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Journey to diagnosis: Madelyn

Last Reviewed 05/03/2018

By swan uk member, natalie stevens

My name is Natalie, and I am mum to Madelyn, aged six, and Freya aged eight. We live together with my partner, Richard, in Leeds, and Richard’s daughter, Megan, aged nine, comes to stay with us every weekend.

Madelyn is a very loving girl who is full of energy. She loves to keep us all on our toes. She likes dinosaurs, superheroes and singing. She doesn’t like sitting still or shopping – boy do we know about it when we go to the shops!

Everything that Madelyn does is a huge accomplishment. She struggles to do tasks that other children take for granted, but she continues to try, and it makes us proud.

Madelyn has Smith-Magenis syndrome (SMS), caused by a mutation of the RAI1 chromosome. It causes sleep disturbances, difficult and violent behaviour towards herself and other people, and autistic-type traits. She struggles with anxiety, which is also related to SMS, particularly around going to school and crowded places. This can make family life very hard.

We first notice that things were going to be different at Madelyn's first paediatrician appointment, when she was eighteen months old. Our health visitor had previously downplayed Madelyn’s delayed development, and made the referral to ‘put my mind at ease.’ Within minutes of entering the paediatrician’s clinic, they were talking about MRI scans, genome sequencing and metabolic tests, all of which sounded like gibberish to me.

Before Madelyn received her diagnosis, we struggled to get help with our concerns about Madelyn. The word ‘complex’ was said a lot, and professionals didn’t know which health issues and personality traits were part of her condition, and which weren't. Her behaviour was often put down to my parenting, and we were referred for parenting courses, all of which didn’t make a difference.
People struggled to understand that people could have a disability that was undiagnosed, and as such would think that it couldn't have been ‘that bad.’

Madelyn had her first chromosome test after seeing the paediatrician at 18 months old, along with metabolic tests. She was also referred to a neurologist, who started testing for specific syndromes that he thought could hold the answers for Madelyn. However, they were all returned with negative results. When we saw a new doctor one day, he noticed some facial features that other doctors had missed, and referred Madelyn to the Yorkshire genetics clinic. When we were seen there, we were given the details of the Deciphering Developmental Disorders (DDD) study. I decided to give it a shot, despite being told the chances of getting a diagnosis were slim.

Getting a diagnosis was extremely important. I wanted the best for Madelyn, and that meant getting help and support. We kept hitting barriers without a diagnosis.
I think that having a diagnosis has made people listen to my concerns a lot more. Madelyn is the only known person in the world with her particular mutation, so although we have a diagnosis, we are still on a learning curve, and have learnt to take each day as it comes.

So far, the best thing on our journey has been meeting other swan families. We wouldn’t have met so many wonderful people otherwise.

Now that Madelyn has a diagnosis I've found that I think about the future much more. We still have some unknowns as we don’t know how SMS will affect Madelyn in the future, but I know we can deal with whatever comes our way.

A friend I met through a baby forum told me about SWAN UK. She was going through genetic tests with her daughter who is the same age as Madelyn, and her doctor had told her about SWAN UK. As members of SWAN UK we've made many new friends, and experienced some fantastic days out and events. We have been on day trips to places like Flamingo Land and Sundown Adventureland and we've attended stay and play sessions where we’ve been made to feel welcome. These allow Richard and me to talk to other parents, while the children and free to play in a safe environment. I have also been to coffee mornings, where I have been able to talk face to face with the local Parent Reps. Most importantly, I've had somewhere to go for help and advice, and to offload where I know I won’t be judged.

Since becoming a SWAN UK member I have become more confident in dealing with professionals. I know what Madelyn is entitled to and I do my utmost to make sure she gets it.  

SWAN UK is a place where everyone belongs. It's one very large family, where you instantly fit in. Everyone shares the highs and the lows. I don’t know what our family would have done without them.





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