Patricia Naylor's Page

Are you a patient, relative, friend, or medical professsional?

Relative

What type of ataxia do you have?

truncal ataxia and mild limb ataxia

When were you first diagnosed?

November 2, 2007

Have you been formally/medically tested for ataxia?

Yes

Is your ataxia progressive?

Not Sure

Is your ataxia hereditary?

No

If hereditary, do other members of your family have ataxia?

No

How has ataxia affected your quality of life and ability to work?

My son has delayed gross motor skills and speech since birth

What affects your ataxia (food, stress, etc)?

fatigue and stress

What other ataxia support groups do you belong to and would recommend?

this would be my first one

How has your family responded to your ataxia?

My whole family is trying to help my 4 year old son

What medication or treatments do you find helpful?

He is currently on levadopa and Depakote

Please share your story with the community...

My husband and I noticed our son Luc( pronounced like Luke) was not hitting his milestones at around 5 months of age. He was late rolling over, sitting up, crawling etc...At around 5 months of age we noticed his eyes roll up at the back of his head and they would stay there for seconds at a time. We had his eyes checked with an optomologist which turned out normal. He started having generalized tonic convulsions in the setting of a fever at about 13 months of age. Over the next year, the eye rolling episodes continued with some improvement in his generalized tonic-clonic seizures. He was put on seizure meds such as Keppra and Valproate which did not seem to help much. He has had extensive testing workup including a right muscle biopsy and several MRIs. Everything has come up normal except for delayed myelination in the brain with normal spectroscopy. Currently, at 4 years of age, he is walking with a gait walk and with decreased truncal and appendicular tone. He is a 4 year old functionning as a 2 year old. He has low muscle tone in his mouth and throat as well. He does seem to be progressing and not regressing. I question if he will ever grow out of this. He seems to have had this since infancy. I have not heard of another case like ours. His diagnosis remains unclear for his gross motor and speech predominant developmental delay. It has been difficult not knowing what our child has.

Do you have a doctor or hospital you would like to recommend?

We currently see Dr. Shailesh M. Asaikar, M.D.