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.
I’m so glad that we have our “tribe.” Families who have children with special needs that the medical world has not yet been able to expain may find http://www.undiagnosed-usa.org/ helpful when searching for a diagnosis and connections with others who are searching.
Thanks for the resource. We did suggest a diagnosis to our geneticist but it took a couple of years before my son had enough symptoms to officially qualify for the diagnosis. In retrospect, I wish I had just joined the “tribe” as soon as I suspected.
I’ve been doing a lot of reading about these “tribes” for my own diagnosis and it really is an incredible time we live in, with all of these ways to find others who share our same concerns, joys, special language, and understanding.
I’m going on 18 years with this and I’m just now starting to feel connected. I’m glad you have the same kind of support. It makes all the difference.
I love your offer to enfold the undiagnosed in the loving arms of your tribe! Dx for me meant finding a lot of info, but a “tribe” that was too large and sprawling, nomadic even, with which to roost. I guess I’ve found that finding the tribal parents who have similar outlooks to mine, will help to narrow the pool.
Absolutely — not everyone with the same dx will be the perfect match, but even having the pool of people from which to then begin to search for that special someone who “gets it” is priceless.
I agree with you completely that finding a “tribe” of other parents online and in your community can be one of the upsides of a diagnosis. With our son’s diagnosis, it’s easy to find other parents (too easy as there are so many kids now on the autism spectrum) but with our daughter’s diagnosis(es), it is rare and so far, I have not found that community. It’s especially difficult when dealing with one child who has multiple diagnosises. But just knowing that I am not alone in parenting special needs children makes such a huge difference!
Sharla, do you feel like your experience parenting a child with a more common diagnosis helps you with parenting issues with your child with a less common diagnosis? It feels like certain parts of the journey are almost universal (learning how to read an IEP, for example) but others must be really specific (like finding the right doctors and resources). I do feel like the stuff I learn for my son, who has a fairly wide range of special needs does help me parent my daughter who is typically developing (although I’m feeling less and less like there is such a thing!).
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