Rare Mamas Rising: A Rare Disease Mom Podcast

RARE MAMAS RISING- EPISODE 006

Raising Awareness with Cure SMA Advisory Committee Member & SMA Mom Advocate Mary McHale

In this special spinal muscular atrophy (SMA) awareness episode, SMA mom Mary McHale shares learnings from her 20+ years of being a rare disease parent, awareness builder, fundraiser, and advocate. Mary's son Danny was diagnosed with SMA at six months old, and Mary was told that he wouldn't see his first birthday. Today, Danny is a junior in college. Mary has become a fierce SMA advocate, having sat on the Cure SMA Board of Directors for twelve years and now serving on the Adults with SMA advisory committee. She's also an event leader who has raised over $2 million towards SMA research. In this episode, Mary gives insights into the significance of advocacy and awareness-building efforts, how parents can plug into disease organizations, and the importance of finding hope.

EPISODE HIGHLIGHTS

Can you give us some background on your family and your son Danny?

A neurologist looked at our happy gurgling baby and said, "sit down; he has a condition, it's terminal, and there is no hope." The doctor did give us some information about Cure SMA. We called them that day, and they said, "No, there is hope," and that was the turning point for us on this journey. I've learned you need to ask questions, challenge, and advocate. Learn the law, learn your child's rights, the systems, and the processes so that you can fight for them. Never accept no for an answer.

How did you decide to start building awareness and advocating?

I reached out to Cure SMA and got names and numbers of parents to talk to. I spent hours talking, learning, and tapping into everyone who could help. But it was really hard having to do it all on my own. There wasn't content available. The more I spoke to other people, the more I could feel that I was less alone and less rare. After that, I became the mom that people were referred to talk to. We can make a difference together, and you do that in community. I'm very proud that today all of this information about care protocols, the condition, and support is easily accessed on the Cure SMA website. I'm so proud to make this path easier for everyone.

What advice would you give to other parents about plugging into disease organizations and how to best work with organizations?

It will be your lifeline but do your research, make sure the organizations are legitimate. What is their main focus, how do they spend their money, and are they an organization that will help your child achieve the goals you want for them? Gain help from others. Be specific and tell them how they can help. Provide your community the facts about the progress you're making.

Can you talk about the importance of hope?

It's really been the hallmark of our journey; it's what's fueled us. What we learned was that hope fueled us, but anything else drained and destroyed us. So I do believe that you have to consciously focus on hope. I learned to take things day by day. Enjoy the good moments with your child.

LINKS & RESOURCES MENTIONED

Mary McHale

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

https://www.facebook.com/mary.diggins.mchale

Cure SMA

https://www.curesma.org/

Ionis

https://www.ionispharma.com/

CONNECT WITH NIKKI

Facebook

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Instagram

https://www.instagram.com/Rare_Mamas/

Website

https://raremamas.com/

Email

[email protected]

RARE MAMAS RISING - EPISODE 5

Lighting the Way with Once Upon Gene Podcast Host & Rare Mom Effie Parks

When Effie's son Ford was born with an extremely rare genetic condition called CTNNB1 syndrome, not only did she dive into the world of advocacy, but she launched the Once Upon a Gene podcast, a podcast that explores the world of raising children with disabilities and rare genetic disorders. Effie also hosts the Once Upon a Gene TV show on the Disorder Channel. In this episode, we discuss the challenges parents face on the rare disease road and Effie offers ideas and tips to light the way.

EPISODE HIGHLIGHTS

Can you tell us about your son Ford and tell us a bit of your story?

When Ford was born, he had a really low birth weight and feeding issues. After 3 months, our pediatrician said, "I'm worried about Ford; you need to take him to Children's." We heard words like failure to thrive, hypotonia, microcephaly, and we left with an NG tube. We got connected with a geneticist. They said it was CTNNB1, and there were 30 kids in the world with it.

How did your experience lead you to create the Once Upon a Gene podcast?

In the beginning, feeling like nobody knew what I was going through and feeling so isolated. I found some comfort in a couple of podcasts, The Two Disabled Dudes being my main one. I was so inspired by what they were doing, and I noticed it was healing me and relaxing me, and it was giving me so much hope. I was so incredibly thankful, and ultimately, I wanted to do the same thing for someone else. I knew it was a piece of my purpose.

What are some of the common challenges you hear people up against?

Self-care is such a big one. It can be confusing, intimidating, and overwhelming. I draw four oxygen tanks and put something in each one that I have to do each day, no matter what. I learned box breathing, and that was life-changing to learn. Check out Rose Reif, a therapist for people who have disabilities and their caregivers. She teaches that self-care is the small, consistent things that you make habits that you do every single day no matter what.

What is another pain point you hear from parents?

Feeling alone, feeling isolated, feeling misunderstood. That's when people start to look for books, podcasts, blogs, and following advocates to feel less alone. Find what makes you feel warm and gives you energy. Go find your people. We can't do this alone.

What about Inclusion? What tips do you have to help others include our children?

You have to create boundaries for yourself. It's a muscle that we have to work. We should come at it with the intention of grace and educating, and just being kind. I'm always trying to get Ford involved. There's a resource called the Friendship Circle that is all over the country, and I highly recommend it.

What other pain points?

We are talking about money a lot and how expensive our life is. The Disorder Channel and I just did an episode on the financial stuff. There are groups on Facebook in your neighborhood, and there are sites for parents like you who swap equipment or give away extra supplies or old equipment. I highly recommend finding those groups to take a little bit of the burden of paying for some of this stuff off your shoulders.

Any parting words to our listeners, mama to mama?

Accept all of your emotions. They're valid. Notice them. Work through them and let them go. Keep moving and find hope anywhere you can. Find whatever your purpose can be from this to help someone else. Once you can find a glimmer of hope, don't let go of it and find out what you can do with it because there is nothing that can stop a rare disease parent.

LINKS & RESOURCES MENTIONED

https://effieparks.com/

https://www.thedisordercollection.com/

https://rosereif.com/

https://www.friendshipcircle.org/

CONNECT WITH NIKKI

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https://www.facebook.com/RareMamas1/

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https://www.instagram.com/Rare_Mamas/

Website

https://raremamas.com/

Email

[email protected]

RARE MAMAS RISING - EPISODE 4

Best Case Scenarios with Special Education Community Advisory Committee Chair & Rare Mama Rachel Niemeyer-Sutherland

When Rachel's daughter Sophia was diagnosed with Anophthalmia, the absence of a fully formed eye in her right eye, and Microphthalmia or small eye in her left, Rachel left her opera performing career to care for Sophia. At the age of seven, Sophia received the genetic diagnosis of RARB, a gene alteration in her Retinoic Acid Receptor Beta gene. At that time, Sophia was the only known person in the world with her specific mutation. Since then, Rachel has learned how to work with both researchers and other rare parents to advance treatment options. Rachel is also the chair of one of California's largest school district's Special Education Community Advisory Committees. Rachel offers up ways to work with researchers, tips for collaborating with special education administrators, and how she's learned to focus on best-case scenarios.

EPISODE HIGHLIGHTS

Can you tell me about Sophia?

At two days old, I was told Sophia was blind and that her cognitive and motor functions would be limited. A few weeks later, it was confirmed that she had sight in one eye. A year later, we received a cerebral palsy diagnosis and eventually she was diagnosed with RARB. Sophia is now 13 years old, rides a horse, and walks with assistance.

Any advice about how to keep pushing for answers?

Journal and keep notes and data to give to doctors. Try your best to learn to speak the doctor's language and learn as much as you can about your child's diagnosis.

How do you move forward with a diagnosis where there aren't a lot of other known cases?

The first thing I did was research. The next thing I did was widen my network to potentially find other patients. I looked at papers published and connected with the authors. I posted on Facebook about Sophia's RARB diagnosis and my network continued to grow. When you begin connecting with others, share information and knowledge to refine the possibilities.

What have you learned about how to work with researchers?

I learned about the National Institutes of Health (NIH), learned how to submit to clinical trials, how to do research, and about repurposed medications. Global Genes was a huge resource, and they have a Rare Patient Advocacy Summit each year that is very helpful. In addition, I take notes and share them with researchers and doctors as giving them specifics is critical.

What is your role in your school district's Special Education Community Advisory Committee?

The Community Advisory Committee is made up of parents, educators, and community members who work collaboratively to improve programs, services, and communications for students with special needs. We discuss concerns, identify how to support parents, and advise the district and educational specialists.

What are some learnings for navigating special education?

Create a document that tells everything about your child and share this information. Go to your school district and ask for the organization that serves as the liaison between special education administration and parents and plug into that organization. Build a relationship with your child's case carrier.

What advice do you have for mothers who have a child with a newly diagnosed rare disease?

Breathe and realize that a diagnosis is a starting place. It's essential to have hope because you don't know what your child will be capable of. It's important to assess parameters and know the worst-case scenario, but always ask for the best-case scenario. Knowledge is power and will help you navigate through. No matter how bleak the situation, realize the possibilities. Never give up.

RESOURCES MENTIONED

Global Genes

https://globalgenes.org/

National Institutes of Health

https://www.nih.gov/

CONNECT WITH NIKKI

Facebook

https://www.facebook.com/RareMamas1/

Instagram

https://www.instagram.com/Rare_Mamas/

Website

https://raremamas.com/

Email

[email protected]

RARE MAMAS RISING - EPISODE 3

Happy, But Different with Boston Children's Epilepsy Center Coordinator & Rare Mom Colleen Gagnon

Colleen Gagnon is the Clinical Coordinator of the Epilepsy Center at Boston Children's Hospital, a nurse, and a rare disease mom herself. Her daughter Niamh was diagnosed with a rare genetic mutation of the brain called Subcortical Band Heterotopia. That diagnosis came with a myriad of other diagnoses, including epilepsy, cerebral palsy, and autism. In this episode, Colleen shares valuable insights from her perspective as both a medical professional and a mother. From the importance of allowing yourself to grieve your child's diagnosis to how parents can effectively collaborate with their child's care team and how life with a rare disease is often different but can be happy—Colleen shares it all!

EPISODE HIGHLIGHTS

How did you enter the world of rare disease?

My daughter was born prematurely at 34 weeks, was healthy but small. From the beginning, I had an instinct that something was different. She woke up fussy and crying and then began having seizures. The MRI results were shared with us at the hospital, and we found that Niamh had a brain malfunction called Subcortical Band Heterotopia.

What advice do you have for parents to effectively collaborate with their care team?

Find a good nurse because they can coordinate things and get things done for you. I always appreciate parents who are asking questions and want to know more as long as it's not adversarial, too intense, or confrontational when approaching the care team. Be an advocate, be honest, be open, and be transparent. Have a realistic sense that you don't have 24-hour access to your healthcare team, and they're doing their best to tend to everyone. I think many nurses and physicians go into this field because they do have a deep sense of wanting to help people and make a difference. So you're working with people who came into this field for that reason, so really, we're more allies.

What have you learned through parenting Niamh that has helped you professionally?

When your child has a chronic illness, challenging behaviors, and a significant intellectual disability, it's hard to talk about, and sometimes there's a stigma. I see parents struggle with it. I want to tell them that I know how you feel, it's okay, you're not alone. I can give those parents the advice that they need to be part of a group and community. They need that support. Because of my experiences, I have an extra sense of knowing what parents need and what I can offer.

What advice do you have for parents who have a new diagnosis?

Be patient, especially through therapies. Look at things over time instead of day-by-day to see improvements because they're not going to be instant. Don't give up on something too soon. Don't let your child's rare disease overtake your life. Find joy in your family, in your other children, and with your partner. Move on and find your place beyond the disease. You'll have great moments in life; it's not all sad. With patience and time, you'll find joy. You can lead a very happy life. It might look different, but it can still be happy.

CONNECT WITH NIKKI

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Website

https://raremamas.com/

Email

[email protected]

RARE MAMAS RISING - EPISODE 2

Mother's Day Episode with A Rare Mama's Mama

I once heard someone say that motherhood is the hardest thing they've ever done and the greatest privilege they've ever known. In this special Mother's Day episode we'll talk about the hardest things and the greatest privileges. My mother, Myrna Liepold, studied child development, is a trained counselor and she has many years of motherhood experience. She is a truly remarkable woman, a force of strength, a beacon of light and an extraordinary mother. From one rare mama to another, happy Mother's Day.

EPISODE HIGHLIGHTS

What mindset is important to have for motherhood?

A capable mindset because you're going to need to learn new things and realize that you are capable. Each day brings new opportunities for growth and learning a s a mother. It's an opportunity to think of the new possibilities that learning can bring.

What are the most important qualities you think are essential for motherhood?

Endurance and perseverance. Things are going to come up to throw you off balance and you'll be faced with challenges. You need to learn to persevere and be resilient to push through the pain and move forward. Patience with your child and yourself is important. You're human and you're learning, so don't beat yourself up when things go wrong. Give yourself some grace.

Can you talk about building a foundation of love?

Love makes a child feel secure in knowing that no matter what happens, they're loved. It provides comfort and warmth in the midst of whatever they experience and builds their confidence knowing they're heard and seen. Home is love.

What are the best things you can do to prepare your children for life?

Teaching them to handle the ups and downs- to enjoy life and how to handle hard times. There's going to be hardships and if you can instill the value of optimism and hard work, that's going to carry them through and will help them throughout their life.

How do you find hope?

Through my faith. I turn to scripture. I hope and expect that tomorrow will be a new day and that this too shall pass.

How do you maintain a sense of joy in hard times?

I think it's a choice. You can be frozen in pain and experiences or decide to move past the pain and be joyful. You have to feel the pain and face it, don't deny it. But then don't stay there. It's not healthy. Find a way to get up, move forward, find your sense of humor and joy despite the circumstances.

How have you maintained the woman you've wanted to be through motherhood?

It doesn't come easy and you have to struggle through it. It's important to remember that you can always start again even when you take a step back.

CONNECT WITH NIKKI

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Website

https://raremamas.com/

Email

[email protected]

RARE MAMAS RISING - EPISODE 001

The Sunshine in the Storm with Rare Cancer Mom & Advocate Stacey Walthers Naffah

Stacey Walthers Naffah is a rare mama of a daughter diagnosed with ewing's sarcoma, an extremely rare cancer with fewer than 1000 cases per year worldwide. Stacey has risen up from her daughter's difficult diagnosis to become a childhood cancer advocate and a Director of the Children's Wisconsin Foundation board.

EPISODE HIGHLIGHTS

How did your rare disease journey start?

Our story started when my daughter was 8 years old. She was complaining of pain in her calf and was having a hard time sleeping. The pediatrician referred us to a sport's medicine provider for two weeks of PT. Very soon into the PT, the pain worsened and began travelling up her leg, over her back and down the other leg. After two weeks, we had x-rays which showed a lightning bolt in her sacrum and we went on to have an MRI. We learned from the doctors that they saw a cancerous process occurring. She went through two challenging surgeries and confirmed she had a very rare cancer called ewing sarcoma.

How have you had to push beyond your fears and capabilities through this journey?

It's a series of instances, big and small. One instance that comes to mind is in the beginning when we were pushed to start treatment almost immediately while we were in a surgery to put my daughter's chemo port in. We thought we'd get the port placed, talk to our doctors to lay out the plan and have a couple weeks to regroup before we started treatment. During the port surgery, we had to decide on starting treatment right away. We moved straight from surgery recovery to cancer treatment. It was shocking and it left us wondering if we had made the right decision to start treatment right away or if we should have explored the clinical trial.

Where do you find hope?

One of the places I found the most hope was in the way my daughter looked at me. She looked at me like I knew what I was doing, with such hope in her eyes that I was going to figure this out. I found so much hope in my daughter's resilience and fighting spirit. My faith is also important to me and knowing there was something to be learned from the journey was powerful for me personally. Other families and other moms like me provided a lot of hope through hearing their stories and how they were evidence that I was capable of more than I thought I was. Honestly, I looked for hope wherever I could find it— the sunshine in the storm.

How are you using your experience to help other parents on similar journeys?

I think it's important and powerful to have one-on-one conversations, listening, to give advice and talk through the fears, concerns and lessons learned. I have an unbelievable network of people around me and we all help each other. We started a charity called the Sunshine Squad, which creates hospital room decorating kits and other fun things. We create drives and deliver the kits to Children's Hospital of Wisconsin, where my daughter was treated. Through advocacy, I was invited to be part of the Children's Wisconsin Foundation board and I'm really proud of the work being done.

What's the best piece of advice you have for a mom with a child who has been newly diagnosed with a rare disease?

Take a deep breath, center yourself and know that you're indeed capable of so much more than you think. Take help from others, articulate your needs, shield yourself from unproductive people and emotions and find your people. Focus on taking care of yourself so your own health doesn't suffer, both physical and mental wellness. Trust your gut- you know your kid.

LINKS & RESOURCES MENTIONED

The Sunshine Squad

https://www.thesunshinesquad.org/

Children's Wisconsin Foundation

https://giving.childrenswi.org/

CONNECT WITH NIKKI

Facebook

https://www.facebook.com/RareMamas1/

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Website

https://raremamas.com/

Email

[email protected]