Our Stories

In 2008, my son Michael was diagnosed with a urea cycle disorder called Argininosuccinic Aciduria (ASA) at just three days old. ASA is rare genetic disorder characterized by deficiency in an enzyme called argininosuccinate lyase (ASL). ASL is one of six enzymes that facilitate the breakdown and removal of nitrogen from the body – a process known as the urea cycle. A lack of ASL causes an accumulation of nitrogen in the form of ammonia. In the short term, this excessive ammonia can cause seizures, respiratory abnormalities, fluid in the brain and an enlarged liver. In situations where the [...]

When I was little, my parents told me I was always hungry, and I would choke and vomit when I ate. When my parents told my doctor, the doctor told them that I didn’t chew my food enough or I ate too fast. After four and a half years of knowing something was wrong and getting no answers, my parents took me to a specialist who thought I had Eosinophilic Esophagitis.Eosinophilic Esophagitis (EoE) is a rare disease categorized by a buildup of white blood cells (eosinophils) in the esophagus. The most common reason is the body’s response to food. The eosinophils cause inflammation and create strictures, [...]

After suffering a heart attack at the age of 46, which was brought on primarily from years of battling high blood pressure, my new doctor revealed that the cysts I’ve had on my kidneys for decades were causing spikes in my blood pressure, and that I should see a specialist in the field of nephrology. In 2008, I was diagnosed with Polycystic Kidney Disease (PKD), an inherited disorder in which clusters of cysts develop, cause the kidneys to enlarge, and lose their function over time. I was told that there was a 53% chance that I would end up [...]

I am a 65-year-old retired executive in the high-tech, telephone and consumer electronic industries. I was diagnosed with severe heart failure at the age of 38 and forced to leave the workforce five years later due to my declining health. Over the next 13 years, I received 11 stents, two defibrillators and was cardioverted out of atrial fibrillation 23 times. In 2011, my heart failure continued, and I was hospitalized at Tufts Medical Center in Boston. After two months, my doctors were forced to implant a Left Ventricular Assist Device (LVAD) as a hopeful bridge to a transplant. The [...]

At the age of 29, my life changed dramatically. After the birth of my second child, I was diagnosed with severe Ulcerative Colitis, known as Inflammatory Bowel Disease (IBD). It’s certainly not something that’s easy to talk about. I have been suffering from this rare, debilitating condition, Ulcerative Colitis, for more than 10 years. During that time, I have done my best to live a “normal” life despite horrific, chronic bouts of diarrhea—up to 20 times per day. I have endured mortifying accidents because I couldn’t get to a bathroom in the 30-second window my disease provides. I have [...]

My mom was misdiagnosed for about seven years with bipolar disorder and major depression. My family and I were confused because my mom also had slurred speech, poor balance and coordination (as if she was drunk), among other cognitive challenges. It was after many doctors’ visits and medical tests that we found out my mom had a rare, neurological, genetic disease known as Huntington’s Disease (HD). I was 15 when my parents sat me down to tell me about my mom’s diagnosis. But even after they told me the news, I did what most people do: I Googled ‘What [...]