Funny story.
There's this family: mom, dad, daughter. Everything's hunky dory during the first couple years. Daughter looks normal until shortly before her second birthday, when she - for lack of a better word - "crashes:" loss of language, attention problems...the light in her eyes goes out.
So what do the parents do? Everything they can think of: tests (MRI, EEG, chromosome work-ups) and visits to the pediatric neurologist seem to confirm what everyone's been telling them: she's autistic. Going by the advice of the neurologist, the parents start her on applied behavior analysis and speech therapy. The prognosis is uncertain, but they're willing to do whatever it takes to help her.
And yet, all during this time the parents - specifically the mother - question the diagnosis. The daughter just doesn't look like the other kids at her school. Her comprehension comes in and out when it should be consistently absent. Same with language. They mention this to the second neurologist (long story), and he tells them no further tests are necessary. And why should they doubt him? He's one of the best in the world in his field.
The one person who doesn't brush them off is the daughter's pediatrician, who has consistently been the only person to give them honest/thoughtful feedback. She recommends yet another neurologist, who actually turns out to be in a different field, but through this doctor they get to the fourth neurologist, who schedules another EEG. The results come in, and they're similar to the results of the one the daughter had done two years earlier. Only this time, the "abnormalities" that the previous doctor found "benign" are anything but. The parents are told the daughter has a neurological disorder called Landau-Kleffner Syndrome, which affects the parts of the brain governing speech and comprehension. More importantly, many of its symptoms mimic autism.
This comes as a bit of a surprise to the parents, especially when they're told it can be treated with anticonvulsants. The doctor is unwilling to give a definite prognosis because, well, he's a doctor, but there are indications that some of the daughter's problems with attention and learning can be overcome. Even better, seizures generally stop around puberty. She'll still need speech therapy, and will require a ton of work to get her even close to her peers in terms of development, but there's a chance. And that's more than they thought she had six months ago.
Good news, right? Everyone the parents have told seem to think so. And so it is, but maybe the parents can be forgiven for wondering why it took two years and - literally - a hundred thousand dollars to come to a correct diagnosis? Why the leaders in pediatric neurology and childhood development at UTMB and Texas Children's were so eager to dump their daughter in the "autism" bucket and wash their hands of her? And what happens to kids whose parents expect the "experts" to always have their child's best interests in mind?
Never mind, I think I know the answer. Now that I think about it, this story isn't all that funny after all.
That you got a diagnosis that makes more sense of the symptoms is good, no matter what the time and effort to get there. Y’all are in our hearts and we hope this gives you new opportunities and that you can seize that chance.
Like Michael, I’m glad y’all have gotten a more accurate diagnosis after all this time. Beyond that, yeah, I’m right there with you. Not funny at all.
Forgive me if I’m teaching your grandmother to suck eggs here, but are you familiar with: Rob Rummel-Hudson’s blog and his book, Schuyler’s Monster? Similar story, also not funny, but I’m guessing it’s a case in which knowing your audience has heard this one might be comforting.
Jesus…as the Gin Blossoms once stated, “Congratulations, I’m sorry.”
sheesh. (I could write so much more, but I think that covers it.)
I’m so glad that answers are finally coming, and I’m so glad your pediatrician took an active interest. It is so frustrating when you go to an expert, expect them to know the answers, and then later find out that they just don’t. My family tends to view doctors as all-knowing, and sometimes, they just aren’t. I’m pissed that they missed something and you wasted time and energy. It is really good that you are figuring things out, but it really sucks that it took so long, especially when you were actively trying to pursue things. We have TCH and the Medical Center here, for pete’s sake! Keep trusting your gut and advocating for your daughter. It shouldn’t have to be that way—I wish the doctors were just taking care of her—but it is.
I would be as frustrated as you. This is still a step back from plain awful, though. Good luck; you and your family are in my thoughts.
“Hi, everybody.”
“Hi, Dr. Nick.”
A second thought. The top Google hit for Landau-Kleffner, an NIH site, said that there have been only about four cases per year since the syndrome was identified. It is maybe not much of a surprise that it took a while for somebody to think to check.
That probably doesn’t help, but it’s what I do.
If anyone could catch up to her peers after having to overcome such overwhelming setbacks, it would be someone with parents like you two. I hope the meds kick in and she starts to show improvement soon. My thoughts are with you, as always.
I am glad you are getting some good news and understand your anger. I wish medicine were less a guessing-game and more the science it claims to be. I’m thinking of you.
I’m glad that you are finally getting some real answers. When I hear stories like this I always think about the people that can’t afford to pursue the answer as you have. I think I would find myself in that category. It is a shame that we can’t trust the first answer to be the right answer and that people have to fight for the right help. I wish her the best of luck with the new treatments.