Neuroacanthocytosis (NA) Community

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Blood disorder

My husband has chorea acanthocytosis. He has a blood disorder as well and has been told it is an effect of the disease - does anyone know any more about this please? Thank you

My 36 year old daughter was diagnosed with chorea acanthocytosis this past March. She was diagnosed with Thalassemia (Mediterranean blood disorder) at the age of 13. The Thalassemia masked the diagnosis of chorea acanthacytosis.

That's interesting- my husband was diagnosed with Thalassemia a few years ago as well. He goes back to see neuro mid September. He has just had a repeat EMG which has showed some deterioration.

My daughter Heidi had an EMG done about 6 mos ago at The University of Virginia Medical Center where she been seen for the last 10 years. They told us it was abnormal but couldn't tell us why. Well now we know why.

Does your daughter suffer from fatigue? My husband gets up and half an hour later is asleep in the chair, sleeps on and off through the day then is so tired he goes to bed about 6/7pm and sleeps until 8/9 am next day. Not sure if it's the condition that makes him so tired or the medication.

She doesn't get tired like that but she can't do anything except for little things. When her seizures started in her early 20's they robbed her of her memory. She hasn't been able to drive in over 8 yrs. Her seizures still continue. She has had as many as 30 a day. Last July she had one while boiling hot water and spilled it all over her. She had 3rd degree burns over 40% of her body. She had to have 3 skin grafts. She was in a burn center for 5 weeks. After she was finally allowed out of bed this is when things went downhill. She couldn't walk. Then come to find out that the trauma exacerbated the NA.

Regarding the Thalassemia does your husband get blood transfusions? Heidi has to have one every month. A low Hemoglobin will make you very tired and fatigued. Hers was 6.4 Sat before her transfusion. She gets 2 bags of red blood cells. It really helps her. I can tell when it gets close to the end of the month. She starts getting real tired and just not feeling right.

How long has your husband been suffering with this?
We were connected by Ginger Irvine that heads the support site and she connected us up with the doctor that is heading the research. Her name is Dr Ruth Walker. We took Heidi to see her this past March and she confirmed the diagnosis. She is a sweetheart. She even called me at home and also gave me her personal e-mail.

I am looking forward to keeping in touch.
My blessings to you and your husband.

My husband has never had blood transfusions for the Thalassemia, despite a count of 4 in June- result in July was back to normal levels. He was sent to a haematologist who said it was the NA, not anaemia. He has abnormal red blood cells. He has only been diagnosed with NA in the last few months but I think he had had it for longer. He hasn't had any seizures thankfully - your poor daughter sounds like she is having a tough time. I found this site by googling as there does not seem to be much info in the UK where we live. Really glad to have found others who know what NA is like- for sufferers as well as the families. Keep in touch.