Episode 1 : The Beginning: Receiving a Diagnosis
For anyone with NMD, the journey begins with a diagnosis…a name for the symptoms that are manifesting. Just getting to the diagnosis can be a convoluted odyssey and take months if not years, and even with a confirmed diagnosis, the odyssey is just beginning. In this episode, we will dive into that conversation from multiple perspectives – an individual diagnosed in infancy, an individual diagnosed in early adulthood and a parent who went on the journey as an advocate for their child. We will talk about each of their stories and the path they took to get a diagnosis, how it impacted their lives, how they’ve learned to live with it, what’s been hard, what’s been easy-er, and how they have coped and made a life that works for them.
To learn more about the Muscular Dystrophy Association, the services we provide, how you can get involved, and to subscribe to Quest Magazine or to Quest Newsletter, please go to mda.org/quest/subscribe. The Newborn Screening Program truly saves lives. If you want to join our effort to ensure every newborn in the country is screened for conditions like SMA or Pompe disease, join MDA’s grassroots advocacy program. You can sign up today at mda.org/advocacy or text MDAUSA to 504-57.
Paloma Juarez and her husband Brian Way are parents to Vaun, 5 years old, and twins Koen and Zavier, almost 10 months old. Vaun and Koen both have Infantile Onset Pompe’s disease. The family lives in Prairie Village, KS.
Chris Anselmo works at the Muscular Dystrophy Association (MDA) in a partnership management role. Chris lives with one of the conditions MDA covers – Limb-Girdle Muscular Dystrophy type 2B (LGMD2B). Chris was diagnosed with the disease when he was 18 years old, the result of a routine blood test after a car accident and before he had any physical symptoms. Today, Chris is 34 and has lived with increasing muscle weakness for the last 13 years.
Disclaimer: No content on this site should ever be used as a substitute for direct medical advice from your doctor or other qualified clinician.
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