Yesterday we spent the day with what I affectionately refer to as our “tribe” – a group of families who all have a child with the same genetic syndrome as our son. We hung out, had lunch, chased kids, talked shop, gossiped about doctors, shared resources, marveled at similarities and empathized about shared challenges.
Although my child with special needs is nearly nine years old, we didn’t become members of this tribe until about two years ago.
I refer to our pre-diagnosis years as our “Whack-a-mole period,” when we had enough random symptoms to know that our child probably had some sort of medical syndrome, but nothing that appeared on battery of genetic tests for the usual suspects and not enough symptoms to qualify him for any clinical diagnosis.*
At each annual checkup I would brace myself as his pediatrician scoured his body for new and exciting symptoms. Shouldn’t his fontanelle be closed by now? Let’s go to a neurologist. Is that a heart murmur I hear? Quick, to the cardiologist. Aren’t those kidneys too small? Let’s call this nephrologist. Trouble chewing? Let’s go to Ear, Nose and Throat folks. Or Gastro-intestinal. No, let’s do both. Oh, and let’s not forget the therapies — speech, physical and motor. Let’s just spray and pray, cover all of our bases.
Knowing what your syndrome is can be helpful because it lets your doctor know what else to look for. But we had the most vigilant doctors in the city known for vigilant doctors and I wasn’t worried that we were missing any symptoms. Even without an over-arching diagnosis to act as a treasure map, all of the symptoms were being identified and treated. Who needs a diagnosis? It’s just a label, and we’ve been raised to see labels as limiting, so who needs that?
Besides – a diagnosis, I was told, doesn’t often give a prognosis or helpful idea of what to expect for the future. Two people with the same genetic mutation can often experience wildly differing symptoms; even if they have the same symptoms, the severity of the symptoms can differ from nearly undetectable to life threatening.
Eventually though, as new symptoms appeared, my child did receive a label for his particular constellation of features. As predicted, getting a particular name for his combination of symptoms did not really give us any meaningful prognosis, and it didn’t reveal any other symptoms – apparently my pediatrician is pretty good!
I’m not leaving out the actual diagnosis in this post and on this blog to be obtuse, but because it’s beside my point.
The point is: because of the diagnosis, I have a tribe! On-line or in person, on a list serve, on Facebook or at an international conference, there are some people who share an appreciation for my child’s mysteries and gifts, and I care about theirs.
After our family gathering was over yesterday, three of us moms hopped in a car and drove across town to visit another mom in our tribe whose daughter is spending more time in the hospital than any child deserves. If you lined our children up beside each other, you probably couldn’t even tell that they have much in common. But here we were, together in spirit always, in person for the day. Without that label, we wouldn’t have been.
The label does matter. If not for any medical reason, a diagnosis helps parents connect with other parents.
To all those folks out there who are raising special children while waiting for a diagnosis – I leave this blog anonymous especially for you. Maybe while you’re waiting for a definitive answer, you can join my tribe. Hopefully the medical folks or the therapeutic experts can cover the symptoms while you wait. But don’t let them tell you a diagnosis doesn’t matter. Maybe it doesn’t matter to them – but it does help you find support. In the mean time, I’m listening.
*For the interested lay folks out there, there are two ways to receive a diagnosis of a syndrome: one can have what’s called a genetic diagnosis, where blood is drawn and taken to the lab and a mutation is found on a specific gene; or one can receive a clinical diagnosis, where a person exhibits enough, but not all, of the possible symptoms associated with the syndrome. Not all genes of all syndromes have been identified, so often a clinical diagnosis is the best one can hope for.