“Be the expert.”
A platitude I’ve echoed in my head as I venture into uncharted territory.
My general lack of direction over the years has created ample opportunity for this self-talk.
But I’ve never qualified as an expert. Always onto the next horizon before my “10,000 hours” arrived.
Then I became a dad.
The fit was precise. Love, purpose, direction – the missing ingredients I never knew were missing.
The search for meaning (conscious or unconscious) was over. I knew my path to 10,000 hours – be the best dad I could be.
I didn’t really need to be an “expert.” I just needed passion.
When actual experts confirm that I am the expert – not by choice, but by necessity – the implications are profound.
Almost two and a half years ago, The Mrs. and I shared an update about Awesome Mack – developmental milestones had been missed and the search was on for a cause behind those missing milestones.
That search has led us down a path with developmental specialists, neurologists, geneticists, dental exams, ex-rays, MRI’s, sight tests, hearing tests, PT, OT, speech therapy, blood tests, genetic tests …and ultimately THE ANSWER.
Never heard of it? You’re not alone.
Mack was the 53rd diagnosed case of this genetic syndrome – in the world!
But the numbers are growing. We see new members added to the FaceBook support group on a regular basis. Genetic tests are improving, and SATB2 is making waves (ripples?) in the genetic community.
What may have once been categorized as Autism (Mack was almost diagnosed), may have deeper genetic meaning.
Public Service Announcement: If you know a child – perhaps diagnosed with autism? – with no speech and some crazy teeth, a genetic test is probably worthwhile.
What to do with a SATB2 diagnosis?
Become the expert.
With so few diagnosed cases, the parents are the experts. We are the living lab. The doctors defer to the parents.
To begin, we have become very good at expounding the SATB2 highlights:
- A de novo (anew – not passed down from parents) genetic syndrome that alters the SATB2 gene.
- SATB2 gene regulates other genes. As a result, altering the SATB2 gene can alter other genes.
- There are three ways the gene can be altered – deletions, duplications and mutations (“misspellings” within the gene).
- A Dr. in Arkansas is currently compiling a study of the known cases.
- There are commonalities among the diagnosed cases, but the sample size is small and much research is needed…assuming the medical community stays interested and funding materializes.
- Nonprofit? Another topic for another time.
- Common characteristics: developmental delay, speech delay, dental abnormalities, behavior abnormalities.
- A common theme but a wide spectrum.
It feels cold to discuss statistics, characteristics, and cases. But that’s what experts do, and that’s the world we’ve been thrown into.
A technical mindset is a must to navigate the medical, educational and financial aspects of a lifelong march into uncharted territory. We need to work within large, established bureaucracies, and we need to fight for our needs. We need to speak their language. We need to be the expert.
But that technical mindset doesn’t change the fact that this group paving the way into uncharted territory is full of children, parents, sisters, brothers, aunts, uncles, Grandparents, and friends. People.
We’re not just cases and numbers lumped into studies. We are the experts, but we are also the emotions that lie beneath the surface. Our determination creates a suit of armor difficult to penetrate, but our love for those we fight for keeps us vulnerable.
A paradox that can be difficult to manage.
Finding the SATB2 answer has removed a small piece of hope – hope that things could all of the sudden be “normal.” Perhaps hope is overrated.
More important than hope, knowledge gives us the will to fight for what we believe in. The determination to overcome the odds. The courage to march into uncharted territory.
The strength to be the expert.
Where does Jasper Mack fall into all of this? Speechless.
- Mack has a “misspelling.”
- Because there are a lot of chromosomes that could be “misspelled” and there are so few cases, Mack is literally the only known case with his specific diagnosis.
- MRI at 1 year showed abnormal white matter on his gray matter. MRI at 2 years showed no change. No regression – great. But why abnormal…who knows?
- A few other cases show abnormal MRIs, but not all. No conclusions.
- The Mack Attack is full of love. His “behavior abnormality” seems to be overly happy and friendly. Always smiling. Loves hugs.
- Although he does have his breakdowns, and other experts (IE parents) have indicated that frustration seems to build with age – one theory is the lack of speech/communication aggravates…seems sensible.
- Jazzy Mack has no speech. Sounds, but no words. We’ve been working on signs (and speech) for almost two years, and he is only consistent with a few. We are also in the process of being approved (add insurance to our list of expertise) for a communication device – a board with pictures for Mack to choose from.
- We are told that his receptive language is higher than we may know. We believe this to be true, but with little communication, it can be hard to tell what “sinks in.”
- Mackie Mack has decent gross and fine coordination, but not perfect. A lot of PT and OT has improved but not corrected this. The work continues. In the end, it could be neurological, but who knows?
- The Boy eats like a champ and is almost as tall as his bro 2.5 years older, but he’s thin and does not gain weight easily.
- Mack has 4-5 days of therapies per week – speech, PT, OT, and he has a full-time aide with him for three days of preschool.
- Progress is being made every day. It may be slow, but it’s progress.
We may not seem like experts. We may not act like experts. But when it comes to SATB2, we are the undisputed experts. And our expertise is growing daily.
Why us? Why Mack?
Natural questions, but not worth the energy. No one has the answer, and the answer doesn’t matter.
This is our world. This is our fight. This is our Mack.
Our family is exactly the way it should be. Mack is exactly who he should be and exactly where he should be. We are stronger, better people because of Mack.
I relish the opportunity to be the expert that I need to be.
Update: Mom & Dad interview…
PS – It’s funny how life gives you what you need when you need it. Coincidence? Synchronicity?
While you wrestle with that conundrum, check out the trailer for an ABC show called Speechless. A great view of being the expert. We can relate…