What is The Phelan-McDermid Syndrome?
By: Cheryl Wood | 2009-01-05
“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.
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.
The Phelan-McDermid Syndrome:
Treatment for The Phelan-McDermid
What can we, as caretakers, do?
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.
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,
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.
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.
About the Author: Cheryl Wood
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