Two Rare Mama Bears

Greta is a typical 11-year-old 6th grader who wants to go to school dances and hang out at her friends’ homes, but what is different for Greta is that these experiences always include a parent or nurse to accompany her. Greta lives with Nemaline Myopathy, cruises in a power chair, breathes via a tracheostomy, and needs suction to ensure her airway isn’t blocked. Greta’s parents, Lyn and Kate, were vulnerable and explored with us some thoughts on secondary grief - the struggle that comes with witnessing grief over limitations, barriers, or independence. While they don’t lament on this grief, they keep a “make it work” attitude to navigate life and even give listeners a few tips on how they have built resilience and independence into life with a medically-fragile pre-teen.

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As an introduction to our November book club, Kevan Chandler sat down with us for this coffee house interview about his book “We Carry Kevan”, an inspiring story of camaraderie of six friends taking a journey through Europe without Kevan’s wheelchair - just a backpack to carry him in. Kevan shared with us his motivations to write this book, why he chooses to share his story, and what’s on the agenda next for he and his adventure-seeking friends.

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A six-year old “honorary astronaut” has his wish come true - to meet a real-life astronaut, Anne McClain, from his hometown, Spokane, Washington. Listen to this podcast episode to learn how the power of a tribe made crowdsourcing work to make a hometown wish happen for Matty’s son in less than 24 hours. Matty shares how her son, Matthew, has become an “honorary astronaut” since he got a bi-pap shortly after his diagnosis with congenital muscular dystrophy.

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Rachel Alvarez's episode 2 of 4 in her series with us (her 1st episode is ep. 033).... When faced with adversity (and at times, multiple layers of it) individuals can find themselves struggling to see past today while trying to look toward new possibilities. Rachel shares with listeners her personal “success” story that had its share of adversity, in hopes to give families perspective that not all dreams are lost when a diagnosis occurs.

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Diligent work performed at a laboratory bench results in advances in the healthcare industry and benefits for the patients it serves. Translation of science to the community through medical interventions delivered to the patient populations is the job of researchers and clinicians - but the job of a Certified Genetic Counselor takes that a step further to pay attention to the social infrastructure to support those professions. Genetic counselors may interpret genetic testing results in terms the lay public can understand, discuss genetic implications of a diagnosis that a family should be made aware of, and/or help families navigate in research that could get them closer to a treatment or cure. In this episode we hear from Casie Genetti, Certified Genetic Counselor at Boston Children’s Hospital, who applies her knowledge with a group of clinical researchers focused on Congenital Myopathies and Orphan Disease research. Contact Casie at: [email protected]

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Caitlin Parker, a North Carolina mama to a sweet young daughter with LAMA2, does a little bit of a tongue in cheek rant on accessible parking - but also educates listeners on laws that apply to rights users of the accessible spaces. She reminds us of a great quote she found on www.myparkingsign.com: “we prefer the phrase ‘accessible parking’ rather than ‘handicapped parking.’ We encourage you to use language that accurately characterizes the parking, instead of a word that inaccurately characterizes the people who use it”.

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Matty and Megan talk about SciFam take-aways and how they were processing information they valued from the conference, and further - how to communicate it to their medical teams. They then chat on strategies they (and listeners) can use to ensure the science is translated through patient communities and then activated to care teams. One action item that came out of SciFam, fairly universally across the board, was how can we (as a patient community) work to help spread the word of CMD within medical communities to educate those who infrequently come into contact with individuals experiencing neuromuscular conditions.

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Matty and Megan find themselves in a bit of a pity party (or stuck in a rut) lately. While occasionally pity parties can comfort you, sometimes you keep asking yourself what did you do to deserve whatever it is that made you so sad in the first place. Through the course of this episode, Matty and Megan have decided to stop apologizing for disability, accommodations, or exceptions - and instead are shifting the tone to positive and having an inclusion mindset.

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Rare disease individuals, including those with neuromuscular disorders, are often longing for a treatment, and hopefully one day… a cure. When planning a clinical trial, it is important for researchers to find enough eligible participants that can be contacted quickly. That’s where a patient registry (or database) is critical - there the patients’ clinical and genetic details are collected and made available to researchers. In our first cross podcast (the episode will air on 2 podcast shows), we discuss with Ben Forred CoRDs Cast, a rare disease podcast created by the team at Sanford Research (headquartered in Sioux Falls, SD). On their podcast, you'll hear interviews with patients, patient advocates, physicians, and researchers to raise awareness about the 7,000 rare conditions affecting 1 in 10 people worldwide. Similar to the Congenital Muscle Disease International Registry, Sanford Research also has a rare disease registry, CoRDS, that connects patients and researchers everywhere.

Find more information about Sanford Research at: www.sanfordresearch.org/cords

Connect with Ben Forred, Director of Clinical Research at Sanford Research, on Twitter at: @SanfordBenF

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“Life is about how you react to situations and the decisions you make” - insightful words from Patrick Veltri, a Canisius College student, living in Buffalo, NY who has taken his passion of sports and sports management and turned it into a future career path. Patrick, a Merosin Deficient CMD (LAMA 2) community member, teaches listeners to be positive, assertive, and confident about belonging in whatever their end goal is - and usually with this mindset, big things can happen!

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