ONCE UPON A GENE - EPISODE 211

The Juggle is Real - Navigating Parenthood and Rare Disease Leadership with Kim Nye and Mike Graglia

Rare disease parents and front line advocates, Kim Nye and Mike Graglia, join this episode for a discussion about the unseen struggles of rare disease parenthood and the delicate balance of operating an advocacy organization.

EPISODE HIGHLIGHTS

Kim, can you share your perspective on how much work it is to lead an advocacy organization and the impact it has on balancing your role as a parent?

At first, it seemed like something to do on the side, not a job or career, but a calling or a passion project. With so much emotion and heart behind it, it was easy to fool myself into doing the work a few hours a week, but it's actually running a small business. It very quickly became a full time job that really seeped into every moment of the day. Because there's so much passion driving it, I willingly do it by day and on the weekends. There's a level of guilt wondering if you're handling your home front well enough while fighting the battle for your community.

Mike, can you share your perspective on how much work it is to lead an advocacy organization and the impact it has on balancing your role as a parent?

In a single morning, I can go from a call with an investor in the morning, to a lab who needs money to keep working, to a mom who has just received a diagnosis, to a board member who wants to know why a project isn't done yet, to my own child who is screaming out for my attention. There are moments I wonder if I'm doing what's best for my child, going from a heavy intellectual endeavor to a moment where I question if I'm a good enough parent or spouse. The struggle is intense sometimes and there are days where your resources run low.

What key lessons have you learned along your journey and what advice do you have for others?

For new families, don't reinvent the wheel where you don't have to. Look for opportunities to collaborate with other groups. Think long term because your mindset when you receive a diagnosis and you're panicking is very different from reality of what's ahead.

How do you anticipate rare disease evolving from your contributions?

As frustrating as it is not having treatments for our children and communities, I think we are making progress and I can see the return on investment in terms of getting funding and watching the research grow. Progress is never fast enough for affected families, but we will see improvements and treatment options.

What is your advice for other foundation leaders and advocates who are trying to find balance in their dual role?

You'll be exhausted and have down moments, but then you're also going to meet the best people and rally and do great things. Protect your time and focus on what really matters, including your own family and your health. The work of the foundation will evolve and you're in this for life, so get out of panic mode and plan your time accordingly.

LINKS AND RESOURCES MENTIONED

Tess Research Foundation

https://www.tessresearch.org/

SynGAP Research Fund

https://curesyngap1.org/

ONCE UPON A GENE - EPISODE 041 - Time is Brain: SYNGAP Research Fund with Mike Graglia

https://effieparks.com/podcast/episode-41-syngap-research-fund

ONCE UPON A GENE - EPISODE 057 - SLC13A5 - TESS Research Foundation with Kim Nye

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

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

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

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ONCE UPON A GENE - EPISODE 210

GeneDX - A Genetic Diagnosis Matters with Gay Grossman and Paul Kruszka

If you're passionate about the evolving landscape of genetic testing, this episode is for you. Gay Grossman, Patient Advocacy & Engagement Lead, and Paul Kruszka, Chief Medical Officer, are a wealth of knowledge and bring so much experience, shedding light on the crucial work being done at GeneDX. 

EPISODE HIGHLIGHTS

What is the importance and benefits of genetic testing?

The most obvious benefit is knowing and understanding the why. Also, it's finding other individuals affected so you can get access to resources and support. Families can then come together to move treatment efforts forward. Without a diagnosis, you don't have a plan and you can get ahead of treatment options and treatment potential. 

What are the differences in the genetic panels and tests?

Panels are tests with a limited amount of genes— genes that are known to be associated with the condition you're looking for. Panels are obsolete almost as quickly as they're developed because new genes are associated with diseases and syndromes so often and so much can be missed. The advantage of using broader exome or genome testing is that it's always up-to-date with a higher likelihood of diagnosis. Genome testing is the more comprehensive test.

What is GeneDX doing to educate clinicians and reach families about WES test over a panel?

We have the resources and medical literature that supports using exome and genome testing. We have guidelines from the American College of Medical Genetics, the National Society of Genetic Counselors and The American Epilepsy Society. Everything is in our corner to decrease the diagnostic odyssey, but people are still using lesser testing. We do a lot of implementation science and education to get the message out there through our GeneDX Medical Science Liaison Team. This group goes out and educates clinicians, leads webinars and attends conferences. We also partner with advocacy groups to help test their community and find more patients. 

What is the insurance coverage for testing?

You're a customer of your insurance company, so you can call and ask why something wasn't covered if that's your experience. Request your certificate of benefits— the booklet that tells you what is covered. Read it and highlight what you may need so you are educated about what's covered and what's not and what the requirements are. 

What is your advice for families who have a long wait time for genetic testing?

You need to build your team with multiple clinicians. If you're hitting walls, add someone to your team, like a geneticist or other specialty. A specialist doesn't have to order testing, it can be your primary physician or pediatrician. Ask for support to get testing, access the resources from our website, print them and take them to your appointment and advocate for yourself to get genetic testing. 

LINKS AND RESOURCES MENTIONED

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

https://effieparks.com/podcast/episode-166-a-focus-on-patient-advocacy

Epilepsy Awareness Day at Disney

https://epilepsyawarenessday.org/

GeneDX Website

https://www.genedx.com/

GeneDX Billing Resources

https://www.genedx.com/provider-billing/

CONNECT WITH EFFIE PARKS

Website

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Twitter

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Instagram

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Built Ford Tough Facebook Group

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ONCE UPON A GENE - EPISODE 209

A Leap of Faith - Rare Disease Moms on the Bittersweet Joy of New Babies

I'm joined by two new, rare moms, Emily and Katie, to discuss the topic of having additional children after you've had a child with a rare disease. 

EPISODE HIGHLIGHTS

How did your experience with your first born children's genetic conditions shake your hopes and fears about having a second child? 

Once you connect with the rare disease world and learn about all of the rare disease possibilities, you know rare isn't so rare. The second pregnancy is different because you're aware of the chance that something can happen more than once and your eyes are open to the potential outcomes.

Does having the knowledge the second time take away from the joy?

It definitely does. We had genetic testing done on our second child and it was terrifying until we got results. Throughout the entire pregnancy, I didn't feel safe. 

Did you wish you had a typical experience and did you feel bad for feeling that way?

You expect challenges to happen again, and it's a self-preservation mentality, not wanting to set yourself up to be disappointed. I do feel guilty about wanting a typical parenting experience, but that's what everyone wants. That's not to say that you don't love and appreciate your parenting experience with your child who has disabilities. We don't want to see our children suffer and we don't want to suffer as parents. 

What is your best advice for families thinking about having another child?

It's important for parents to acknowledge all of their feelings and the complexities of their feelings. It's complicated, so reach out to other people you know who have been through it. Talking to others will help to solidify your decision to continue growing your family, despite how terrifying it might feel.  

CONNECT WITH KATIE

A Very Rare Adventure

https://averyrareadventure.com/

Instagram

https://www.instagram.com/averyrareadventure

CONNECT WITH EMILY

Instagram

https://www.instagram.com/emily_amerson_/

LINKS AND RESOURCES MENTIONED

ONCE UPON A GENE - EPISODE 151 - Rare Friends Forever - Hanging Out and Showing Some Love to Brene Brown with Katie Lloyd and Adam Johnson

https://effieparks.com/podcast/episode-151-rare-friends-forever

ONCE UPON A GENE - Episode 125 - A Very Rare and Very Real Adventure with DeSanto-Shinawi Syndrome Mom and Author of a Very Rare Adventure Katie Lloyd

https://effieparks.com/podcast/episode-125-katie-lloyd

ONCE UPON A GENE - EPISODE 205 - Mastering the Art of the Supermarket Answer When Someone Asks, How Are You with Jennifer Siedman

https://effieparks.com/podcast/episode-205-mastering-the-art-of-the-supermarket-answer

CONNECT WITH EFFIE PARKS

Website

https://effieparks.com/

Twitter

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Instagram

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Built Ford Tough Facebook Group

https://www.facebook.com/groups/1877643259173346/

Background Music Credits:

Title: Sensual Folk

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/

ONCE UPON A GENE - EPISODE 207

Breaking Barriers in Brain Health with Tracy Dixon-Salazar, PhD

For Epilepsy Awareness Month, I am joined by Tracy Dixon-Salazar, a rad scientist-mom and patient advocate. Her adult daughter Savannah was diagnosed with LGS as a child and in this episode, Tracy shares her best advice for advocating for your child and also the wisdom she's learned along the way if you're a parent with a new diagnosis. 

EPISODE HIGHLIGHTS

Can you share about yourself and your rare disease journey?

My daughter Savannah is 30 years old and she started having seizures when she was 2 years old, with no family history, no head injury and no explanation of what caused them. She had seizures everyday, up to hundreds on a bad day. She was diagnosed with epilepsy, which evolved into Lennox-Gastaut syndrome (LGS), a severe form of epilepsy. There wasn't a lot of information available when we received a diagnosis and it was really scary as we learned more about the disease. From the time Savannah was diagnosed at 5 years old to the time she turned 18 years old, she had more than 40,000 seizures and it seemed all I could do was count them. She tried and failed 26 different treatments and nothing worked. I wanted to end her suffering, so I enrolled in college and started taking science classes to better understand the medical papers I was reading. Then after about 12 years, I got my Ph.D. in developmental neuroscience. I went on to do post-op in neurogenetics which is when the genomic revolution happened. My job in the lab was to sequence exomes and my boss suggested that we sequence Savannah. It took a year of analyzing and we found that she has a lot of genetic mutations in her calcium signaling pathway and I knew there was something to it, which led us to a drug that's not used for epilepsy, but gave Savannah a 95% reduction in her seizures within two weeks. 

What is the importance of genetic testing for diseases under a larger umbrella disease?

It's critical to get genetic and genomic testing. Genetic testing is important especially if you aren't responding to the current treatments. Whole exome testing is becoming more affordable and a great place to start, but if you can get panel testing, do that because even if there's no available treatment, the panel may reveal other data that's helpful and you can help pioneer new treatment options. If you have unexplained rare disease, do not pass go, do not collect $200, go now and push to get genetic testing. 

What promising areas of research is the LGS Foundation funding that you believe can change the landscape of treatment?

We funded the first mouse model of Lennox-Gastaut syndrome, which replicates the brain waves. There are 7 FDA-approved drugs for LGS, none that target the electroencephalogram (EEG), they all target seizures. We are now targeting focused ultrasound in an animal model that replicates the brain waves of LGS. This is a non-invasive therapy we're using to see if we can prevent the evolution to abnormal brain waves. Additionally, we're funding research to quantify the LGS diagnosis through EEG. We also just launched the Learn form Every Patient Database, a natural history study.

LINKS AND RESOURCES MENTIONED

ONCE UPON A GENE - EPISODE 172 - From Cancer Biologist to Rare Disease Mom - Digging Into the Data to Better Understand SCN8A with Madeleine Oudin PhD - Professor of Biomedical Engineering at Tufts

https://effieparks.com/podcast/episode-172-digging-into-the-data-to-better-understand-scn8a-with-madeleine-oudin-phd

LGS Foundation Website

https://www.lgsfoundation.org/

LGS Foundation Facebook

https://www.facebook.com/lgsfoundation1

LGS Support Groups

https://www.lgsfoundation.org/get-connected-and-supported/online-communities/

LGS Learn From Every Patient Database

https://www.lgsfoundation.org/lgs-learn-from-every-patient-database/

Dante Labs

https://us.dantelabs.com/

ONCE UPON A GENE - EPISODE 205

Policy as a Pathway - Advocating for Rare Disease, Cri Du Chat, Disability and Palliative Care with Lindsey Topping-Schuetz

Lindsey Topping-Schuetz is a parent to seven-year-old Owen, who has cri-du-chat syndrome, also known as 5p-. Lindsey focuses her advocacy work on government policy and she joins me to share her tips and advice if you want to get involved in similar advocacy efforts. 

EPISODE HIGHLIGHTS

Can you tell us about yourself, your son Owen and where your rare disease journey started?

My husband and I have one son, Owen, who just turned seven and he's incredible! Everything about our parenting journey has been a surprise and nothing has gone as planned. Beginning at the 20 week ultrasound, there were red flags. At 27 weeks, my husband and I learned that Owen would be born with two genetic chromosomal abnormalities— cri-du-chat syndrome / 5p- and a micro-duplication on the 17th (q) arm. At the time of his diagnosis, he was only the second person known to have the duplication, so we were thrown into the rare disease world quickly. For the last 13 weeks of my pregnancy, we were given very little information, so we immediately researched how to best care for our child and what resources were available in our community to help him. 

What influenced your decision to take on the realm of policy in your advocacy work?

I felt like I had to, but I didn't have an interest or a background in it in the beginning and it was intimidating. With a prenatal diagnosis, I spent a lot of time before he was born and during his NICU stay making a roadmap for caring for Owen. A lot of that was learning about and leaning into the resources in our community. I was shocked when we were denied time and time again for resources and support, with no reason at all or a lack of waiver funds. I finally realized how broken the system was after a three year fight to get resources. I couldn't get what I needed for Owen because the laws weren't in place to protect him and I needed to prove that it was wrong, but also that it was against the law and prove why the law needed to be changed. 

If parents want to contribute their advocacy into policy, what are your recommendations to get started?

If you want to get involved, search for the people in your community who represent you. Most will be willing to meet with you or have a call and that's a good opportunity to plant a seed. Get involved with your local Arc chapter or other rare disease advocacy groups in your area. Take time to learn about people who are being put into a position of power and vote. 

LINKS AND RESOURCES MENTIONED

NeuroJourney

https://neurojourney.courageousparentsnetwork.org/

ONCE UPON A GENE - EPISODE 205 - Mastering the Art of the Supermarket Answer When Someone Asks, How Are You with Jennifer Siedman

https://effieparks.com/podcast/episode-205-mastering-the-art-of-the-supermarket-answer

ONCE UPON A GENE - EPISODE 059 - Palliative Care & Courageous Parents Network with Founder Blyth Lord

https://effieparks.com/podcast/episode-059-blyth-lord

ONCE UPON A GENE - Episode 123 - Figuring Out How to Infuse Meaning in the Days After the Loss of a Child

https://effieparks.com/podcast/episode-123-liz-morris

Courageous Parents Network 

https://courageousparentsnetwork.org/

The Arc

https://thearc.org/

NW Rare Disease Coalition

https://nwrare.org/

Dante Labs

https://us.dantelabs.com/

CONNECT WITH EFFIE PARKS

Website

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Twitter

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Instagram

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Built Ford Tough Facebook Group

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The Once Upon a Gene Merch Shop is open for pre-orders through December 6th. Check out the new products added to the shop before it’s too late!

Blyth Lord is the Founder of the nonprofit, Courageous Parents Network, an educational platform that orients, empowers and accompanies families caring for children with a serious illness. The mission and goals of Courageous Parents Network originated from Blyth's experience of parenting her daughter diagnosed with Tay-Sachs at 6 months old.

EPISODE HIGHLIGHTS

Can you share your background and tell us about your family?

My husband and I have three daughters. Our second daughter Cameron would be 22 now, but she died in 2001 at the age of two from a rare genetic condition, Tay-Sachs. She was diagnosed at 6 months old. She was diagnosed much earlier than what is typical because her cousin Hayden was diagnosed with Tay-Sachs when he was 18 months old. Because my husband is an identical twin with Hayden's father, I assumed he was also a carrier and that my daughter could also have Tay-Sachs. Upon testing, I was also a confirmed carrier and Cameron was diagnosed. Cameron's diagnosis with this rare, fatal disease continues to be a big part of our family story. My two surviving daughters and Hayden's two sisters understand that their siblings are a core part of our family. 

What part have Cameron and Hayden played in your family moving forward?

I focus on promoting the value of palliative care. There was no hope for treatment or therapy when Cameron and Hayden were diagnosed and the only care plan we had was a palliative care plan. It was devastating that there was nothing we could do to prolong their lives through experimental treatment or trials, but when palliative care is your only plan there's a lot of acceptance, peace and resolution. We had 18 months to come to terms with the prognosis and determine what we wanted for Cameron. From early on, we had to accept what was coming, but it meant that afterwards it was easier to focus on Cameron and Hayden's legacy and the meaning of their short, beautiful lives. 

Can you explain what palliative care is?

Hospice is end of life care, the tail end of palliative care. Palliative care focuses on quality of life for anyone living with a life-threatening condition. From the point of diagnosis on, palliative care is an appropriate addition to a care plan, delivered concurrently with curative treatments that treat, manage and potentially cure the condition. Palliative care is an extra layer of support which helps patients and caregivers make treatment decisions with quality of life in mind.

Did you seek out palliative care for your daughter?

What are the support services offered through Courageous Parents Network?

LINKS AND RESOURCES MENTIONED

Once Upon a Gene Channel with The Disorder Channel

https://www.thedisordercollection.com/

Once Upon a Gene Merch Shop

https://effieparks.com/merchshop

Courageous Parents Network

https://courageousparentsnetwork.org/

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ONCE UPON A GENE - EPISODE 123

Figuring Out How to Infuse Meaning in the Days After the Loss of a Child and the Daunting Task of What the Hell to do Now with Liz Morris

Liz Morris is a guest blogger on the Courageous Parents Network and a fellow Seattle rare mom who lost her son Colson to mitochondrial disease in 2020. 

EPISODE HIGHLIGHTS

In your most recent blog, you spoke about obligation and purpose. How has your obligation as Colson's mom and as his full time caregiver changed as a mom now who has a lot of time.

I loved being Colson's mom and thrived in the intense clarity of knowing how to care for him, keep him safe and advocate for him. I had other things to do, but it was all secondary to caring for Colson. Now that he's gone, I know how intensely and passionately I can focus on things and how meaningful that can be. Now that Colson is gone, my day can be dull and I'm trying to figure out how to direct the same level of energy and purpose into something useful, particularly for parents in the thick of caregiving. 

Have you experienced a fundamental transformation as a rare disease mom and then after losing Colson?

When Colson was alive, my world expanded and I learned a lot about non-normative ways of living and I learned of others living in those spaces. I've been trying to hold onto that expansive mindset. Grief will either crumble me, or this part of our story can expand my empathy, resilience and relationships. 

Do you still want to associate with other rare parents?

I want to stay connected to families in the rare disease community. When I spend time with friends with children like Colson, I feel close to him. I enjoy watching the community blossom and grow and seeing the level of support and care people have for each other. We started palliative care when Colson was 7 months old and I like to stay engaged and continue advocating for palliative care because it's a powerful and transformative resource. 

What's the difference between your grief when Colson was alive and your grief after he passed?

I had a lot of ambiguous grief when Colson was alive. I did a lot of active anticipatory grieving while he was alive, which helped me in the immediate aftermath of his death. I carried the grief I had before his death into the next phase of living without him. Palliative care really helped me through the decisions we made before he died. We feel that in the final moments when we had to make hard decisions, we were able to do so through an act of love, and our grief is mitigated in that we're not agonizing over our decisions. 

LINKS & RESOURCES MENTIONED

Rare and Relatable on Discord

https://discord.com/invite/7UFUPAFs8K

Liz Morris - Courageous Parents Network

https://courageousparentsnetwork.org/blog/author/liz-morris

TUNE INTO THE ONCE UPON A GENE PODCAST

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ONCE UPON A GENE - EPISODE 205

Mastering the Art of the Supermarket Answer When Someone Asks, How Are You with Jennifer Siedman

Jennifer Siedman is a relatable, rare mom who has a lot of experience with rare disease. She is the Director of Community Engagement at the Courageous Parents Network and joins us to share her approachable strategies for engaging with friends and acquaintances as a rare parent or caregiver.

EPISODE HIGHLIGHTS

What is the supermarket answer and what is the origin of it?

The questions we get out at the supermarket are often simple and common— like "How are you?", "How is your child?", "How can I help?" or "Do you want to grab dinner?". I would get a barrage of questions and comments from people I bumped into at the store and I would have to think each time how I would answer. It felt complicated and I created a strategy to help, called the supermarket answer. It's a mental list that I would go through in my head to determine if someone wanted and could handle the truth, or if they just wanted the supermarket answer. We live a life others find difficult to connect with and it makes us feel disconnected to give the supermarket response and state that everything is great when it's not. I found that because I became comfortable in the process of evaluating what someone was looking for in their question and, more importantly, comfortable with determining what I needed in that moment, I started asking people what answer they were looking for.

What is the strategy checklist?

Ask yourself: What am I up for emotionally? What is the other person up for emotionally? What truth do you feel like telling in that moment? Do you need to share a trial or triumph?

Are there situations where you feel more inclined to answer an honest and thorough answer over a supermarket answer?

If I go to a party where there are few people that would relate to my life, I often feel myself aligned with sharing only the supermarket answer. On the other hand, I find that I almost never give the supermarket answer when I'm within my disease organization or with other parents that understand me and they're able to receive my emotional baggage the same way I can receive theirs.

What is your advice for parents who are struggling to share their story?

It's your story to tell however you want to tell it and it will evolve over time. Owning it and knowing you can tell little truths or big truths, depending on the day, can be very empowering and make answering those uncomfortable questions more comfortable. Understanding your own capacity to hold your vulnerability will help you embrace your story and know when it's the right moment to let big truths out.

LINKS AND RESOURCES MENTIONED

ONCE UPON A GENE - Episode 114 - The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman

https://effieparks.com/podcast/episode-114-noah-siedman

ONCE UPON A GENE - Episode 109 - A Rare Collection - What I Know For Sure with Noah Siedman, Grayson Skibington and Nash Hawkins

https://effieparks.com/podcast/episode-109-what-i-know-for-sure

ONCE UPON A GENE - Episode 100 - A Rare Collection- Because of You with Kyle Bryant, Jennifer Siedman, Liz Morris and Ashley Fortney Point

https://effieparks.com/podcast/episode-100-rare-collection-because-of-you

Courageous Parents Network

https://courageousparentsnetwork.org/

Dante Labs

https://us.dantelabs.com/

CONNECT WITH JENNIFER

Email [email protected]

[email protected]

CONNECT WITH EFFIE PARKS

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ONCE UPON A GENE - EPISODE 204

From Heartbreak to Hope - With CEO of Parent Project Muscular Dystrophy, Pat Furlong

When doctors diagnosed her two sons, Christopher and Patrick, with Duchenne in 1984, Pat didn’t accept “there’s no hope and little help” as an answer. Pat immersed herself in Duchenne, working to understand the pathology of the disorder, the extent of research investment and the mechanisms for optimal care. Her sons lost their battle with Duchenne in their teenage years, but she continues to fight—in their honor and for all families affected by Duchenne.

EPISODE HIGHLIGHTS

How and when did you realize something was wrong?

While other children played energetically, her sons would engage in quieter activities like coloring. Initially, she believed she simply had well-mannered children. However, she soon realized that her children were hesitant to engage in certain physical activities, such as running. While other children played energetically, her sons would engage in quieter activities like coloring. Initially, she believed she simply had well-mannered children. However, she soon realized that her children were hesitant to engage in certain physical activities, such as running up and down stairs or jumping. Concerned, she sought advice from various individuals, including her physician husband and his colleagues. Despite her genuine worries, many dismissed her concerns, labeling her as an overly anxious mother. This dismissal set her on a path of determination to find out more about her children's condition

How did you begin?

The beginning of her journey was marked by a mix of determination and desperation. Shortly after receiving a diagnosis about her children, she took a bold step by borrowing $100,000 from the bank. In her mind, she believed this amount would be sufficient to find a cure for them. The figure, substantial for its time, might seem naive to professionals in the biopharma industry today. Eager to find solutions, she reached out to various laboratories that had limited data on the condition. However, when she introduced herself as a mother with two boys diagnosed with Duchenne, she was often turned away. 

The birth of a gene therapy

Today, DMD patients have been given new hope. The U.S. Food and Drug Administration (FDA) has approved Elevidys, the first gene therapy for DMD, for patients with the disease between the ages of 4 and 5 years old. This newly approved gene therapy delivers a copy of a gene that encodes a shortened, functional form of dystrophin, the gene that is mutated in DMD patients. Dystrophin is like a shock absorber for muscles, and without it, muscle deteriorates.

What can others do to further rare disease research?

For those seeking to advocate for a cause, a key strategy is to actively engage with congressional representatives, whether in the United States or elsewhere. It's advisable to frequently contact the offices of Senators or Congress people, introducing oneself and expressing what is important to them. This shouldn't be a one-time conversation but rather a consistent dialogue, akin to building a relationship.

LINKS AND RESOURCES MENTIONED

Parent Project Muscular Dystrophy

https://www.parentprojectmd.org/

PPMD's Decode Duchenne Genetic Testing Program

https://www.parentprojectmd.org/about-duchenne/decode-duchenne/

Dante Labs

https://us.dantelabs.com/

CONNECT WITH EFFIE PARKS

Website

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