Raising Rare

How do you tell whether a zebra is male or female?The male doesn’t’ talk about their #raredisease.This can be hard on them. There have been very few places for them to gather to take care of their #mentalhealth. David Hogan set out to change this when the COVID pandemic threatened to isolate us all even more. David is affected by Cowden’s syndrome, and his mother had the condition as well. When she died, he felt the full weight of rare disease on his own mental wellbeing. He noticed that there were many places for women to gather, but it was not a great place for men to show their vulnerabilities. We needed something different. David took action and started inviting men in the rare disease community into conversation. Those conversations have now become the Men’s Rare Wellness Forum, a monthly opportunity for the male zebras to take care of themselves and each other. All men in the rare community – patients, Dads, brothers, caregivers, and providers – are invited. You can learn more about the Men’s Rare Wellness Forum by reaching out to David at [email protected] or searching “@mensrarediseasemh” on Instagram or David Hogan on LinkedIn

“This journey has changed our lives, has reshaped my identity. Plans change, dreams shift. I've had to learn to become more than just a mom.”Mariah only started this journey earlier this year. She has climbed the initial learning curve very quickly and has used her professional skills to navigate the logistical, interpersonal, and emotional twists that rare diagnosis brings. She even found time to talk to us on Raising Rare. Her younger son has GRIN2A. Like many kiddos with rare diagnoses, Marcus shines a light that helps him connect with people. While he doesn’t use words, his smile and deep dimples are his secret weapons. Mariah has a very simple outlook. “Marcus has a rare diagnosis, but he also deserves the same shot at a full thriving life.” She and her husband have embraced the uninvited challenge of helping him find that. We are sure you will be inspired by their spirit.

Five years ago, we first spoke with Nikki McIntosh. In this episode, Nikki returns to share her journey as a mother of a child with spinal muscular atrophy (SMA) and the profound impact of clinical trials on her son’s life. Miles is growing up and has started playing wheelchair tennis. Nikki shares the joy this brings to her. Nikki also discusses the emotional roller coaster of navigating rare diseases, the importance of community support, and her new book, 'Rare Mamas: Empowering Strategies for Navigating Your Child's Rare Disease.' The conversation and the book highlight resilience, advocacy, and the need for actionable strategies for parents facing similar challenges.https://raremamas.com

The stories of rare kids powerfully shape the stories of the parents who are raising them. In this episode, Claudia Parker discusses how her daughter, who has FOXP1 syndrome, has brought so many benefits into her family’s lives. But this was not easy. Claudia had to deal with the fact that her dreams and plans for her daughter were not their reality. As she prayed for the situation to change, she was comforted that her daughter was not broken; and this was humbling. She was healthy. But she had different abilities. Once they embraced her daughter for who she was, their lives began to be shaped in wonderful ways. Claudia’s husband uses their daughter’s story to help educators understand how to connect with, understand, and love students who may not fit the mold. Their lived experience has ignited a storytelling passion in Claudia that has resulted in pursuit of a career in filmmaking. You can see more of their story at http://www.youtube.com/user/Timesofmylife We hope you enjoy the conversation.

“Raghav’s expression for discomfort is laughter, counterintuitively. We call it his cranky laughter.” Sanath RameshImagine not being able to tell the people around that you are in pain. Or more accurately, imagine that you have no way of telling whether your child is in pain. If that child is usually happy and laughing, imagine your horror when you figure out that laughter means “ow.”For Brittany, while Evie can tell her when she is in pain, Evie is so used to the pain that she may not even mention it until it is extreme. And sometimes that is too late to avert a crisis.Pain management is a very difficult problem in the best of circumstances. For Sanath and Ramya, it gets even more complicated. The treatments they have found that work tend to lose effectiveness after a while. And sometimes, the rebound pain seems worse.In this episode, Sanath opens up about their relentless struggle to keep Raghav comfortable and the extreme toll it takes on everyone in the family.