Questions and Answers About Sotos Syndrome

What should I do if I think my child has Sotos syndrome?

First, you should pour yourself a glass of wine and use it to chase a couple of Zoloft or Xanax or crack, whichever is easiest to come by in your neighborhood. Then, you should call your local Children’s Hospital and make an appointment with the genetics clinic, as well as one with the neurology clinic as a backup plan. Do not freak out when they tell you the wait is six years. Make the appointments, and then call your pediatrician and see if he can get you in any sooner.

In preparation for the appointment, gather some photos of your kid from birth, 3 months, 6 months, 9 months, 1 year, and so on, every three months. One or two pictures from each time period is all you need. Organize these into an easy-to-flip-through binder and label them clearly. Consider making copies of the photos at Walgreens or Target so that you can actually give the binder to the doctor to become part of your child’s file.

Also in preparation for the appointment, sit down and write up your child’s medical history. Start with the birth, note any NICU stay, what issues were raised. What about developmental milestones? Type it up and add it to your file.

In the meantime, ask your pediatrician for a referral to your state-funded early intervention program, if you aren’t already receiving services. If your child has any developmental delays, early intervention can make a huge difference. Does your kid need physical, occupational, or speech therapy? You can get it for free at your house in most states. Google “early intervention” + [your state] to find information.

Next, remember that Dr. Google and the Interweb are not infallible. Just because you think that your child has Sotos does not mean that you are right. So when you go to the appointment with the geneticist, you can certainly say that you think your child has Sotos, but if the geneticist is absolutely convinced that you are wrong and can provide compelling information to back up that assertion, concede the point. Or go to medical school and make your own diagnosis.

Now then, if the doctors have told you that they suspect Sotos, you will most likely be referred for genetic testing. There are two levels of the test.

The first is a FISH test which is easy and fairly inexpensive -- but which may be inconclusive or negative even if your child does actually have Sotos. That’s because this test ONLY looks for a deletion in the genetic sequence. Sotos can be caused by either a deletion OR by a mutation. So even if the FISH test comes back negative, your child could have Sotos.

The second test is the full-blown sequencing test of the NSD1 gene. About 1 person in 6 who has Sotos (as determined by a clinical evaluation by an expert in the field) will show a normal NSD1 gene. It’s expensive, but it is covered by a lot of insurances.

Will my child be OK?

I really wish I could tell you the answer to that question. Here’s the thing: You’re probably tired of hearing that your child already is OK, that you get what you get, that you will love him the same, blah blah. You know all that. You’re asking a totally different question, and I get it. I do.

It’s really hard to know anything in the early years. What you’re looking for is not only the ability to acquire new skills but also the rate at which your child learns those skills. Do you have to work with your four year old for at least an hour every day for a month to get him to add a single word to his vocabulary? That’s not the rate at which an unaffected child acquires the same skill.

There’s no pill you can give your kid to fix him. There’s no surgery that will cure him. But therapy can make a difference – in some cases, a huge difference.

Sotos is underdiagnosed. That means that there are plenty of people walking around living perfectly normal lives who have Sotos syndrome but don’t know it. And the fact that Sotos is underdiagnosed skews a lot of the numbers, because when you hear that “95% of kids with Sotos will need some form of assistance as adults” you want to crawl in a hole and die. But when you realize that those numbers are based on the patients seen by doctors, who are by definition the most severe cases, you catch your breath and feel your heart rate slowly go back to normal.

Right, so what will happen to my kid when he grows up?

I don’t know.

Does anyone?

No. I’m sorry. Now would be a good time to refill that wine glass.

Well, what can I do in the meantime?

Visit the Sotos syndrome Web site and join the Yahoo! group. Get your kid the therapies that can help him reach his potential. And consider attending the annual conference. Also, you should comment on my blog. A lot. And tell all your friends to read and comment, too.

How will that help?

Just trust me.