Dear Family and Friends,

Yesterday the IHC library sent me a most interesting article on regular exercise for Rett girls. A study had been made of the girls using exercise machines regularly where like the rest of the population they were able to build up fitness levels. Although I cannot reproduce it for you it is available from the IHC library in Wellington. We are so fortunate having Liz McGibbon who keeps an eye on the literature for articles of interest to the wellbeing of our children. Essentially, regular exercise on exercise machines benefited the girls in a number of ways. Their co-ordination and general fitness improved and they seemed to enjoy the experience.

The latest Rett Gazette from Washington lists the research the IRSA has been involved in over the last few years and comments on the recent Canadian discovery that the MeCP2 gene creates a general MeCP2 protein and a neuron-specific MeCP2 protein. This will allow scientists to develop specific reagents to create bridges for those with improperly functioning proteins and genes that could alleviate symptoms and to screen for problems before they arise.

Many of the girls with Rett seem to have benefited from the addition of folic acid for the early folate/betaine study at Baylor. Dr Percy comments “the story isn’t over yet!”

Other exciting research which is being done by Dr Jaenisch and graduate student Sandra Luikenhuis is very exciting. With complex experimentation Luikenhuis was able to fuse usable MeCP2 protein into a genetic vehicle that drove it directly to neurons. We still think of the advances of PKU and by knowing early on in time we can use treatments to save children from the pain of the symptoms we know too well. Click this link for information on this breakthrough.

Research is being carried out with constipation problems at Baylor College. It is suggested that as well as raw vegetables a teaspoon of powdered vegetable fibre products can help the girls create consistency. Adequate water intake is important and necessary at all times but especially over the summer.

Dr Motil from Baylor and Dr Naidu from Johns Hopkins are working on problems of gallstones as many girls with RS suffer from gall stones. Gallstones are formed from excess cholesterol which crystallizes and forms stones which are stored in the gall bladder. Kathy has always said if your child has symptoms and seems to be in unexplained pain or distress to ask your doctor to consider gallbladder problems. 4% of gall bladder operations in USA are for patients under 20 years of age.

Dr Lisa Forman, scientific director of IRSA explains there is a new method for mutation testing - Multiplex Ligation-Dependent Probe Amplification (MLPA). Large deletions in the MeCP2 gene have been found in patients who initially tested negative. I know many of you were surprised by the results.

On the broader front, the NZ Organisation for Rare Diseases now have 100 groups associated with us. It helps to know we are not alone and we have all spent so many years struggling to find information and to try to learn as much as we can while we are dealing with busy day to day lives it is exciting to see the combined energy of everyone working together. The Ministry of Health has just granted us a salary subsidy for John Forman. This is an acknowledgement of how many people there are in the community have rare disorders. John and Prof Mike Eccles are working on developing a tissue bank similar to the cancer tumour tissue banks so we can avail ourselves of the best and most up to date treatments as soon as any are on the horizon.

Mike Sullivan writes from USA….. “Sarah Abbot is back in our lab having gained distinction in her exams results this year. She will begin with completing last summer’s and we plan to send out her clinical survey to families with our consent and information sheet for those who have not completed this yet. She will then submit the information to Helen Leonards database. She will also complete a manuscript she started last summer on a patient with Rothmund Thomson syndrome - a precancerous condition. I hope she will then do a paper for the NZMJ on Rett. I have asked her to do a "whats new in Rett" for your parents, to send out before Christmas."

As always I love to hear your news and see photos of your families.

With warm personal regards,

Gillian Deane