Once Upon A Gene

Latest Episodes:

Care Team Prescription - The Importance of Clinical Pharmacists with Chase Palmer Dec 29, 2022

Show notes

ONCE UPON A GENE - EPISODE 167

Care Team Prescription - The Importance of Clinical Pharmacists with Chase Palmer

Chase Palmer is a pharmacist on the board of Alström Syndrome International. In rare disease, we need all the help we can get, and he's motivated and he's jumped right in to share his voice. He’s been dubbed the rare disease pharmacist– and I think it’s going to stick.

EPISODE HIGHLIGHTS

Can you introduce yourself and tell us how you became involved in rare disease as a pharmacist?

In 2020 I started working with a nonprofit called Alström Syndrome International. We work with persons living with Alström syndrome, which is a rare genetic disorder that affects almost every cell and organ in the body, starting with blindness and deafness and leading to major organ failure. I was approached by ASI to become a member of the board and began meeting with patients living with rare disorders. I've been trying to learn more and more as time goes on to hopefully treat and cure Alström syndrome and other rare disorders.

What does it mean to practice as a clinical pharmacist?

A clinical pharmacist is a hospital pharmacist or a pharmacist with a specialty. Some clinical pharmacists work in a specialization like cardio or infectious disease. They work with patients in a hospital, acute care setting or ambulatory care setting to monitor medications and understand side effects and interactions to provide the best quality of life possible.

What approach can pharmacists be in helping to manage the care of kids with rare disease?

For patients taking multiple medications, I think it's important to have a pharmacist on the care team who is monitoring drug interactions to ensure medications aren't negatively affecting organs and making sure they're safe and effective, making things better and not worse.

Do you have any advice for getting drugs covered by insurance companies?

Insurance can be a major barrier and they may require patients to try alternative medications first. If that happens, make sure the insurance company's preferred medication is going to have the same positive result and not have any interactions with other medications or side effects. Sometimes a doctor can submit a pre-authorization and get medications covered that way.

Do you recommend that patient advocacy groups connect with pharmacists as board consultants?

I think it's a good idea to have a pharmacist on the board and it can be really progressive and allows for multi-disciplinary care for rare diseases and genetic disorders. A pharmacist can help to manage medications, consult with other advocacy groups and other pharmacists and optimize care. I think they play an important role in moving rare disease forward and meeting the needs of patients.

LINKS & RESOURCES MENTIONED

Alström Syndrome International

https://www.alstrom.org/

Voices of the People - The Alström Syndrome Journey

https://vimeo.com/770936312

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Effisode - Rare Disease Day 2023 Dec 27, 2022

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Intro music by Scott Holmes

A Focus On Patient Advocacy - Participation In Research and the Importance of an Engaged Patient Advocacy Group with Wendy Kay Chung, MD Dec 22, 2022

Show notes

ONCE UPON A GENE - EPISODE 166

A Focus On Patient Advocacy - Participation In Research and the Importance of an Engaged Patient Advocacy Group with Wendy Kay Chung, MD

Dr. Wendy Kay Chung cares deeply about rare kids and has a profound purpose to make this world a better place. She talks with us about a lot of critical topics helpful for patient advocacy groups working to push things forward and getting things organized. You're going to learn a lot, so be sure to share this episode far and wide.

EPISODE HIGHLIGHTS

Can you introduce yourself?

I'm a medical geneticist- a doctor who takes care of people with rare genetic conditions. I also do research to try to provide answers and treatments for conditions we don't have answers or treatments for.

Can you tell us about Simons Searchlight?

Simons Searchlight is an infrastructure that supports individuals with about 178 different rare genetic neuro-developmental conditions. We're using science to come up with answers to give patients hope for the future. Information is distributed to researchers around the world- in academic libraries, laboratories, hospitals and companies working towards treatments. We're trying to make it easier for scientists to do good science and generate better tomorrows.

Can you clarify the importance of natural history studies for patient advocacy groups?

It's absolutely critical, especially if a group's condition is newer and the natural history isn't known. Natural history is how a condition evolves and changes over the life course without treatment or a cure. We do this because we need to know what things are like without a treatment and compare what happens with a treatment.

What can a family foundation do with no money to get pharma-ready?

Aggregate your community, get everyone together and stay together as one group. Leverage your power and work together with other resources. Find researchers to work with so they can also leverage some of their resources from federal agencies. Within the community, do an inventory of the parents' skillsets and think as a group how its best to divide and conquer.

LINKS & RESOURCES MENTIONED

Speak Up Talk Radio 2022 Positive Change Podcast Award Winners

https://www.speakuptalkradio.com/podcast-award-winners/

The Disorder Channel

https://www.thedisordercollection.com/

Simons Searchlight

https://www.simonssearchlight.org/

Guardian Study Nomination Form Request

wkc15@columbia.edu

NIH Clinical Trials

https://clinicaltrials.gov/

Simons Searchlight Studies

https://www.simonssearchlight.org/research/what-we-study/

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A Rare Collection - Holiday Cheer Dec 15, 2022

Show notes

ONCE UPON A GENE - EPISODE 165

A Rare Collection - Holiday Cheer

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

Jessica Johnson

I love holiday cookies, parties, and gift-giving, but my best source of holiday cheer is my son. He is the definition of festive and his excitement is infectious, inspiring feelings of cheer and joy. While he and I spent the day decorating our new Christmas tree, I was reminded of what's truly important during the holidays-- being with my family, seeing my son filled with pure joy and happiness despite his challenges. The holidays can bring about stress, anxiety and sadness for many families. For those families finding themselves in a hard season, remember you're not alone and it will get better. However small or insignificant, define your own holiday cheer.

Ed Gabler

Growing up, the holidays meant a real tree in the corner of the living room, tied to each wall so the cats wouldn't knock it over. My dad read 'Twas the Night Before Christmas to all of us kids and on New Year's Eve. After my children were born, my wife and I started new traditions. Now as a grandparent, we share traditions with our daughter's family, but it looks a little different. Our grandson Cole was diagnosed with SYNGAP1 and making holiday cheer has required some adaptations and improvising. Cole's mom and dad created traditions to include everyone. They focus on the small wins, the smiles and laughs Cole shares when he's happy or excited. Rare holiday cheer is special.

Anthony Royal

As far back as I can remember, the holidays have never been a joyous occasion for me. In South Carolina, the holidays were warm-- no fluffy, white snow or kids speeding downhill on sleds. As a kid with un-diagnosed ADHD and anxiety, having more family around meant more people around to be mad at me for something. I was never keen on Santa either. My wife goes all out on decorations with five Christmas trees in the house, lights, holidays signs and swag along the halls. My son also loves the holidays. He has CTNNB1 syndrome with symptoms that make life difficult for him, many of which have only added to my holiday depression in the past years. My son's excitement for the holidays has helped me to love them again. You could say my heart has grown three sizes since he was born.

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Effisode - Presents, Portraits and Beyond the Diagnosis Dec 13, 2022

Show notes

Intro music by Scott Holmes

The Clinical Pharmacist - Why They Are A VIP For Our Care Team and How We Can Get to Know Them - With NARS1 Rare Disease Mom - Rachel Heilmann Dec 08, 2022

Show notes

ONCE UPON A GENE - EPISODE 164

The Clinical Pharmacist - Why They Are A VIP For Our Care Team and How We Can Get to Know Them - With NARS1 Rare Disease Mom - Rachel Heilmann

Rachel Heilmann is a rare mom and founder of The Rory Belle Foundation, which was started in honor of her daughter who had NARS1. She's also a clinical pharmacist on a mission to make a difference for our kids and advocate for palliative care for rare families.

EPISODE HIGHLIGHTS

Can you tell us about yourself and your family?

In my past life, I was a clinical pharmacy specialist. My daughter Rory Belle was born in October 2019 and she was hospitalized for failure to thrive. She was 8 months old when she was diagnosed with NARS1. My daughter passed away in February 2021 from NARS1.

What is a clinical pharmacist?

A clinical pharmacist is someone who works alongside care providers to help improve the care for patients. I was residency trained after pharmacy school to gain extra skills and expertise to practice to my fullest potential and to work with physicians and nursing partners to administer care.

How do we as parents get you on our team?

Inquire to see if there is a clinical pharmacist or clinical pharmacy specialist available at your facility to refer you to so you can ask any questions you have.

When it comes to consent, what can be leveraged?

Consent is the golden seal of documentation when understanding your risks and benefits and providing protection for a prescriber and parents. I always tried to outline for the prescriber the benefit and risks of a medication for a patient to make conversations easier between the prescriber and the patient. As a parent, if you have documentation for drug repurposing, provide that data and ask the prescriber what the concerns are and open up the conversation so that you can balance benefits and risks. And if needed, ask if there's a clinical pharmacist available to add to the conversation.

How do we create awareness and make this a standard of care to have a clinical pharmacist on our team?

I think the first thing is to ask for the resource when you're at appointments. I'd like to see more legislative efforts. There are states that leverage their pharmacies to work under protocol that allows them to practice more freely. With the pipeline of therapies coming out, like gene therapy and repurposing with FDA labeling, these things need to be handled in a deliberate fashion. If you keep asking, people will start partnering.

What advice do you have for families?

The most important takeaways are not to take no for an answer and ask your doctor to connect you with a clinical pharmacy specialist if you need help pushing conversations forward.

LINKS & RESOURCES MENTIONED

The Rory Belle Foundation

https://www.therorybellefoundation.org/

Varient App

https://www.varientapp.com/

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How Far We've Come - A Look at the FOXG1 Research and Family Conference with Rare Mama and Co Founder Nicole Johnson Dec 01, 2022

Show notes

ONCE UPON A GENE - EPISODE 163

How Far We've Come - A Look at the FOXG1 Research and Family Conference with Rare Mama and Co Founder Nicole Johnson

FOXG1 Research Foundation Co-Founder and rare mom, Nicole Johnson, shares takeaways from the November FOXG1 Syndrome Science Symposium & Parents Conference.

EPISODE HIGHLIGHTS

Can you tell us about your daughter Josie and about starting the FOXG1 Foundation?

Josie is 11 years old and she is the cutest little girl. She's amazing in that she has FOXG1 syndrome and can't do much, and yet she's the happiest, most joyful little girl and I feel blessed to have her in my world. My mission is to give Josie and every child with FOXG1 syndrome the healthy life they deserve. On the diagnostic journey, I was blogging and that's how I met Nasha Fitter after her daughter was diagnosed. We teamed up with other FOXG1 parents across the world and formed the FOXG1 Research Foundation in 2017.

What were your top highlights and takeaways from the FOXG1 Syndrome Science Symposium & Parents Conference?

We hosted two conferences in one and the first was a science symposium where scientists from all over the world met privately in Florida to present their data. I couldn't believe how much science was underway. Seeing how far we've come on the science-front was really incredible, as was the promising data that was uncovered. It was clear that this isn't a job for the scientists involved-- they are invested in helping all children with FOXG1 to live a life without suffering. The parent's conference was a blend of clinicians, scientists and FOXG1 parents that all came together to learn from each other-- to connect, learn and inspire. There was a lot of information and a lot of inspiration.

What advice do you have for patient advocacy leaders in motivating their caregiver and patient population to better understand their disease, get involved and participate in fundraising?

There's a lot we want to say to parents to communicate the work that's being done to improve their children's lives, but it's a challenge because people see things quickly and go on about their day. My best advice is to let the work speak for you. For anyone starting or running a patient organization, it is hard to reach your whole community and convince your whole community to get involved, but the more work you do, the more parents will see the work that's being done.

What advice do you have for advocacy leaders who want to hold a conference?

If you're thinking about doing it, absolutely do it. We were able to get sponsors which allowed us to do a travel scholarship and that helped parents to come, removing the burden of cost. When we were deciding on a venue, we looked at where the majority of the families lived and chose a place that doubled as a vacation. I recommend choosing a vacation-type location that adds an extra level of enjoyment.

LINKS & RESOURCES MENTIONED

What is FOXG1 Syndrome? FOXG1 Foundation https://foxg1research.org/foxg1syndrome

ONCE UPON A GENE - Episode 094 - The 12 Commandments to guide you when you're starting a rare disease patient advocacy group with Nasha Fitter and Mike Graglia

https://effieparks.com/podcast/episode-094-mike-and-nasha

ONCE UPON A GENE - EPISODE 047 - Ciitizen - Take Control of Your Own Medical Records and Advance Research with Nasha Fitter

https://effieparks.com/podcast/episode-47-ciitizen-nasha-fitter

Ciitizen

https://www.ciitizen.com/

Josie's Journey Blog

https://josiedevin.blogspot.com/

Pam Skillman

https://foxg1research.org/resources

Nikki McIntosh

https://raremamas.com/

Dr. Allyson Berent

https://cureangelman.org/about-fast

Race to 100K

https://foxg1research.kindful.com/foxg1-awareness-2022

FOXG1 Research Foundation YouTube

https://www.youtube.com/@FOXG1Research/videos

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Effisode - Fire and Ice Nov 29, 2022

Show notes

Intro music by Scott Holmes

Your Career and Personal Life Collide - Senior Vice President, Head of Development and Safety of Alexion, AstraZeneca and Smith Magenis Rare Disease Dad Gianluca Pirozzi Nov 24, 2022

Show notes

ONCE UPON A GENE - EPISODE 162

Your Career and Personal Life Collide - Senior Vice President, Head of Development and Safety of Alexion, AstraZeneca and Smith Magenis Rare Disease Dad Gianluca Pirozzi

Gianluca Pirozzi is a dadvocate and Senior Vice President, Head of Development and Safety at Alexion, AstraZeneca. His daughter has Smith Magenis syndrome.

EPISODE HIGHLIGHTS

What is your connection to rare disease and how does it connect with your work?

My childhood best friend was diagnosed with a rare disease called Fanconi Anemia and he died at the age of 19. I saw the world through his eyes and I learned so much about life because of him. He is also the reason I studied medicine. Years later, my daughter was diagnosed with a rare disease called Smith Magenis. At the time I was in drug development and I changed my career to focus more on rare diseases.

What role do caregivers play in the rare disease patient journey and is their advocacy essential?

The caregiver plays a major role- they're the depository of knowledge and understanding of the disease. The caregiver best understands the impact of the disease on a patient's day-to-day life. Advocating through fundraising, organizing family conferences and participating in registries is important.

How has your perspective of pharma changed since becoming a rare dad?

Being in the pharma business, I know how expensive it is to run clinical studies and clinical research. As a caregiver, I defend access for as many patients as possible, but I also know that without a return of investment, there would be no research that leads to advancement or development of rare disease medicine.

What aspects of being a rare dad are you grateful for?

I'm grateful for being reminded everyday of what is truly important in life. When I see the struggles my daughter has with simple things, she also has gratitude and happiness when she succeeds with simple things.

What does it take to prepare for a family trip?

We have to think steps in advance, thinking about what time we will travel so we are planning around my daughter's best time of day. We talk to the doctor about medicine to help her relax and sleep. We bring her special bed and medical stroller and call the airline ahead of time to accommodate. It's a complicated process and we plan for challenges the best we can, bearing in mind that we will also have beautiful memories and everyone will have a good time.

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A Rare Collection - Beep, Beep, Beep Nov 17, 2022

Show notes

ONCE UPON A GENE - EPISODE 161

A Rare Collection - Beep Beep Beep

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

Brittany Stineman

Emergency vehicles headed towards us and the sound of the vehicles coming to save my child's life played on repeat. The tears were different this time. They were tears of joy, gratitude and hope. Nash was born with an ultra-rare genetic condition called SMARD1. He was 11 months old when he was diagnosed, with a life expectancy of only 13 months and there were no treatments. No option was not an option. We started a non-profit called SmashSMARD and we focused on developing a treatment for SMARD1. We celebrated Nash's third birthday in a major way. The same emergency responders who have saved his life on multiple occasions joined the birthday parade celebrating a milestone we never imagined we'd reach.

Matt Hay

In elementary school, the nurse conducted hearing tests in class. Each student took a turn wearing the headphones while the nurse turned several knobs, and each would raise a hand a dozen or so times to acknowledge they heard the beeps. When it was my turn, she only played a few beeps, or so I thought. Later in high school, I applied to the United States Military Academy. During the physical, the doctor played the familiar tones, scribbled some notes in my file and said the Army would be sending me a letter to explain what I needed to know. When the letter arrived, I learned that I failed my physical due to substandard auditory acuity and I wasn't qualified to serve in the Army. A few years into college, I could no longer hear well enough to use the phone. When I saw an audiologist, I was referred to a neurologist and MRI results revealed I had bilateral acoustic neuromas on my hearing nerves. I was diagnosed with Neurofibromatosis type 2 (NF2), a rare neurological disorder.

Erin Reoyo

Beep, beep, beep sounds the familiar driver of the garbage truck right outside my son's room. She looks for him in the window, but he's not there to wave and cheer as she picks up the bins. I know how much my son adores the garbage truck driver and it's clear she adores him too. She doesn't know he lives with a rare, catastrophic epilepsy called Dravet Syndrome. I've never shared my son's story with the driver. Perhaps I want to spare her the worry and grief that comes with caring for someone with Dravet Syndrome.

Amanda Griffith Atkins

When you were three years old, your backpack was bigger than you as you went up the steep stairs of the big yellow bus, off to your first day at preschool. Your school was equipped to care for kids with disabilities and you were safe with teachers that understood your disability. There was a lot to celebrate, but I lost something that day realizing our safe and quiet days at home were over. I waited eagerly at the end of the school day, listening for the beep-beep of the bus, and I ran out to take you into my arms. Can you believe it was ten years ago when you first stepped onto the bus? A lot has changed since then and you're nearly as tall as me now. Although your disability will never allow you to live on your own, the bus represents freedom and independence, taking you to your own world of friends, teachers and staff who love and celebrate you.

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