by Anna Kidwell
I am mom to two girls, Ashleigh and Brooke, who were diagnosed with Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo Syndrome. Our other two daughters are carriers but not afflicted. It is a devastating diagnosis with no treatment or cure. The life expectancy is 15.
Our angel Ashleigh passed away 5 months before her 30th birthday. Brooke is now 30 and doing as well as she can with a neurological disorder. Ashleigh had the DNA test for markers and it had to go through three labs before an even rarer discovery was made. Ashleigh’s markers were on her introns not exons. Both my husband, Dave, and I had to be tested as well to see who had the anomaly. Emory has written this up since it had never been seen before.
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Living with Brugada Syndrome
Brugada is insidious, especially for someone my age. It tends to “hide” in the ECG. Many times, it looks normal… but it isn’t. And with the myocarditis I had at the same time, it was even harder to get a correct diagnosis. The doctors didn’t know whether the findings were due to Brugada or to myocarditis. After my hospitalization, and after I suffered a fainting episode, it was finally decided that I should be implanted with a defibrillator (ICD). When it happened, I felt like life was given back to me.
Read moreHe Is Three. His Voice Isn’t Lost —It’s Waiting to Be Heard.
By the time a genetic diagnosis of a rare mutation in the PPP3CA gene finally arrived, critical months — even years — had slipped away. Milestones were missed while we waited for answers. Early concerns were minimized, and our pleas for help were too often brushed aside until delays became severe. That delay is not just a bureaucratic failure; it is lost opportunity — lost time for therapies that could have helped him build strength, communication, and independence.
Read moreThe Beginning of Our Lowe Syndrome Journey
By Caroline Tsai The sun blazes overhead without a cloud in sight. Only a high of 90 […]
Read moreInvincible Never Invisible: A Decade of InvisiYouth
I was competitive tennis player as a teen and was unfortunately injured in training, which resulted in dealing with an injury and neurovascular condition that changed the trajectory of my life. I was thrust into the world of living with a chronic illness, years of trying to find proper diagnoses and treatments, all while balancing life as a teen/young adult. During this entire young adult experience, my doctors would tell me “wait” till they could fix my health to live my life fully… I created InvisiYouth out of my love of philanthropy, and my newfound passion to giving a voice for the young adult population living with all chronic illnesses and disabilities for the non-medical aspects of their lives with health struggles.
Read moreBeauty in Being Rare
Classical HCU is a condition in which my liver has a defective enzyme that is supposed to break down methionine. Instead, it builds up and turns into homocysteine, which is extremely toxic to your body. These elevated levels can result in blood clots, strokes, and other life-threatening complications. I follow an extremely restrictive low-protein diet—only about 10 grams of whole protein per day—alongside a methionine-free formula, the medication called betaine, and a cocktail of vitamins and supplements.
Read moreWe are the Heart of PPA2
Determined for answers, we asked for full exome sequencing to be performed. After an agonizing few months wait, we finally received a diagnosis in June 2023 – “PPA2 Mutation – Sudden Cardiac Failure”. Upon frantically searching the internet, we found that it was not only rare, but that the outcome was bleak. PPA2 Deficiency is an autosomal recessive mitochondrial disease that affects the energy production in the body. At the time of diagnosis, literature reported that there were 65 known cases with only 10 living individuals worldwide. There is no treatment or cure currently available for PPA2. In an effort to find more information, we came across a Facebook group for PPA2 that consisted of approximately 20 members from all around the world whom had family members affected. Today our group has close to 80 members, with 20 being individuals affected by PPA2 that are still alive.
Read moreStanding Up for Access to ERT: Upholding a Human Right
Something is very wrong with the fact that Evren needs a chair because he is too tired to stand, let alone join these boys in their ball game. I felt sick. I knew his strength was declining rapidly due to Acid Sphingomyelinase Deficiency (ASMD), his rare, multi-systemic lysosomal storage disease.That memory evokes the pain that those of us who have loved ones with a progressive, debilitating and life-threatening disease like ASMD feel when we must watch out loved one’s physical suffering and decline. The grief is all-consuming and spiritually and psychologically wounding.Fast forward to 2025. Evren has now been on an FDA-approved treatment enzyme replacement therapy (ERT) drug for two-and-a-half years, and his life has been transformed. With the improvements in his health from the ERT, Evren’s quality of life has increased dramatically, and we no longer carry the weight of wondering how much time he has left.
Read moreA Letter from a Man No One Ever Understood
I’m not “just” mentally ill. I live with a rare, misunderstood neurological condition. But I also carry a sensitive, intelligent, perceptive mind that bursts with life when the world allows it. I’m not asking for sympathy — only to be seen, heard, and acknowledged. — I don’t simply need medication. I need an environment that understands me. Someone who sees that this constant fatigue, this emptiness, this numbness — is not laziness.
Read moreYou want to be filled with emotion?
Her condition — Charcot-Marie-Tooth disease — has been around for hundreds of years (if not longer) and so far, nobody has found a cure. Or even a treatment to lessen the pain and suffering CMT causes. But a bunch of us are trying. Where does all that research money go? Here are some examples: Studies designed to show that the treatment is interacting with its theoretical target, cost about $500,000. Also, at 500k, a study in which multiple nonhuman primates are each given a single dose — but at different strengths — to find the optimal dose. Then you have to do it again, but dosing the animals over time (rather than just given a single dose) and that runs $1.2 million.
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