When a Special Needs Parent Asked Me If She Should Seek a Diagnosis

None of us want to be labeled. We’re individuals and want to be treated us such, and rightly so. But is it always something that we should be scared of or avoid? Calling me a white, British stay-at-home mother, for instance, only scratches the surface of what I’m all about, but those labels are still true. They don’t define me, but neither should I reject them entirely.

Of course, there are times when labeling others is much more contentious. While there are parents who have fought for years to get a diagnosis and may never find one, when it comes to delays in any developmental areas, some parents can be nervous about seeing their children put in a box and confined to a narrow description. Recently someone on a special needs Facebook group that I’m a member of, posted to ask whether they should seek a diagnosis for their child or not. I answered with a resounding “yes,” and these are my reasons why:

1. It avoids other labels.

As much as we might not want our kids to be limited by a label, sometimes it is better than the alternative. My son had the opportunity to start at the local school’s nursery last September, but we had to make the decision back in May. This was before we got his diagnosis, and before we had a My Support Plan (non-statutory document identifying special educational needs) in place. I worried the move from his current pre-school to a smaller room with more children could lead to an increase of his more challenging behaviors — pushing, throwing hitting. I didn’t want him to start out on his school career being labeled as a “problem child,”or “that boy who hits me all the time” or “the naughty one.”

Now that he has been diagnosed with Mucopolysaccharidoses (MPS), it is accepted that his behavior is a result of his condition. I’m now looking forward to him starting in mainstream school full-time in September knowing that other children, parents and teachers will be able to approach him with more understanding.

2. It makes getting support easier.

In theory, support in education, health and other areas should be available for everyone who needs it according to their symptoms and presentation. However, as anyone reading some of the many excellent posts written for Undiagnosed Children’s Day last month will have realized, not having a diagnosis can make accessing support so much more difficult. Hopefully things are moving in the right direction now, but unfortunately it’s still easier to jump into a box in order to get help. And heaven knows, sometimes we really need that help.

3. It can be a lifesaver.

Yes, this is my main reason. When I first tried to get some answers about my son’s delays, I was told that he had no problems and shouldn’t worry. But, I knew he looked a little bit different from his peers and was falling further behind. I tried again and again, and eventually got an appointment with a pediatrician who had more knowledge and understanding of genetic disorders.

The fact is, many rare diseases are first misdiagnosed as other conditions or masked by concurrent problems. I’ve heard of other boys with Hunter Syndrome (MPS II) like my son who have gone for years being told their issues are due to autism, or hearing problems or Crohn’s. These are years when their bodies were being progressively destroyed by the build up of waste products, years when they could have been receiving treatment to halt those symptoms.

Not all rare diseases have treatments yet and most have no cure, but new clinical trials are coming online all the time. My son is on one now, and if his diagnosis had come any later, it is unlikely that he would have made it through the assessment criteria. If this new drug works, it will indeed save his life.

I very much hope your precious child will not receive the diagnosis of a life-threatening disorder such as MPS. But, I would say follow your instincts. If you think there may possibly be reasons behind their delays, it is worth looking into. Although I never expected a label as scary as genetic, progressive and life-limiting, I am so glad we found out now rather than when it was too late.

MPS Awareness Day is May 15.

The Mighty is asking the following: What’s one thing people might not know about your experience with disability, disease or mental illness, and what would you say to teach them? If you’d like to participate, please send a blog post to community@themighty.com. Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Submit a Story page for more about our submission guidelines.