Once Upon A Gene

Latest Episodes:

SCN8A Rare Mom - The Inch Stone Project and DEE-P Connections - Creating Better Tools, Resources and Research for the Most Severely Affected Families with Gabi Conecker Jun 08, 2023

Show notes

ONCE UPON A GENE - EPISODE 190

SCN8A Rare Mom - The Inch Stone Project and DEE-P Connections - Creating Better Tools, Resources and Research for the Most Severely Affected Families with Gabi Conecker

Gabi Conecker is an incredible advocate who has worked in the rare disease space for over 10 years. She's accomplished a lot, all while caring for her for her son Elliot with SCN8A and a severe variant of epilepsy.

EPISODE HIGHLIGHTS

Where does your rare disease journey begin?

My son Elliot was diagnosed with SCN8A in 2014, and there were only about ten known cases in the world. We founded Wishes for Elliot as a way of doing something when nothing was being done. It has evolved into the International SCN8A Alliance and we are focused on research, advancing the field, providing resources and supporting families.

What is DEE and DEE-P?

Developmental and epileptic encephalopathies (DEEs), is a hard to control form of epilepsy that cannot be treated with the drugs currently on the market, accompanied by developmental delays and/or regression. Developmental Epileptic Encephalopathy-Project (DEE-P) was formed to break through the isolation families face while researching their children's symptoms and challenges, to facilitate connections and share critical resources with families facing similar challenges.

What is the Inchstone Project?

The Inchstone Project is a multidisciplinary group of consumers, stakeholders, researchers and clinicians collaborating to accelerate outcome measures development. We came together to address an unmet need and to identify and develop tools to measure patient response to therapies. Our goal is to release a survey soon around head control so we can begin measuring and capturing data. We will continue to test and adapt the tools in preparation for clinical trials.

How can parents and other patient advocacy groups get involved?

Visit our website and get in touch with me. For the Inchstone Project, we want to get as many families involved as possible so that when we're developing tools, your voice is heard and you can ensure your child is included.

LINKS & RESOURCES MENTIONED

2023 CTNNB1 Natural History Study, Family Meeting, and Research Conference

https://www.curectnnb1.org/research/research-conference/

Wishes for Elliot

https://www.wishesforelliott.com/

International SCN8A Alliance

https://scn8aalliance.org/

SCN8A Unraveled

https://scn8aalliance.org/scn8a-unraveled/

DEE-P Connections

https://deepconnections.net/resource-center-main/

Inchstone Project

https://deepconnections.net/inchstone-project/

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Developing Personalized Therapeutics for Ultra Rare Patients with La Jolla Labs CEO Jeff Milton Jun 01, 2023

Show notes

ONCE UPON A GENE - EPISODE 189

Developing Personalized Therapeutics for Ultra Rare Patients with La Jolla Labs CEO Jeff Milton

Jeff Milton is the CEO of La Jolla Labs, a cutting edge RNA therapeutics company that's developing personalized therapeutics for ultra-rare patients. They combine AI, next generation sequencing and RNA biology to generate therapeutics faster.

EPISODE HIGHLIGHTS

Can you tell us about yourself and the work you're doing?

I've been in RNA therapeutics for 15 years. I took the opportunity to lead La Jolla Labs as CEO. We are taking the lab that was previously locked behind the doors of pharmaceutical companies and making it accessible to anyone in the world. We work directly with foundations and academic groups. We have partnered with n-Lorem Foundation to discover personalized ASO medicines for nano-rare patients.

How are groups taking control over drug discovery?

Parents and foundation leaders are accessing data and they're extremely motivated to learn. We provide the first step for them to determine their target and what can be done. We look at the targets and provide several options for them to research and discuss with their scientific liaisons. The cost of discovery is going down and more and more people are going to take control of the discovery.

Do the patient advocacy groups that come to you have a lot of money?

No, they don't. Most of the groups come to us and we design a plan for their target and disease for free. They take it and build a proposal around it. We are an incubator in that we take the targets, apply models and give it back to them to raise money for the screenings.

How does AI play a role in driving rare disease?

Artificial Intelligence will continue to be powerful, but access to data is the key to driving it. It takes a lot of structured data, so AI will eventually work, but there's not enough data right now. But there are things you can do right now like predicting activity for RNA, predict liver toxicity or cell activity in a rodent model. Eventually there will be enough data to link the clinical side to the early discovery side.

What can parents and patient advocacy groups do to make it more efficient to access data?

Clinical trials are expensive and pharmaceutical companies are resistant to doing it. If you can provide a lot of natural history data to use as their control group, that drastically lowers the cost. Being able to curate and organize that data within a foundation is hugely impactful.

LINKS & RESOURCES MENTIONED

La Jolla Labs

https://www.lajollalabs.com/

Ionis Pharmaceuticals

https://www.ionispharma.com/

n-Lorem

https://www.nlorem.org/

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How Being a Mom to Twins with a Rare and Undiagnosed Condition Has Shaped Rare Mom, Scientist and Co-Founder of the MAST Genes Research Foundation with Dr. Kim Aldinger May 25, 2023

Show notes

ONCE UPON A GENE - EPISODE 188

How Being a Mom to Twins with a Rare and Undiagnosed Condition Has Shaped Rare Mom, Scientist and Co-Founder of the MAST Genes Research Foundation with Dr. Kim Aldinger

Dr. Kim Aldinger is a Seattle Children's scientist that studies how genes influence brain development and how those processes malfunction to cause neurodevelopmental disorders. She's also a mom to rare twins, Chloe and Grayson.

EPISODE HIGHLIGHTS

Tell us about your twins, Chloe and Grayson.

They are seven years old, fraternal twins, but wildly different. I had a surprise twin pregnancy and they were born early. Both were in the NICU, but Grayson had some lingering concerns like a low grade temperature and fussiness. He began having seizures, going into status epilepticus, and he was on a lot of medication and machines for breathing support. Chloe didn't have signs of symptoms like Grayson, but as a twin, she had a brain MRI and they found evidence of an intraventricular hemorrhage.

What diagnosis did you receive from whole exome sequencing?

We had whole exome sequencing because we thought there was a biochemical event that had initiated the seizures Grayson was experiencing. The testing came back negative, but part of what I do professionally is analyze exome sequencing, so I requested the data from the report and I didn't see anything that explained what was causing his seizures. When he was three years old, Grayson's sequencing results were re-evalutated. MAST4, associated with a brain disorder, was reported to be of uncertain significance based on literature that linked MAST4 to epilepsy.

You're changing the focus of your scientific studies. Can you talk about that?

My background is in brain development and genetics and I've mostly spent my time in a human genetics lab. Part of what I do is look at genes and figure out how they are or are not working and how that impacts brain development, specifically the cerebellum, which is responsible for motor coordination and sensory integration. The MAST4 gene isn't related to the cerebellum region, so through research to learn more, a project was born. Thanks to the American Epilepsy Society, we received a small grant to work more on the MAST4 research work.

CONNECT WITH KIM

Twitter

https://twitter.com/kaaldinger?lang=en

Email

kimberly.aldinger@seattlechildrens.org

LINKS & RESOURCES MENTIONED

CTNNB1 Connect and Cure Conference

https://www.curectnnb1.org/

COMBINEDBrain

https://combinedbrain.org/

American Epilepsy Society

https://aesnet.org/

MAST Genes Research Foundation

https://mastgenes.org/

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Effisode - Are We The Actors May 23, 2023

Show notes

Intro Music Credits:

Title: Storybook

Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music

Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music

Licence: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

A Rare Collection - Keep Digging May 18, 2023

Show notes

ONCE UPON A GENE - EPISODE 187

A Rare Collection - Keep Digging

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

Angela, Mom to Yiannis with IRF2BPL, a neurodegenerative disorder

When Yiannis was born on a Saturday evening in July 2020, we knew immediately that something wasn't right. He was whisked away to the NICU and nobody could tell us what was happening. Yiannis was in the NICU for more than two weeks without answers. After 18 months, a neurologist started to piece the puzzle together. Through whole exome sequencing, we found Yiannis had two ultra rare fatal progressive neurodegenerative disorders, IRF2BPL and LSM1. We started a foundation, Yellow for Yiannis, to be a leading resource forIRF2BPL funding and for the support of other families that are enduring this disease.

Katie, Mom to Beau with KIF1A, a neurodegenerative disorder

On December 17th, 2021, just shy of a month after his second birthday, our son was diagnosed with KIF1A, a super rare genetic condition that affects about 400 people in the world. We had a healthy, happy pregnancy leading to a pretty uncomplicated birth. Beau met all of his milestones and he was a healthy baby. When discrepancies in his communication, social skills, gross motor and fine motor skills developed, Beau was diagnosed with KIF1A through genetic testing. I encourage any parents who don't feel okay with a diagnosis to keep digging and keep pushing for the safety of your child.

Dana, Sister to Jason and Sean with BCAP31

After years of genetic testing, it was revealed that my brothers Jason, age 21, and Sean, age 18, were both missing six pairs of their x chromosome. There's no cure for what my brothers have. They're the oldest documented case and most families I've met since have received a diagnosis for their kids around 3 years old. It was at that age when my mom noticed that Jason wasn't hitting his milestones.

Kelly, Mom to Emma with dopamine transporter deficiency syndrome (DTDS)

When my daughter was 2 months old, I started noticing she was missing milestones. I sought out a complex care pediatrician who started running tests and lab work. Emma received a cerebral palsy diagnosis, but I couldn't accept this diagnosis and sought out other opinions. After a genetic panel on neurotransmitters a genetic counselor revealed the real diagnosis- dopamine transporter deficiency syndrome. Had we settled for the CP diagnosis, we wouldn't have known that our daughter's life expectancy was only late adolescence or that a gene therapy clinical trial will be available.

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The Tréxō Robot and the Many Benefits of this Technology for Kids with Disabilities with the Founder and CEO Manmeet Maggu May 11, 2023

Show notes

ONCE UPON A GENE - EPISODE 186

The Tréxō Robot and the Many Benefits of this Technology for Kids with Disabilities with the Founder and CEO Manmeet Maggu

Manmeet Maggu is the Founder & CEO of Tréxō Robotics. Manmeet’s commitment to helping children with cerebral palsy walk drove the vision for Tréxō. An engineer and MBA by training, Manmeet has previously worked in several technical and project management roles before inventing a device called Tréxō, a robotic walker used in therapy programs. He joins me on this episode for a deep dive into the device.

EPISODE HIGHLIGHTS

What is the origin of your vision for the Tréxō device?

I have a background in robotics, but the history of Tréxō begins when I found out my nephew was diagnosed with cerebral palsy and learned he wouldn't be able to walk. I convinced my friends to help build a prototype for my nephew to help him walk. We worked hard, flew the device to India to try it with my nephew and it didn't work. We made a few more changes and tried again and it allowed him to take a few steps, which proved technology could be a bridge to improving access in his life. Other families started inquiring about getting a Tréxō for their child and that's when the company was born, with the goal of enabling walking for any child that wished to do so.

How does the Tréxō work?

The Tréxō is designed around an existing walker called a Rifton Dynamic Pacer. The Rifton is the base support structure and we design the robotic legs that attach onto the Rifton. The Rifton provides support and the legs provide the power to walk. Full control is in the hands of the parent or caretaker, operated by a tablet interface. There are different modes for each child's needs and abilities. Sensors on the device detect the user's initiation, if they're helping or resisting and where in the gait they're helping. There are a lot of features built into the system which allows for the maximum potential benefit from physical therapy, walking and exercise.

How do families obtain a Tréxō for home use?

If you want to buy the Tréxō, it costs $35K-$40K, but it can also be leased for around $1K per month on a 12 month lease. Many families use fundraisers, grants or Make-A-Wish. We are starting to get some insurance coverage as well. Families can look at the fundraising and grant resources on our website.

LINKS & RESOURCES MENTIONED

Fundraising and Grant Resources

https://www.trexorobotics.com/category/resources/

Tréxō Robotics Website

https://www.trexorobotics.com/

Wish-to-Walk

https://www.trexorobotics.com/make-a-wish-and-trexo-robotics/

Find a clinical location with a Tréxō

https://www.trexorobotics.com/trexo-locations/

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The Outlet - How Chris Anselmo Used Writing to Connect with Other Rare Disease Families and Come to Terms with His Own Diagnosis of Limb-Girdle Muscular Dystrophy May 04, 2023

Show notes

ONCE UPON A GENE - EPISODE 185

The Outlet - How Chris Anselmo Used Writing to Connect with Other Rare Disease Families and Come to Terms with His Own Diagnosis of Limb-Girdle Muscular Dystrophy

Chris Anselmo is an avid writer and communicator living with Limb-Girdle Muscular Dystrophy, which has undoubtedly contributed to how adaptable, resilient and compassionate he is.

EPISODE HIGHLIGHTS

What has your diagnosis journey been like since the onset of symptoms?

I have Limb-Girdle Muscular Dystrophy Type 2B and I was diagnosed at 18 years old as a result of a car accident my senior year of high school. I was getting ready to be discharged from the hospital when a doctor said routine blood work revealed my creatine kinase levels were elevated and they thought I may have suffered an internal injury they weren't aware of. With more x-rays, they couldn't find anything internally, but they sent me for further testing. I was eventually diagnosed with Dysferlinopathy, was told I wouldn't have any symptoms and that I would be fine so long as I didn't do anything incredibly strenuous. A few years later, I started developing symptoms and began to think it was the disease I had been diagnosed with years before. I saw a neurologist and received confirmation that the disease was progressing earlier than expected.

How did the reality of your diagnosis impact you?

I expected the symptoms to come much later in life, not when they did. It was a lot to handle the magnitude of the diagnosis and also the time of life that I was in, in my early twenties, living with college friends. I could imagine my friends advancing in life and their careers, getting married and having kids, buying homes and traveling, and my day-to-day was consumed with abilities I was losing. I didn't reach out for help and I should have. I didn't handle it well and I wasn't the best version of myself. I was in a dark place and felt frustrated, jealous and stuck.

What helped to change your perspective and help you connect with community?

Writing for me is like what exercise is for others. It was the outlet I needed and it had become something that has helped me to process my emotions. Writing became therapy and also helped people close to me to understand what I was going through, more honestly than what I would share in conversation. What I went through was traumatic and difficult and it was important to have an outlet, to understand what was happening in a way that allowed me to take control and share my story. Writing has also helped me to connect with other people who I have things in common with.

LINKS & RESOURCES MENTIONED

ONCE UPON A GENE - EPISODE 183 - Wishing Well

https://effieparks.com/podcast/episode-183-wishing-well

Born a Hero Foundation

https://www.bornahero.org/

Rare Disease Fair

https://rarediseasefair.com/

The Muscular Dystrophy Association

https://www.mda.org/

Rare Disease Dadvocate Blog

https://rarediseasedad.com/

Sidewalks and Stairwells

https://sidewalksandstairwells.com/

Hello, Adversity

https://helloadversity.substack.com/

To the Boy Who Stared at Me After I Fell on My Crutches - The Mighty

https://themighty.com/topic/dysferlinopathy/to-the-boy-who-stared-at-me-after-i-fell-on-my-crutches/

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A Rare Collection - Wishing Well Apr 20, 2023

Show notes

ONCE UPON A GENE - EPISODE 183

A Rare Collection - Wishing Well

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

Wendy Erler

It's my privilege to work in patient advocacy within the rare disease community. The people who have come into my life have impacted me, people have opened their hearts and shared vulnerable moments, fears and wishes. Over the last 20 years, my work has immersed me in rigorous science, clinical research, data and people driven to help patients and find treatments for rare diseases. But it's the families and parents who have fueled me to do more and champion their voices everyday. A wishing well is a term from European folklore, describing wells where spoken wishes are granted. When I asked an 11 year old boy, who lost his ability to walk, what he wished for, he wished to hold a spoon and feed himself so his mom could eat her own dinner. The power of wishing is fundamental in the rare disease community and we can all learn from the families that have boundless optimism and resilience.

Tom D’Amato

I work in patient advocacy and I'm a rare dad. The rare journey has been isolating, confusing and has led to some dark days. I found through therapy and working in the rare disease community that you can control your reactions and response in emergency mode. You can control how you care for yourself, your child and your spouse. I wish to never forget to never forget the beauty that comes from this journey. As I stand in front of the wishing well, reflecting on my wish for my family and the rest of the rare disease community, I wish to embrace the strength, wisdom and happiness that comes from this journey.

Sophia Cacciatore

I have the best job in the world where I get to meet the most incredible people with the fiercest minds and hearts. I get to build bridges and break down walls to make a little magic. I'm a space-maker. Just like Snow White singing in the wishing well, I will always be an echoing voice for families. I will echo all of your wishes until they roar so loudly that your wishes are answered.

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Effisode - The Ultimate Rare Disease Resource Guide Apr 18, 2023

Show notes

Intro Music:

Title: Storybook

Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music

Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music

Licence: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

Doctor and Rare Disease Dad Is On A Mission to Accelerate Research and Drug Development Efforts for His Childs KCNT1 Epilepsy with Dadvocate Dr. Justin West Apr 14, 2023

Show notes

ONCE UPON A GENE - EPISODE 182

Doctor and Rare Disease Dad Is On A Mission to Accelerate Research and Drug Development Efforts for His Child's KCNT1 Epilepsy with Dadvocate Dr. Justin West

Dadvocate Dr. Justin West is the father to Andrew, who has a devastating disease called KCNT1, a rare infant-onset seizure disorder. Justin serves as President and Co-Founder of the KCNT1 Epilepsy Foundation.

EPISODE HIGHLIGHTS

How has your work been impacted since Andrew's diagnosis?

Surgeons tend to be problem solvers and we like definitive, quick solutions we can act fast on. I realized I couldn't carry the same emotional weight for my patients that I did before my son's diagnosis. It was hard to give my energy to patients and have any left when I got home. I went through some career changes to preserve more energy for my family.

What is the goal for Andrew's disease?

Andrew is almost 6 years old and I can't explain the pain of never hearing his voice or seeing him walk. I would consider it a failure if I didn't see him walk, talk or both at some point. I'm driven towards this goal everyday for him, me and my wife and other children too. Meanwhile, I'll be doing everything I can to help Andrew have the best life.

What is the value in families contributing and sharing their experience through surveys?

We have to communicate every story, which varies from family to family. Everyone's perspective and experience is different, and this is a way for families to directly advocate for the patient and themselves. Sharing through surveys gives organizations key information to identify a group of patients and whether or not they have enough people to participate in a trial. Drug companies have to be interested and know that enough patients will try it. If not enough of a patient community is engaged in that process, no treatment advances are made. Spending the time to contribute data has the potential to help everyone in the future and it's the biggest gift any parent can give their sick children, healthy children, themselves and their community.

LINKS & RESOURCES MENTIONED

KCNT1 Epilepsy Foundation

https://kcnt1epilepsy.org/

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