Imagine running an entire house on one small battery. That is mitochondrial disease.
As most know, Charlie Gard passed away last month, just shy of one year old. He was a helpless baby in the UK, who gained worldwide attention and became famous for all of the wrong reasons.
Our nephew, Noah Shulman shared a fateful commonality with Charlie Gard. They both had a devastating and incurable diagnosis known as mitochondrial disease.
Noah was born this past Dec. 29. Full term, normal birth. We were filled with joy and happiness, as this was the first baby among our tight-knit, millennial-filled family.
At just two weeks old, we noticed Noah was not eating enough, overly sleepy and not gaining weight. He was admitted to the hospital on Jan. 12 for tests and observation. After a month in the NICU, he was finally diagnosed with this rare, often fatal, disease. None of our friends, family or medical colleagues had ever heard of “mitochondrial disease.”
As we came to learn, mitochondria (specialized compartments present in every cell of the body except red blood cells) produce more than 90 percent of the body’s energy. When these tiny parts of the cell can’t do their job, the body doesn’t get the energy it needs, resulting in a wide range of debilitating symptoms. The parts of the body, such as the heart, brain, muscles and lungs, requiring the greatest amounts of energy are the most affected.
Mitochondrial disease is difficult to diagnose, because it affects each individual differently. Symptoms can include seizures, strokes, severe developmental delays, inability to walk, talk, see and digest food combined with a host of other complications.
Approximately 1 in 4,000 people are diagnosed with mitochondrial disease each year. This includes infants, children and adults. It is caused by an inheritable genetic defect. Driven by advances in genetic testing, more and more patients who previously had an unknown diagnosis, are now diagnosed with this disease each day.
The onset of the disease can be at birth, or sometimes it doesn’t appear until later in life. There is no cure.
Baby Noah battled around the clock as he grew and required more energy to live. His symptoms worsened. He had seizures, heart problems and was increasingly unable to move his arms and legs or breathe without the support of a ventilator. Yet his smile and huge eyes kept touching our hearts, spreading love infectiously to all.
Sadly, on March 21, 2017, and at just 11 weeks old, Noah passed peacefully to become our angel.
For Noah, there was no fancy experimental treatment to try. His treatment was limited to a special diet, along with vitamins and supplements that are merely theorized to help cells function better and possibly slow progression.
Stop for a second and imagine that. A fatal disease and the best treatment available in 2017 consists of vitamins and supplements. We need to develop better treatments and hopefully someday a cure so that people such as Charlie Gard and Noah Shulman can be helped. To do so requires raising awareness of the disease and funding research for a cure.
The United Mitochondrial Disease Foundation (UMDF) seeks to do just that.and has set aside Sept. 17-24 as Mitochondrial Disease Awareness Week. UMDF is a member of International Mito Patients (IMP), which aims to secure 55 landmarks to mark the 55th anniversary of the first diagnosis of mito. The buildings will be lit green – the international color of mito.
Montclair will join with its support of Mitochondrial Disease Awareness week, Montclair will illuminate both the Municipal Building and the Memorial at Edgemont Park. We will thus join forces with global icons including Niagara Falls and the Colosseum.
Noah’s journey of spreading love, hope and compassion did not end after 11 weeks. His journey continues as we work to spread his story far and wide, driving understanding and awareness of mitochondrial disease and hopefully, one day, a cure.
Cary Africk is a 35-year resident of Montclair and former Second Ward Township Councilmember. Evan Shulman is the father of the late Noah Shulman. He resides in Forest Hills, Queens. He recently lived in Montclair while doing research in mitochondrial disease.
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