Paroxsymal Tonic Upgaze- Our Story

 

 

 Milla 7 months

 

This was the start, this was before we knew, yet still I knew something was not quite right

She was not yet crawling, (totally normal developmentally) she was holding her head up and pushing up on her arms and moving around on her belly... and then there were times it was like her head was glued to the ground, she couldn't get up!

I'd try coax her and just as I would start to get worried she snap out of it and start moving around like nothing had happened.

 

Milla is my first child and at the time I already felt like every health professional I'd seen in the past thought I was an over anxious first time Mother, like many of us do.
So I told myself I was only being overly anxious and not too worry, she's just a baby,
she's just resting.

 

As a newborn Milla knew how to scream!

I still remember and it still makes my blood boil, one thoughtless midwife telling me days after giving birth to her, my first precious baby
"I'm glad I'm not taking this one home!"

At the time I just burst into tears but since then I've given that midwife what for in my head!

 

Milla would cry for hours and hours at times no matter what I did. I had no idea what to do. I'd been told she had reflux and colic. I tried numerous colic remedies, dairy free diets, taking her to a chiropractor and massage.

She was difficult to settle, but once settled she would sleep for long periods of time.

As a newborn she always seemed tense with her toes curled and fists clenched.

Right from the start we knew she had sensitivity to light as she'd sneeze as soon as she went into a brighter area- she still does this!

She would overtire and get overstimulated very easily.
In a way it was a blessing that she was my first, ignorance can be bliss, and I survived by believing, this is what all babies are like and of course they all can be at times.

Milla was also very alert and a very fast learner. Right from the start it was like she was really listening to everything and taking it all in, and she was! She said 'mum' first then 'dad' and it wasn't long till she had many, many words in her vocabulary. She was and still is very affectionate, she loved to be with me at all times, loved cuddles and rocking and I loved them equally also. She was so entertaining, fun, beautiful and joyful.
She was the most precious baby girl x

 

 

 

 

Then one day, just after she turned 8months she was sat in her high chair having lunch and her eyes went funny, they rolled up. It lasted only momentarily. I thought ...        "she's just rolled her eyes at me!" I even put it as my facebook status at the time lol!

But it kept happening, only lasting a few seconds at a time but over and over again. I got really worried and rang my GP. I could only get her in for the next day.

 

She went down for a nap, when she woke she seemed fine, completely healthy. Once again the 'over anxious mother' 'I'm just being an over anxious mother' 'see, she is fine now' thoughts were going through my mind.

 

As the day went on and she grew tired I saw the strange eye movements again- her eyes would go up, her head would drop down. Then she'd be fine again.

 

At dinner time things went pear shaped. Her eyes went up and her head dropped down. It was very abnormal. (We now know that oral stimulation such as eating and brushing teeth were a trigger for her upgaze) We took her straight to the after hours clinic at the local hospital. Here we were told that it appeared to be 'seizure' activity and we were referred to Neurology at Princess Margaret Children's Hospital (PMH), but we were sent home.

 

The next day things weren't improving, her upgaze was happening a lot of the time. I'd been told that PMH would contact us in regards to her referral and when they could see her. They hadn't called in the morning so I kept the GP appointment I'd made the following day. The GP took one look at her and said take her the Emergency Department at PMH. By this stage she was really unsettled.

 

Upon arrival at ED PMH we were quickly escorted through and seen to by doctors. Things happened quickly and it's a bit of a blur, as you can imagine it was very emotional and confusing.

Milla had a temperature due to a common childhood virus.

The onset of PTU often coincides with a virus - not caused by or due to a virus.

 

To this day I can predict when she is about to get sick simply by the increase in her upgaze episodes, which tend to start happening a couple days before the illness appears!

 

She was admitted.

We were in shock and beyond worried.

 

 

During her stay she endured many tests, was poked and prodded and she was

extremely brave!

She had to have a couple of EEG's to monitor her brainwaves during sleep and awake times.

These results were all clear - important when making a diagnosis of PTU

 

After 4 days and nights, with all clear results and her episodes decreasing we were allowed home as an outpatient. We were told all her results suggest that this was not seizure activity and epilepsy was unlikely, but at this stage her episodes were 'unexplained'!

 

In the next month we had to go back for another EEG and follow up appointments. Apart from the daily occurance of upgaze (usually only brief) she was developing and growing beautifully! She was a clever little monkey and oh so cute!

This certainly put our minds at ease.

During this time we didn't know what to think. I trawled the Internet trying to find the answers, any answers, something. I remember coming across some information on PTU and immediately thinking - this is my child! Yet when I viewed the only video I could find on you tube at the time, I thought, this is different, my child's eyes are not in upgaze for hours or days at a time like this child. Milla's upgaze are only brief lasting just seconds but often occur in clusters -alot of them at a time. Mostly they were completely unnoticed by friends and family, but occasionally someone would catch her doing it. PTU is so rare and not much is known about it by many medical professionals.

There is little knowledge about it and why it occurs.

To be honest I dismissed PTU

 

We also noticed there were definite triggers for her 'episodes'/upgaze, those being

• tiredness
• illness
• oral stimulation (eating, tooth brushing)
• going underwater / swimming lessons
• swinging on the swing
• over stimulating environments such as noise and bright lights
• stress

 

 

At 13 months we were back to PMH for more tests. This time an MRI and Lumbar Puncture was done as well as a lot of blood taken under a general anaesthetic.

It was the single most heart wrenching day of my life, however Milla handled it so well. She is so brave and such a tough cookie this one!

 

As you can see by her walking she was hitting her milestones right on target!

 

All results were clear!

Big sigh of relief! It was actually bitter sweet, don't get me wrong it was the most wonderful news to hit my ears. There is nothing wrong with her brain or spine. She has no infections in her spine and all her bloods were good!

 

Yet no one could tell us what was happening with our daughter!

We were told it was likely a benign (not harmful) unexplained movement.

Which was fabulous!

 

The best news was we knew her 'episodes' weren't harming her and they weren't affecting her development so we could relax and just enjoy our daughter! And we did as always!

 

We continued to notice an increase in episodes when she was tired, unwell or in overstimulating environments such as those with bright light or loud noises.

Swimming lessons were really difficult as I was continually forced to submerge her under the water which would upset her greatly, trigger upgaze and she'd lay her head on my shoulder unable to lift it up. I know now that this was because she was feeling dizzy and unbalanced. A scary sensation when you are in water. We gave up swimming lessons!

I'd also noticed an increase in episodes while she was on the swing.

They tended to decrease in occurance during meal times but would still happen at tooth brushing times!

 

 

We'd have the odd bad days!

 

 

 Were she would have quite a few episodes.

 

But the vast majority were good!

 

Over time we rarely paid any attention to them and just forgot they were there. They were just a normal part of who she was. We forgot about it and put it out of our minds.

 

Very quickly she turned 2 and was signed off as an outpatient at PMH! Her little brother Harrison was born. Suddenly she was so grown up! She had been healthy and well for months and we had not seen an episode that was concerning in a long time!

 

Then my husband and I started noticing odd things again. It was so noticeable I think, because she was now older, I had a new baby and she was expected to walk more often. Also she had gone long periods of being hardly affected by upgaze, that when she came down with an illness or was over tired it was very evident that she was indeed still having 'episodes'.

 

She loves dancing so when during one lesson she refused to stand up I knew something was up! Then she started asking to go home. I noticed she was having lots of odd eye movements. She wanted to lay on me. I said we could go home but she refused to walk. I had to carry her- head on my sholder and push Harrison in his capsule to the car. She quickly fell asleep in the car and slept for 4hrs once I transferred her to her bed.

The next day she woke up with a cold/ virus, nothing serious, no high temps, but she spent much of the next few days laying on the floor or sleeping.

 

There were other instances. Like, when we took her to scitech and she quickly went down hill, refused to walk, asked to go home and was having quite a lot of trouble with her eyes rolling. When we got home she projectile vomitted the biggest amount of vomit. She  then fell asleep for 4hrs and woke up completly fine.

 

I kept a record of these times and decided that I'd let her Paediatrician know what had been going on when we next saw her.

 

Then I recieved a letter in the mail, from the Neurology department at PMH. They were signing her back in as an outpatient and wanted us to complete a large questionnaire on her development- across all areas/domains.

I was already sure that developmentally she was doing really well and the questionnaire clarified that!

 

I thought that this new referral was odd, but was not unhappy about it, I certainly wanted to run a few of the latest episodes by them. Although I was not concerned that her episodes were causing her any harm nor were they affecting her development I had some concerns. For example, we already couldn't do swimming lessons. She had never been put into any type of daycare but next year she'd be starting 3yrold pre-kindy and although she may very well never have any 'noticable' upgaze, however, if she did it would affect her participation in the class. It would certainly affect her concentration and if she was overstimulated, which classrooms often are, she may need to lay down. Although it was a long time off I was concerned about things like would she be able to drive a car when she was older?

 

As her appointment approached I wondered what they were going to say.

I was aware that there had been a recent case of PTU diagnosed in Perth and that the Neuro's were now more familiar with the condition.

Were we going to get an answer???

I actually seriously doubted it!

 

 

About 3 sentences into the appointment and we had an answer... PTU

We were also told it sounded like she had a bit of Benign Paroxsymal Vertigo BPV, which is a common childhood migraine variant.

 

After 2yrs we finally had an explanation, an answer!

 

We now know PTU episodes can last from a few seconds to hours and days at a time. Thankfully, Milla's are on the milder side, only lasting for brief amounts of time. The amount of time in upgaze has not affected her development and she has had no negative side affects from it.

 

Resolution or the disappearance of PTU can happen anywhere from a couple days after onset to seven years, however, for the vast majority episodes stop between 3-5yrs of age.

 

At this stage, Milla (just turned 3) still occasionally has episodes mainly only when tired or unwell but they are hardly noticeable. We are certain they will stop altogether in the next couple of years. We do not know if she'll have any residual affects as she gets older although I'd say at this stage there very likely won't be any.

 

To everyone else she is absolutely your average 3 year old!

 

To us, she's a Princess of course!

 

 

We wanted to share our story in case it may help out another family with questions and no answers just like us.

 

As it is so rare, there is still so much not understood about the condition,

 such as exactly what causes it.

The tests completed to get to a diagnosis are not pleasant but necessary in ruling out everything else.

Treatment theories are still that, theories. Although, there are various things that you can try to reduce the occurance of upgaze,

for us the best course was to avoid her triggers.

In Milla's case no treatment was necessary.

 

 

Paroxsymal Tonic Upgaze (PTU) is a benign syndrome of childhood, first reported by Ouvrier and Bilson in 1988.

Read more about PTU here.

If you'd like further support or have any questions for PTU families you can join
 the PTU Village on facebook.

 

 

Katey and Family

xx