RettNZ Observations

NZORD Workshop on Managed Clinical Networks 17 Nov. 2009

Gillian Deane

National Coordinator

RettNZ

17-Nov-09 1

RETTNZ

• The problem of a wide geographic

• spread across numerous DHB’s

• Need for a Rett Diagnostic Clinic

• Follow up in the local environment

• Regular consultations

17-Nov-09 2

Incidence of Rett Syndrome

• 1:10000 -15000 live births• Although rare it is twice as common as PKU• 70 families with living children on our database

(since 1983) 20 deceased• The Privacy Act has inhibited flow of

information from Doctors to the Support group. • Parents are often too distressed to contact

RettNZ whereas they were grateful to receive a call from the organization

17-Nov-09 3

No New Zealand Rett Specialist

• We need special permission to be able to ask an international specialist to assess the girls.

17-Nov-09 4

Geographic Location

• There are families from

• North of Whangarei to Gore

• Gisborne to New Plymouth

• Christchurch to Westland

Whangarei

New Plymouth

Gore

Hokitika

Gisborne

17-Nov-09 5

Rett Diagnostic Criteria

• apparently normal prenatal and perinatal history• psychomotor development largely normal through the first six

months or may be delayed from birth• normal head circumference at birth• postnatal deceleration of head growth in the majority• loss of achieved purposeful hand skill between ages 1⁄2–2 1⁄2 years• stereotypic hand movements such as hand wringing/squeezing,

clapping/tapping, mouthing and washing/rubbing automatisms• emerging social withdrawal, communication dysfunction, loss of

learned words, and cognitive impairment• impaired (dyspraxia) or failing locomotion

17-Nov-09 6

Early Diagnosis Essential

• Many GP’s have not encountered Rett• Early diagnosis enables proper medical &

educational help• Because Rett is a sporadic mutation on the

MeCP2 gene it does not always test positive• Genetic therapy with Rett mice show the

condition is reversible-even some of the very sick little mice were cured

17-Nov-09 7

Rett Clinics

• Parents need a a diagnostic centre where they can be reassured by a trained professional. New Zealand does not have a qualified Rett Paediatrician. Special permission is necessary for international specialists to treat patients

• Associated chronic problems such as seizures & scoliosis require careful monitoring

• Practical solutions to vomiting, constipation, breath holding, sleeplessness and handwringing need daily management

• Girls with Rett often need glasses. A Swedish study has suggested 25-30% require glasses

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• A positive diagnosis enables the right protocols to be followed

• Diagnosis allows a plan to deal with complex health issues • Diagnosis enables referral to other medical specialists with

an explanation of the unusual characteristics• Cost of caring for high needs children & adults • Medical expertise is necessary for adolescent and adult

women

Family Anxiety

17-Nov-09 9

RettNZ President’s Dream

• “My ultimate goal is to have a 1 weekend a year medical  checkup workshop where all families can bring their kids to one central point to talk with Rett specialists about seizures, scoliosis, .... and have these notes used as a base line to give back to the relevant GP's and Paediatricians in the families areas. Australia is doing it now. The costs would be specialist travel, accommodation and may be travel for families. Perhaps we could work with Ronald  McDonald house if it was at Starship to help house families.”

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When Childhood Ends

• Medical problems continue

• Moving from a Paediatrician

• Mental and Physical stimulation

• Is necessary

• Continued expert help essential

• Adult women with Rett need very substantial medical and physical support

ACTIONS NEEDED

• ACTIONS NEEDED. • We need to engage a part time contractual staff person to work with the present

set of volunteers to promote more interaction between families and teachers, therapists, medical experts, and people skilled in the challenges of Rett Syndrome to provide underlying support to families and the girls with Rett Syndrome.

• Specific activities which will give this project substance could include:• 1. organizing further workshops and a national conference planned for May 2010 in

Auckland; • 2. improving the web site to provide more information for parents and in particular

to promote dialogue between parents on the web site on a secure basis; • 3. to keep our now substantial database updated and to further enhance it; • 4. to help respond to the many queries and calls for help and support from families

under stress and to help guide them to expert help; • 5. to provide advice and guidance on medical and therapeutic opportunities; • 6. to provide guidance on opportunities to obtain additional funding help for

families who need respite care;• 7. to help parents locate appropriate expert diagnostic assistance and medical

care• 8. to advocate for families with girls with Rett Syndrome who need more support.

•Rett Syndrome is a degenerative neurological disorder that afflicts girls • It leaves them typically unable to talk, walk, or feed themselves.• It is the second most significant cause of intellectual disability in girls after Downs

17-Nov-0912