VLCAD- How This Changed My Life & I Turned Things Into a Possitive

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As you can see we are just like any other family, we both had great careers and life was pretty good. Me and Adam were newly married in July 2010, and by January 2011 we found out we were expecting baby number 2…. Jamie was going to be a big brother.

My pregnancy was the best out of the two other than low blood pressure, which I had to take early maternity leave …. not good passing out in front of your patients when your a nurse lol. I spent the last 2 months just relaxing at home, spending time with Jamie….. baby Liam arrived healthy.

Liam is now 3 weeks old and I am not feeling to good, I popped to the town as Xmas was round the corner …. 3 shops later I felt cold and shivery, my body hurt all over like lifting weights to move. When I got home I was passing black urine …. I felt awful. Adam was made redundant this day, it was all going on.

2 weeks later I finally went to the doctor as I felt so weak, like my head was telling my body to move but it just wouldnt move…. Lots of tests were done. Shocking results showed I had an abnormal liver function and muscle enzyme level, I was admitted to hospital for some fluids and referred to the rhumatology team. The words M.S, Stroke, Muscle disease was all mentioned…. how could this be I have just turned 30, I’m a mum and a nurse I have my whole life ahead of me. Several weeks past and I had to be referred to Addenbrookes Hospital as I needed a more specialised hospital to find out what’s wrong.

Muscle biopsies, skin biopsy and lots of tests later, I had a phone call from my consultant at Addenbrookes to tell me I had a muscle disease called ‘Very Long Chain ACYL COA Dehydrogenase Deficiency  (VLCAD) yeah I did what you just did, read the first 3 words then gave up lol. This is where my life changed dramatically, vlcad is a fatty oxidation disorder so my body can’t break down certain fats to convert into energy and that’s when a metabolic crisis can happen and muscle breakdown begins.  (See website for info)

My husband Adam and our boys were amazing, so much support and family and friends too…. so my first thought at diagnosis was why me? But why not, I had a choice I either give up or I accept this is my life and stay positive …. after all it wasn’t just me to think about, it was my boys and my husband… they need me just as much as I need them. I decided to fight ….still am fighting too.

Several months later we searched every website, blog etc and couldn’t find a thing…. then I set up a Facebook page called Living with VLCAD’ that’s where I finally found the Linford family, a family who also have vlcad in their family.  We are all like family now which is lovely and another positive that happened.

Together we have done some fundraising and fighting to have vlcad added to the newborn screening system, as screening is the vital process of diagnosis ….I’ve had vlcad from birth but just miss diagnosed all these years, but my younger days all makes sense now.

Me and Adam wanted to do something to help other families like us, so with chatting to the Linford family we decided to set up a charity to help others like us.

This is where ‘The Metabolic Foundation’ was founded and this has been the best positive that has happened since my diagnosis of VLCAD, we have met lots of families with fatty oxidation disorders as there is not just one. Our foundation has got bigger and better and we are very happy we can help others like us.

gemmaholtby30
Hi My Name is Gemma, I am one of the founders. I am the wife to Adam, and mum to our boys as well as a retired Nurse. Hi My Name is Adam, I am one of the founders. I am husband to Gemma and father to our boys.

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