Our Stories

Our Stories2020-10-01T18:56:34+00:00

Lily and Elise Poirier

“Your girls are a mystery.” Not the words a parent wants to hear from a neurologist.  Our girls, now ages 8 and 10, have never developed “typically.”  As infants and toddlers, IF they hit a milestone it was extremely late.  One is pre verbal, one none verbal, both have epilepsy, both have some physical challenges and both have intellectual delays.  Our life has been filled with physical therapy, occupational therapy, speech therapy, medical appointments and EEGs for 9+ years.   Once our younger daughter had her first seizure at 2, our medical team knew we were dealing with something genetic.  [...]

December 4th, 2020|Patient Stories|

Michael and Marisa Vestal

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 [...]

November 30th, 2020|Patient Stories|

Joseph Bartlett

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, [...]

November 5th, 2020|Patient Stories|

Mark Thompson

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 [...]

October 23rd, 2020|Patient Stories|

Patrick Sullivan

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 [...]

October 23rd, 2020|Patient Stories|

Karen Purvis

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 [...]

October 20th, 2020|Patient Stories|