RARE MAMAS RISING- EPISODE 013

10 Minutes with a Rare Mama

Catherine Oh - Congenital Nephrotic Syndrome Mom

Introducing "10 Minutes with a Rare Mama!"

"10 Minutes with a Rare Mama" is a bite-size serving of all the warm, nourishing goodness you love about Rare Mamas Rising—learning from each other, uplifting one another, and walking away feeling empowered. Each episode is filled with hearty ingredients to help you grow! But let's be honest, sometimes mama ain't got time for a full meal! So,"10 Minutes with a Rare Mama" is meant to give you an easily-digestible, snack-sized episode that can actually FIT into your day! In this episode, we hear from Catherine Oh, a veteran Rare Mama whose son Shawn is now a teenager living with an extremely rare variation of congenital nephrotic syndrome. Catherine highlights all the major life events that unfolded at the same time as Shawn's diagnosis, how she embraced life post-diagnosis, what she's learned about herself, where she finds hope, and her best piece of advice to other rare mamas. Check out this episode and grab a splash of inspiration, a little helping of hope, and a bite of bravery to get you through your day. This episode will fill you up in the best possible way!

LINKS & RESOURCES MENTIONED

Catherine Oh

www.catherineoh.com

[email protected]

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 012

The Passion Behind, Behind the Mystery with Co-Creator & Rare Mom Carri Levy & Writer/Producer Brittany Cocilova

Carri Levy had been chasing a diagnosis for her daughter Ilana for years when she found The National Organization for Rare Disorders (NORD) and learned over 7,000 rare diseases exist. Carri's colleague Molly Mager's life was also impacted by a rare disease when her twin brother was diagnosed with Acinar Cell Cystadenoma, a rare pancreatic tumor. On a quest to find a diagnosis for Ilana and bring more awareness to rare diseases, Carri and Molly pitched an idea for a short series on rare and genetic diseases. What started as a six-part series has turned into a recurring segment airing on Lifetime TV's morning show The Balancing Act. Brittany Cocilova joined the show as the writer/producer/director for the series. Her own personal health struggles have enabled her to relate to patients to help them tell their captivating and emotional stories. With over 100 segments to date, Behind the Mystery has been a lighthouse for rare patients and their families, helping them get a diagnosis or learn more about their disease, find specialists, tertiary centers, clinical trials, organizations, community, and more. In this episode of Rare Mamas Rising, Carri and Brittany share their inspiring personal stories, their dedication to making the show, and why they decided to dedicate the 2022 Behind the Mystery Rare Disease Day Special to rare moms. Take a listen and hear the passion behind, Behind the Mystery.

EPISODE HIGHLIGHTS

• Carri's story navigating an undiagnosed illness for her daughter Ilana until eventually receiving the diagnoses of primary immune deficiency disease, dysautonomia, and postural orthostatic tachycardia syndrome (POTS)

• Carri's continual pursuit of a diagnosis for Ilana's unanswered symptoms
• Ilana's book Surviving and Thriving with an Invisible Chronic Illness
• Brittany's health struggles including undergoing two kidney transplants
• The purpose Brittany's found working on the show
• The meaningful reason for creating Behind the Mystery and goals for the show's future

• The powerful connections that have been made for rare patients as a result of the show
• Collaborations with partners and organizations and their investment into improving the lives of rare patients
• Ways patients and caregivers can help spread rare awareness
• Advice and learnings for patients and parents navigating a rare disease diagnosis
• Highlights from The 2022 Rare Disease Day Special featuring Tracy Dixon Salazar, Caroline Cheung-Yiu, Nikki McIntosh, and The National Organization for Rare Disorders (NORD

LINKS & RESOURCES MENTIONED

Behind the Mystery

TheBalancingAct.com/rare

https://www.instagram.com/behind_the_mystery

https://twitter.com/btmcaresforrare

https://www.linkedin.com/company/behind-the-mystery/

The Balancing Act

https://www.instagram.com/balancingacttv/

https://twitter.com/BalancingActTV

https://www.facebook.com/TheBalancingActFans

Carri Levy

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

Brittany Cocilova

https://www.linkedin.com/in/brittany-cocilova-10503b66/

National Organization for Rare Disorders (NORD)

https://www.rarediseases.org

Surviving & Thriving With An Invisible Chronic Illness

https://www.amazon.com/Surviving-Thriving-Invisible-Chronic-Illness/dp/1626255997/ref=tmm_pap_swatch_0?_encoding=UTF8&qid=1644247747&sr=8-1

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 11

Shining a Light On Undiagnosed Illnesses with Chief Clinical Officer Neurobehavioral Institute, Filmmaker, and Rare Mom Dr. Katia Mortiz

Dr. Katia Moritz, a licensed psychologist Board Certified in Cognitive and Behavioral Psychology. She is the co-founder and Chief Clinical Officer of the Neurobehavioral Institute, where she specializes in treating Severe Anxiety, Obsessive-Compulsive and Related Disorders, and Autism Spectrum Disorders. Dr. Moritz is also a rare mom, with two of her three children having Gaucher disease, a rare genetic disorder causing organ inflammation and dysfunction. Even more, Dr. Moritz is an undiagnosed patient herself. In 2010, she underwent a routine endoscopy and woke up with an unknown syndrome. After seeing doctors all over the country at various facilities, she is still undiagnosed. In her search for help, she has encountered a world of undiagnosed patients and families that are equally as desperate for answers. The glaring need for awareness of undiagnosed illnesses has inspired her to create a documentary film called Undiagnosed, based on the stories of the patients, their doctors, and the medical system that struggles to serve them.

EPISODE HIGHLIGHTS

• Katia's entry into the world of rare diseases with her two children who have Gaucher disease
• Her personal experience navigating a diagnostic odyssey with her undiagnosed illness
• The role mental health plays in navigating a rare or undiagnosed disease
• Advice for mothers who have experienced the impact of caregiving on their mental health and what they can do to take care of their mental and emotional well-being
• What Katia's learned being the creator and co-director of Undiagnosed, a film about undiagnosed patients
• The meaningful work she's doing to shine a light on undiagnosed illnesses and support the undiagnosed community
• Advice and learnings for other mothers navigating a rare disease or undiagnosed disease with their children

LINKS & RESOURCES MENTIONED

Dr. Katia Moritz

https://www.instagram.com/drkatiamoritz/

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

Neurobehavioral Institute

https://www.linkedin.com/company/nbiweston/

https://www.facebook.com/nbiweston

https://www.instagram.com/nbiweston/

Undiagnosed Film

https://undiagnosedfilm.com/

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 10

The Holiday Episode: Holiday How-Tos for Rare Mamas with Host Nikki McIntosh

The holidays can be a magical time of year filled with celebrations, traditions, and meaning. But the "Most Wonderful Time of the Year" can also come with disrupted schedules, heightened expectations, and overstimulation. Add in the realities of rare-disease parenting, and it can leave us feeling overwhelmed and wiped out. Over time, I've learned to "holiday" a little differently so that I can truly feel the joy of the season. I put together this episode with some thoughts and ideas for my fellow rare mamas to help us keep the "merry" in this merry time of year!

EPISODE HIGHLIGHTS

• How to prioritize the parts of the holidays that you love
• Scheduling downtime into this busy time of year
• Managing our expectations and those of others
• Simplifying so that we can stay sane

• Practicing acceptance and granting grace

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 009

Nutrition Coaching for Rare Mamas with Dietitian Nutritionist and Rare Mom Chardell Buchanan

Chardell Buchanan is a Registered Dietitian Nutritionist who offers nutrition coaching to moms of children with disabilities. At the age of two and a half, Chardell's son, Ben, was diagnosed with a rare genetic disorder called Phelan-McDermid Syndrome. After Ben's diagnosis, her life was busy, and survival was the goal. Soon she realized not prioritizing her own health was affecting how she showed up for her entire family. She started using her professional skills as a dietitian nutritionist to plan and make healthy meals and snacks. As a parent of a disabled child, she understands firsthand that taking good care of yourself and eating healthy can feel overwhelming. She implements easy-to-use tools that make healthy eating effortless. In this episode, she's teaching us how to do the same. With ideas and strategies to make meals simple and nourishing, she's helping mamas like us discover healthy eating so we can take good care of our own health!

EPISODE HIGHLIGHTS

In this episode, Chardell & Nikki discuss:

• The path to Ben's Phelan-McDermid Syndrome diagnosis
• Chardell's background as a Registered Dietitian Nutritionist
• Chardell's personal experience being in survival mode juggling the demands of motherhood, having a child with a rare disease, and all of the other aspects of daily life
• How Chardell's experience with her son led her to start helping other mothers of children with disabilities
• How rare moms can amplify nutrition by starting small and building on it until eating is the least overwhelming aspect of our day
• Sustainable tips and tools to make meals simple and nourishing
• Getting away from a diet culture that focuses on weight and gives short term results
• Eating healthy as a way to feel better and build strength which allows us to take care of our children and ourselves

LINKS & RESOURCES MENTIONED

Chardell Buchanan

https://chardellbuchanannutrition.square.site/

https://www.instagram.com/stronger_for_ben/

https://www.facebook.com/ChardellBuchananNutrition

Phelan-McDermid Syndrome Foundation

https://pmsf.org/

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 8

The Power of Storytelling in Community Building with Loving Large Author Patti M. Hall

Patti M. Hall is a writer, collaborator, book coach, and founder of the Story House Mastermind. She is also the author of Loving Large: a mother's rare disease memoir. Patti's life was pitched into an abyss of uncertainty when a golf ball-sized tumor was discovered in her teenage son's head, and he was diagnosed with gigantism, a disease of both legend and stigma. After scrambling to access a handful of medical experts in the field, Patti learned that her son could grow uncontrollably, his mobility could be permanently limited, and his life could be cut short without timely and aggressive treatment. Patti's attention shifted fully to her son, away from her relationships as well as her own career and health. Patti's story is all of our stories. In fact, Patti wrote Loving Large for parents like us, whose children suffer from rare, chronic, or incurable diseases. In this episode, Patti gives a peek into her life, her book, and lessons learned along the way. Patti illuminates how sharing our stories has the power to build community and why a community is the very thing we need when navigating rare.

EPISODE HIGHLIGHTS

In this episode Patti & Nikki dig into:

• Receiving Aaron's diagnosis and the aftermath
• Patti's experience scrambling to find doctors, research, and resources all while time was ticking away
• How the notion of "advocates as experts" has evolved during Patti's time in rare and why forming partnerships with care providers is necessary
• Navigating ever-changing symptoms and circumstances and deciphering between big and small things on the rare ride
• The many roles Patti played while being a caregiver to her son including being a story keeper and a promise maker
• The story behind her book Loving Large and how she rewrote it entirely
• The bond she developed with her son while being "cellmates" together
• How we, as rare moms, have to relieve ourselves from the guilt of being away from our kids long enough to take a break and shut off the "monkey mind."
• The importance of sharing our lived experiences because community is how we survive and endure

LINKS & RESOURCES MENTIONED

Patti M. Hall

https://pattimhall.com/loving-large-book/

https://www.instagram.com/patti_m_hall/

https://www.facebook.com/pattimhallwriter

Global Genes

https://globalgenes.org/

Acromegaly Canada

https://acromegalycanada.ca/

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 007

Changing Lives One Child at a Time with Team Joseph CEO & Duchenne Mom Marissa Penrod

When Marissa's five-year-old son Joseph was diagnosed with Duchenne muscular dystrophy, she made a silent promise that she would fight for him and channel her grief into something that would help him. Today, she is the CEO and founder of Team Joseph, an organization with a mission to fund research to find a cure for Duchenne muscular dystrophy and support families with immediate needs related to caring for a child with Duchenne. Marisa is also the host of the Making Our Way Podcast, a place for conversations about some of the toughest and best moments in life. In this episode, Marissa shares both her insights on starting a disease organization and her tips on how to best work with existing organizations.

EPISODE HIGHLIGHTS

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

Joseph is now 18, and he's ready to go to college. When he was born, we didn't know anything was going on, and I had never heard the word Duchenne. Duchenne is degenerative and progressive. I took him to a pediatrician, and she sent me for blood work, and I had an appointment for a neurologist the next morning. Within the course of 24-hours, our lives were turned completely upside down.

Can you tell us more about Team Joseph and what led you to start the organization?

I started it in my heart the day that Joseph was diagnosed. The doctor said there's nothing you can do. A switch was flipped, I thought, nobody is going to advocate for my little boy like I will. I knew I wasn't going to take it sitting down. And I thought this journey is going to be about love. I wanted to fund research. We also found that people were struggling with resources and expenses and navigating a complex medical system and insurance system. So my friend, who also has a foundation, and I came up with the Family Assistance Program to help families with home modifications, fighting insurance, and getting on Medicaid waivers. Caring for a child should never be dependent on your resources. We change lives one child at a time.

What advice would you give other families who are considering starting their own organization?

Follow your heart but do it wisely and intentionally. Assess the landscape. Look for what you think you can contribute that's not already being done. The most powerful nonprofits are ones that can fill gaps. Look for gaps. Don't go duplicate what someone is already doing and doing well. Collaborate and make friends with other nonprofits. What do you feel passionate about? What gaps can you fill? What's not being done, and how can you collaborate? That's what makes you powerful in terms of the impact you can have.

What advice would you give to parents on how to best work with existing foundations? Be kind and give grace. So many foundations are started by parents, and everyone who starts a foundation has good intentions. Find out how you can be helpful. Ask the foundation what you can do to help. It builds teamwork, and it shares responsibility, but it also shares the joys and successes. Have an open mind and an open heart and figure out how to help the community in the biggest way.

LINKS & RESOURCES MENTIONED

Team Joseph

http://www.teamjoseph.org/

Duchenne Family Assistance Program

www.duchennefap.org

Making Our Way Podcast

https://open.spotify.com/show/2Qt0JngwTAn6buZyv9CNxy

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 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

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

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

Facebook

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

Instagram

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]