Not Always a Text Book Life: Shelby Still Hits Milestones Despite her Extensive Diagnoses

March 20, 2013

Shelby’s diagnoses include Cerebral palsy, epilepsy, severe delays/mental retardation, along with congenital heart disease (atrial septal defect/ventricular septal defect repair, supraventricular tachycardia, ventricular tachycardia, atrial fibrillation and pacemaker/defibrillator), Type 2 diabetes, unspecified liver disease, chromosome 8 abnormalities (deletion of the distal segment of the short arm of one of the 8 chromosomes, or distal 8p monosomy), and Cohen syndrome. From the information and testing done over the years, we assume the delays and the heart conditions most likely stem from the chromosome 8 abnormalities, but the Cerebral palsy adds to the delays as well.

“Cerebral Palsy is a group of disorders that can involve brain and nervous system functions, such as movement, learning, hearing, seeing, and thinking. There are several different types of cerebral palsy, including spastic, dyskinetic, ataxic, hypotonic, and mixed.”

Here is a brief flash of her life so far: Although she only tests cognitively at a two to three year old level, never being treated different than her siblings has taught her social skills, putting her at a seven to eight year old level. With all she has been through, even after going into cardiac arrest twice, multiple seizures, foot/ankle reconstructive surgery and much more, she never lets life get her down. She attended dance classes for five years, peewee cheerleading for two years, Challenger League baseball for three years, and she is involved with her senior class at school. She has always been a social butterfly and expects to be the center of attention! She will attend her senior prom in April, and she will “graduate” in May at 19 years old (in a FLS class), and we are so elated to have her hit another major milestone in her life!

Cohen syndrome is an inherited disorder that affects many parts of the body and is characterized by developmental delay, intellectual disability, small head size (microcephaly), and weak muscle tone (hypotonia).

The key to any life, but especially one that includes a special needs child, is to cherish every minute and make the most of everything. Your child will only live up to what you expect for them, so always set your goals high and hope for the most! I have definitely learned as much, if not more, from her than she has from me. She has the most self confidence of any child I have ever seen; nothing stops her from trying to achieve the things she wants most. She has been much more than a miracle for sure! ♥

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