When I was eighteen months old, the doctors discovered that I had liver fibrosis, but I always had problems which didn't fit the diagnosis. It was only when I was fifteen years old that I was diagnosed with MPI-CDG. I was the second patient in the world who was diagnosed with this illness.
As the years passed I became more and more ill and after a lot of research and meetings between various kind of doctors and scientists, it was decided to go for a liver transplant. Nobody with this disorder had ever had a liver transplant, but it was thought that a healthy liver would be able to normalise my metabolism. I was transplanted on the 1st of January 2012, so you can imagine that it was a really special Old and New for me.
I now lead a healthy life and blood test results no longer show signs of CDG. I'm working as a journalist and want to use my journalistic skills to create greater worldwide awareness around CDG in order to help other CDG patients and families.
Could you define your relationship with CDG and your feelings and experiences?
As I was the second patient in the world who was diagnosed with MPI-CDG the doctors knew little of this illness. I underwent several experimental treatments and when I was ill, doctors often said to me that they couldn't help me any more. Fortunately, I've always survived.
Another thing which I've experienced is that a lot of doctors know nothing or little of CDG and when they didn't understand for example why I had a lot of pain, or why I was short of breath, they've often said to me that it must be psycholoical, until the metabolic doctors found the cause of it. It's therefore so important to create greater awareness around CDG.
Have you've been involved in any patients associations during recent years? Have you've been in contact with other patients?
I work as a project collaborator for the World Conference on CDG and for the CDG Global Awareness project, I've written a few articles for the magazine of the Dutch CDG foundation (VKS), I also work as a Country Coordinator for Rare Commons in The Netherlands and as a contact person for Dutch CDG families.
Due to this work I am in contact with a lot of CDG patients and families, also with a MPI-CDG patient in The Netherlands who has also had a liver transplant. Because my transplant went so well, the doctors were prepared to translant her too and because we've been through the same we always call each other sisters.
What are your recommendations that you think will be a great help for families who have a child that is recently diagnosed with CDG?
I think it's important for these families to read as much as possible about the illness. The more you know, the more you can help your doctor, because with a rare disease as CDG good cooperation between doctor and patient is very important. Therefore it would be great if medical papers are translated into everyday language so that all families can understand them.
Other things that families can do is, for example, to attend the World Conference on CDG where they can get in contact with other families and share their experiences, but also to speak with doctors and scientists and to hear the latest news about CDG.
#Research is a trending topic word for patients with rare diseases and their relatives. What do you think of the productive initiatives that are on going at the moment?
I'm not a scientist, but as a patient and as a journalist I think the treatment with galactose for patiets with PGM1-CDG, which dr. Morava talked about at the 2nd World Conference on CDG in Lyon, is very promising as galactose also appears to be a potential treatment for multiple forms of type 1 CDG.
Do you think that patient advocates and parents are essential for research?
Patient advocates and parents are very essential for research because quite often a patient, or a parent of a patient, can indicate clearly what the problems are, what course the problems have taken and what things can influence the problems. They can indicate where more research has to be done, what will work in daily life and what won't work.
You are a Country Coordinator form The Netherlands. Can you describe your tasks and activities?
My tasks as a coordinator are to disseminate information about Rare Commons in The Netherlands and work as a link between the families and the research team from Rare Commons. I'll also give talks about the latest research findings at conferences in the field of rare diseases and glycobiology.
And finally, can you summarise in one sentence what you think about future treatments for CDG patients?
I think a real effective treatment won't take place in the near future as many CDG forms suffer for example from brain damage which can't simply be cured, therefore doctors, scientists and patients have to continue fighting this disease together.
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