Help This Young Boy with Phelan-McDermid Syndrome

When Mercedes Young found out that she was pregnant with her son Milo, she knew that she would do everything possible to protect and support her son. Milo was born premature at 35 weeks and spent 2 weeks in the NICU. Mercedes was thrilled when she finally got to bring him home. Yet as Milo was growing up, Mercedes noticed that he wasn’t progressing at the expected rate. After a series of concerning symptoms, Milo was diagnosed with a rare genetic condition called Phelan-McDermid syndrome. Now, Mercedes is trying to move her son, who she describes as sweet, playful, and curious, and a lover of cartoons and anything colorful, from Alabama to Pittsburgh to pursue better treatment. Want to help with relocation expenses? You can donate to the GoFundMe today! 

Milo’s Story

You see, Mercedes explains that she noticed Milo missing certain developmental milestones. She shares:

He was not walking around the age other children were walking, and he wasn’t saying words, sitting up, or trying to actively play with toys. Something felt more concerning so I took him to the Children’s Hospital and pushed doctors to look at all possible avenues. They said he would grow out of it, but when he started having seizures leading to 48-hour paralysis, I knew something was deeply wrong.

Eventually, when Milo was around two years old, Mercedes was finally able to pursue genetic testing; it was then, in April 2021, that they finally received a diagnosis.

However, Mercedes has found it difficult to pursue effective treatment in her home state of Alabama. She shares that many doctors do not understand what Phelan-McDermid syndrome is:

I always have to explain his condition, and I have to watch every doctor Google his diagnosis. The process has made me frustrating as many people don’t show concern or act dismissive.

For support, Mercedes turned online: to the Phelan-McDermid Syndrome Foundation and their family Facebook group. She explains that these have been so helpful in learning not only about what Milo is dealing with now, but what other symptoms or issues may come along with the diagnosis down the line. She explains:

His condition is unpredictable and, the older he gets, the more unpredictable things might be. I just want to be prepared, and PMSF and the Facebook group keep me well-informed.

Moving for Better Phelan-McDermid Syndrome Treatment

Currently, Mercedes is trying to move her and Milo from Alabama to Pittsburgh. She shares that this decision hinges upon the better care that she believes she can find at the Pittsburgh Children’s Hospital. This decision was not made lightly; Mercedes researched where other Phelan-McDermid syndrome families were located and what hospitals were knowledgeable about treatment. She shares:

I just want Milo to be able to get help without me having to get doctors to Google the condition.

Right now, Mercedes is raising money via a GoFundMe to help with the move. Oftentimes, she has had to take off of work to take care of Milo when he is sick. So any money raised will go towards moving expenses and rent, as well as initial care.

What is Phelan-McDermid Syndrome?

Also known as 22q13.3 deletion syndrome, Phelan-McDermid syndrome is a rare genetic condition caused by a deletion or change in long arm of chromosome 22. in the 22q13 region. In many cases, this is a spontaneous, rather than an inherited, change. Phelan-McDermid syndrome is a congenital disease. Symptoms often manifest in early childhood, whether at birth or within the first six months of life. These symptoms may (but do not always) include:

  • Hypotonia (low or weak muscle tone)
  • Developmental delays
  • Feeding difficulties
  • Poor head control
  • Lowered ability to sweat
  • Absent to severely delayed speech
  • Autism spectrum disorder
  • Heart and kidney defects
  • Facial characteristics like full cheeks, a wide brown and nasal bridge, dolichocephaly, and deep-set eyes
  • Seizures
Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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