THE BARTOLO FAMILYS JOURNEY OF DISCOVER

It is hard to believe that it is almost a year since Roger (President, Darwin Club) last invited me to one of your dinner meetings to speak about Jessie and CFC syndrome. At that time, we had not even started to plan our journey to the USA to attend the CFC Family Network conference. Now, we can all look back on the successful fund-raising campaign and the opportunity this provided to raise awareness of CFC syndrome in the Darwin community.

THANK YOU KIWANIS FOR ALL YOUR HARD WORK AND ESTABLISHMENT OF JESSIES TRUST APPEAL. IT WAS A HUGELY SUCCESSFUL JOURNEY - AND WE WOULD NOT HAVE MADE IT WITHOUT YOUR SUPPORT.

Our journey started in Sydney, where we stayed with Rockys parents for 5 days before the big plane trip to Los Angeles. While there, we took Jessie back to the genetic department at Sydney Childrens Hospital where she was first diagnosed in the year 2000. Dr Mowat was really pleased to have the opportunity to see her again (we have kept in contact with him by E-mail over the past 3 years). He had arranged for his Registrar and a group of student paediatricians to meet with her as well. Jessie was Dr Mowats 1st case of CFC syndrome and now 3 years later, he told us of another probable case that gives an indication of how rare the condition is.

While in Sydney we also had the chance to meet Steven Arnoldy, a 25 year old CFC man. It was very emotional - as it was the 1st time the families had ever met with another CFC person. Stevens Mum kept saying she had waited 25 years to meet another CFC person! Steven and Jessie bonded well, and it was a very special meeting.

Next stop was California. We had been invited to stay with a family with a CFC daughter, Emily, around Jessies age. Molly Santa Cruz and I had been communicating by E-mail and telephone for almost 3 years. We all really enjoyed our stay on the central Californian coast - it certainly is a beautiful place, the beaches were great and of course we all enjoyed the Californian hospitality, although 15 year old Tynan was a bit shocked to learn a woman was killed by a shark the week we returned to Australia ! We gained so much from living with another CFC family and attending therapy sessions with Emily. While in California, we also visited Disneyland and the zoos in San Diego.

July 16th arrived far too quickly and we flew to the opposite side of the USA to Washington / Maryland to attend the 2nd International CFC conference. The next 5 days was such an amazing experience for us all. It was incredible to meet other CFC kids and their parents face to face. It truly is quite uncanny to see the physical resemblances, similarities in expressions, gestures and habits with the CFC kids. So many seem to share similar likes and dislikes as well. Photos are great, medical reports provide valuable information - but they simply do not compare with face to face meetings.

One way to describe the conference was that it was like attending a family reunion, because it really did seem like we were related to each family in some way. There were so many stories and experiences to share with everyone, and throughout it all there was a feeling of "coming home" and an extraordinary sense of belonging and camaraderie. Our son Tynan really enjoyed meeting other siblings; seeing other CFC kids, and he said it was a good feeling to understand that he was not the only kid in the world with a CFC sister.

Around 30 families attended the conference, and this provided a unique opportunity for the medical board and research doctors to continue their research programs. Jessie attended the CFC clinics and was assessed by:

Jessies diagnosis of CFC was confirmed as a "classic" case and we were asked to participate in the research programs. Jessie had facial measurements taken as part of a long term study to assess how the face changes over time, with the objective of gaining an improved ability to recognise dysmorphic syndromes. We also donated blood to the newly established CFC blood bank for future research projects.

One full day was dedicated to workshop sessions including:

The medical board also gave a number of presentations:

Over the 5 days, we felt like sponges - trying to absorb as much information as we possibly could.

As a family we gained so much hope for Jessies future. During his individual assessment of Jessie, Dr Opitz was hopeful for her future development and advised of several cases he is following of CFC patients attending university/college, and studying an apprenticeship. He advised us to treat the first 8 or 9 years as the early development period for a CFC child, and he was very positive about Jessies current level of comprehension (receptive communication) and her sign language progress, which augers well for continuing development. We met a 13 year old Canadian boy who attends normal stream High School and is of average intelligence - yet he did not learn to talk until he was 8 years old.

To summarise, the CFC conference exceeded our expectations in so many ways and our attendance achieved the following:

* Jessies diagnosis was confirmed.

* Jessie was evaluated by 6 international specialists and we had the opportunity to ask questions about issues of concern.

* We participated in the medical research programs - with the hope of increasing knowledge about CFC. ~ more blood; more tears; more questions; more measurements !!

* We received up to date information on CFC syndrome and outcomes of recent research programs.

* My appointment as a Director of the CFC Family Network Board (the 1st appointment outside of the USA).

* Invaluable sharing of stories and information with other CFC parents and siblings - the value of which cannot be overemphasised.

Of course, there were other highlights, surprises, achievements, acts of extreme bravery and new things we learned during our journey:

* Judy overcame a chronic fear of flying - and I did not need to resort to the prescription medicine once! I guess something good must come from 70 hours of flying.

* Everyone (not least being me) was also amazed by some of my other achievements & previously unknown skills:

- successfully navigating the freeway system through Los Angeles

- braving a roller coaster ride for the 1st time in my life

- surviving the subway; and

- negotiating our way through a crowded security line at New York airport as the final boarding call was being announced for our flight. It seems men around the world are not quite sure how to handle an hysterical woman, and will do anything to shut her up !!

* Jessie turned out to be the best traveller in the family - she loved flying, was very adaptable, and learnt to sleep anywhere! She ate all kinds of different food everywhere she went, and often asked for more.

* She woke with a smile on her face each day.

* Jessie loves scary fast rides - but is absolutely terrified of soft cuddly Disney characters! None of us could work that out - perhaps it just proves that some things in this world are just not meant to be logical?

* Rocky discovered there are many different kinds of beer around the world - and they are all very cheap in California. So of course he had to try as many different kinds as he could ! It was sort of logical that you could buy beer in a drug store.

* Road-kill pizza is delicious ! It goes down really well with a glass of Moosehead beer.

* Rocky surprised everyone by learning to drive on the right hand side of the road, follow instructions from Judy, and it only took him 6 weeks to find the correct switch for the indicator lights!

* American teenage girls just love teenage boys with an Australian accent - gee that was tough for Tynan to endure!

* A thong means something different in the US - Tynan quickly learnt to say "flip flops" to avoid those strange looks !!

* Tynan also learnt that surfing is much harder than it looks on TV and that most Americans have never heard of cricket and have no idea what a wicket keeper does. But they all seem to know who Steve Irwin is.

* People everywhere love curly hair and Jessies hair was touched & stroked by so many different nationalities and people around the world - CFC definitely does stand for Cute Faced Children - as people throughout our journey warmed to Jessies smile and mop of curly hair.

JUDY BARTOLO

E-mail: judy.bartolo@nt.gov.au

2nd September 2003

For more information on CFC syndrome including photos of the 2003 Conference, please visit the CFC Family Network website at www.cfcsyndrome.org or go to the URL on the Links page of this website.

Click here for the thank you from Judy Bartolo