motor skill delays, poor muscle control

SaraMarie87

My daughter is 10 1/2 months and cannot head her head steady and does not sit up without support.  She also cannot hold her bottle or reach and grab for toys and has Auditory Neuropathy and Nystagmus.  Her Neuro says he will probably make an official dianosis of CP as far as the motor skill and muscle control issues are concerned if he doesn't figure out the problem.  She has been through MRIs, spinal tap, etc.  Our next stop is a Neurogeneticist.

Does anyone have a child with similar delays and have any ideas or suggestions???  She gets physical and vision therapy weekly but the progress is very slow.

ToastieSimons

DS has hypertonia, vertical gaze palsy, optical nerve hypoplasia, and developmental delays. 

He's been through 2 MRI's, CT Scan, lumbar puncture and we finally went to genetics.  They ran genetic test that will take a long time.  Was your DD's MRI normal?

I would head to a geneticist.  For us they think there is too much going on to just be a brain issue, especially because all of his testing is normal.

We'll repeat the MRI when he is 2 to look at myelination since it can take up to 2 years to mature. 

Therapy progress is slow.  But there is progress.  He can roll over both ways and get up on all fours, he still can't sit unsupported, stand, walk etc.  But this is a huge imporvment over the stiff as a board baby we brought home.  We have a diagnosis of CP too, however, it doesn't really mean much it's a clinical diagnosis.  he has a delay in his brain.  But why?  His is not related to brain damage so now we have to figure out why.

RobinsonMom

Although these could be symptomatic of various issues, my two children began having issues like these.  Both were eventually diagnosed with a creatine deficiency.  MRIs were fine, too.  Chromosome arrays were also fine because these have to be specfically tested for.  Our is GAMT deficiency, or guanidinoacetate methyltransferase deficiency.  There are two others and they all fall under "creatine deficiency syndromes" or "cerebral creatine disorders."   You might want to research or inquire about these, as our type can be treated and damage can be stopped if caught early enough.

Good luck to you. 

SaraMarie87

Wow RobinsonMom...Her Neuro just mailed me a prescription to have both her creatine and guanidinoacetate levels checked in blood and urine but NOBODY I have spoken to has ever heard of it and her neuro said its kind of a longshot but he can't come up with anything else so I was nervous about having it done...I am so glad I decided to give this a shot and post something about it!  So far everything has been normal but there obviously is a problem. 

You said both of your children?  If you don't mind me asking are those your only two children? DId they determine that is is something genetic? Have you seen a geneticist and did they tell you more about this deficiency?

 

Last two questions... 1)What exactly is involved in the urine and blood test for this? 2) What was done to treat it and what kind of improvements did you see?

...ok maybe that was three more questions! Sorry...just very excited to talk to someone that has ever heard of this!

RobinsonMom

That's crazy!!!  It's very rare, so I am just as excited to hear that there may be another family in our small group.  I am in contact with about 9 families from the US and Canada.  Kudos to your doctor for investigating.  We saw docs for years and no one thought about testing for it...even our geneticist. 

 I am going to private message you.