Sadie Rowen Boots was welcomed into this world early on the morning of August 23, 2011. Shortly after she was born, Connecticut experienced an exceptionally rare earthquake; an auspicious start to her brief life and a “pre-cursor” to what was to unfold.
Shortly after birth, blood work from a CT newborn screening, revealed an extremely rare, potential abnormality; something her pediatrician had never seen before. He immediately scheduled follow-up tests by a metabolic specialist at Yale New Haven Children’s Hospital.
These test confirmed the worst fears --- Sadie was diagnosed with a rare, genetic disorder called Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (MCAD Deficiency).
MCAD Deficiency is an inherited fatty acid oxidation disorder that interferes with body’s ability to use fat as an energy source. It occurs in 1 in 25,000 births and is a genetic disorder. Typically, parents of an affected child are “carriers” of a genetic trait causing MCAD Deficiency, and pass that trait to a child. There is a 1 in 4 chance that each child will have MCAD Deficiency when both parents carry the trait for the disorder.
There is no known cure for MCAD Deficiency and without prior indication of this metabolic disease; 20-25 percent of patients with this disease will die with their first episode of illness. Autopsies often lead to misdiagnosis of Reye’s syndrome or Sudden Infant Death Syndrome (SIDS) and MCAD Deficiency is estimated to account for about 1 in 100 SIDS deaths.
The “treatment” for MCAD Deficiency is to avoid periods of not eating and most metabolic specialists recommend that babies under 3 months not go without food for more than two hours.
Sadie has been hospitalized twice in the past eight months. RSV the first time, and a typical stomach bug the second time. Sadie was in danger because she was not taking her bottle. Sadie does not have a backup of energy, and her blood sugar will quickly drop with running the risks of seizures, coma, or sudden death. Sadie is unable to go more than four hours without eating. Each time Sadie spent about a week at Yale New Haven.
At the suggestion of others, Sadie’s grandparents recently established The Sadie R. Boots Irrevocable Trust Fund. This Special Needs Trust, an inter vivos irrevocable trust in accordance with IRS regulations and Connecticut state laws, allows property placed in trust to be strictly managed for the exclusive benefit of Sadie during her lifetime. Although contributions gifted to the Fund are not tax deductible, the detailed structure of the trust requires every dollar received to be used exclusively for Sadie’s on-going medical costs.
If you are interested in donating to Sadie and her family, please send a gift to
lesjboots@aol.com using paypal.
I had the honor of meeting Sadie last week. During our session she was a busy little gal crawling around getting into mischief as most 8 month olds do. She was such a happy baby, full of smiles, but once I took the camera out, like a lot of other babies, she decided not to smile. I am so honored to have been able to photograph Sadie and her big sister Emma. They brightened up my day on this rainy day last week!
I love how the birth mark in this photo above resembles a heart.
