Once Upon A Gene

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

Effisode - Adventures in the Grocery Store Apr 20, 2021

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Intro music by Scott Holmes

Media with a Mission with Believe Limited CEO Patrick James Lynch Apr 15, 2021

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Media with a Mission with Believe Limited CEO Patrick James Lynch

Patrick James Lynch has to inject himself with medication every other day because his liver doesn't produce a protein that helps his blood vessels seal when they burst. He and his brother were both born with hemophilia and he's since lost his brother to the disorder. After his loss, he felt compelled to reach others to provide support and awareness about the importance of life-sustaining medicine. Patrick is the founder and CEO of Believe Limited, he hosts camps, produces web series, creates workbooks and workshops, hosts the BloodStream podcast and has produced a film called Bombardier Blood.

LINKS AND RESOURCES MENTIONED

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Top Tips on Advocating For Your Child with Momvocate Kara Karlson Apr 08, 2021

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Kara Karlson is a fellow rare disease mama and attorney who is advocating hard in the policy world. She's currently serving on the Governor's Developmental Disability Advisory Council ("DDAC") where she helps set policy and develop programs for the developmentally disabled in Arizona. She is sharing her top tips for becoming your best advocate.

EPISODE HIGHLIGHTS

Tell me about your daughter and how you are part of the rare disease community.

I got involved with rare disease through my daughter. I had an uneventful pregnancy, everything was fine and she was born a healthy weight. Then she was having trouble eating and that got us started down a long road that eventually led to a diagnosis of mosaicism for multiple marker chromosomes. Originally my daughter was diagnosed with failure to thrive, had postcricoid cushion which was interfering with her feeding, and now she has autism, developmental delays and likely intellectual delays based on a duplicate marker chromosome from portions of 17P and 19. Outside of being a mother, I'm an attorney, so I'm a professional advocate and it's provided me a leg up on getting my daughter the care she needs.

Where do we start advocating?

Make sure you have an open line or communication with your providers. Know that they have an ethical obligation to explain things to you in a way that you can understand so that you know what questions to ask and be a strong advocate. If you're being sent home and you're not comfortable, be assertive and communicate that. Get a concrete diagnosis or as concrete as you can. Get specific, qualifying conditions identified so you can qualify your child for programs and services. There are measurements critical to getting care and ensuring therapy is working. Have benchmark measurements to monitor progress. Always obtain medical records so you have insight into the doctor's thoughts and takeaways. From these records, you can take the data and do your own research and you know what documents to include when applying to insurance, providers or state health agencies.

What are your thoughts on managing the financial aspects of medically complex kids?

There's usually a cash discount of 50% or more or a prompt payment discount, so ask for those options. The providers normally offer payment assistance, so if you're in a position of financial hardship, you can get in touch with a patient advocate at the hospital for assistance. The key is to stay in touch regarding medical expenses and document everything.

How do you ask for referrals?

If possible, it's best to ask other people you trust. If your child's condition is unique, reach out to other patient groups to see if anyone can refer you. If there's a long waitlist, get on multiple provider lists and seek out other options while you wait.

LINKS AND RESOURCES MENTIONED

Finding Happy The Podcast‬ - https://www.findinghappythepodcast.com/

Stronger Together - https://strongertogetherevent.com/

CONTACT KARA

Momvocate Website - https://momvocate.net/

Momvocate on Twitter - https://twitter.com/momvocate4lyfe

Movocate Email - Momvocate4Lyfe@gmail.com

Momvocate Blog - https://momvocate4lyfe.blogspot.com/

Effisode - Nacho, Nacho Man Apr 06, 2021

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Once Upon a Gene TV - YouTube

AllStripes - Jump Start New Research for Your Rare Disease with Caitlin Nichols Apr 01, 2021

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ONCE UPON A GENE - EPISODE 076

AllStripes: Jump Start New Research for Your Rare Disease with Caitlin Nichols

Caitlin Nichols is the Scientific Affairs and Research Manager at AllStripes— the first and only research platform dedicated to rare diseases. They make it easy for patients to contribute to new treatment studies from home. They do the work to collect, analyze and de-identify medical records to help power faster and better drug development. They translate medical data into actionable insights to unlock new treatments for rare disease.

LINKS AND RESOURCES MENTIONED

https://www.youtube.com/channel/UCYPzJqCJmStgR32T_5031tQ/featured

AllStripes Research

https://www.allstripes.com/

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Finding Happy The Podcast‬

Rare Mom Madeline Cheney - The Rare Life Podcast Mar 25, 2021

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Fellow rare mom and podcast host, Madeline Cheney, is joining me for a chat today. Be sure to check out her podcast, The Rare Life Podcast. And don't forget to subscribe!

EPISODE HIGHLIGHTS

Tell me about yourself and your family.

I am a stay at home mom to four-year-old Wendy, who is medically typical. Two year old Kimball has a very rare disorder. My husband and I live in Utah. When I'm not caring for my children, I devote my time to my podcast.

Tell me about Kimball's diagnosis.

Kimball has a rare genetic mutation called achondroplasia punctata x-linked type 1, which is a type of skeletal dysplasia with only 125 known cases in the world. The condition affects his bones, he's deaf and blind, has dwarfism, his spine is soft, has no nose bone and low muscle tone.

What aspect of Kimball's most recent challenges are you grieving?

My main source of grief is how much he has to suffer and how unfair it is. It loops me back to when he was first diagnosed. The unfairness of everything breaks my heart as I watch him go through the challenges he faces. It loops me back to the first and subsequent diagnoses and resurfaces some of the same feelings. I love him more and more each day, which makes this more and more painful.

How do you manage your stress and emotional wellbeing?

I've learned a lot from other parents and my therapist to feel grief and lean into it rather than suppress it or push it down. I've learned that it's easier to process things in the moment rather than process it later in the future and have to deal with it then.

What is the catalyst that makes you the mom that Kimball needs?

I'm better able to empathize in ways that I couldn't before and I understand the gravity of not being able to understand other people's experiences. Unlike my pursuit of being strong and trying to always portray that to others, I now know in the depth of my bones how strong I am because of the things I've gone through. That's my main evolution. Now with upcoming challenges with Kimball, even when I feel weak, I know I'll get through it and it's valuable to know that about myself.

What do you want to leave listeners with?

Competition and comparison makes any journey so much worse. Don't compare yourself or your situation and don't isolate yourself because of it. I encourage you to work on that if you struggle with it. Don't let that be a reason your don't share your story because sharing will help with healing and connecting with other people.

LINKS AND RESOURCES MENTIONED

https://www.findinghappythepodcast.com/

Stronger Together

https://strongertogetherevent.com/

The Rare Life Podcast

https://therarelifepodcast.com/

TUNE INTO THE ONCE UPON A GENE PODCAST

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https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347

Stitcher

https://www.stitcher.com/podcast/once-upon-a-gene

Overcast

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Lightning And Love on Instagram

Effisode - An Advocate's Elevator Pitch Mar 23, 2021

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Intro music by Scott Holmes

Rare Disease Mom Chat with Mariah Gillaspie - Lightning and Love Foundation Mar 18, 2021

Show notes

Mariah Gillaspie started the Lightning and Love Foundation for her two daughters, Abby and Emma, who both have the only known mutation of the fact THAP12 gene.

EPISODE HIGHLIGHTS

Tell us about yourself, your daughters and Lightning and Love.

I'm the mom to two ultra rare little girls, 4 year old Emma and 2 year old Emma. They both live with a genetic condition which is technically still un-diagnosed. I launched the Lightning and Love Foundation to further research into the gene and we're finding more and more evidence that the gene is the cause of their disease. They both have daily seizures, don't walk, talk, or have head control and are feeding tube dependent.

Why is it important for you to share your story?

Before I started the foundation, we were a private family and weren't involved much with social media. I want the world to know my girls for exactly who they are, want to push research and wanted fundraising support which gave me the push. As I started sharing, it opened my eyes to how amazing people are. A rare disease journey can be lonely and isolating, but putting my story out exposed me to a community of support. I want to be that support for others and I want the community to keep coming together to drive research for many other ultra rare diseases.

How have you worked through your grief and how does it still impact you?

It's been about coming to terms with what reality looks like, not walking around on eggshells, but knowing that something bad could or will happen. Within our family, we've formed our roles and it's become more routine when things happen and we function better in situations we can't control such as hospital stays. The grief has been hard and has consumed me many times. We have turned to laughter as a coping mechanism, we joke a lot and keep things light. We have an amazing support system between my mom and in-home nursing and other family. I can run away for a mommy day and my husband and I can have date night and maintain our sanity. I accept and live in the know about our unique life and embrace that we have a lot of love in our family.

How do you take care of yourself?

I try to take a bath in the evenings with a book and let the sound of the water calm my mind. Taking that time isolated behind a closed door helps me decompress.

How do you manage mom life and the foundation?

Balancing sometimes becomes the harder part. Jumping into the rare disease community was new and has been a different experience. My background is not in medicine, science, advocacy or fundraising and I'm learning everything from scratch and it's intimidating. It takes a lot of self-discipline and self-talk to feel like I'm able to achieve my goals.

CONNECT WITH MARIAH GILLASPIE

https://www.instagram.com/lightningandlove/?hl=en

Lightning And Love Foundation Website

https://www.lightningandlove.org/

Email Mariah

mailto:mariah@lightningandlove.org

LINKS AND RESOURCES MENTIONED

Lightning And Love on Instagram

https://www.instagram.com/lightningandlove/?hl=en

Lightning And Love Foundation Website

https://www.lightningandlove.org/

TESS Research Foundation

https://www.tessresearch.org/

EPISODE 057 - SLC13A5 - TESS Research Foundation with Kim Nye

https://effieparks.com/podcast/episode-057-slc13a5-tess-research-foundation-kim-nye

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The Disorder Channel

David Solomon - CEO of Pharnext - A Biopharmaceutical Company Mar 11, 2021

Show notes

Dr. David Solomon is the CEO of Pharnext, an advanced clinical-stage biopharmaceutical company using artificial intelligence to create therapies for rare and orphan diseases. Their first drug for Charcot-Marie-Tooth Disease (CMT1A) is in it's second pivotal Phase 3 trial. CMT1A is a rare genetic disorder of the nervous system with no current satisfactory treatment available. Dr. Solomon is committed to moving Pharnext's work on the CMT1A drug forward to bring solutions to the patients and families affected by the disease.

EPISODE HIGHLIGHTS

Share some background on your career and Pharnext.

I started my career in academia as a faculty member at Columbia University School of Medicine in Neurology Pharmacology and Biological Sciences. I'm now the CEO of Pharnext which excites me because of the strength in data of PXT3003, our lead medicine to treat Charcot-Marie-Tooth Disease, a rare genetic neurological disorder that causes sever impairment. Pharnext was established in 2007 and we're dedicated to getting PXT3003 approved.

What innovative approach led to finding a treatment for CMT1A?

The insight came from thinking about the genetics of the disease. CMT1A results from a defect and duplication of a gene called PMP22. The insight we had was to down-regulate PMP22 using a novel approach, maybe we could repair the defect and alleviate clinical disabilities experienced. We looked at the genetics of the disease, looking at a range of biochemical pathways that could be tweaked with medicine. PXT3003 is a fixed-dose combination of three medicines: baclofen, naltrexone and sorbitol. Together, these medicines bring unexpected and unanticipated results that help patients.

Explain how artificial intelligence and big data is being used.

We form a disease network around a specific disease. We look at the implicated genes of the disease, all the biochemical pathways affected and use a combination of genetic data and big data to analyze all the pathways and find which medicines in combination can improve outcomes of disease.

What are the strengths and weaknesses in using artificial intelligence for rare disease?

AI and big data are predictive tools, but they're only as good as the input into the systems. It's beginning to be a standard tool that can be used as another approach, but it's the novelty of ideas, innovation and determination of scientists and biotech companies that brings results. There's no substitute for great science.

Do you seek out patient registries and natural history studies with an abundance of patients involved and their data documented?

We first pick a disease where we think our platform can bring solutions. Then we look at the current therapies and if there are none, that's exciting for us. Finally we look at potential organized patient groups and reach out to them to see if they want to partner with us to provide access to patients or co-investing in early studies.

What are you most excited about for Pharnext?

I'm excited that we're launching our study and by launching we're going to get our medicine into patients and closer to an approval. In the future, we're interested to see if our platform can perform for a range of other diseases where there are no other therapies.

LINKS AND RESOURCES MENTIONED

https://www.thedisordercollection.com/

Pharnext

https://pharnext.com/en

Leave a voicemail

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