Dystonia

Christian was diagnozed with Dystonia whe we was 5.5 years old, after years of specialists, neurologists, physiologists, paediatricians etc.  The type of Dystonia he was diagnosed with is Early Onset Generalised Dystonia, which means he’s had it since birth and it is not a secondary condition from another disorder.

Questions & Answers

What is Dystonia?

Early-onset generalised Dystonia is the most common hereditary Dystonia.  It is characterised by twisting of the limbs, specifically the foot/leg or hand/arm.  The spasms may spread to involve twisting contractions of other parts of the body.  Christian does not fall within the discription and this is why we are not 100% convinced about the dianosis.

What is the prognosis?

Dystonia is a progressive condition where symptions usually get worse over time.

How does it effect Christian?

Christian does not have any spasms at all.  He is just unsteady on his feet (wobbly), can not sit or stand straight up and does not complete saliva control, although swallowing is not a problem.

What are we doing about it?

He has had an operation to help with the drooling. So far this had made a huge improvement (2010).  We keep him as active as any normal child his age.

Is there a cure?

If he had dopa-responsive dystonia, the dopamine could have helped, but it is not a a cure and it did not have any effect.  There is no known cure.

Christian’s History

Pregnancy

 We fell pregnant with Christian naturally and I experienced a normal pregnancy with no complications.  I gave natural vaginal birth 4 weeks early at 35 +5 weeks.  The birth was uncomplicated. 

 Development

Christian was jaundice at birth and at 10 days received light therapy over night.  I was feeding every two hours and the jaundice eventually went away.

I started him on solids at 4 months, as recommended at the time, and continued to breast feed until 6 months.  He went to all his developmental checks and was on track in every area including:  rolling over, sitting, crawling, following with his eyes, grip, hearing, standing and walking.   We walked well at a year and started speaking. 

He was off nappies by the time he started playschool at 2.5 (day and night).

Christian had very good muscle tone at birth and was never a floppy baby.

When he was about 2 or 3 months old he seemed to have ‘seizures’ – They would last a couple of seconds and then pass. He probably had about 5-10 of these. I tried to explain them to the doctor at his development test, but she was very unconcerned and they were very difficult to describe. He has never has seizures since and I still don’t know if they were actual seizures.

As a baby Christian often lay in a car chair rather than flat on his back – could this have contributed to lack of spinal core stability?

Christian has had all his immunisations including MMR.

Sweating while sleeping

During afternoon sleeps Christian would sweat more than normal.  This has subsided a bit.

Waking up & Night terrors

Waking up, especially after an afternoon sleep was bad.  It would normally take about 30 minutes to calm him down.  This has subsided, but he still very troubled and clingy after waking up on afternoon naps.  2010 – no longer naps, sleeps very well and has no problem waking.

In his first 2 years, Christian had night terrors and we would struggle to wake him up at times.  He would carry on screaming with lifeless eyes for up to 5 minutes before we can get him out of it.

Excessive Drinking

 In his first 2 years, Christian drank a lot of fluids.  We would give him concentrated cold drink mixed with water but in a very weak mix.  We have now taken him totally off any juices unless 100% natural.  2010 – he drinks all normal drinks, including concentrates.

 Drooling

Christian always drooled, basically from birth.  As a baby it was not strange for us because all babies seemed to drool.  During his teething age it was so not terribly noticeable because other kids were also drooling, although he did seem to drool more than his peers.  It was at about 2 – 2.5 when we really started noticing that he was still drooling although most of his peers had stopped.  Drooling gets worse when Christian has to concentrate on a fine motor task or when he is enjoying playing with other kids. 

It seems that as soon as he concentrates he forgets to swallow saliva.  Although we have tried to teach him to form a habit of swallowing, he has not taken to any habit of swallowing more.  2010 – After is Saliva Duct Translocation operation, there is a huge improvement with drooling.  His chin and clothes no longer get wet.  He is able to control what drool might slip past his lips.

Wobbling

 Up until about 2-2.5 we always thought that Christian just had a ‘cool’ gait, he had a kind of ‘swagger’.  He was about to start at a playschool when my sister, who works with children, pointed it out to us that the teachers might notice that he was different.  It was at this point that we started taking more notice of these habits and become concerned.  I took him to our GP who didn’t show much concern, but referred us to a colleague.  This Doctor referred us to an Orthopaedic surgeon who found nothing wrong.

 Tiredness

 Before the age of 3.5 Christian complained frequently of being tired, especially after walking.  He would also complain that his legs are sore when walking more than 100m.  This tiredness seems to have faded as he does not complain of this anymore.  However, we seldom walk longer distances with him these days.  He does not show sign of the same tiredness when playing with other kids.

 Heartbeat

 Christians Granny has mentioned that he has a faster than normal heartbeat.  We have not measured his heartbeat to date and do not know what rate is normal for a kid his age.

 In London we:

 Visited GP – did not show concern

Second visit to GP – did not really see the problem, but referred to orthopaedic surgeon

Appointment with Orthopaedic surgeon – X-ray on legs – did not see any problems.

At 2.5 Christian began going to a playschool 3 mornings a week in London.  They immediately noticed the problem and a health visitor was asked to evaluate him.  It was really at this point that I began being concerned that it was a neurological problem.

We visited South Africa and decided begin looking for answers:

Occupational Therapist – South Africa – saw the problem, but could not diagnose

Paediatrician – Dr Beukes – South Africa – saw the problem, but could not diagnose

MRI – came back showing nothing abnormal

Audiologist in South Africa – no problems

Neurological Physiotherapist – she diagnosed ‘low muscle tone’

Paediatrician – London – saw the problem and referred for blood tests

Blood Tests – all came back clear

Referred by Dr Beukes to Red Cross

2007 – Saw Dr Ndondo at Red Cross – suspected Dystonia  – trail Levadopa (did not finish the course, but did not see any results).  Did more blood test.

2008 – Saw Dr van Toorn at Tygerberg Hospital.  Gave diagnosis of Dystonia.

Also saw Prof Schoeman at the same time.  Gave diagnosis of Dystonia.

April 08 – Decided to do another Dopa trial.

At 2.5 Christian began going to a playschool 3 mornings a week in London.  They immediately noticed the problem and a health visitor was asked to evaluate him.  It was really at this point that I began being concerned that it was a neurological problem.

In 2007 Christian went to a playschool one morning a week and attended Playball for half an hour a week.

 In 2008 he began Grade R.  He was there for 3 months and I took him out to homeschool.  He was not keeping up physically.  He would get tired and not complete tasks.

 We have recently taken him to an Educational Psychologist and she is very much in support of us home schooling.  He tested very nicely in all areas of his intelligence (emotional and academic).

Christians’ Symptoms

Drooling – Christian drools constantly and more so if he is concentrating.

Stability – Christian is unstable when standing, walking and sitting.

Standing – Christian struggles to stand still.  He cannot stand still in one place.

Walking – Christian drags his feet when he walks.

Running – Christian can run fast and straight, but does drag his feet unless told to run ‘heal-toe’.

Sitting – Christian struggles to sit up straight on the floor.  He will constantly fall over backwards.

Christian will complain of a sore neck when sitting to draw or do a puzzle for an extended period of time.

Christian will complain of his legs getting sore if he was to walk very far, especially if he is tired.

Christians’ Personality

Christian is a very sensitive, gentle and loving child.  He has never been an aggressive to other children, although has healthy fights with his younger brother.  Christian is a bright child both emotionally and intelligently.  He is very aware of his own feelings as well as the feelings of others.  He is eager to learn new things and enjoys learning new things including – counting, alphabet, stories, telling his own stories and making up new songs, painting etc.

Possible related family medical history

Mother – Tendonitis (walked on toes as a child)

Mothers’ aunt on mothers side – Disabled with possible Limb Girdle

Mothers’ cousins’ son was thought to have a problem with core stability and visited an OT.  No official diagnosis was made.

Restless Leg Syndrome in Niki and Barbara

Mothers’ mothers’ cousins, child – Diagnosed with low muscle tone and treated at Red Cross.  Also had operation on one tendon, which improved stability. (Cara Louise Hindes 79082889 79082 889) Born 5 weeks early at 1/6kgs.  Had slurred speech.

Parents’ thoughts on Low Muscle Tone

Low muscle tone usually presents itself with a floppy baby.  Christian was never a floppy baby.  Christian does not have a muscle strength problem and can run, jump, climb and hang just like any normal child.  Christian does not have any final motor skill problems and can draw within the lines, build Lego, cut with scissors and do puzzles with out a problem.

Low muscle children don’t often drool and his drooling is not caused by not being able to swallow or by drooping facial muscles. 

Parents’ thoughts on Dystonia

Although Dystonia might answer more questions than Low Muscle Tone with regards to the drooling it fits in with our original feelings and concerns that it could be a neurological problem (supposedly ruled out my the MRI). 

Our concern with this diagnosis is that Christian never has spasms or contacts his muscles in awkward positions.  If he is falling over he will tense his muscles to prevent him falling, but this is the same as how we do when we are unbalanced e.g. clenching his hand or holding his arms out.  He can readily relax these muscles.

2007

This year Chris attended a nursery 3 days a week.  It was an Afrikaans school and I saw it more of a playgroup.  He liked it, but was not always happy to go.  During this year he went to Kinder Kinetics with Petro.  It seemed good, but I don’t think it did any good.  She did give us a nice report though from her point of view.  We also visited a Speech Therapist who gave us mouth exercises.  We have not been very good at doing these.  We started with Physiotherapy, but again I did not see that this was going to be very beneficial.  Instead he did swimming.

We saw Dr Ndondo at the Red Cross hospital.  I am waiting for his full report, but he gave the first diagnosis of Dystonia.  We filmed Chris and he took this tape to a conference and his peers supported his diagnosis.  He started on a course of Levadopa.  We did not complete this course because I was not confident in the diagnosis and wanted to wait for the blood test results.  I also saw no improvement.

2008

We started this year with Christian going off to Eversdal Pre-Primary.  He absolutely loved it.  He loved his teacher and his friends.  Then in February I took him to an ENT doctor and he said that Chris could benefit from having his tonsils and adenoids out.  We booked him in for the next week.  It was quiet shock to see how painful the recovery was.  Chris was in a lot of pain and was off school for 10 days.  From the day he went back everything changed.  He hated it.  Complained of getting tired and would cry every time I left.  It was heartbreaking.  So after a couple of weeks Stefan and I decided to turn to home schooling.  The decision literally happened over breakfast one morning while getting ready for school and that was it.  So far it’s been brilliant and Chris is very happy.

From the beginning the teachers’ feedback was that he was not keeping up with the tasks.  He was falling behind because there was a certain amount of work that needed to be completed in a day and he was not getting to everything.  She said that it was very noticeable that he would get physically tired.

In March we took him to an Educational Psychologist (Sanet Vester) and she is very pro us home schooling and agrees that he is not ready for a school environment.  Her feedback was that he is a very bright kid and she sees him in medicine, law or psychology as a career.  We are waiting for the full report.

I also took him to see Dr van Toorn and Prof Schoeman at Tygerberg Hospital.  They both diagnosed him with Dystonia in support of Dr Ndondo’s diagnosis. 

At the beginning of April we started him on a Gluten free diet.  This is after I read about it on the Internet.  I will keep a diary of this.  Just before this we removed Oros and Nesquick and white sugar from all the kids diets.

It’s now May and we have left the Gluten free diet on recommendation from a Nutritionist.  Instead we are trying to exclude diary and wheat from all of our diets.  It’s not so easy, but we are definitely eating healthier!  My new bread machine is great!

2010

It’s so intestesting to read back over the last few years. This year we have been homeschooling for almost 2 years and I am now homeschooling both Chris and Aaron, with Zara tagging along.  Christian had a saliva duct operation and it has made a huge improvement with the drooling.  His clothes and chin are never wet anymore.  Physically he still has the same symptoms, this has not gotten any worse or better.  His learning environment helps him with the challenges he has in sitting up straight.  We use Sit Right chairs, or move to the bed or sofa when he gets tired.  We have not been doing any form of physio or speach therapy, but Chris now goes to a tutor once a week for bit of a change of environment.  He loves it.