mama whose curiosity knows no bounds

Posts tagged ‘developmental age’

Journey with K: 18 months to diagnosis #9

After the serious-faced psychologist was gone, we had some break.  I spoke to my husband that K must be autistic.  And then, he responded, “who knows? result is not in, yet.”  Yes it was.  It was all in her face.  I was irritated by his denial attitude.

The developmental pediatrician walked in.  She did other testing (later found that Mullen Scale of Early Learning) as well as physical exam.  She was cheerful along the way.

Then she walked out.  After a while, she and the psychologist walked in.  The developmental pediatrician said that they need no additional testing by OT and SLP waiting and watching the whole exam from some other room. The psychologist’s eyes were wet and she was apparently trying not to cry, she faced upward, not looking at us at all time.

The developmental pediatrician started speaking.  I really don’t remember everything, but I do remember, “are consistent with Autistic disorder”.

There you go.  The verdict is in. I think this is a sort of self-protection mechanism. I felt as if I observed myself from outside.  Then she started speaking like (parenthesis is the voice I heard in my semi-hallucinated state):

  • K’s developmental age is 21 – at 30 months, this is considered HIGH FUNCTIONING. (“Hey, what does it mean to you?”)
  • K could be a genius and live independently or he could end up in institution.
  • K’s diagnosis is NOT PDD-NOS or anything, it is AUTISTIC DISORDER (“Don’t be so hopeful, lady”)
  • K needs to have ABA therapy right away (I didn’t even know what that is). UC Davis must have an intern referral service.  Ask ALTA regional center for more.
  • You need to come back in three months to make sure ABA IS IMPLEMENTED. (“Okay, it MUST be A.B.A.!”)
  • Sensory integration therapy is a simple desensitization and there is no evidence that it works (“I have no time for a quackery, ma’am”)
  • You need to have the pediatrician order “Fragile X testing by KARYOTYPING” (“Otherwise, I can add your son to my data! So re-test at your and your insurance’s expense”)
  • You need to have him order “chromosome 15q duplication by FISH probe. (“Well 15q will be HOT and will my paper go, well, Nature?”)

Probably I should explain the last two.  K was tested for Fragile X syndrome by PCR, cheaper, slightly less accurate, method. Fragile X is the most common genetic cause of intellectual disabilities and autism among boys.  X chromosome, one of the sex chromosome (the other is Y) of boys with Fragile X syndrome has a three nucleotide sequence repeating thousands of times.  Then that repeats do not fold properly before cell division like all other regions of chromosome, thus, if the chromosomes right before the cell divisions are looked at, the X chromosome will look to have a fragile region.  This is called Karyotyping.  It takes cells to stop at the cell division stage and needs to look at multiples cells to verify it.  Therefore this is labor intensive and expensive.  On the other hand,  PCR (polymerase chain reaction) is just amplifying that repeats.  It is much less labor intensive and less special skill is required.  The developmental pediatrician–I’m positive about this–asked to redo the test at our expense so that in HER paper can say, “all the subjects were ruled out of Fragile X syndrome by karyotyping.”

15q duplication was less offending to me.  But there wasn’t enough evidence to justify that IS the abberation that cause autism.  Therefore, the doctor was collecting the evidence — again, at our own expense.  FISH (Fluorescent in situ hybridization) uses a short synthesized DNA with fluorescent dye that can bind to that duplication area of chromosome 15. This is even more complicated technique. Now most everyone can do it, but at that time, only select lab can do it.  So ordering must be really expensive.  Since K was covered with HMO and it somehow covered these, we didn’t pay anything, and we didn’t receive any explanation of benefit to see how much it costed. But both my husband and I are biologists, though we were biochemist specialized in DNA metabolism, not a cytogeneticist, we understood that much. So I couldn’t help but felt we were “samples” to her.

Anyway, the verdict was over, so we arranged the follow up appointment, and headed home. It was well past 2pm. K was exhausted and asleep. I cried all the way. My husband didn’t say anything.

To be continued.



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