RettNZ Observations
NZORD Workshop on Managed Clinical
Networks 17 Nov. 2009
Gillian Deane
National Coordinator
RettNZ
17-Nov-09
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RETTNZ
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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
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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
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No New Zealand Rett Specialist
• We need special permission to be able to
ask an international specialist to assess
the girls.
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Geographic Location
Whangarei
Hokitika
Gore
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There are families from
North of Whangarei to Gore
Gisborne to New Plymouth
Christchurch to Westland
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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
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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
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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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Family Anxiety
• 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
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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
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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
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ACTIONS NEEDED
•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
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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.
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17-Nov-09