BridgeBio is committed to leading the way toward improved diagnosis and management of patients with ADH1. Connect with our patient advocacy team at [email protected].
Kady's Story: A Mother of a 4 Year Old Son Diagnosed With ADH1
As a mom of a 4 year old diagnosed with a de novo (newly identified within a family) CASR variant at 6 weeks, the journey to get an ADH1 diagnosis for my son was incredibly challenging. Despite my intuition and recognizing early signs that something was wrong, my concerns were initially dismissed by medical professionals. My son experienced severe gastrointestinal issues and muscle spasms, which were overlooked until a severe laryngospasm led to an ER visit where hypoparathyroidism was finally diagnosed. Managing his condition involves a delicate balance of calcium supplementation to avoid kidney damage, causing constant stress. I wish for a life where ADH1 doesn't dominate our daily existence, allowing my son to enjoy a more carefree childhood. There needs to be better education and support for parents dealing with rare diseases, so our concerns are taken seriously and properly investigated.
We're constantly riding the line of giving just enough calcium supplementation to function properly, but not so much that we're over-medicating and causing irreversible harm to the kidneys.
Jessica, A Wife, Mother, and Licensed Therapist, Who Has Been Living With ADH1 for 29 Years
I was diagnosed with ADH1 around the age of 3 and [diagnosed] with hypoparathyroidism at birth. My parents have shared that because we didn't know about the specific genetic factors involved, the medication regimen I was on inadvertently caused more harm to my kidneys. This has led to life-long complications, including chronic kidney disease and nephrocalcinosis. The ADH1 symptoms that affect me the most are the brain fog and episodes of tetany.
If I didn't experience the symptoms of ADH1, my life would be completely different. I would feel fully in control of my body and sensations. It would bring a sense of stability and freedom that I've never fully known.
Jessica's Story of Living With ADH1
Sarah's Story: An Artist, Writer, Teacher, Human With ADH1 and Mother of a Child With ADH1
Living with ADH1 has been incredibly isolating and challenging for me. The deep, bone-dragging fatigue has severely limited my career and social life. I felt so lonely because doctors never understood my symptoms or prognosis, and I lacked a community of fellow patients. The most challenging aspects were the isolation from not having a supportive medical community and the uncertainty of how to treat the underlying condition. Initially misdiagnosed with idiopathic autoimmune hypoparathyroidism, I only received the correct diagnosis at 31 when my first child, Beatrice, showed symptoms of low calcium.
The fatigue, which first appeared during my senior year of college, deprived me of socializing with friends and pursuing my dreams. People often didn't understand how my fatigue was different from normal tiredness, which added to my isolation. My hometown did not have an experienced endocrinologist, so I moved to a nearby city to live with a cousin who helped with lab and doctor appointments. Despite completing my MFA and PhD, my condition and the grief from losing my first child, made it impossible to become an English professor. I felt immense guilt, as doctors believed my illness and unstable minerals caused her death. Additionally, I struggled with depression and anxiety, which were not yet recognized symptoms of low calcium. Now, I teach at a private high school. While I am proud of my perseverance, I often wonder how different my life could have been without ADH1.
It wasn't until I was 31 that I was diagnosed with ADH1 when my first child presented with symptoms of low calcium in the NICU.