Gillian Deane
Although Dr Andreas Rett had described Rett Syndrome many decades ago it was not until a multi-national study between Drs Hagberg in Sweden, Dr Aircardi in France and a famous Spanish Pediatrician drew attention to a strange series of symptoms which has lead to the condition being the second most common cause of mental handicap in women. It is a fascinating journey following improved communication with the advent of the fax and the internet. Other rare disease groups have found the same patterns as Rett Families have discovered over the years. Kristen’s specialist from Washington wrote to tell me she had heard an amazing lecture in Baltimore and at the end of the lecture she put her hand up and said, “I have one of these girls in New Zealand.”
Dr Schulein gave me the name of Kathy Hunter. With Rett being thought to be a very rare disease Kathy kindly gave her name to these families all around the world. Within no time each of these families were searching for other families who may have been in the lonely state Kathy and Scott were in searching for answers to Stacie’s strange symptoms.
Kathy started off at her kitchen table and now has an office dealing with calls and contacts from all over the world. Like other rare diseases we are so much less rare than it was thought. Rob Pakes likes to say one girl is born world wide every ... minutes.
Kathy’s newsletter would arrive, we would copy it and send it to other families eagerly devouring the information and trying to understand why the girls had different “doses” of the symptoms and what the future held. So many unanswered questions were pondered over and shared by family, friends and caregivers. This newsletter was a special part of our lives and when it arrived it was so exciting.
Fiona Campbell and Moana would photocopy it adding NZ news and send it off as quickly as possible.
I remember when I met Mandy McBrayne in Christchurch and then visiting Tracey’s family in Hokitika I felt I may have met all the families in New Zealand on one day. I spoke to a social worker who said the symptoms were similar to what another little girl had suffered from in her brief life time. I should have heard the warning bells there were many more families to find.
Because there were so few families at this stage and they were in different parts of the country, we decided we were better to have an informal association where parents could contact each other but leave the complexities of the amount of care the girls required we would need to a Service Provider with a New Zealand wide network to enable parents to obtain the help families would need. Dr Terry Casseley was the President of IHC and JB Munro was the dynamic Chief Executive so they kindly agreed to promote the publicity for the Syndrome and to invite speakers from time to time to the Annual Meeting. Christine Morrison, Mother of Joyce is the President of the Gisborne Branch of the IHC.
Now that the girls have the right to attend State schools there are a wide variety of organizations that Parents choose to help with the care of the girls.
It is exciting to see the opportunities that are available and the independence of the girls as they go “flatting” just like others in their age group inspite of needing so much care.
When the syndrome is described Medical Specialists suddenly remember patients they have seen who exhibit some of these symptoms. In the same way as a trigger went off in Dr Andreas Rett’s mind when he saw two girls in his waiting room wringing their hands other Specialist recalled girls with strange symptoms that did not fit into known categories.
In New Zealand, Dr Terry Caseley learnt Kristen Deane had been diagnosed with this condition by her Washington Paediatric Neurologist Dr Marianne Schulein of Georgetown University Hospital. Before one reads about the different stages of Rett Syndrome may appear as four different conditions depending on age of the young girl or older woman a Doctor is interviewing. Terry attended a Conference in South America and began thinking about his patients who had exhibited some of these classic Rett symptoms. He diagnosed three girls as having Rett Syndrome, and then he remembered he had also seen Fiona earlier in her life and realized she had the characteristics of girls with Rett Syndrome. By 1987 he had diagnosed five of his patients as having RS.
Dr Mac Gardner added to our list with girls in Dunedin. Mac was fascinated by the stories about Retts and came to Wellington to meet Dr Naidu when she was visiting New Zealand. Later Dr Bobby Marks who was then based in Mangere Hospital recalled a number of girls and women he had seen and so the list developed from observation and learning more about the progressive nature of the syndrome. When Bobby went to Whangarei he found four more girls there.
Paul Field was sent an article about Kristen from a local paper and wrote from London saying his daughter Eowyn had been born in NZ. He kept us in touch with what the UK Association was doing. We kept in touch with Paul with being faced with similar problems across so many miles.
With Auckland being the largest centre of Population we were sure there must be more families in Auckland who would find some comfort knowing there was nothing they were doing wrong in their child’s development but a pattern that was there from day one. It would sound strange to some people but the guilt associated with not being able to retrieve skills that were lost is very difficult to deal with. The families found a great bond of common concerns and sharing ideas. For our 25 wedding anniversary Roderick asked me what I would like and I asked if I could attend the Rett Medical and Family conference in Vienna.
I learnt so much about the etiology of the syndrome and various ideas we could use in day to day management. I met Dr Rett and asked if he would like to visit New Zealand. He said he was delighted and would be happy to speak at the IHC conference in Palmerston North. We had Paediatricians from Otago Professor Mac Gardner and Prof Jeffery Western from Wellington waiting to meet him. Everyone was looking forward to the visit of this great Doctor with a heart of gold who had a magic way of describing the girls. He said you can see from their eyes how they are watching and wanting to know. He gave his life to looking for the answers although he often said the secrets would probably be learnt after he had left this world. You can imagine my feeling when his office rang to say he had suffered from a heart attack and was unable to travel for many months.
However, I put my thinking cap on and wondered who would be able to take his place at quite short notice. I had been charmed by Dr Sakubai Naidu at the Vienna conference. She is based at Johns Hopkins’ University in Baltimore and was gracious enough to step into Dr Rett’s shoes. She is so intelligent and committed to Rett research. Sakubai said she would be very happy to visit New Zealand. We all learnt a lot as well as had a wonderful time asking all the questions that had been on our minds. Sakubai was one of the lead speakers at the IHC Conference in Palmerston North. It was a weekend to remember forever. There was an emotion charged element to it as we were hearing from an expert who had seen so many girls and could answer our questions. She would tease me saying “They are much tougher than you think. They appear so fragile and have this great positive attitude to wanting to live and to make the most of their lives.”
In 1988 Dr Gardner and Dr Cyril Chapman started to collect blood so testing could begin on the girls in line with tests being pursued by laboratories overseas. Dr Gardner diagnosed several girls with the symptoms of Rett Syndrome in the Otago region.
Sakubai spoke at the Med school and inspired people to keep an eye out for any more girls. Sakubai enjoyed meeting Julianne and Aroha Ririnui at the conference. Aroha was the first Polynesian girl to be diagnosed by Rett Syndrome. Julianne was asked if Aroha could go to Baltimore to Johns’ Hopkins University hospital to be part of the Study of Rett Syndrome. We fundraised to send Julianne and Aroha to go to the prestigious Kennedy Centre .When interviewed by the Waikato Times in April 1989 Julianne said “She supported any research which would give a better understanding of the disorder.” Julianne and Aroha left to go to Baltimore in May 1989. Julianne was able to ask many questions but at that time there were very few answers.
Prof Mac Gardner obviously gave memorable lectures to his Paediatric students as years later Dr Michael Sullivan remembered the description of RS and whilst attending a Paediatric conference in San Francisco and heard the late breaking news about the gene causing Rett Syndrome. Mike stopped at the Rett Syndrome Booth and talked to Kathy Hunter who quickly put him in touch with me. What a valuable collaboration that turned out to be for Rett NZ. It will be wonderful to have Mike and Kathy on the same platform at the Rett NZ conference in April 27–28, 2007. Mike with his gift of being able to explain complex science as though it is a bedtime story and Kathy with her grasp of Science and a parent perspective.
Jenny Wheeler, a cousin of mine kindly organized an article in the Sunday Star Times interviewing Dr Naidu. The article found more families – the media is interesting as the families were in the geographic area of the Star Times circulation area. Our Auckland region numbers were beginning to build up but still short of the numbers there should be in this area.
Tom Scott, the famous cartoonist, is a good friend of ours and devoted to Kristen offered to help me to get Television coverage to explain Rett Syndrome to include the South Island and the lower North Island. We realized we needed a two pronged attack one to let the Paedatricians know about the complexities of Rett Syndrome. If one had not seen the bright eyed toddlers one may not recognize the child who was wracked by anxiety they saw from ages 2–4 years. At this stage there was no information about Rett so I designed a book mark which was vetted by Dr Naidu to send to Drs with an interest in Childhood disorders to alert them to the research being done on this newly described condition. We realized the Drs would watch a video which was interesting being made by Tom Scott but a more serious one would have to be prepared for The Public at large.
Tom helped me to write NZ on Air grants and to find a sympathetic Director Chris Ghent and Camera man George would enable more families to be found. We had a wonderful gathering at the McBrayne’s home in Christchurch where we all discussed the various stages our daughters had been through and our reactions at various stages of their progress. I will always remember the Marks saying what a relief it was to know nothing we did caused the problem, Rebecca was Rebecca from the time of conception and we were not to blame. In the early stages of finding out about a condition we often go through a guilt phase. Future research would show Valeaha was accurate in her description of the genetic mutation.
Whenever parents get together we feel such a bond and the girls seem to respond to adults who know how they are thinking and what they are wanting. It is like being part of a family and the girls love interacting with others who can understand and respect them straight away.
Early on we had some girls who had Batten’s and other syndromes as they had no support group and we were happy for them to be part of ours as many of the problems we are faced with are similar. With Medical knowledge they now have their own groups but we understand when their symptoms and challenges are described.
Elaine Johansen, the President of the Swedish Rett Association realized her daughter Pia had trouble seeing well and with the help of her imaginative ophthalmologist designed a simple test of the eyesight of the girls. Pia was so excited when she received her glasses and looked around with great excitement. Elaine has great energy and went to Romania to help supervise some to the girls who were in orphanages and were suffering from the symptoms of Rett.
In Spring 1997 we were able to announce that Dr Ingegard Witt Engstrom would be visiting New Zealand. Ingegard had worked closely with Dr Bengt Hagberg in Sweden. I first met her at the Vienna conference, where she gave an outstanding lecture to us. Ingegard’s daughter was a field scholar in New Zealand so this was an excellent opportunity to catch up with all the latest scientific knowledge being worked on in Europe. Parents had the opportunity to meet Ingegard and to hear ideas of how different treatments had helped different girls at various stages of their development. Ingegard was able to meet a number of prominent New Zealand Paediatricians and to provide and update on recent conference proceedings.
Robert and Margaret Van Rooyen organized a wonderful day in Matamata where families from the middle of the North Island all got together to ask questions and to exchange ideas.
Later, in 1995, after our daughter Kristen died we tried to think of what we would have liked when Kristen was small, by way of advice and we determined we would ask Kathy Hunter the founder and President of the International Rett Association if she could visit New Zealand. I love the old saying we have on my parents Gravestone – “Their lives live on in the hearts and minds of those who loved them.” We thought Kristen’s influence could be perpetuated by helping parents and teachers to get updates on latest ideas and there is an element of comfort hearing from a Mother and an Expert with such wide experience and world wide knowledge.
Kathy’s visit was special as Parents could relate to her as a Mother and ask her personal questions about their daughter’s development and symptoms as Kathy had experienced many of these problems in her own life and by being in touch with so many parents world wide. Kathy is also on the Board of the prestigious National Institute of Health at Maryland near Washington DC We were able to share Kathy’s visit with our Australian friends who had set up their organization after us however, with such a large population they have so many more girls. Kathy was interested to meet a young woman who had Rett Syndrome and Down Syndrome.
Kathy was able to visit us in March 1999. We met parents up and down the country. It was a special time and I know parents like Christine and Val Morrison said Kathy gave them the courage to have the scoliosis operation performed at a time that would benefit Joyce for sitting and standing as she became older.
This was a very exciting time for the world wide Rett movement as we felt we were on the verge of the scientists knowing what had caused Rett and would lead to us being able to understand and treat the degenerative process.
Kathy emailed with excitement, “The greatest news from the Neuroscience meeting is that, again, word has it the gene is close (if not already found.) As you know it is a close race and researchers tend to hold it close to their chests until they have found something concrete to announce. Five different labs have narrowed the gene to Xp28 (long arm of X, distal end.) There are thousands of potential genes there – and lots of disease genes already identified there. I really am confident about this one. I will definitely keep you up on this one!”
During Kathy’s visit she was on tender hooks about when the news would break and who would have won the initial race to cure Rett Syndrome. Each day she was hoping for the news that would break while she was in New Zealand to share it with us. Sometimes when one is busy working day to day with the girls the Research seems a long way away. However, the recent work by Prof Adrian Bird has shown that hopes and dreams and belief are not in vain. Even the little mice with Rett Syndrome symptoms got better with gene therapy and the very sick little ones got better too. Our Mike Sullivan did his PhD on methylation and this is the secret of his work with Wilm’s tumour in children. It is also a product of the misbehavior of the methylation process which is governed by the gene MeCP2. Mike’s interest in Rett and his devotion to our cause have meant families can have their daughters tested in New Zealand at no cost.
At first this happened at the Cancer Genetic Lab at the University of Otago where Mike was working with the brilliant award winning Prof Anthony Reeve. Mike was one of Tony’s star pupils! Libby Caygill was a biochemistry student who became interested in this work and after achieving first class honours in New Zealand was awarded a full bright scholarship at Columbia University in New York to continue to study the complex nature of the genetic problems which relate to Rett and other syndromes. Last year we were all very proud as she was one of the finalists in the American Women in Science Awards.
John Forman, who has twins with a rare disease, asked other groups if they would join with him to present a case to the Royal Commission on Genetic Modification from the parent’s point of view. With the conditions our children being so unusual and the fact that we have the potential to cure these conditions in the next few decades we were able to present a realistic point of view to the Commission. Our journey had meant we had read widely and exchanged the history of our children’s conditions with professionals and other parents. The combined expertise was very interesting and with John’s powerful and committed dedication we forged ties which led to us combine our resources as a group to have an umbrella group to lobby the powers that be. Who knows which group will have the first break through, the first cures will be expensive and we will need to help which ever group is looking for this cure to become available. In the long run what seems expensive in terms of treatment will be weighed against the long term suffering and huge burden on families and the state.
We are grateful to John for his drive and energy which have helped all of the organizations who are under the NZORD umbrella.
Each of these groups had found a huge increase in knowledge with the improvement in communication. Diseases which had seemed rare were now more common than previously thought. The other wonderful aspect was the communication with the Doctors and Professionals led to a great understanding by both groups. In the case of Retts there is a warm relationship with the Doctors and a sharing of Knowledge.
For many years IHC kindly included our organization under their generous umbrella, helping us to send out our newsletters before the advent of email. In 2006 Rob and Megan Pakes were looking for other families to share their journey with and have become great activitists and now we are at the very exciting stage of having our own organization called Rett NZ. Rob and Megan went to the conference in San Francisco and learnt so much from the experts and about fundraising and came home determined to get all the parents together to learn and to share information. What a lot has happened in eighteen months with their energy and determination.
October 2006 was a busy time for the Pakes as they organized a dinner at Rydges Hotel in Rotorua to raise funds to hold a conference in Rotorua in April 2007. Every table was sold and there was a waiting list. Their guests had a fabulous time and the generous people who donated auction items enabled the Rett NZ committee to plan the conference and invite speakers who could update the parents on latest Research but give practical advice to the many questions parents, teachers and grandparents have in relation to the girls.
Generous sponsors have been helping us with our promotion. Rob and Megan have discovered some new families and other people have passed on the article to parents who now realize their daughters have Rett. No wonder how painful it is finding out what has been happening to our darling daughters with “the burden of not knowing” lifted our minds and hearts seem to be able to cope with many more things once again.
Finding parents and families brings back the ache but also the relief after years of searching there is an intellectual comfort of solving the jigsaw that has exercised our minds for so long.