Medical Conference - USA

As  most of you know our youngest child, Daisy was born prematurely and soon afterwards was found to have the very rare genetic condition called Costello Syndrome.  Doctors were not sure if she would even make it to her first birthday but Daisy has defied the odds over and over and is now 10 years old. Costello Syndrome is a sporadic gene mutation of an oncogene which means she has a significantly increased risk of developing cancer.  She also has Intestinal failure and is totally dependent on intravenous nutrition (TPN) 24 hours a day.  She has epilepsy, cardiomyopathy, neuropathic bladder and is visually impaired and has a learning disability, she represents the most extreme end of the the Costello Syndrome spectrum.  If you were to meet Daisy you would not believe it, she just wants to get on with life and enjoy the time she has on earth with her family and friends.

My role since Daisy was born has been to learn as much as possible about her condition and how to manage her care in order to give her as much independence and control as possible.  I have received tremendous support from the community of families worldwide who also care for a child with Costello Syndrome.  In 2007 we were very fortunate to be able to take Daisy and her three siblings to Portland in Oregon to attend the Costello Syndrome Family Conference.  During this time we were also able to attend the Medical Symposium held at the same venue, attended by doctors and researchers with an interest in the group of syndromes called Rasopathies, of which Costello syndrome is one.

Since this time we have been unable to attend any further conferences as Daisy's health has deteriorated and she is unable to cope with a long haul flight without a considerable support team in tow.

The next Rasopathies Medical Symposium is scheduled to be held in Seattle in July this year (again the Costello Syndrome Family conference will run just prior to this).  I have been invited to present Daisy's story at a poster session during the symposium in order to help Doctors and Researchers to understand the extremes of the syndrome but more importantly to get to know the child behind the syndrome.

I would really love the opportunity to share Daisy's story with the medical community who are focusing their research on finding cures and treatments for Costello Syndrome and the other rasopathies. However it is just not financially possible at this point in time.  A few months ago Daisy's daddy, Andy, was diagnosed with Stage 4, advanced bowel cancer.  He became ill very quickly and as the chemo regimen he is on is pretty brutal he has not been able to work for several months. He runs his own consulting business so our family finances have taken a hit and a trip to the US for me to present at the conference would be out of the question at the moment.

I was going to turn down the offer then I was reminded of a brilliant Ted talk by Amanda Palmer called "The Art of Asking" - basically if you don't ask you don't get.  Encouraged by my family and friends I have decided to try and crowdsource the funding to get to the Symposium. 

I am asking for help to buy a return ticket plus 6 nights hotel accomodation at the conference venue.  We should be able to cover all additional costs.

By attending and presenting at the symposium I will be able to help those people at the forefront of the medical research into my daughter's syndrome understand the realities of life for a child with Costello Syndrome.  I also think it is crucial that their assumptions of the clinical course of the syndrome are tested by learning about a child who has manifestations not previously documented.   I will also have the opportunity to meet with other families caring for a child/person with Costello Syndrome.  With less than 300 reported cases world wide peer to peer support and sharing is crucial.

I can't offer you anything in return for your donation apart from the hope that it will go a little way to helping move mountains in the research into treatments and cures for genetic disease.  With my husband in the middle of chemo I just don't have time for a fundraising event but as a regular runner I will offer up the 12 Hour Enduro race I am running in June to all my donators in grateful thanks.

(Disclaimer: With a life limited child and a husband undergoing cancer treatment, life is very very unpredictable however with the support of my family and friends I hope to get to the states.  In the event of a medical crisis that means I have to cancel I will donate the funds raised to the Costello Syndrome Support Group to ensure they continue to do great work in supporting parents world wide).

Read more of my story on my blog at  www.wasthisintheplan.com

Learn more about the symposium at Rasopathies Symposium 2015

Here's the link to the Costello Syndrome Family Forum here http://www.costellosyndromeusa.org/