What is The Phelan-McDermid Syndrome?

“Don’t worry,” my then first grade daughter re-assures her friend. “You can’t catch it.” Together they stare at her two year old brother as he scoots down the stairs on his diapered butt towards them squealing with glee. His ears are over-large, his chin a bit pointed, and his smile raises his pale puffy cheeks so that he resembles a cherub cloaked in joy.

What is The Phelan-McDermid Syndrome

The Phelan-McDermid Syndrome, is a genetic condition which meant a piece on chromosome 22, long arm (q), region 1, band three, sub-band three did not exist or had been compromised. Our child was the thirty-fourth in the world to receive this diagnosis in 1998. Today there are about four hundred individuals in the world with this chromosome deletion. The condition is named for Dr. Katy Phelan and Dr. Heather McDermid who first identified the condition. Dr. Katy Phelan brought the original first fifteen families together into what is now The Phelan-McDermid Syndrome Foundation. In 2008, over 100 families attended the support group’s bi-annual conference on the East Coast. 

Diagnosing The Phelan-McDermid Syndrome: 
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. A more recently developed technique, micro-array comparative genomic hybridization (CGH), is also used to identify the loss or gain of chromosome material. It is more sensitive than FISH in detecting loss of very small regions of the chromosome and can examine all of the chromosomes at once, rather than targeting only chromosome 22.  The deletion can also be detected in cells from skin or in cells obtained for prenatal diagnostic testing.

Most Common Characteristics
Some of the most common characteristics include: Ptosis (droopy eyelid), a pointed chin, prominent poorly formed ears, puffy hands,thin flaky toenails, wide nasal bridge, hypotonia (poor muscle tone), tendency to oveheat, and  lack of perspiration. Behavioral characteristics include  chewing on non food items (clothing, bedding, toys) – teeth grinding, tongue thrusting, hair pulling, aversion to clothes, decreased perception of pain and anxiety in social situations.  Many children fall somewhere in the autism spectrum. Some medical issues include seizures, chronic diarrhea, macrocephaly, reactive airway disease (asthma). Very few of the children have speech or toilet training skills. 

Treatment for The Phelan-McDermid Syndrome:
The treatment plan for an individual with The Phelan McDermott Syndrome varies from child to child, and from family to family. The condition, at this time, cannot be altered medically. The symptoms may be addressed through extensive intervention such as physical and occupational therapy,  speech therapy and vision therapy.

Of individuals studied with 22q13 Deletion Syndrome, we know that 100 percent have global developmental delay and nearly 100 percent have absent or severely delayed speech. There are moderate to profound delays in all areas and significant delays in speech. Physical issues such as immature muscles, hypotonia, and visual perception cause some delays. Other delays seem to have more to do with neurological issues such as nerve control or mental processing time. Still other delays appear to be caused by physical and neurological problems. (From 22q13.org)

What can we, as caretakers, do?
I define the process of raising a child with this chromosome deletion to that of my experience in training for a marathon. The day to day hands on work to build skills and keep skills can be interrupted and/or delayed by health issues. The race is a long hard one that requires great endurance, and each training plan will vary to fit an individual’s schedule and physical capacity. Basically, the plan is to put the feet to the pavement and go.

     Step One is to get information. Our website (http://www.22q13.org) is often a first point of contact for parents just receiving the diagnosis. We have a chat room link so that we can share our progress or lack thereof with other parents. Much of what we have learned about our children has come simply from sharing with one another and documenting any new ideas when we come together every other year for our Support Group Conference. Our organization is all-volunteer. We raise money for research and to help bring families to our conference who cannot otherwise afford to come and learn. Information is the first critical link for any one dealing with a new diagnosis.

     Step Two is to build a team around the caretaker and the child. Not all of the physical therapy approaches, speech enhancement options, or toilet training procedures will work for every child. My husband and I are fortunate to approach our situation with a remarkable group around us. These team members include many of the families from The Phelan-McDermott Family Support Group. We also have the hands on involvement from our son’s teacher,  aid,  principal, physical therapist,  P.E. teacher and his mainstream classroom teacher who all guide us and follow our lead. We set up our son’s educational program and alter this almost daily when his health limits our options. In our community we have families intricately linked to our son who are like constant ballasts we may lean on when our world tips off normal too much. In building this team I have found that it takes a special heart, an open compassionate heart, to contribute to our team outcome. Be sure the siblings feel they are part of this team.

       Step Three is to expect it all when it comes to what your child can do, and accept the alternative with grace. My son had a few hand signs with which he could communicate. These are gone. They may return. Each night I rub my index finger against my teeth to signal that it is time to brush our teeth and then I slide my hand down my face to say goodnight. Every now and then my husband will announce that Davis is slapping his face and I smile, because that is as good as it gets to saying good night.
     As my daughter so aptly put it, you can’t catch it. But for me, tagging alongside the condition,  what a wild interesting ride it has been. These children begin and end their day with precious beguiling smiles.

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