Muscular Dystrophy

https://www.parentprojectmd.org/

Accelerating Rare Disease Research by Listening to the Patient Voice

https://www.syneoshealth.com/insights-hub/incorporating-the-patient-voice-into-the-rare-disease-drug-development-paradigm

Muscular Dystrophy Association

https://www.mda.org/

Books by Raymond Huml

https://www.amazon.com/s?i=stripbooks&rh=p_27%3ARaymond+A.+Huml&s=relevancerank&text=Raymond+A.+Huml&ref=dp_byline_sr_book_1

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Ensuring that the Patient and Caregiver Voice are Part of Clinical Trial Design and Engagement - Bridging the Gap with Industry with Shazia Ahmad Jul 28, 2022

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ONCE UPON A GENE - EPISODE 145

Ensuring that the Patient and Caregiver Voice are Part of Clinical Trial Design and Engagement - Bridging the Gap with Industry with Shazia Ahmad

Shazia Ahmad is the Senior Director and Head of Patient and Physician Services at UBC. She earned a BS in physiology and neurobiology from the University of Maryland and has over 20 years of experience in the therapeutic development industry.

EPISODE HIGHLIGHTS

Can you talk about your work designing clinical trials?

I started my career at the NIH as a Research Coordinator and that's where my work in rare diseases and infectious disease started. I worked closely with patients, parents, caregivers, and care partners. At UBC I've been involved in heading up the patient services division which handles patient advocacy and stakeholder engagement. What invigorates my passion for the rare disease space is my own personal journey. I have a daughter with Kawasaki disease (KD). Because we received a diagnosis in a timely way before going into phase two of KD, we were able to get treatment for her to recover completely. It left a mark on me in my career moving forward to focus on integrating advocacy and understanding the patient journey, and the impact on the families in any program that I would support in healthcare moving forward.

Why should families seek out clinical trials?

I think it's so important for families to understand the impact that their participation could make in participating in clinical trials because it's hope and a possible treatment. But most importantly, it's helping the overall patient community for that particular diagnosis, which is huge and it's critical.

What transformational changes are you seeing around designing trials and gathering a more diverse population?

As I work on clinical trials, I'm seeing more advocacy organizations partnering with the industry and making an impact early on. I'm also seeing a lot of the new technologies coming out for improving diagnosis, creating more communication, education and awareness about rare diseases in general, not just clinical trials. There's a lot of good collaboration going on within patient communities.

What are the gaps with industry right now and how do we bridge that with advocacy?

Industry is starting to do a better job in understanding the journey and bringing that into design and implementation. What often happens is they complete the clinical trial and sometimes that awareness and continuous conversation with that patient community is not ongoing. We need more community building within industry to keep those communities engaged and there are gaps there. We also need more sponsors to work together. There's so much that we could do if we really conquer some of these rare diseases together and come together as a community to create a bridge where we can learn from each other.

LINKS & RESOURCES MENTIONED

https://globalgenes.org/event/rare-patient-advocacy-summit/

UBC

https://ubc.com/

Shazia Ahmad - Linkedin

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

TUNE INTO THE ONCE UPON A GENE PODCAST

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Effisode - CTNNB1 Awareness Day - Rare Disease Family Meet-Up Jul 26, 2022

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Intro music by Scott Holmes

Summer Surfing - Get On Top of the IEP Wave - Things You Can Do This Summer to Make Next Year Better with Gay Grossman Jul 21, 2022

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ONCE UPON A GENE - EPISODE 144

Summer Surfing - Get On Top of the IEP Wave - Things You Can Do This Summer to Make Next Year Better with Gay Grossman

Gay Grossman is the co-founder of ADCY5.org and she's a mom to her 25 year old daughter Lilly who lives with a rare disease. She's been an advocate for everyone in the rare disease community for over 20 years. She shares her knowledge with us about IEP's and how to be the fiercest, most equipped advocates we can be.

EPISODE HIGHLIGHTS

What is the difference between 504 and IEP?

A 504 is the plan utilized to help kids that may need adaptations or accommodations in the classroom. An IEP is a federal document that has to be followed by school districts that provides individual support to a single child. An IEP is changed yearly and often to ensure a child has the accommodations needed to access their education.

How can parents prepare for and restructure IEP meetings?

Several people will be there and the first step is generally to go around the room reading reports about a child's diagnosis and challenges. Ahead of the meeting, request that all reports are provided a week before the meeting so you can create an agenda. Read the reports at home and create an agenda that begins with an overview of top needs and how to meet those needs.

Who writes an IEP and what should parents know about it?

The IEP is written by the school. Take the IEP home, review it and ensure you understand it before you sign it. An IEP is a legal contract, so it's important to document, take good notes, communicate through email, and cover yourself. You can call an IEP meeting any time of year, but avoid the end of the school year to maximize time and attention. It's okay to hire an advocate or attorney or invite a friend to be in attendance at the meetings.

What advice do you have for parents going into their first IEP?

If a goal doesn't seem measurable, it's not a goal you care about, or it's not a goal your child strives for, make a new goal. Focus on highlighting goals that are helpful so you can change goals that aren't helpful. Request a meeting with the school, visit the classroom to familiarize yourself, ensure the goals that you've prioritized are obtainable.

LINKS & RESOURCES MENTIONED

https://globalgenes.org/event/rare-patient-advocacy-summit/

Individuals with Disabilities Education Act (IDEA)

https://sites.ed.gov/idea/

ADCY5.org

https://www.adcy5.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

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A Rare Collection - I Will Never Forget Jul 14, 2022

Show notes

ONCE UPON A GENE - EPISODE 148

A Rare Collection - I Will Never Forget

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

Elli Brimble

As a researcher and genetic counselor, I work behind the scenes to help families craft their own stories. I met Nasha Fitter in 2016 when her daughter developed infantile spasms during a family vacation, resulting in an emergency flight home and hospitalization. The response to treatment was immediate, but an epilepsy gene panel result revealed that the spasms were caused by a change in one copy of the FOXG1 gene. Weeks later, Nasha and I would start corresponding about what resulted in a foundation dedicated to funding science and research for FOXG1 syndrome. Nasha quickly became an expert in biology, clinical trial readiness, drug development and fundraising. Today, Nasha and I work as partners, championing the product we built through this shared experience and all the ones that came after.

Kira Dineen

As a graduate student, studying to become a genetic counselor, I met a couple I will never forget that widened my perspective on rare diseases. In a prenatal setting, we're reviewing family health history and the mother of that baby shares that her biological niece has a rare disorder. The mother wanted to test her baby for the rare disorder her niece had and the father didn't want to do testing during pregnancy. The father highlighted how much joy the niece brought to the family and that he would want to have a child with the same disorder. As a student, it was a turning point to talk to someone who had such a positive and rewarding relationship with someone with a rare disease. I want to see more celebrations of rare diseases like this couple shared with me.

Abigail Turnwald

I'll never forget receiving the first positive genetic test result during graduate school. Just as the parents, I really hoped it would be negative and when I saw the positive result, my heart sank. I dialed their phone number, listened to the rings and hoped they didn't answer because I didn't want to deliver the news. I practiced what to say to make sure I had the words just right. I learned in graduate school that when you give a diagnosis, families will remember the words you said forever. This was the first diagnosis I gave and I will never forget. Some days I still think of the family and wonder if I said the right words and what would have made receiving the news easier. I know when I deliver a diagnosis, lives are forever changed and parents will never forget that moment, and neither will I.

CONNECT WITH EFFIE PARKS

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Effisode - Back on Track - All Aboard the Inclusion Train Jul 12, 2022

Show notes

Intro music by Scott Holmes

Half of the Day She's a Diversity Champion, the Other Half a Rare Disease Mom and Caregiver with Yosr Hamza Jul 07, 2022

Show notes

ONCE UPON A GENE - EPISODE 142

Half of the Day She's a Diversity Champion, the Other Half a Rare Disease Mom and Caregiver with Yosr Hamza

Yosr Hamza is a lawyer, caregiver, and mom and she joins us to talk about what it's like to be a parent to a child with a rare disease in the Middle East, where rare disease isn't as accepted or normalized.

EPISODE HIGHLIGHTS

How have you navigated having a child with a rare disease and discovered your powerful voice to embrace your child?

For an entire year, I didn't share my secret that my son had a rare disease outside of my family. I was my own judge and was scared of anyone judging my capability to work and manage everything. I had to embrace it on my own first before I could grow stronger and move past wanting to hide something that makes me who I am. I now see it from the perspective that if someone can't embrace it, that's on them, not me. I wouldn't be able to embrace my own diversity and be my most authentic self without going through what I have with my child and his journey.

What tools and resources helped you to move through the initial emotions after your child was born?

One thing I've learned through my journey is to really feel every feeling. I no longer fight back sadness, when I'm down, when I can't do something. It can take a day or two sometimes, but the importance is recognizing when I need to take a break and take time to care for myself. If you're not okay, you can't care for anyone else. I learned that I don't delegate well, but I eventually learned to recognize who was around me, willing to support me and I prepared ideas of things I was able to delegate. It's also been important for me to keep an open mind and not decide in advance what my journey should look like. Being very career oriented, having a plan for myself, it was difficult to realize that I no longer need to win, but I just have to stay in the race.

As a caregiver, what are your goals for yourself and your child?

I hope to have a space for caregivers and children like my son in my region. It's unfortunate that there are no resources and we have to fight for everything. There are no nurseries or schools and it creates a need for support. The help and resources are not here and the government isn't investing in it. I'm being vocal about this to hopefully inspire other parents to speak out. I hope by sharing my story, I can connect with someone who can help me make a change and create a voice for caregivers.

LINKS & RESOURCES MENTIONED

https://globalgenes.org/event/rare-patient-advocacy-summit/

Mejo

https://www.mymejo.com/

The Caregiver Lawyer on Instagram

https://www.instagram.com/thecaregiverlawyer/channel/?hl=en

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

Effisode 050 - Global Genes RARE Disease Patient Advocacy Summit

A Rare Mama Bear - Being a Single Parent and Adopting a Rare Disease Child with Epidermolysis Bullosa Jun 30, 2022

Show notes

ONCE UPON A GENE - EPISODE 141

A Rare Mama Bear - Being a Single Parent and Adopting a Rare Disease Child with Epidermolysis Bullosa

Laura Dellicker is a hardworking mom who adopted a little boy named Salim four years ago. Salim has a rare disease called Epidermolysis Bullosa (EB). Laura shares her story of rare disease adoption and what inspired her decision.

EPISODE HIGHLIGHTS

Can you tell us about Salim?

My son Salim is 7 years old and he has two unrelated genetic conditions. I adopted Salim from India four years ago and I was aware of his primary diagnosis of Epidermolysis Bullosa, which means his skin doesn't adhere to his body.

What was your motivation to adopt Salim despite his rare disease?

I knew I wanted to adopt a child with EB after being involved in the ED world for 10 years prior after my friend's son was born with EB. Moreso, I knew Salim was my son and he just happened to be born on the other side of the world and I just did what I had to do to bring him home.

Where have you found support and community?

There is a wonderful adoptive community and I have a lot of friends who have adopted kids from India. We've managed to even stay in touch with some of Salim's friends from India. I do sometimes feel a little out of place because there's no one in the adoptive community with either of Salim's genetic conditions, and I've not found another parent who has adopted as a single parent in the rare disease community.

What wisdom do you have for others considering adopting a child with medical complexities?

Kids can look terrifying on paper, but they're so worth it. They mostly need love and family. It's worth it in the joy they have in experiencing the world. This isn't an easy road, but it's worth it and will force you to re-evaluate things and not take things for granted.

LINKS & RESOURCES MENTIONED

https://effieparks.com/podcast/effisode-050-global-genes-rare-disease-patient-advocacy-summit

https://globalgenes.org/event/rare-patient-advocacy-summit/

@teamsupersalim on Instagram

https://www.instagram.com/teamsupersalim/

TUNE INTO THE ONCE UPON A GENE PODCAST

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