We have been extremely blessed in our lives in so very many ways, but at the moment, the most poignant to us is that we have the love and support of family and friends which has allowed us to accomplish some amazing things for our daughter.
When we were first given Nicola’s diagnosis, I felt that my world had been shattered… I couldn’t even talk about her without dissolving into tears and if anyone asked me about her diagnosis, I just couldn’t handle it. It was too much.
Then we made the decision to go to our first conference, which was an incredible 10 weeks after we got given her diagnosis. After two weeks of procrastinating and crying and deliberating, we came to the conclusion that if we were to accept our daughter’s diagnosis and her future (what little we knew of it), then we would have to go to the conference, we would have to do everything that we could to get our daughter there to the people that knew best.
With 8 weeks to go, we turned our appeal public, starting with friends and family and ending up in the local media… and we succeeded. In 8 weeks we raised enough funds to cover two adults and one child to fly to San Francisco, spend a week at the conference, pay for our accommodation and meals and everything, and then come home.
The trip, although incredibly stressful, was extremely successful. The experience was absolutely amazing, and one that I firmly believe not only helped us on our path of discovery for her daughter, but in fact saved her life.
We learned several things during that conference, one of which was that Nicola actually had a clinical diagnosis of a Chiari Malformation which, apart from causing her constant and chronic pain, it was also affecting her breathing and her feeding and pretty much every other aspect of her life.
The sessions that we attended with the conference and the connections that we made gave us the power to return home and fight for better healthcare for our daughter.
But beyond that, it gave us a chance at social inclusion… to stand with people who understood and shared our journey.
We were lucky enough again this year, through the help of some amazing friends who helped us fundraise, and the Grace of my Father in Law who got us over the line at the 11th hour, to be able to attend the first annual conference in the UK and the launch of the new international Rasopathies support group.
While again it was only a few days, it was a few days that have once more changed our lives. From a medical perspective, we had access to specialists and doctors that we had never met before who have had many years of dealing with Costello Syndrome in the UK, who were more than happy to sit down with us, one on one, and discuss Nicola and her health and her options. We learned about drug trials that will most likely be beneficial to stabilising some aspects of her health, and improving others. We learned a whole bunch more scary statistics and facts about our daughter’s future, some stuff that we didn’t necessarily want to know just yet, and some other stuff that is great to know, just to keep in mind when things happen and we need it, stuff like muscle contractures, tight heel cords, cardiac problems, neurological problems, skeletal issues, growth hormones, etc.
We got to spend ages talking to a mobility specialist and found out what kind of wheelchair we need to get for Nicola, so now all we need to do is to find the funding to buy one for her!
We also got to spend a few more days with the families who are walking this path with us… some of whom we had met last year in San Francisco, and some of whom we knew only over email. It was great to be able to put faces to names and meet some more wonderful children… it was also great to meet some of the other Rasopathies families (Rasopathies are other syndromes that are related to Costello Syndrome and come under the same neuro-cardio-facio-cutaneous syndrome banner. Many of the symptoms and treatments overlap. By grouping them together under one Rasopathies banner it increases the numbers and makes them more viable to researchers and for funding etc).
Nicola (and us) were invited to a lovely high tea at the House of Lords overlooking the River Thames which signified the launch of the new support group and we talked about the future, and we even managed to fit in a few hours of sight seeing in London!
All in all, it was another amazing experience, and one we are truly very lucky to have received, and one we are very, very grateful for. These experiences give us the strength and knowledge to fight for our daughter’s medical needs, as well as the social interaction to abate the loneliness and isolation that comes with dealing with such a rare and daunting medical condition.
We wouldn’t be able to do this without your support… so thank you.
From the bottom of our hearts, thank you for the opportunities you have helped to give to our daughter.