Our Stories

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

Katie Brandt

My husband, Mike, and I were just 29 years old when he was diagnosed with behavioral variant Frontotemporal Dementia (FTD), a progressive neurological disorder with no known treatment or cure. Our son, Noah, was about to celebrate his first birthday. At a time of growth, our family would learn to live with loss. Four days after my husband received this terminal diagnosis, my mother died unexpectedly from a heart attack in her sleep. She was 58. Seventeen days after her passing, my father was diagnosed with Alzheimer’s Disease. He was 59. In the span of 21 days, my entire [...]

May 19th, 2022|Patient Stories|

Keisha Greaves

I was diagnosed with Limb-Girdle Muscular Dystrophy (MD) at the age of 24. Born, raised, and educated in Cambridge, MA, I received a bachelor’s degree in Fashion Design and Merchandising and a Master’s degree in Business.  I first started experiencing strange symptoms around 2009. While in graduate school  my leg would just give out on me without notice and I began to repeatedly fall and would need assistance to get back up.  Around this time I also began to notice when I tried to reach for certain things in the kitchen cabinets or try to exercise I was unable [...]

May 19th, 2022|Patient Stories|

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|