PARENTS AS RARE – EPISODE 095
Patient Stories from the FAOD Community – Live from the IMC
In this special, live-recorded episode, rare moms attending the 2023 Metobolic Conference share their stories with me.
Alex is a 20 year old college student who has LCHAD. Her journey was tough from the beginning, functioning pretty normally at an early age and then experiencing muscle function decline as she grew. I’ve enjoyed watching Alex own her story and own her health and communication with her doctors. As her mom, I don’t know how to not be her advocate, but she’s 20 years old and she’s more than capable of running the world. I’ve realized in the last year that I have a voice and I have my own story, being a parent who has been on this journey with Alex. We’ve accomplished things we never thought we would and we’ve learned a lot along the way. I do feel a little lost in the current season because I was a stay-at-home mom and Alex reinforced my reasons for being a stay-at-home mom, but the transition to college has made empty-nesting really hard.
When Blake was born early, he was flagged early for LCHAD through newborn screening, starting a ten month journey of complications to a diagnosis. We’ve learned a lot along the way medically, but also how to advocate and stand up for our kids.
I have four children and my two oldest have LCHAD. We didn’t have a typical diagnosis through newborn screening. In 2013, my six month old son had a medical crisis. When we arrived at the hospital, he was limp and he had unexplained symptoms. We were transferred to another hospital where he received a mis-diagnosis and was released from the hospital after a few days. Six months later, he experienced the same symptoms again and I took him to the hospital. We were transferred to another hospital and we met with a geneticist who provided a correct diagnosis of fatty acid oxidation disorder, specifically LCHAD. I had my daughter tested and found out that she also had LCHAD. It was a stressful time, but they’re now ages 10 and 12 and doing great.
At 6 days old, my son was diagnosed with LCHAD through newborn screening. Until I met another mom who also had a child with LCHAD, I spent a lot of time fearful of what the future would hold. She gave me a wealth of information, knowledge and hope. Her son was older, playing sports, out there living life. She had a lot of advice that helped me so much. Having another mom who had been through what I was going through and having her support has been the most meaningful experience of the journey.
My 14 year old son has LCHAD and our journey had a rocky start. Six weeks from my scheduled delivery, I became ill and was admitted to the hospital. I had an emergency c-section and I was transferred to the ICU on life-support the next day. At the time, doctors thought there was resulting damage from the c-section and they did an unsuccessful exploratory surgery. I was on life support for the next 8 days before I received a successful treatment to stop bleeding. When I first got to see Christopher, my arms were so weak that I couldn’t hold him alone. I spent the next year recovering, coming to terms with my own health changes and learning everything I could about LCHAD. Our LCHAD journey has been filled with love, excitement and so many amazing moments and Christopher makes our lives so rich.
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