To mark Rare Disease Day 2013 we have a story of just how incredibly helpful it is to bring people affected by a rare disease together.
A parent contacted our befriending scheme last November. She has two children, the youngest being two years old with sporadic aniridia and nystagmus. She was anxious about her daughter’s future and was initially put in contact with a young woman with aniridia who is 23 years old. From the quote below you can see that this proved to be very helpful.
“I wanted a contact who had aniridia as I felt that we had been given lots of information but were missing the personal aspect of living with the condition. My buddy was very open and honest and it was very helpful to talk to her. She was able to explain a lot about the condition that had either gone over our heads or we were unable to take on board.
We had been in denial that our daughter’s eyesight could be a problem as she was doing so well. My buddy explained how my daughter’s eyesight might deteriorate as she got older in a real and understandable way. She was able to answer the question that other professionals had been unable to explain to us. I think at the time of diagnosis we had been emotionally unable to take on board all the possible secondary complications.
We rarely saw our daughter’s consultant and when we did there was not enough time to process what he said in order to ask more questions. These questions were forgotten about by the next appointment six months later.
After speaking to my buddy, we spent a couple of weeks feeling like we were back at the initial stages of her diagnosis again with all the uncomfortable feelings this brings. However, we now feel that we have worked through this and we can support our daughter more effectively and realistically.
I also had a session with my daughter’s vision teacher who went through information on a website about aniridia; helping me to form questions to ask my daughter’s consultant next time we saw him.
Talking to my buddy has moved me out of denial into a place where I am more realistically able to support my daughter and find relevant services. Generally finding out more about the condition has enabled me to find a route to get my daughter an MRI scan to see if any other areas of the brain are affected which in turn will enable us to access relevant support earlier.
Apart from my buddy’s general positive attitude to life she was able to discuss with me what she had found helpful and supportive from both a parental and educational point of view. I have tried to adopt a ‘can do’ approach with my daughter so if she comes up against a barrier she won’t just stop but find another way around. My buddy has given me other ideas of how we can do this. I have never believed that daughter would live anything other than a normal life but it would perhaps be slightly harder for her. My buddy has shown me the realism behind this belief.
We have also found out about research into aniridia. The lady spearheading it had some helpful insights and knowing more about our daughter’s future, enabled us to face up to how vital and underfunded research is into the condition. By sharing this with our families they have supported this research by asking people for donations rather than flowers at my granddad’s funeral. ”
We have now also put this parent in touch with another family who have a child slightly older than her daughter.
If you would find having a buddy useful, find out about our befriending scheme.