Treatment
Your child will likely be followed by many different
specialists throughout their life. Medical treatment will be
specific for each child, depending on their medical needs. For
example, children with cleft palates will need to be followed
and undergo surgery by a plastic surgeon, those with heart
defects may need to be followed by a cardiologist, and so on.
They will likely be seen by a geneticist for follow up. This
is partly to ensure that your child and family are taken care
of, but your child can teach the geneticist as well. Even
genetics specialists, who tend to see the most rare conditions,
may not have other patients with ES.
All of the children will require assessments by speech,
physical and occupational therapists that can help them reach
their full potential.
There is no cure for Emanuel syndrome, but there are many
things we can do to help our children be the best that they can
be.
Some parents have asked if there is gene therapy to help our
children, and unfortunately, there is not. Our children have
many extra genes in every cell that affects how they develop and
learn. Gene therapy is an experimental treatment for conditions
which affect only one gene, such as Duchenne Muscular Dystrophy
or cystic fibrosis, and it is usually aimed at replacing a
missing or dysfunctional gene. In ES, there are “too many”
genes, and there is no way to remove them. Even if we could
remove them, the problems associated with ES are from abnormal
development of organs, a process that occurs mostly before
birth.
Are there any
special concerns for our children if they have to undergo
medical procedures?
Like any child with a developmental disability, children with
ES may require special attention when undergoing surgery. The
most important person to talk to before a surgery is the
anesthesiologist. This doctor administers medication to put your
child to sleep, and manages his or her airway and fluid balance
during and after the surgery. You should be able to tell the
doctor if your child has had difficulty with prior surgery, and
make sure they know about any airway anomalies, heart and kidney
problems, and allergies.
There are a multitude if screening tests your child may be
put through. There is a good website that explains many of them.
As a general rule, any test that requires sedation should be
something that you talk to your doctor about. Make sure you and
the doctor are aware of any airway concerns or potential
negative reactions to sedative medications.
Ask the doctor is the results of
the test will change the treatment plan. If a risky test
is being recommended just to satisfy the doctor’s curiosity,
then maybe it should be reconsidered.