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.