Tuesday, 28 March 2017

"Near enough is NOT good enough"

We are the Crowe family from Canberra; Vanessa, Richard, Sophie (22) and Angus (19).

Angus was diagnosed with PWS at the tender age of 8 weeks of age. Even after 19 years I can still remember receiving the phone call from our Paediatrician telling me our beautiful baby boy has PWS. I was looking at my darling, innocent son the whole time I was on the phone and I wondered what the future held for him; would he have friends?  Would he learn to drive?  The phone call brought devastating news for us and the information I was given over the phone by a previous PWS NSW spokesperson was not so great, in fact was so upsetting and heartbreaking, I decided at that moment I would do anything to give him the best chance ever. 

After visiting our Paediatrician the following day, the next stop was to visit the ACT Genetics Service. We met a wonderful geneticist, Dr Anne Turner, who gave us the best advice ever which even today I am so grateful for. Through our tears, she told us to take one day at a time and not to keep looking too far in to the future otherwise we would miss Angus’ milestones; she was so right. Our first PWS NSW (New South Wales) meeting was on our 5th wedding anniversary when Angus was 3 months old.

The piece of advice I would give a newly diagnosed family is (I can’t stress enough how important therapy)  speech, physio and occupational therapy. I did everything that was asked. Yes, it was hard work and was a constant reminder that we had a child with a disability but I truly believe Angus is the man he is today as a result of all the support he received as a baby and young child. 

Our mantra for Angus is “Near enough is not good enough”. Even when Angus was still in the NICU after being born he started speech and physiotherapy. He then had regular therapy from 8 weeks of age right up until he started school and then some. Angus attended therapy sometimes up to 3 times a week. I remember one year clocking up 50,000kms in my car between therapy and medical appointments. 

Angus is very active in Special Olympics. He attends swimming and plays basketball, football and cricket which is also a wonderful way of continuing to get physical therapy in to this life. I highly recommend Special Olympics.  Angus also played mainstream basketball -  it was such a thrill to see him play cricket and football; it meant he could now really be like his childhood heroes of sport.

Growing up, Angus was amazing. His long-term memory used to fascinate people. For example, he would ask friends what all the keys on their keyring would be used for and then each time he would see them he would go through each key and tell them what it was. His love of sport was his passport to the world. He still loves to find out what team you follow and will recall games and scores especially games against his beloved Raiders and St George or Sydney Swans. He has brightened our lives. We now follow cricket, tennis and darts and all types of footy; male and female teams. He is well known in Canberra and we can’t go anywhere without someone recognising him.

We were fortunate to be able to send Angus to Turner Primary here in Canberra. This is a School that runs a special education program alongside a mainstream program. We loved the fact that Angus had his own classroom with 6-8 other students to get the intense schooling he needed but also had the opportunity to be part of a mainstream school where acceptance of students with a disability was just the norm. 

He then went on to a special education high school until Year 9 when  it was suggested he attend a mainstream high school from Years 10 to 12. This filled us with fear as we now had to deal with a canteen!!! The support we had at Marist College, Canberra was brilliant. Yes, we had daily challenges and yes, Angus’ tiredness really made it hard for him not to be grumpy during the day, but we were so grateful that he was able to have the opportunity of being part of this community which focuses on social justice. It was a community that not only accepted him fully but also challenged him beyond our wildest dreams. Needless to say, we were so proud of him when he completed the Year 10 Outward Bound Program and especially when he graduated Year 12.

PWS is not only devastating for the individual but also for their families – there is no way around it. They are some of the most discriminated people in the world – unless you are immediate family or specialise in PWS, no one understands PWS as much as they would like to say they do. You are your son or daughter's advocate at all times. 

I still check in regularly to the PWS NSW and PWS Australia websites and follow the PWS USA Facebook page. They all keep me up to date with what is happening in the world of PWS. I still have times where getting out of bed each day can be a challenge but Angus has brought love and light to our whole family in ways we would never have thought possible. The promise we made to Angus when he was a baby still exists today. We recently bought a workwear and promotional business so Angus has a meaningful and structured working environment. Angus embroiders caps and weeds vinyl for pressing (where you peel the excess vinyl away from a printed logo and then work on the finer details of the logo with a vinyl picker to ensure it is ready to be pressed on to garments) and each day he is learning new skills on how to work in an office. During that phone call 19 years ago, I couldn’t imagine Angus learning to drive but Angus passed his Learners Licence and is now driving me to and from work. Getting his full licence will be a challenge but in the meantime, he is driving. We have come a long way on this journey and we still have a long way to go. We are currently looking into long term supported accommodation for Angus.


Monday, 20 March 2017

A Population-Based Profile of Prader-Willi Syndrome in Ireland

On March 9th the Irish Minister for Health, Simon Harris, launched a detailed report based on research commissioned by the Prader-Willi Syndrome Association Ireland (PWSAI).  The primary aim of the research was to map the support needs of families with a person with PWS throughout the life stages and to make recommendations regarding support provision.

PWS in Ireland
The Republic of Ireland has a population of 4.7 million including about 100 people who have been diagnosed with PWS.    Most of these are known to the PWSAI and 61 families in which there is a person with PWS participated in this research.

Two PWS-specific multidisciplinary clinics led by paediatric endocrinologists operate in Ireland and Growth Hormone Therapy, which was first licensed for use for people with PWS in Ireland in 2001, is now widely available.

The first and only PWS-specific group home in Ireland was opened in 2003.   

PWSAI was established in the 1980s as a support group for people with PWS and their families.  In 2002 it became a limited company and gained charity status.  PWSAI has no paid staff and is run entirely by family members of people with PWS.

The Findings
The research showed both positive and negatives.   One positive is that the age of diagnosis has been steadily decreasing in recent years with children born between 2012 and 2016 receiving their diagnosis within 4 weeks on average compared to 19 weeks for those born between 1999 and 2003.  The research also showed a significant decrease in the age at which children with PWS commence using Growth Hormone Therapy.  Children aged from 0-4 who were reported on in the study commenced using growth hormone at 1.7 years on average compared to 3.6 years for children aged 5-12 years.

The statistics in relation to the education and employment of people with PWS were less encouraging.  They showed that the majority of adults with PWS in Ireland have left school without any educational qualifications and that only one adult with PWS reported on in the study is currently in paid employment.

The report highlighted gaps in services too.  16 respondents reported that their family member with PWS would require full time residential care within 5 years.  A majority of respondents across all age groups also indicated that they required respite, but in most cases this was not available.  Among families with adults with PWS living at home only 25% reported receiving any respite.

As well as showing the many medical, psychiatric and behavioural challenges faced by people with PWS, the research also highlighted that PWS takes a heavy financial, physical and emotional toll on families and has a negative impact on siblings and family relationships.  The gendered distribution of care was also highlighted by the research - 50 of the 61 survey respondents were mothers of people with PWS, 3 were siblings and 8 were fathers.

Two professors from Trinity College Dublin (a psychiatrist and an endocrinologist)  generously gave of their time and expertise to oversee this research.  As part of the survey design they included questions and scales that had been developed around the world.

PWSAI  was fortunate to have received funding for the research from the Galway Cycle and relied on its own members and supporters for most of the work associated with promoting and instigating the project. 

While it is too soon to say if this research will lead to improved services for people with PWS in Ireland, the media coverage generated as a result of the research has already succeeded in shining a spotlight on the lives of people with PWS and their families.

If you are interested in reading the full research report you can access it here.   PWSAI is active on Facebook and Twitter and any queries about the research can be sent to info@pwsai.ie