Katie’s Lissencephaly Page
This is the story of Katie. Katie was born with a condition known as Lissencephaly. This condition leaves Katie severely mentally and physically disabled.
This is her story………………
On the day she was born (27 August 1997) Katie spent a very quiet time inside her mum. Mum had been shopping and had noticed that her baby was unusually still. Normally baby would be kicking and moving within her, but today things were definitely different. After a few hours of this the baby moved again, mum relaxed and dropped back into her routine. A few hours went by and again the baby became still. Dad returned from work and mum mentioned the babies’ stillness. With a stethoscope, dad checked the babies’ heartbeat. – 140 beats per minute – “Sounds OK to me”
A phone call to the Hospital and they confirmed that we should come in for a check. 25 minutes later we were admitted and mum was attached to a Foetal Heart Monitor – and we heard the babies hearty beating away at a steady rate. After a few minutes the heart rate started to drop. With much jiggling of the doppler sensor the heart beat recovered and the doctor suggested that the heart beat be monitored a little longer to see if this was a real deceleration. Over the next 40 minutes the heart rate dropped three more times. The doctor made the decision to operate – and within 30 minutes mum was given a spinal and Katie was born.
Its a girl!
There followed a period of about a minute whilst the baby was given a short whiff of oxygen and then we heard her first cry. She was alive. Katie weighed 5 pounds 9 ounces.
On holding Katie for the first time dad noticed she had a minor squint – nothing to worry about – babies quite often have eye co-ordination problems. Within the hour Katie was tried on the breast. She wasn’t interested. She was left a while and tried again. Still not interested. Her temperature was checked. She was cool. About 1.5 degrees Celcius low. She was immediately moved to an incubator and a Naso-gastric tube inserted and she was given a few cc of formula milk.
Slowly, and with feeds every two hours, her body temperature recovered and she was given back to mum.
Over the next few days, whilst Katie remained in hospital she was tube fed and slowly she took to the breast and learnt to suck. We both watched her and she seemed fine. We noticed a few times she would shake when falling of to sleep, just like a shiver if you were cold. The doctor thought nothing of it. The paediatrician did the usual superficial checks and pronounced “Your baby is fine”. She could never have been further from the truth. We had no idea what was to come.
Ten days after she was born and her weight had slowly increased, we were released from the hospital.
The next few months were agony and ecstasy. Katie had good days and bad days. Sometimes she was just not interested in feeding – it was a real struggle to get her to suck. Other days she was fine and couldn’t get enough and then she was a really noisy feeder – so much sucking – nobody had ever heard such a loud and apparently enthusiastic baby. The funny thing was that she hardly ever cried. She would quite happily sleep through the night with no trouble at all. What a godsend. All the stories we had heard about sleepless nights were just not true! Katie was just a very good, well behaved baby. Fantastic.
The health visitor came to check Katie out from time to time. She had her weight length and head circumference measured. All this was plotted on a nice set of graphs provided by the NHS. Her weight was on the low side of average but well within the bounds of ‘normal’. Her head circumference was right on the bottom limit (0.4 centile). We thought nothing of it
At 28 days old Katie smiled for the first time. The most marvellous feeling. She had responded to a smile by returning one.
More regular check-ups showed that Katie’s weight was increasing and she was catching up on the graph. Her head size was still on the lower bound. Examining the graph and the measured figures in greater detail suddenly gave us a great shock. The figures had not been plotted correctly, and when corrected almost all the head measurements had been BELOW the minimum line. The health visitor was informed and she turned up with a larger graph and re-plotted the figures. Katie’s head was well below the minimum. A doctors appointment was made and he examined Katie and said she was fine, but just in case Katie was referred to the Child Development Clinic for further tests. By this time Katie was almost 4 months old.
A few weeks later, at the clinic, Katie was seen by a specialist. The conclusions were unclear. All we could be told was that Katie was suffering from developmental delay. The indications at this point were:
- She was unable to bring her hands to the midline. She never used her hands at all. She didn’t like things being placed in her palms. She would just pull away.
- Her quiet manner – she always slept through the night
- Her poor head control – she couldn’t hold her head up very well.
- Her poor visual tracking – she couldn’t follow moving objects very well.
- Her head position – she had a strong preference to keep her head pointing to the right.
- Her squint in her right eye -seemed to come and go.
- She would poke her tongue in and out for long periods of time.
- Her body would contort – she would sometimes arch her head, neck and back when she appeared to be unhappy.
The specialist suggested that Katie should have a Ultrasound scan. The following week a scan revealed nothing concerning – but it was explained that an Ultrasound scan is very poor at picking out any detail through the fontanel. We were asked to come back for a MRI scan.
After a wait of over two months Katie finally had a MRI scan and we then had to wait for another 3 weeks before we had the results. In the mean time Katie had her eyes checked and the squint confirmed as being a divergent strabismus. Her hearing was also checked – but we knew that this was basically OK as she would react to sounds.
On the day of the diagnosis we were prepared for bad news. In the months since her original examination we had been watching her for signs of development – there had been some. She had improved her head control a little and was able to roll over if she was placed on her front on the floor. However, this was still behind our expectations. We had both looked around the Internet, looking specifically at Cerebral Palsy. We had convinced ourselves that she had been affected on that last day in the womb before she was born and that she may have a condition that was well known and perhaps someway recoverable with the correct stimulation and therapy.
We were not prepared for Lissencephaly. We were stunned. Neither of us had ever heard of it. The MRI scans were quite clear, her brain was smooth – there were hardly any convolutions or gyri – it had failed to develop and she was going to be affected in a fundamental and extreme way.
All the observations we had made since she was born all came together at once. Each one was probably, in isolation, a trivial thing, which would go un-noticed by a parent. Altogether, however, they were a deadly indication that Katie not a normal child by any sense of the word.
The next step was to get a more detailed analysis. There are many varieties of Lissencephaly (click here for types) and soon after the original diagnosis Katie had X-Rays (looking for specific problems with her knee joints) and blood taken for the FISH test to be carried out.
The results of the FISH test showed that Katie does not have a deletion of the LIS1 gene. The most likely diagnosis is that Katie has ILS and not MDS (given her symptoms). However, further testing is now available which examines the details of the LIS1 gene looking for smaller abnormalities. Katie’s blood samples and slides are being sent to the States for this further testing. The results of these tests will be to give us a better idea as to the type of Lissencephaly, the risk of reoccurrence and the chance for the Worlds experts to be involved in her case. It took almost a year to get the results of the gene sequencing for the LIS1 gene. They were negative. This means that we still don’t know the root cause of Katie’s condition and we have been given a 5% chance of recurrence.
Katie is also having some physiotherapy, to help with her head position and arm /hand movements
Since diagnosis she has shown some minor development improvements. She now hold her legs out straight when held on the floor and she will take her weight for a few seconds. Her head control is better and she spends less time looking to her right.
Katie’s feeding is also not too bad. She is currently spoon-fed with the usual mushy baby ‘gruel’ that they seem to like. After the first mouthful (which she usually grimaces at) she swallows the mush down with little problem.
At 10 months she realised that being tickled under the chin was a nice sensation! Soon after, rolling from her front to her back became possible – the physiotherapy was beginning to show a significant improvement.
At 11 months she could support her weight on her legs for short periods (usually by propping her up against the back of the sofa) and with the help of some special shoes her feet can be made to sit flat rather than twisting over to their sides. She then discovered hand chewing (we guess, as she was teething), and with this she could keep a crust of bread in her hand and chew on it. Placing her hands around her drinking cup handles allowed her to hold something functional for the first time. She can now bring the cup to her lips and drink – but if she moves her hands away she almost always lets go of it.
At 15 months she could sit unaided for minutes at a time although she needed something to catch her attention otherwise she would soon fall backwards. She could also grasp an object for a short period if her hand was brought towards it
By 24 months her sitting was very good, if she fell over it was because she had had enough rather than due to poor balance. She was also beginning to pull herself up from a lying position. Her weight bearing hasn’t really improved although sometimes she has held her weight and lifted her feet and moved them forward when practising ‘walking’. Socially she is excellent…… smiles, smiles and more smiles.
By 31 months she had mastered drinking with her trainer cup. In fact she loved doing this so much she wouldn’t let go when she had finished! Her hand control is still very poor (fine motor) but she now ‘accidentally’ grasps things and holds on. Her favourite is holding on to a light wand and watching it whilst she moves it around.
By 5 years old Katie continues to be a happy, quiet child. Her rate of development has slowed, but at least she isn’t loosing skills. She can still hold her cup, can still sit and weight bear. Health wise she is pretty good – no chest infections and seizures are not a real problem (usually clusters of simple partial seizures every few weeks, which we haven’t needed to medicate yet apart from PR diazepam if they go on for too long!). Katie now attends a regular nursery school 5 days a week where she has one-to-one help.
At 6 years Katie is still a happy girl. She started at a regular school (‘inclusion’) where she has been well received. Not long after she was 5 years old we decided that her seizures needed some treatment, so she started on Sodium Valproate (Epilim). This helped control the simple-partial seizures but our main concern now were atonic seizures (clusters of head drops) which continued on & off usually when she was woken up from a nap. After some expert advice we were told that these seizures were Epileptic Spasms. Katie then started a course of Vigabatrin (Sabril). We are still to see whether this helps to control the E.S. Leading up to her 6th birthday Katie slowly (over a period of about 6 months) lost the ability to hold her cup and give herself a drink. We have now resorted to spooning liquids into her (either as-is or with an added thickener). We belive that her loss of skills were due to the untreated E.S.
Katie, now 7, is still doing well. The Epileptic Spasms disappeared completely, but only after taking Vigabatrin for about 8 months. We have now stopped Vigabatrin, but she continues to take 2 x 5ml of Epilim per day. Other seizure types are now well controlled, Katie has about one per month. Her feeding is still OK, but her drinking is getting worse. She generally takes fluid first thing in the morning, but as the day progresses she really resists any drink. We now trick her by thickening her juice so much it has the consistency of wall paper paste (yuk!). We spoon this into her just like it is food. She continues 4 days a week at a regular school and 1 day at a special needs school. Katie definitely has an understanding of cause and effect. She plays computer games where nothing happens until she hits the keyboard and you can see that she realises that she has to do something before the picture and sounds start up. She also responds to ‘Katie splash’ when in the bath or swimming pool – she lifts her arm up and hits the water without any problem.
Katie, now 9, continues to be a happy and healthy child. Her seizures continue to be controlled pretty well, perhaps one or two minor spasms a week and one tonic-clonic per month. She is still just treated with Epilim. She still feeds and drink orally, but all her drinks are now thickened and has recently put on weight and has reached 45lbs. However, she has developed scoliosis (curvature of the spine) which we hope will be controlled with the use of a special spinal support jacket. She continues for four days a week in inclusion and has recently moved to a new special needs school for one day a week where she enjoys hydrotherapy and music therapy.. Every week Katie goes horse riding which encourages her with her sitting. She can also use a double switch to make simple choices.
Katie is now 13. Things are becoming more difficulty as she gets bigger. Her scoliosis has worsened and she continues to wear a support jacket during school hours. A few months ago she dislocated her hip and this remains whilst the doctors wait to see if it will relocate. Her seizures remain pretty well controlled with one day every few weeks being a day full of tonic-clonics and the rest of the time being pretty well clear of anything significant. She is now full time at a special needs school where she attends five days a week.
Click here for a short burst of Katie making a silly noise whilst being bounced on mums knee.
Visit the Lissencephaly Launch pad for Lissencephaly links.
This page last updated : 6 March 2011