JahCai has been diagnosed with Phelan-McDermid Syndrome (PMS). There is a wide range of severity of symptoms in people with Phelan-McDermid Syndrome.  Many children fall somewhere in the autism spectrum. Some medical issues with PMS include seizures, chronic diarrhea, macrocephaly, reactive airway disease (asthma).

JahCai has a double copy of chromosome 22.13 and the main chromosome is missing a few mega bases on the long arm.  The chromosome deletion is often difficult to see by routine chromosome studies, therefore, a special test called FISH (fluorescence in situ hybridization) is often used. In FISH studies, a DNA probe that is specific for the tip of the long arm of Chromosome 22 is used to see if the 22q13 segment is present or absent. If your child has Phelan-McDermid Syndrome, the 22q13 region will be present on the normal chromosome but absent on the deleted chromosome.

JahCai has autistic symptoms and low tone, but he is the best kid a Mom could ask for!

X