A Grandparent's Reflection about Rett Syndrome

I am a retired medical pathologist and my wife is a retired general practitioner.

Evie who is 7 years old has Rett Syndrome. She is the daughter of our son Roger and his wife Helen. They live in a small village near Salisbury in England. They have one other child, a very lively three year old boy.

Roger is a psychiatrist and Helen is a trained teacher. Helen’s parents are both academics specializing in the educational needs of people with disabilities.

Evie unlike many Rett children had problems right from the start. She was delivered by caesarian section after a failed medical induction. She was a floppy baby who suckled poorly. Although she was 6 lbs at birth her subsequent weight gains were below par.

We first saw her when she was 3 months when Helen and Roger made a short visit to New Zealand. We thought she was beautiful but her muscle tone was poor and she was skinny. We shared her parents concern about her failure to thrive and wondered how to increase her intake.

The family returned to the UK. We were relieved to learn her weight gains had shown a striking improvement when she was commenced on solids. Pictures sent to us taken when she was 6 months suggested a happy alert chubby little girl.

The problem of poor muscular tone persisted and after attending a routine health clinic at 8 months she was referred to her family medical practitioner. At the clinic it was noted she was incapable of weight bearing. The doctor was perplexed and so were we. We consoled ourselves that children develop at different rates and often problems are self correcting.

I visited the family when Evie was 11 months. At this stage she could sit but not crawl. She could say quite a few words. We went on a holiday together to Madeira. The holiday wasn’t a success for the parents. Evie was irritable on the flight and remained unhappy most of the time away. She was wakeful at night and she cried a lot .It was hard going keeping her happy.

One day I took her by pushchair to a park. I recall she showed absolutely no interest in some geese close by. Helen and Roger were worried about her and were considering a range of diagnostic possibilities. I remained in a state of denial and did my best to reassure them.

After I departed Evie was seen by various medical specialists.

Pictures sent to us on her first birthday were again reassuring to us. They showed a happy Evie ripping off the wrappings of her presents.

We were not aware of what else was happening.

She started the habit of breath holding.

Helen had to stop taking her to music classes and to a play group, because Evie had developed an aversion to the company of other children.

She was referred to various specialists. Helen raised the possibility of Rett Syndrome but this suggestion was rejected by more than one consultant.

Viola and I revisited the UK when Evie was 18 months. We had then no inkling how bad the situation had become. Roger met us at the Salisbury railway station. Evie was seated in the back of the car. We greeted her enthusiastically, but she just stared vacantly into space. When we arrived at the house, Roger picked her up and gave her some vigorous ups and downs. She enjoyed this activity and laughed. Once inside she was placed into her high chair. She again lapsed into a state of apathy and ignored our gushings. In bed that night Viola expressed her anxiety by saying, “There is something seriously wrong with Evie” I felt a fraud because of the reassurances I had given to Helen and Roger and also to Viola on my return from my previous visit.

Evie had not progressed over the last seven months but had deteriorated. Her hand movements were impaired. She grimaced and particularly distressing were episodes when she clenched her teeth and threw her head back. It was possible to get her to smile but only by doing rather extravagant acts.

She had lots of noise producing toys. These occupied her for short periods. She would bang with her fists to get them playing.

She uttered fewer words than she did when she was 11 months. Her preferred amusement was staring at screen watching teletubbies.

In retrospect a diagnosis of Rett Syndrome should have been made at that stage.

However the process was drawn out for another 6 months after we had returned to New Zealand. Over this period Evie showed further deterioration. There were some very distressing occasions for Helen and Roger. Because of the distance separating us from the family we were sheltered from much that was happening. We were told that Evie had required acute hospital admission for dehydration when she was severely constipated. We heard that one clinician thought she might have muscular dystrophy. An appointment was made for her to be seen at the Hammersmith Postgraduate Teaching Hospital. This took 3 months to eventuate.

It seems surprising even at this consultation after Evie was examined, that the professor remarked in his opinion, Rett Syndrome was not high on the list as a diagnosis. None-the-less genetic studies were ordered.

On their return home from this consultation Helen and Roger reviewed the situation in the light of their reading on the subject and were convinced Evie was indeed a Rett sufferer. The genetic report came back a few weeks later. They were not surprised that it was positive for Rett Syndrome.

Though devastated by the result, Helen and Roger now knew definitely what they were up against.

They made early contact with the UK Rett Association and this proved a very positive step. Through this organization they were put in touch with other parents and have over the years attended several workshops. They experienced the comfort of knowing they were not alone. The fact Evie has Rett syndrome has resulted in friendships with people they wouldn’t have otherwise met. The Association has been extremely helpful disseminating information.

I am proud of Helen and Roger in the way they have dealt with Evie and her problems. They have worked hard helping Evie to reach her potential, limited as it may be. They are loving parents and Evie responds to their affection. Helen spends many hours a week teaching Evie. I am impressed with Helen’s patience.

Evie communicates with hand movements to indicate her responses to questions. It may be by hitting a yes-no pair of button switches or by her fist pointing out her preferences. She can comprehend many questions put to her including the recognition of simple written words, numbers, colours etc. She can indicate her wishes regarding food and drink, whether she needs the toilet and particularly what DVD she wants to watch. If you put on a DVD that is not her choice she becomes grumpy. It is a nice seeing her giggle when she watches something that gives her pleasure.

She has many medical problems including a marked scoliosis for which a brace was prescribed with instructions that this should be worn almost continuously. In practice the brace causes her discomfort and can only be tolerated for short periods. She is going to require a spinal stabilization at some stage.

I am impressed how skilled the parents are at getting her dressed, strapping her into her chair with legs correctly positioned, getting her onto the toilet, into the bath, into her pushchair and into her car seat. I marvel how Evie’s care goes on like clockwork.

At times getting adequate fluid into her was a problem due to air swallowing and reflux. This has been simplified by a gastric valve through which fluids and medication can be administered.

She is prone to complications associated with colds. She is on medication for seizures.

She can not walk but she will take steps when supported.

It is obvious her care will become even more difficult as she gets older, but again the knowledge Helen and Roger have gained from other parents will prove invaluable.

It would be interesting to compare the British health system with ours, and in particular what assistance is given to families with a Rett child.

The school that Evie attends in Salisbury is excellent. She is picked up in her wheelchair from her home by a special vehicle and returned at the end of the school day.

Helen receives an allowance from the Government for the care of Evie.

There are various grants available for house alterations necessary for the care of a handicapped person in Britain, but the process of approval can be extremely slow with many bureaucratic. Helen and Roger applied for a grant to alter their bathroom but it took two years for the Council to decide the quote that they had obtained was too expensive. They were told they would have to put in a new application with the expectation of a similar time delay.

Their house is too small for Evie’s special needs and they will have to take out further loans on an already heavily mortgaged home to increase the floor space.

On the positive side I have mentioned the other wonderful people they have met in the Rett Association.

Despite all her deficiencies Evie is a much loved child. Her little brother accepts her for what she is and romps over her sometimes giving her a kiss or a hug.

Roger runs marathons and raised eight thousand pounds for the UK Rett association by a running the London marathon. Helen is launching herself into a largely home based business to help supplement Roger’s income.

I have sent many picture letters to Evie. Viola and I do our best to help in the background but distance is a problem. Most years I manage to visit them. I intend to participate in a charity fund raiser by cycling from London to Paris next year. This is an incentive for me as a 74 year old to keep fit. So far I have collected over a thousand pounds in sponsorship for the UK Rett Association.

There are several things I have learnt as grandparent of Evie.

There is considerable ignorance within the medical profession about Rett Syndrome. There is a need to the profile of Rett Syndrome with the doctors and the public. Media interviews are one approach. Fund-raising would benefit the Association, and at the same time help to raise awareness.

The earlier the diagnosis is made the quicker parents are able to adjust to the situation. I regard the delay of over 12 months reaching the diagnosis for Evie as too long.

While medical and ancillary services are important, parents of Rett children can gain much from discussing their experiences between each other.

There is a need for effective group advocacy. There are special needs for bringing up a Rett child which are unique to the condition.

As well as the emotional strain associated with the care of a Rett sufferer, there are financial implications. The prime carer needs help, both on a regular basis and when an unexpected need arises. Unless those with authority know about the condition and what is required less than optimal assistance will be given.

Finally, I would stress the need for parents to be able to look after themselves both physically and emotionally.