Undiagnosed

I have a 7 year old daughter who is suffering from ptosis and ataxia. Her problem first began at 15 months of age, with short intervals of head tilting upon concentrating or playing with something. If she lay down for a minute or so the head tilting would disappear. These head tiling sessions went on and off for thee years.

At age 4, upon catching a cold we realised she completely lost her strength and ability to walk, she began to  depend on holding on to walls to support herself. After this complete deterioration in her health she slowly and gradually began to regain some strength again. With the help of her physiotherapist she grew stronger in all her body muscles but the prolem was obviously not muscles. Her walk remained wide based and she very easily looses her balance and falls.    

She is now almost 7 years old, she has difficulty getting around on her own, she has mild ptosis in both her eyes. Becomes worse if shes ill, has slight weakness in her right hand and leg.  

Over the past year she has done blood tests, Brain MRI, Lumber Puncture, Muscle Biopsy, EMG. All her test results have come back normal, the doctors at GOSH decided that they are unable to find a diagnosis. We know it is no ones fault but both her father any myself are both so upset. She is our first and only child and so we dont even know if we can have more children, ever. Can anyone help?


This discussion is related to recurring acquired head tilt to right & left ptosis .

[Xmas09]

Your daughter has some similarities to our daughter. Our daughter is now 18 months. When she was 6 months old she got a virus (we think, but never isolated), which either infected her brain or most likely caused an immune response in her brain which caused some swelling and damage to the cerebellum. This was picked up in an initial MRI. Later MRIs these areas of 'activity' had decreased in their severity. I would assume subsequent MRIs would show less and less anomaly over time.

Post infection she developed ptosis, episodes of head tilt, irritation, lack of balance and changes to sleep. These symptoms became worse when she got a virus/cold. We started her on periactin (anti-migraine drug) 10 months ago to allevate the symptoms of the 'benign paraoxysmal torticollis' which is what the post infection symptoms were diagnosed as. The periactin has helped. We are currently in the process of reducing her dosage so with in a week or so she will be drug free.

The point is though, when she gets sick her head tilt comes back more noticeable and so does the ptosis. She gets the wobbles up and is more unsteady. She can fall on her head from a standing position... And if you tested my child now, i doubt the MRI would show much, blood work would show nothing etc. And the only reason we new that something DID happen to her brain because when she first got sick we were luckly enough to have had the MRI done with in the first week.

I hope this provides some comfort to you and your husband. Your post concerns me that if it is similar to what my child has, then she may not just grow out of it as i had thought.      

[nknmw]

Thank you for getting back to me. I'm sorry the information I provided may be upsetting to you. Lets hope both our children grow out of it. What you are saying is very similar to my daughter's problem. She also becomes worse when she has a cold. She easily falls from standing posisiton etc.

In my daughter's case as she grew her head tilting has become less and rarely appears, except when shes really unwell and it comes for short periods only. The main symptoms we have is the poor balance and wide base. Also she tires easily and her legs become wobbly.

Can I ask where you are regarding a diagnosis? Have doctors been able to identify anything? Have they said it could be from the virus you mentioned? Or could it be genetic?

  

[Xmas09]

As far a a diagnosis, we've got all we are going to get, I would predict. The doctors were never able to identify anything except anomalies on her brain MRI which were taken at 1 week, 1 month & approx 4 months from initial onset of sickness.
The sickness started with a 'seizure' and elevated temperature. 'They thought the initial sickness may have been caused by a virus due to the fact she had 3 days of very high fever. We took antibiotics at this stage but they didn't seem to do anything. I noticed neurological changes within 12 hrs of the seizure. I took her to another hospital who administered antivirals & antibiotics intravenously whilst they awaited results from the lumbar pucture. I noticed she began to improve at this stage. I put it down to the antivirals and/or time, but when nothing major came back in the results the took her off the antivirals/biotics and did the first MRI. They did more extensive blood testing at 2nd MRI looking for more unusual things and still nothing showed up.
The only other thing that concerned me is that she had had her 6 months vaccination 1 week prior to this begining. But they assured me that this had nothing to do with her getting sick. I thought that she could have had an immune response to the vaccination. We have continued to vaccinate with no problems.
My gut feeling is that she is  'genetically' predisposed to this sort of thing. The right circumstance came along (i.e. virus, vaccination etc) which initiated this response and maybe turned this 'switch on'. The way you described your daughter's symptoms in your last message to me sounds exactly how my daughter is.        

[nknmw]

The thing that worries me is that my husband and I are first cousins, we don't have any genetic problems in the family and have never seen or heard anything similar to this in the family and thats why its so confusing and worrying. My daughter is our first and only child. We would love to have more kids but we are too  scared that her siblings may turn out with the same problems. I feel I am wasting time by waiting and that I should take the risk but at the same time im scared. Can you advise?

[Xmas09]

My husband and are not related in any way. We have had three children and the 4th arrives soon. The other children seem fine.
The only reason I thought there may be a genetic component to this illness is because our nephew had benign paroxysmal vertigo as a young child which has some relationship to benign paroxysomal torticollis. These two conditions i would think are fairly rare and the fact that two cousins in a family have had them suggests to me a genetic link.
I do not know if your childs problem has to do with you being first cousins. But many related people have had very healthy children; and unrelated people have had sick children.    

[squirtatious]

Have either of u thought about seeking alternative health care for ur children through a licensed foot zoner or iridologist?  I take my children to our family foot zoner who has amazed me at her ability to find out what's wrong or going on within my children's bodies that a western dr was unable to find. I wish both ur children the best!!

[nknmw]

I need advise please. My daughter's heart stopped on the 24th of January 2011. No clear reason. She seems to be in a semi coma now. She is also unable to breath on her own and she is on a mechanical ventilator. The Doctor's have tried to wean her from the ventilator three times but her lungs are not strong enough to support her. I really need to ask someone for advise and don't know who to direct this information to on the forum, can you advise me. I really need help.
Please tell me who to write to.

[Xmas09]

Try writing a post to one of the experts. They will respond. But it would be best to concentrate on doctors and specialists at the hospital where she is. They are the ones in direct care of her. I am very sorry to hear that your daughter is so unwell. As I am just a mum, all I can say is keep going, dont give up to you have answers or she is better. The squeaky wheel gets the oil. Something has caused this, and it may be able to be reversed with time and/or treatment, if you can find out what it is. And do your own research too.

[Xmas09]

How is your daughter?

[nknmw]

Thanks for asking.

She is still in a coma. She is not breathing on her own. Some days we feel are better than others. Yesterday she responded to simple orders like "open your mouth if you hear me" and "try move your fingers". Today shes is unable to make any moves.

Doctors here were optimisitc she would improve after we did the tracheostomy, now they are saying there is no real progress. I don't know how she can be in a coma and respond to "simple" orders. Unfortunately, I am in a country where I am unable to completely trust the medical services offered and I am unable to transfer her to another country for better medical assistance.  

No diagnosis has been made, just some assumptions.

[Xmas09]

If the doctors told me my daughter was in a coma but on occasions she could follow simple orders, i would not be believe them. Coma to me means no response. She maybe unable to respond all the time because she is so overcome with her illness...but i'm not medical. It is a really good thing she responds. To me it means that sometimes she can hear you. Dont give up. We are thinking of you.  

[nknmw]

You are very kind, thank you for your support. I will hopefully have better news soon. We continue to pray for her well being.