Welcome to the Prader-Willi Syndrome Association of New Zealand
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New Diagnosis Timeline

Following your child’s diagnosis, you will be referred for various appointments. This timeline aims to guide you through who you may see and when. It can also be used as a checklist for the supports and therapies available.

A paediatrician will ordinarily request the diagnostic testing for PWS and the results are usually available within 2 weeks. You will be referred to genetic services who can provide further details about your child’s test results and any possible implications for future pregnancies.

Your paediatrician will also refer you to a paediatric endocrinologist. If you would like your child to begin growth hormone therapy at the earliest publicly funded opportunity at 6 months, it is important to see an endocrinologist early on so that the necessary referrals and safety checks can take place. The endocrinologist will discuss GHT with you and refer your child for a sleep study and upper airway assessment. Before 6 months, you will also need to attend a training session on administering GHT injections which is run by a specialist nurse.

It is quite likely your child will have some feeding difficulties and require a naso-gastric tube for a period of time. A paediatrician or dietitian will advise on nutritional requirements. If there are concerns about a poor suck or swallow reflex, you should be offered support from a speech and language therapist who specialises in developing infant feeding. It is common for babies to be discharged with their NG tube in place and parents are provided with home care guidance and visits from nurses.

When your child is ready to go home you will be referred to Child Development and your child may be registered under a developmental paediatrician who will oversee their care. The Child Development team, service, centre or unit may also consist of physiotherapists, occupational therapists, visiting neurodevelopmental therapists, speech and language therapists and dietitians. Child Development services may be provided at the centre or in your home. Child Development can also provide any specialised equipment your child needs and refer you to WINZ for the non-means tested child disability allowance and to the NASC (Needs Assessment Service) for any home support needs (if this has not been done already by the hospital paediatrician.)

For some infants, a paediatrician may need to make additional referrals, for example: to the GP or orthopaedics for hip dysplasia concerns, to urology for undescended testes in boys, to ophthalmology for strabismus, for a sleep study if apnoea is suspected and to a respiratory physician or ENT if there are respiratory concerns.

At 6 months your child can start funded growth hormone treatment. Your child will need to have a repeat upper airway assessment 6-12 weeks after beginning treatment and a sleep study is recommended. Follow up endocrinologist appointments will continue every 3 months although in some areas where an endocrinology clinic is unavailable, a paediatrician or GP can write GH prescriptions.

Your child will be starting solid foods around 6 months old and a speech and language therapist who specialises in feeding difficulties can offer advice and support if you have concerns.

Therapy appointments through Child Development will continue. In some areas, early intervention trusts enable multiple therapy sessions in one visit from birth – places are limited and a paediatrician referral is usually required. These trusts often offer additional therapies with music, play, computer or hydrotherapy specialists. They can be found in Christchurch (The Champion Centre), Wellington (WEIT), Hamilton (The McKenzie Centre) and via Conductive Education who have centres around the country in Auckland, Hamilton, Taranaki, Wellington, Christchurch, Otago and Invercargill. Another early intervention service option is provided by CCS Disability Action in Auckland, Christchurch and Dunedin and they provide support from birth at your home and at your child’s ECE.

As your child becomes more mobile it may become evident that there are foot or joint issues that require specialist support or correction. A referral to orthotics may be needed.

If male infant testes are still undescended, surgery is planned which usually takes place sometime between 6 and 15 months. The procedure is called an orchidopexy which is performed under general anaesthesia.

At some point before your child attends an early childhood education centre, your child can be referred to the Ministry of Education Early Intervention Service. The Ministry of Education can provide early intervention services from birth so this referral may be done earlier, but it is often done before enrolling in ECE or by age 2 years. The service can provide Early Intervention Teachers (EIT), Education Support Workers (ESW), psychologist assessments and speech and language therapy. The Ministry of Education team will also work closely with your Child Development specialists at the Ministry of Health. An EIT will advise parents and teachers on what your child needs to learn and focus on, and may also work directly with your child. They are responsible for coordinating an Individual Education Plan (IEP) which outlines goals and the strategies, resources and supports required to achieve them. Based on your child’s assessment, an ESW may be provided for a set number of hours per week to support your child whilst attending ECE.

In some areas you have a choice of service provider: the Ministry of Education or a provider contracted by the Ministry of Education to provide Early Intervention Services. These include CCS Disability Action, the early intervention trusts and Conductive Education previously mentioned. If you are already receiving these services, you can choose to switch to the Ministry of Education service or continue with them – they have their own EITs and may provide an ESW to attend a community childhood centre with your child from age 3.

From age 3 your child can be receiving their free entitlement to ECE at a local childhood centre, but it is important to prepare for this in advance and ensure that the necessary support will be in place. You may wish to visit more than one centre to choose the one which best suits your child’s needs. Your early intervention team will help liase with the centre, organise an IEP meeting and request ESW support.

During the preschool years it is important to prepare for school and apply for learning support funding in advance. Your early intervention team will gather evidence and write an application for ORS funding which is more likely to be successful if applied for in the early years. If the ORS application is unsuccessful there are other funds which can be applied for. Your child does not have to start school until age 6 and can remain in ECE if you feel they are not ready at age 5. Before starting school it is a good idea to do additional school visits to help your child adapt and let the school get to know your child.