"Marfan Syndrome, what's that?". The heart-piercing moment when her baby was diagnosed with a condition she had never heard of is indelibly etched into Charlotte's memory.
by Charlotte Nason
Marfan syndrome, what's that? That automatic sinking feeling when you are told your 18-month-old-baby may have a rare illness you had never even heard of before. I had one question, will she be OK?
At the age of 18 months, when Amiyah started to find her feet, myself and her father noticed she had turned-in feet, we contacted our health visitor who sent us to our GP and straight away from there we were referred to a paediatrician. At first we thought it may be hypermobility; back then, even that seemed daunting and scary, my baby unable to walk well, the feeling of us being left behind whilst other children younger than Amiyah were on the move and running around but not her, she struggled and things suddenly felt surreal.
Fast-forward to our paediatrician appointment, Amiyah was being checked over and the first question we were asked was "are you aware of any heart defects in Amiyah?" the answer was "no, no we are not" however, when Amiyah was just a baby she was admitted to hospital where a defect WAS picked up but later dismissed because I was told, "it was because she is unwell, I'm sure it'll be fine when she's better" well, it wasn't fine, it was far from fine.
From this, us and the paediatrician noticed more "signs" which were a sign of something he told us was called Marfan syndrome. Amiyah had a curved spine, long fingers and her arm span was bigger than her height, all these were traits of MFS. When she was born all these things were mentioned by people who met Amiyah but none of us took notice of it, we had no idea it "meant" anything. Looking back and knowing what I do now, she showed signs of Marfan syndrome from birth, and although no one followed up on these things, we are now thankful for such an early diagnosis.
My heart sank that day we hadn't heard of this condition, all we knew was the heart is our main organ and to know something was wrong sent me into sheer panic and shock and I just cried through the rest of the appointment, I don't remember much apart from the word "Marfan syndrome" and "heart defect"
We left that day worried sick and immediately done some research into Marfan syndrome, straight away I was convinced Amiyah did not have it so I ruled it out almost suddenly and we looked no further into the condition. I cannot tell you if that was denial or hope, because even though the signs were there, I was adamant it wasn't that!
If I'm honest, from there it was all a bit of a blur, within one month Amiyah had been clinically diagnosed with Marfan syndrome through genetic testing, as parents we then had to be tested to see if we carried the same Gene, we did not. Amiyah was what was known to be "spontaneous mutation" which meant this condition did not come from me nor her father, she is 1 in 5000.
We couldn't make sense of it, Why us? Why her? What now? What does this mean? Will she die? As morbid at that sounds, this is exactly what went through my mind, I was broken. We were broken, and this was just the beginning.
For the first year i just could not accept it, I didn't want to know what Marfan syndrome was, I didn't want this happening to my child, to our family, so I did little to no research. I did not talk about it, unless people asked, but then I'd just burst into tears, so I tried to avoid it as much as I could. I went along to appointments, I cried at most and never asked a question, not one that anyone could answer anyway. I just listened, heartbroken at a very unknown future. No news was ever good news so you just became used to it. Amiyah went onto be diagnosed with scoliosis, flat feet, mitral valve prolapse and severe regurgitation. It was a whirlwind of emotions, appointments and specialists, a world which was alien to me.
As time went on, the tears became less and I started to process the information I was given. I started to get organised, I still didn't read much about Marfan syndrome and decided to join a Marfan forum on Facebook instead, still to this day, those guys are as good as family. They have helped me through the toughest time of my life. I got most of my information from them, we would all speak and give advice to one another. I found this more comforting than reading stuff on Google. These were "real life" people who had a link with my daughter, people who understood.
I had a great support network around me but I didn't speak to anyone close to me for a while. I needed time, and although my friends were and are wonderful people, I had such envy for them, for their healthy children, they didn't understand! How could they? All these negative thoughts in my head so I broke away until I was strong enough and just confided in my forum.
Nearly 4 years on and things have changed so much, Amiyah has had a tough little life but she does everything with a smile which has been the sheer drive and determination that made me who I am now. At the young age of just 3, she had major heart surgery but her strong little character saw her recover well. She currently wears a body brace to help correct her scoliosis, but refuses to wear orthopaedic shoes. Just recently she was diagnosed with dislocated lenses but her glasses seem to be doing the job they need for now.