After unsuccessfully latching and nursing, having feeding difficulties that caused alarming weightloss, and failure to reach developmental milestones; we received Luna’s genetics report and she was diagnosed with Phelan McDermid Syndrome at nine months old.  Everything and nothing changed for our family all at once.

Phelan McDermid Syndrome is characterized by global developmental delays, absent or delayed speech, moderate to severe cognitive impairment, hypotonia, Autism Spectrum Disorder, and regression.

One year ago today, Luna was waving, clapping, pointing, telling the dog “no no no”, and saying Mama and Dada.  Today all of those skills have disappeared.  

Luna receives weekly PT, OT, Speech, and early infant education totaling five hours per week.  She has a total of ELEVEN diagnoses and ELEVEN specialist she sees regularly to monitor her health and progress.

Luna works hard every day to try and gain skills that most of us take for granted: sitting up, standing, feeding herself, and communicating.  At this time, Luna relies on us for 100% for her movement, feeding, and guessing what her wants and needs may be.

Phelan McDermid Syndrome was not inherited to Luna or caused by our age and health.  Phelan McDermid Syndrome randomly occurred during conception when Chromosome 22q13 was deleted.  I can’t tell you how many times I have said, “Things like this don’t happen to my family”.

Your donation of $22 will help support research, clinical trials, travel expenses for Phelan McDermid Syndrome Families to participate in clinical trials and conferences, and most importantly HOPE for families like ours and children like Luna.