The Medical Symposium, the Ordinary Mum and the story of an Extraordinary Girl

I'm writing this in a somewhat jetlagged state......

Yes!  I made it, following my successful crowdfunding campaign I was able to fly out to Seattle to attend the Costello Syndrome Family forum and more importantly present Daisy's story at the Rasopathies Medical Symposium.

When your child has a rare disease (and an even rarer manifestation of the syndrome) then the chance to meet with other families and to discuss issues with the doctors at the forefront of research into the disease is immeasurable.

It is rare to be in the same room as children and young people who look so similar to my own daughter but at the same time it was bittersweet as it really brought home to me how different Daisy also is to the other children who share her gene mutation.

I was so proud and happy to meet some of the young people we had first met back in 2007 when Daisy was only 2 and we managed to make it out to Portland for our first Costello Syndrome Conference. They are now adults , all addicted to their mobile phones, some living independently, talking, walking around and very much living their own lives.  It was lovely to know that for children who are born with Costello Syndrome, despite an often rocky start, things do improve and they eat and speak and walk and talk.  In fact the only adult with the syndrome I met who was still tube fed manages her feeds herself.

It was obvious that Daisy is very different, in fact her intestinal failure, seizures and behavioural/cognitive issues are more closely related to another rasopathy, CardioFacioCutaneous Syndrome (CFC) than Costello Syndrome, even though she tested negative for that.

Speaking to the Medical Geneticists attending the conference they are convinced that there is something else, as yet undiagnosed, going on with Daisy, quite possibly a mitochondrial disorder or some other syndrome.  We will go back to the genetics team in the UK for further testing, not because we think it will change anything but because it may help us in managing Daisy's care.

One of the reasons it was important to go out to the conference was that I also had the chance to present Daisy's story at the Poster Session launching the Rasopathies Medical Symposium (where medical experts involved in all areas of research and management of these rare syndromes were meeting to discuss the latest research findings and share ideas).

It was a great opportunity to show the little girl behind all the medical conditions, it helped the geneticists see that beyond the diagnosis there is still a little girl and a family trying to have a life.

I worked with the Rasopathies Group to develop the poster.  They wanted to prepare case studies for all the syndromes, each with a child and an adult story.  The provided me with a series of questions/headings that I filled in on Daisy's behalf, they then formatted the poster together with pictures of her over the years - it looked amazing and I was immensely proud to be able to share her story with so many people, my throat was hoarse by the end of the evening.

I'm planning to donate the poster to our local hospital and also give a copy to Great Ormond Street in order to continue the work of showing the human behind the diagnosis.

In the meantime, for those who were not in Seattle last week,  here are the words from my poster, these are the things that if Daisy could speak she would want the world to know, so on her behalf I am telling the world.

 Daisy Rose Nimmo, Age 10, London

Photo taken by Rick Giudotti (Postive Exposure) at the 2007 Conference in Portland

  • •  Going to school when I am able
  • •  Playing with my friends
  • •  Drawing
  • •  When my parents and siblings read to me
  • •  Chilling with my iPad
  • •  Visiting the children’s hospice which allows me just to be a big girl and do stuff on my own terms 
  • •  (I would love to do more activities but it’s difficult to find nurses who
    can care for my needs when my mum and dad 
  • are not around)
I attend the MSI (multi-sensory impairment) unit at Linden Lodge School in Wimbledon 2 days a week. Because of my complex medical needs I can only manage 2 days in school but I also attend a wonderful respite centre called The Children's Trust which is in Surrey two days a week.

When I first knew I had Costello Syndrome:

I am Daisy. I have never known anything different in my life. I was born early and have probably spent half my life in hospital. I rely on my parents, siblings and caregivers to speak and advocate for me and to make decisions for me. I just want to be a little girl but I am used to all the tubes that are part of me, I cannot remember a time without them because there has never been a time without them.

How I get help, and who my supporters are:
Because of my complex needs I need a lot of help. I have intestinal failure and now need Intravenous Nutrition (TPN) 24 hours a day via a double lumen hickman line. , I also have an ileostomy, a jejenostomy, a gastrostomy and a mitrofanoff stoma with a catheter into my bladder. I have multifocal 
epilepsy as well as a visual impairment. I communicate mainly through sign language but I understand a huge amount more than I can say.

My caregivers are mainly my parents - they are my voice. They manage all my IV drips and infusions and make sure I am safe, especially when I have a seizure. They also make sure that I get everything I need and that everyone, especially doctors and nurses, understand what I want and need.

I have some great nurse carers who help me have independent time away from mummy and daddy as it's important to me to get out and about and be a little girl. Most of all I love my big sister and big brothers, they make sure that I just get to have fun, we look at funny videos on YouTube together, sing along to Frozen and my big brother makes sure that my ipad has the best games on it. 

What I like about living with CS Syndrome: 
Having such complex needs means my parents want to make sure I have the most fun possible when I am not in hospital or feeling poorly. I have been able to experience a lot of fun things and meet a lot of amazing people that maybe I would not have been able to do if I did not have Costello Syndrome. I love my school because I have made great friends there and when I have to go to hospital I love visits from Singing Hands, my favourite singing group. 

What I would tell younger children with Costello syndrome or parents or doctors: 
I have probably got a lot more going on with me that most other children with this syndrome but this  has not stopped me from having a great life. Even though life is tougher as I have got older and my body is not doing the things it should I am still a happy person, I still enjoy visiting places in our new wheelchair van, I get to school when I can and I spend lots of time with my family and friends.

My parents would say that their life is very different to the one they thought they would have but they have learned to manage my care and we all have fun. They think of me as Daisy, not a syndrome. I know it was tough for them when I was first born but now I think they find dealing with my teenage siblings tougher than managing my medical care some days!  I know my mum would want doctors to know that I am Daisy, I am not a diagnosis, and although I cannot speak very well I can understand a huge amount and I have an opinion on what you are saying. Include me in your conversations please.

How to include me better: 
Please see me, I'm a 10 year old girl and in many ways I am not different to other 10 year olds. I'm obsessed with Frozen, love the colour pink, spend far too much time on my IPad and love shopping, going to the cinema and hanging out with my siblings and friends. I just need a little more help to do these things. Don't talk down to me but please take your time and check that I understand. Be patient and be confident with me and I will be your friend for life (I have my favourites though, bring me a Princess Elsa t shirt and you can be top of my friends list!)

What are my hopes for my life, what are my dreams? 
I don't know what the future will hold for me, I have taught my parents to live in the now. It's all about what we are doing tomorrow or maybe next week. If you ask me I'll tell you that I'd like to help my favourite singing group Singing Hands by handing out stickers to all the children at the end of a session. If you ask my parents they will say they just want me to be happy and comfortable and to have as full a life as possible, no different to what they want for my brothers and sister I guess. 

I had a wonderful time in Seattle, I gained so much new information, hopefully I shared some information and I spent time with my other family, the Costello Syndrome Community.

I missed everyone so much when I was away so was delighted to also come home to this wonderful surprise

My gratitude and thanks to everyone who supported me to get out to Seattle.  I think by sharing Daisy's story I touched many lives.  I was also able to gain lots of valuable information to bring back to her doctors in the UK.  I am so thankful that you helped me do this.

1 comment:

  1. So pleased that this trip went well for you. Am sure it's given you plenty of food for thought, that you really don't have time for, so hope you're out running again soon ;) x