“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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