Two Year Duchenne Anniversary
The 28th March 2013 is a day we will never forget. We received the earth shattering news that our first born son Connor, conceived through long awaited IVF treatment had Duchenne Muscular Dystrophy. We sat in Green banks children’s centre, Garlinge with a Pediatrician and a physio therapist unaware of the news we were about to receive.
Connor always had a little waddle type walk, possibly a little bit of a strut. He was a little chunky monkey, probably one of the sweetest, best behaved children we’d known. This whole thing all started with The Piggy Bank Nursery in Westgate. They called me into the office one day a few months prior to our horrible appointment because Connor was very slow and struggling with the stairs up to his new pre-school room. We kind of dismissed it and said to give him time to get used to them. A month or so went by and still he was the same. We thought it was just because of the stairs, steep and small totally different to ours at home. We contacted the health visitor and after a few appointments we got a referral to the Pediatrician.
Connor had blood tests taken, we were unsure of what they were looking for at the time. The results showed he had high cpk levels which basically means muscle damage/leakage into his blood. Connors result was 16000 and I believe a normal person is around 300.
So we sat in this room on the 28th, a normal, happy family, our second child had not long been born on the 8th of February and BAM!!…we heard the words “your son has got Duchenne Muscular Dystrophy”. We’d never heard of it before so the Pediatrician went on and explained. We were told it’s a progressive muscle wasting disease, there were no treatments, no cure & 100% fatal. Boys are mainly effected 1 in 3,500. Mothers are normally carriers but not always the case. We sat there absolutely gobsmacked and traumatized with this awful news. By this time Wayne had walked out of the room, I sat there for a moment and thought “So what do I do?” So I left Connor in the room and went out to see Wayne, we cried, we talked for a few minutes, thought this is our child, sorted ourselves out and went back in a little bit stronger together.
She carried on and said to us he will slowly lose his ability to walk by the age of 10 and will become confined to a power wheel chair. Things will get harder with loads of problems along the way such as scoliosis, Achilles tendon surgery, respiratory impairment, cardiac troubles including heart failure, cataracts, stomach ulcers… the list is endless. Normally boys with Duchenne do not live to see past 20 years old. Pretty much every part of his body would become totally paralysed, unable to scratch his own nose, roll over in bed unaided and breathe without a ventilator although through all of this, his mind would remain totally fine and aware.
We were told there is nothing you can do apart from go home and love him like never before. We were offered counselling alone, as a family or a couple, of which we declined. We needed to deal with this ourselves for now. We left with a couple of leaflets to read up on Duchenne that she’d given us.
We came home and told our family of the diagnosis. I think we were all in shock. It caused a lot of worry for our family being mainly girls who were now producing quite a lot of boys in this next generation. With some family members that had just found out they were having a new baby also. If this was genetic and passed down through females, they could all be effected and all our little boys were around the same age as Connor or younger, not forgetting Kye his brother who had a big chance of also having the disease. He wasn’t even two months old!
This couldn’t be real they must have the wrong results, switched with someone else’s or a wrong diagnosis…something, anything but not this and surely not us. We asked for more blood tests to confirm and yes, they came back the same.
The reality really hit us hard the day after, this was our life now. Connor would never be a ‘normal’ type of child, the list of equipment would be pretty endless starting with a standard manual wheel chair or a big buggy, leg splints, insoles, power wheel chairs, head rests, ceiling hoists, through the floor lifts, ventilators, arm rests, straps, hospital bed with side bars. Then there was the amount of drugs he would need to take daily including lifelong steroid use. The hospital visits he would have to endure, operations to correct certain parts of his body such as his spine because he will would probably have a curvature at some point with rods being needed. There is so much to this disease, no one will ever understand fully unless you are a patient or parent. It is devastating.
We were helpless, we cried loads, it was as if we had already lost him. It was a grieving process. There was nothing we could do but surely there must be something….. We scoured the internet for months after looking for something anything that could help. We joined face book groups and no, there was nothing just a lot of helpless parents needing a treatment for their children. The only glimmer of hope we saw would be stem cells although not clinically proven to work it they regenerate new muscle cells but are only available in America and another countries. There are a lot of drugs coming into clinical trials, a long way off. We clung on to the hope that it would be in reach someday soon and in time for Connor.
We went for a drive about a week after still absolutely devastated for our little miracle baby that we fought so hard to get for years. We drove round Westgate beach, we drove along past the golf course on route to Birchington, both the boys fast asleep in the back of the car. We came to the bend, you probably know the one if you’re local to us. I said to Wayne I could just drive off that cliff right now, end this suffering. I cannot stand to watch our little boy at the time 3 years old, have a life like this. It is no life for him or us. We can’t carry on living in this depressed state and looking to this awful future we have to face. A bit of good news we did have is that Kye had his results back and he was all clear from having Duchenne. My results came back too, I wasn’t a carrier so I didn’t give this awful thing to Connor, it just happened randomly. It can be carried in females eggs which has put paid to me having any more children. I can’t take the risk, this is also quite hard to deal with.
We had a chat with family and friends after seeing charities, campaigns etc that had been set up by others to help create awareness and funds for the disease. We thought if no one has ever heard of this vile disease how can anyone help it. The government won’t fund anything for it because it’s classed as a rare disease although doesn’t seem that rare, affecting 1 in 3,500 boys worldwide and some even rarer girls.
On the 6th April 2013 we put a face book post out telling all our extended family and friends our sad news about Connor, that very same day we started The Caring for Connor Campaign to help fight Duchenne, set the mission of raising awareness, create some funds and join forces with other families to end Duchenne.
We were unsure of what this would be like, whether anyone would support us on this journey. What if we couldn’t do it, no one cared and it was a total flop, these were things that crossed our mind but we thought sod it. We can only try, we need to save Connor. So as a family we banded together, the face book page was up and running. Within the first few days we had three lovely guys jump in and offer us a wish list, so to speak of what we needed to get this started. They know who they are and we will never forget what you did for us in the first instance and continue to do for us even now.
The Caring for Connor campaign has gone from strength to strength, day by day. Not a week passes without someone contacting us and wanting to help us. The messages we receive are truly amazing and the help and support from the community is seriously overwhelming. What an amazing place we live in with even more amazing people in it. We truly are eternally grateful, it means so much to have everyone’s support. The campaign keeps us mega busy all the time as do the appointments, hospital visits, kids and life in general. It is madness, all we ever wanted was a peaceful, stress free life. Well not anymore, The Caring for Connor Campaign gives us amazing hope that Connor will be fine one day and hope is all we have at the moment. Drug advances are incredible and a lot is going on in the Duchenne world, we just need to create as much awareness as we can and keep the funds coming in as quick as we possibly can. Keep the momentum going. Time wasted = muscles wasted, which may never be able to be replaced. We’ve got so much going on in the way of events. Join us, help us build it bigger, better and let’s do this for Connor!!
This MASSIVE THANK YOU is to every single person out there that has helped us, that has run a marathon, walked a walk, sold a cake, put up a poster, delivered leaflets, brought a wristband, put a donation in to one of Connors pots, has a car sticker on their car, generally anything to support us.
YOU are the people that make this dream achievable and together we can end Duchenne.