Q

[Guest guest]

Hello everyone. We have gotten some test results back for our first

round of tests as ordered by the neurologist.

Thyroid screening: Normal

TCD: Normal

EEG: Normal

Chromosomal Assay: Normal

We asked the neurologist specifically, does this mean he does NOT

have MDS? She replied that he definitely shows some mosaicism but

the chromosomal assay results were indeed normal.

I asked her then about the other tests: skin and bone marrow. She

replied that our insurance will not allow for the other tests because

his assay results were normal.

She mentioned spastic diplegia as a possible cause for his

neurological sensitivies and slight diminshed fine motor skills and

ordered an MRI to rule out cerebal palsy.

SO...

Would you all be willing to let me know if your chromosomal assay

came back normal and then further testing revealed MDS? It might

also be helpful if you were willing to share the percentage of cells

at T21 in these cases. I respect your privacy, so please don't feel

obligated. I am simply hoping to get some information together in

the event we don't get a diagnosis of any kind and MDS still seems to

be the only answer, despite the assay results. Information is ALWAYS

useful to garner satisfactory results from insurance companies...

Other testing results:

Neuropsychology:

finally finished IQ testing and the other screening after 8 hours!

UGH! he really had a hard time focusing. We get her final results

analysis on Friday.

Orthopedist:

Says that no five year old will keep AFO's on so it would be useless

to prescribe them. Also said, that unless he DOES have CP, he won't

be toe-walking when he's 20 so we should relax about the toe-walking

issue. A quick review of his hamstrings and dorsal flexion and he

sent us on our way with some hamstring stretch diagrams.

Anyone else have suggestions? I was thinking that maybe some stiff-

soled shoes might help too. What have ya'll done to curb toe-walking?

Occupational Therapy:

He LOVES this and looks forward to it every week. He is progressing

slowly. We were delighted when he was able to master the skill of

touching his pointer finger to each of the other digits in his

hands... and then did it with the other hand too! It takes him some

time and he really has to concentrate, but he thinks it's cool that

he can do it. He is also trying very hard to hold utensils and

pencils correctly and is finally succeeding!

Desensitization Brushing:

AMAZING! He has " come down " hyperactive wise by at least 50%. But

we have to keep up with it or he starts to spiral out of control

again. But hey, he can sit still through almost all of supper now!

Donut Cushion:

The OT has recommended we get him a special " donut " cushion for when

he's sitting to help stop the jiggling. Anyone else tried this?

What's your opinion, etc?

Speech:

We're taking the summer off from therapy. I will be reviewing his

skills with him this summer. I think this is the best choice for him

right now. Besides, the pathologist and the neurologist both agreed

that reading with him and getting him to verbally respond with

comprehension questions and word parotting will probably be more

effective anyway.

Kindergarten:

PHEW! This is coming up in August and we don't have a clear

diagnosis yet! Can I say I'm a little apprehensive? BUT, I'll send

him off anyway and we'll just go from there.

Suggestions, opinions, helpful thoughts, your chromosomal assay

results, etc PLEASE PLEASE PLEASE!

Thanks

Jennie

mom to Jessie (6), (5) MDS?, Maren (2)