Toddler diagnosed with Phelan-McDermid Syndrome
Soft babbling noises can be heard as two-and-a-half-year-old Riley Peyton Bailey plays with her daddy.
She's bubbly, she is adorable and at first glance or even the first several moments, it is not obvious why Riley has recently been diagnosed with an extremely rare syndrome.
In August of this year Riley's parents Christy and Jerry Coleman were told she has Phelan-McDermid Syndrome, a disorder with only 600 cases worldwide.
Now her parents are trying to raise the funds necessary to help their family attend a much-needed conference in July and to assist them in purchasing a special needs dog for Riley.
Christy said she noticed things were not quite right when Riley was around four to six months old.
"It was in the months when they are supposed to actually start babbling and they are supposed to start rolling over and sitting up. She did nothing. She would just look at you," Christy said.
As time went on, Riley still did not hit important milestones.
"She was very severely developmentally delayed," Christy said.
Although she did not sit up until she was 11 months old, or walk until she was 13 months old and although she never progressed past babbling speech, pediatricians still thought Riley was "just slow," according to Christy.
Eventually, Riley was sent to a neurologist and it was discovered she has slight-to-moderate cerebral palsy. Riley had actually suffered a stroke while still a fetus in her mother's womb.
Even with that diagnosis, the neurologist was not satisfied so they continued to look further.
"The neurologist kept saying she does have (cerebral palsy) and it may delay her milestones but it should not be affecting her as bad," Christy said.
Right around Riley's second birthday, a visit to a geneticist brought the diagnosis of Phelan-McDermid Syndrome, which, according to Christy, is actually a deletion of chromosome 22.
Once the diagnosis was made and the characteristics of the syndrome were explained many things became clearer to Riley's parents.
Christy explained some of the symptoms of the syndrome.
"You have an absence to severely delayed speech, global developmental delay, neonatal hypotonia (failure to thrive or function as a normal infant)," she said.
"They do have a little bit of facial features, they have relatively large fleshy hands - she just has what I call 'chubby hands' – they are as cute as can be and her fingertips curl ... like when she points."
Other characteristics of the syndrome include Gerds or severe acid reflux, problems eating or chewing, a decreased perception of pain and an inability to sweat.
"We didn't know it but it came clear to us because when she goes outside to play she gets really, really red – she gets really hot but does not sweat," Christy said.
Because those suffering with the syndrome have autistic-like behavior they are categorized, according to Christy, as having an aggressive autism.
It's possible, said Jerry, "that a lot of cases that have been diagnosed as autism may have been misdiagnosed because this testing is so new and a lot of insurance will not pay for the testing."
Christy said she has found much-needed support through a group on Facebook, but the rarity of the syndrome and the diagnosis being so new for the family makes it that much more important for them to attend the conference.
Cost to attend is $225 per person and does not include transportation, hotel or meals for the four-day event.
The Coleman's have three more children and they feel it would be beneficial for them to attend the conference as well, but finances will be the deciding factor.
"We don't know if it will just be me, my husband and her or if we can actually bring the siblings," Christy said.
The conference will provide new information, new therapies available, seminars for the siblings and opportunity to meet other families and gain more support.
Confusion and frustration are common characteristics of those with Phelan-McDermid Syndrome.
"She gets to the point to where she hits herself ... she bites ... a lot of slapping," Christy said, "all because she gets so confused."
There are times when Riley will begin to scream and it may take two hours for her parents to calm her. They never know if it's just a change of scenery that is needed, stomach pain, or a headache, which is also a common characteristic.
"We start doing all the things she loves to do. We do whatever it takes and a lot of times it is two hours before she settles," Jerry said.
Calming and comforting Riley is where the special needs dog will be most beneficial.
Riley's dog will be equipped with a harness which will allow Riley to walk with more support and possibly feel more confident. Her dog will also be used in times of extreme confusion to calm and comfort Riley.
In efforts to raise funds for the family to attend the conference and to get her special needs dog, Barbara Woods Dison has made six quilts that Riley is raffling for $5 an entry.
Christy said remember to Facebook her under Christy Bailey Coleman to reassure the type of quilt preferred.
Riley will draw, all by herself, the six names for the six quilts December 20.