Xander Williamson is among 600 people in the world, and merely 11 people in Australia, to have Pitt-Hopkins syndrome.
His mother Melissa had no idea she would be returning from Xander’s routine check up with the name of this rare syndrome ingrained in her mind. Upon research, she learned that PHS is a random mutation with no cure. It usually results in the loss of speech and ability to walk.
To learn more about Pitt-Hopkins syndrome, click here.
Melissa noticed that Xander was missing each crucial childhood milestone well into 10 months old. For example, he could not support himself on his frail legs and could not sit up independently.
These days, Xander is spending time at the Neurological and Physical Rehabilitation Therapy Centre in Sydney, where he has made some impressive achievements. After two intense weeks of therapy, Xander’s awareness to his own body has become more apparent, and he is finally making noises.
In February, he will be undergoing another three-week long session. Melissa hopes to continue this steady stream of treatment that will hopefully allow him to walk and talk some day. There is a possibility for augmentative technology for speech, but for now, her main focus is to get her son walking.
“Because of the low muscle tone and all the developmental delays everything is really repetitive. While the other kids are out playing we’re doing exercises building up core strength to learn to crawl,” melissa said to the latrobe valley express.
Xander’s upcoming therapy session will cost the family over $10,000 in addition to the physiotherapy he is already receiving which costs $150-$200 a week.
To cover the costs, Melissa hosted an open garden event at the Citriodora gardens surrounded by hundreds of roses, country gardens and artwork. The money raised was significantly beneficial toward Xander’s treatment.