What to expect when you’re expecting (a child with Apert)

The chances of a parent with Apert syndrome passing it on to offspring is 1 in 2.  The odds of the mutation occurring spontaneously at conception when neither parent has the syndrome vary depending on the source, but it’s often quoted as somewhere around 1 in 125 000 or more. It’s close to the same odds you have of correctly predicting the result of a coin flip seventeen times in a row.  It’s a lot better than your odds of winning the 6/49 Lottery in Ontario (1 in about 17 million) or your chances of me gifting you all of my money (1 in impossible), but it really is a relatively rare genetic mutation.

As a result of this rarity, money put into research of its causes and treatment, as well as the ability for parents to find resources about it, is much more difficult than, say, children with a cleft palate, or Downs syndrome.  Ask people on the street, and unless they are a craniofacial specialist, I doubt they would have heard of Apert syndrome.

We’ve been in and out of the hospital constantly since Marshall’s birth for so many appointments, I’m starting to lose track of them.  One meeting blends into another, and fortunately Bridget is very organized when it comes to the check-ups, so she is able to correct me when I get confused.  I am so fortunate to live not only in Canada, but specifically in Toronto where so many Canadian children with craniofacial differences come to the Hospital for Sick Children for treatment.  I don’t know if I would be able to keep my life together if I had to travel farther than the 5 km we have to go, and even so, I’ve joked about selling our home and moving into a condo across the street from the hospital.

On the off chance that someone else has a child with Apert syndrome and is lost as to what specialists they might want to see, here is a list of the professionals we have spoken to at the hospital or elsewhere:

  • Pediatrician: This seems like a no-brainer, but you might want to find one who is an expert in treating children with developmental delays.  A regular family doctor (and we absolutely love ours) may not have seen anyone with this many challenges all in one body.
  • Plastic Surgery and Neurosurgeons: The cranial surgery performed to separate prematurely fused plates will vary in timing depending on the case, but children with Apert will often need many surgeries to separate the plates, as well as to perform possible mid-face advancement surgeries.  In Marshall’s case, I think the plastic surgeon is doing the work, but apparently neurosurgeons might be involved if necessary.
  • Orthopaedic Surgeons: For the release of fingers, I believe.  Many kids with Apert also have issues with feet and toes.
  • Ophthamologists: The intracranial pressure is monitored to help determine when cranial surgery takes place.  Apert children also tend to have visual problems because, among other things, the eye sockets are shallow (hence, the bulging eyes).
  • Audiologists: Many kids with Apert have some loss of hearing.  We are still not sure about Marshall, as he would not fall asleep during our scheduled appointment.
  • Occupational Therapists: Poor range of movement in the shoulders is very common, and there are frequently delays in walking.  Once the surgery on the hands is completed, children with Apert will use their hands differently.  Some joints will not be there, and they will have to learn different ways to do such tasks as holding pencils at school.
  • Respiratory Therapists: Sleep apnea and elevated carbon dioxide levels might be a major cause of intellectual problems.  The breathing for some Apert children is so obstructed that tracheotomies are performed early and the tubes are left in for years.
  • Social Workers: I have said it before, and I will say it again – the social workers at HSC have been invaluable.  I don’t know how our first social worker got me through the first few days, and the one presently assigned to Marshall’s care is incredible.  He will be lucky to have her to talk to and lean on as a source of guidance and strength.

I’ve probably forgotten other specialists that we have seen, but I’m at the point where one appointment seems to blend into another.  If your child is born with Apert or another condition requiring a lot of care, make sure you know what to ask for and advocate for your child to receive those services.  And thank goodness I live in Canada.

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