I’ve been keeping a secret.
Back in July I received a Facebook message from a blog reader that set us on an interesting path, one that has the potential to lead to a diagnosis for Maya. I’ve been keeping it under wraps over the past few months, because we had a lot of learning, research, records gathering, conference calls, and appointments to get through before we could even decide whether we were a good fit for this project, and whether we were going to proceed.
Now we’re ready to proceed. So it’s time to explain it all.
As many of you know, we’ve spent a significant amount of time over the past few years (since January 2009, to be precise) searching for the source of Maya’s delays/challenges/ uniqueness/abnormalities. The doctors all agree, “something genetic” is at play here, but no one can put their finger on to what that something is. It’s been a long, tumultuous, exhausting road. She’s been through a variety of diagnostic tests and procedures, including: karyotype (normal), microarray (normal), FISH (normal), UBE3A sequencing (normal), brain MRI (normal), swallow study (normalish), ABRs—that’s plural (normal, then abnormal), behavioral hearing analyses-plural (normalish, normalish, normalish, normalish), EKGs-plural (mostly normal), echocardiograms-plural (normal). And those are just the medical tests that I can remember. Add in the countless appointments, the surgeries, the sheer number of doctors (we send holiday cards to all of them, and they take up a whole section of my address book) and, well, it’s a little overwhelming.
Maya is smart and funny. She is learning and growing and making steady progress, she loves school, she’s walking and making measurable gains towards talking, and overall, she’s a little delight. So, why keep searching for a diagnosis? Why bother? Why not just accept that things are unknown and move on?
Part of me that has fallen in love with being undiagnosed. I love that doctors can’t make assumptions about Maya’s skills or limitations, because no one can presume to know what they are. No one can think “Well, the other kids that I’ve seen with this syndrome don’t talk, so she probably won’t either” or “Kids with this syndrome generally need to stay in specialized schools” or whatever. There’s a smugness that comes with walking into a new doctor’s office and knowing that they will be forced to listen to me just a little bit more closely, because thus far I’m the authority on the Syndrome of Maya. But there’s a flipside, too.
The flipside is that I feel a little ridiculous when I’m asked for her diagnosis and have to say “unknown genetic syndrome.” And you’d be surprised how often I have to say it. School paperwork, insurance phone calls, doctor’s appointments, signing up for special needs events, introducing myself to other special needs parents. At the playground. In the diner. One time a older woman was so taken aback after I said “unknown genetic syndrome” that she actually paused and then sputtered “Oh . . . well, um, have you taken her . . . I mean . . . which doctors have you taken her to?” (Like I was going to run off our list of doctors to a stranger at the diner.) People just don’t understand how, in New York City, with doctors and hospitals generously sprinkled everywhere, a child can be diagnosis-less. A mystery.
And being undiagnosed comes with complications and issues more significant that just my feelings of sheepishness. When I file claims with our insurance company, the generally meaningless diagnosis of “global developmental delays” doesn’t get us very far. GDD can describe a child with a small vocabulary or with no words, a child who was a late walker or who was a very late walker or who still doesn’t walk. It’s too broad, too nondescriptive. To the insurance company, it’s kind of useless—a catch all for kids who don’t seem to have real medical issues. It doesn’t paint our picture. Insurance denials arrive in the mail by the bucketful.
On a similar bureaucratic note, when Maya turns five we will enter a new chapter in the school system (right now we’re in the preschool system, but turning five transitions us to the big league). By the time she turns five, we will struggle to find the best school placement for her, and fight to ensure that she is granted the therapies and services that will assist her in school. Can we get these services without a clear, medical diagnosis? Yes, in theory. Is it more difficult? Oh yes. Yes, it is.
Finally, but most importantly, there’s the most compelling reason to find a diagnosis. Undiagnosed life . . . well, it can be dangerous. Some syndromes come with complications that develop over time . . . seizures that don’t start until puberty, degenerative hearing or vision loss, chemical imbalances. It would be helpful to know if that stuff is on the horizon. Also, there are syndromes that are now treated with preventative medications, vitamin therapies, and all sorts of ways to be proactive . . . if you know the diagnosis. If you know what you’re up against.
And so, we kept searching, periodically. Taking breaks, but returning to Google and online forums and genetic websites. Talking to other families, talking to doctors, keeping an eye out.
That brings us to this summer.
To be continued . . . the second half will come tomorrow.
Added: I'm not trying to make a cliffhanger here, the story is just too long for one post.
Have been following your story, and am on the edge of my seat for the next installment!
Talk about a cliffhanger!
That is *definitely* a cliff-hanger!
I'm on the edge of my seat!
You had me at hello and you are speaking for so many of us. While I get the joy of celebrating my son for the unique individual that he is, you're right, everyone wants a word for it to qualify him for stuff. Ugh. I've made peace with my journey w/o a diagnosis (until I hit the next brick wall or medical surprise) and I can't wait to read about your and celebrate more of Maya's successes!
This is SO a CLIFFHANGER! You're killing me...can't wait to see part 2!
No fair! ~stomps feet~ Total cliff hanger!
Yes this is a cliffhanger, but I'm sure living without a diagnosis has also been in many ways a cliffhanger.
Total cliffhanger. Will be on the lookout tomorrow.
Looking forward to Part 2!
i am SO looking forward to tomorrow's post.
As another parent of a child with a basically undiagnosed condition (well....encephalopathy and seizures is a diagnosis, but not the one all the qualifiers want...)I am anxious to hear what you have to say......
I hope this leads you to the answers your are looking for.
ACK! The only thing worse than this is waiting on the drs office to call back!
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