Tag - doctors

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Our Spectrum Revisited
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Waiting
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Mighty Mito

Our Spectrum Revisited

Over the last year, Sam has made so many strides that his dad and I started to wonder if maybe he was losing his diagnosis. It is one thing to discuss it secretly between us, but quite another for his developmental pediatrician to say, “If he were to be tested again, he might fall off the spectrum,” as she did at our last visit.

So we got on one waiting list after another — for OT and speech assessments and the ADOS, or the Autism Diagnostic Observation Schedule. This is probably the only test that the boys have NOT had and it’s supposed to be a pretty good indicator of ASD, especially with very verbal kids like Sam.

Six months came and went and still no appointment for the ADOS. One day Kennedy Krieger Institute called to ask if we’d participate in a new research study, one that looks at identical twins to see if environmental factors, but not vaccines, might have something to do with “turning on” an autism gene. And could they administer the ADOS to both boys at our convenience?

I have always wondered if John’s early years in the hospital had something to do with the severity of his autism, if maybe a MRSA infection in a 4-month-old baby followed by a four-week course of vancomycin might have contributed in some way.

This study might show that it did.

Not that we would have done one thing differently back then. John needed heart surgery. Because of it he got a staph infection, but without the drugs to treat it, he would have not survived.

But what if we had known that John would be susceptible to developing autistic disorder if his tiny body experienced such trauma? What if even a little extra care in disinfecting his room, the crib slats; limiting visitors to just his parents — what if it could have prevented the MRSA infection? I have no doubt he’d still be on the spectrum, this is just what I believe — but would he be more like his brother?

And will this make me grieve if I find out?

I often come here simply to share something in our lives only to find that I’m not sure how I feel after all.

Waiting

I sit, I wait. And wait and wait. You’d think I’d be expert at waiting by now, and I may be, but I’m immensely unhappy about it. Tick tock. We went to the metabolic specialist as scheduled two weeks ago. Still waiting for the results! It’s been hard for me to blog lately, I am just so preoccupied … with this, with our schedule, with our upcoming IEP meeting.

I wish I had posted right after our doctor’s visit, because John was amazingly good for the pricks and prodding. He had to fast overnight before the first round of tests which turned in to 15 hours by the time it was all said and done. Happy boy. No, really! He even sat a very bustling restaurant amid the din of humanity — no tantrumming! — for his prescribed high-protein lunch (two scrambled eggs and a yogurt smoothie) before returning to The Lab of White Coats for more pricks.

On any other day, any one of the many stressful events of that morning (which began at 6 a.m. when I whisked him out of bed for our trip) would have created a torrent of dysregulation, but he took it all in stride. Which is why we only took John. His brother would have not handled it all this well. It’s fascinating that because they are identical, the doctors only needed to test one of them. I think, though, that if these tests keep pointing us in this mito direction, that they will also need to put Sam through it as well.

You might say, I’m a bit dysregulated with all this waiting. Hoping it ends soon.

Mighty Mito

I don’t know what to think. We keep getting phone calls from our doctor. Now, there’s a switch. It’s usually impossible to get them on the phone, but here they are, looking for US, they want us to come to them.

We repeated blood work and added some urine to the mix for good measure. This was about a month ago. The results indicate that we’re heading down the path they thought we might be headed down, the one called mitochondrial dysfunction. A brand new world of internet research for me to explore. Goody.

This is what I’ve learned. Mitochondria are the powerhouse of the cell. Mitochondria are inherited only from the mother, not sure why. Their autism could actually be caused by this dysfunction. The dysfunction, which could become “disease” someday, and hey — not only in them, but in me too. So much information.

They have called us back for more blood work and urinalysis, an all-day event that’s sure to cause much dysregulation all around. Can’t wait. I know perhaps I sound flip, but really, I am very anxious for this doctor visit. Something that might be treatable? No, not a cure, but a therapy that might make a nonverbal boy verbal.

Stay tuned.

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