I am proud to have been selected to run in the 2017 Boston Marathon on April 17th as part of the Boston Children’s Hospital Miles for Miracles Team.
I am running for my son Jack who was born three weeks premature (37 weeks) on July 18, 2015, with many physical complications around his skin, hair, overlapping fingers, rocker bottom feet and contractures of his arms and legs. He spent the first 30 days in the NICU at Beth Israel in Boston where we worked closely with Geneticists to determine the cause of his condition. Trisomy and Microarray testing proved indeterminate.
We then worked with the Geneticists at Children’s Hospital in Boston. Advanced genetic testing called Whole Exome Sequencing was completed and the testing confirmed that Jack has a genetic mutation of the ERCC2 gene called trichothiodystrophy, or TTD, and a mutation of SCN2A which makes him prone to seizures. The odds of being born with TTD are one in one million and there are currently only 100 known cases worldwide. Some of the symptoms include UV sensitivity, vision and hearing loss, feeding issues, stunted growth, contractures, and developmental delays.
Jack is the love of our lives and in only 15 short months, Jack has proven to be the strongest little guy I know. He has feeding challenges and struggles to gain weight. He has spent several weeks in casts and had subsequent surgery to correct his rocker bottom feet. Additionally he has had surgery for a feeding tube in his stomach followed by redirection into his intestine, surgery for ear tubes and an endoscopy and most recently started treatment for seizures. This does not include the dozens of overnight stays at Children’s and countless doctor’s appointments.
Having spent many days and nights at Boston Children’s Hospital I’ve come across children of all walks of life, and am humbled by the love, care, and understanding of the amazing doctors, nurses, and staff who work with every miracle that walks thru the door.
On behalf of my wife Jen and myself, I would like to thank you in advance for your generous love and support as we work towards the research and resources required to understand and take care of these beautiful children. Children’s Hospital’s Vision is “until every child is well” and I too believe this to be true and am honored to be a part of this remarkable journey!