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My daughter has developmental delay of unknown cause. They have tested her for all sorts of things, but they have all come back negative. We've done tests for thyroid, muscular dystrophy, karyotype, CNV microarray, autism, neurology, apraxia, audiology, genetics, and the latest test is for Fragile X.
It's all the waiting that kills me really. It feels like this whole process is hurry-up-and-wait. Let's test her for this, wait months for the appointment, then wait again for the results, then when they are negative move on to the next thing and repeat. It makes the whole process take a very long time when we have to wait months between appointments. And the more specialized the docs, the longer we have to wait to see them. I remember when I thought the 3 month wait to see the neuro was a long time. Then I thought the 6 month wait to see genetics was a long time. Now it is going to be at least 8 months to see the developmental ped next. It just keeps getting worse! I'm so sick of the waiting. I just want to know something!
The results of the Fragile X test were supposed to be in after 2 weeks, so I called to find out if they were back yet. They told me that the test they had done at Duke (PCR) was inconclusive, and they needed to send the sample out to the Mayo Clinic to do a different test (Southern blot). So it will be another 2 weeks before we get the results back. More waiting.
I can imagine how frustrating this is. Hopefully you will know something soon. I was wondering how old your child is though and what issues you are having. Maybe it would help to talk more about it. We have an adult son with Down syndrome which we adopted. I know when they did his testing, even when they got results, some refused to believe it and yet, it is pretty easy to diagnose and generally evident without performing a test. Even my own relatives thought the tests were wrong. I do know now he doesn't communicate well so when he is having an issue, it makes it very hard and I just want to know what the problem is but get blank stares from the professionals. I hope you learn something soon.
She is 2.5 years old. She has had a global developmental delay including speech delay and gross motor delay involving core hypotonia, which were identified at 12 months. She has tested cognitively delayed in the past, though her scores increased last time to 80, so her low score there could have been related to her speech delay. Her therapists have suggested that motor planning and spacial reasoning may be underlying issues. I feel that her speech is the biggest concern at this time.
Hi Adventive: Is she in the state's Early Intervention Program? As a retired service coordinator in the AZ program, I can assure you I saw lots of little kids with no specific diagnosis and it didn't matter one iota. What you need to concentrate on is giving your child the extra help she needs to get up to speed. If its speech and PT, allow the therapists to teach you the home program and work with her in between therapy sessions. If possible, use your own insurance to supplement whatever NC provides for her and give her extra sessions. Sometimes it takes time to realize just what the disorder is. But if you know what the delays are, you can work on that aspect without a formal diagnosis. That's what really matters.
Yes, she has been enrolled in early intervention since 13 months. For the first year, our sliding-scale fee was 40% responsibility, but then the state changed the way the scale works and now we are responsible for 100% of the cost. When that happened, we dropped the PT and the developmental therapy and just kept the speech (at 2x per week) because it was going to be too much and we felt like she needed that one most. Our insurance does cover 75 therapy visits per year with a $20 copay, which is better coverage than most, but we still use more than that. After we run out of insurance visits, we only have to pay the medicaid rate (instead of the full rate) because we are in the early intervention program, but that is the only financial assistance we see now.
In a few months we will be transitioning out of EI and into the school system/ IEP program. The eligibility for that program is different, so we don't know if or how much she will qualify for in that program. The official line seems to be that a diagnosis is not relevant to qualifying for the program, but the off-the-record word-on-the-street is that it probably would help her get more services if she did have a diagnosis.
My daughter, now 17 years old, was first diagnosed as PDD-NOS, then PDD, then autistic. She also went thru all the same tests. All negative. I was told she would never walk (because of the hypotonia) and probably never talk. Ha! Were they wrong. I have no reason or cause for why she is the way she is. But one thing I can say is she amazes me every day with who she has grown into. She talks in complete sentences, makes eye contact, walks on her own (except for long distances which she uses her wheelchair) and is very independent. My advice, doctors don't know everything and every child is different. Apply for SSI (which she will get Medicaid if approved) and take it one day at a time.
As an update to this, the Fragile X test took 2 months to get back, but finally did come back as negative. This month we had another speech eval, and this one wants to diagnose her with apraxia. Which was unexpected because I thought we had already ruled that out. So now we are going for a second opinion on that.
We got a cancellation appointment at the developmental peds and will be going there this week, so I wonder if that will give us a few answers.
And the IEP team agreed to evaluate her for a whole bunch of things, so that is going to happen soon and then I will find out in 2 months whether or not she qualifies for that program and what services they will provide if so.
So, things are definitely moving along right now!
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I do know now he doesn't communicate well so when he is having an issue, it makes it very hard and I just want to know what the problem is but get blank stares from the professionals. I hope you learn something soon.
