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Updated January 2011
Charlie has continued to make slow but great progress over the past year.
He has managed to learn how to roll, sit up, crawl, pull to stand, climb the stairs ( but not mastered the art of coming down!!) and is now at the age of 17 months cruising around the furniture. We hope if he continues to progress he will one day be walking independently which would be an amazing achievement from when he was such a weak and floppy baby.
He continues to be fed purely by the gastrostomy although messy food play is being encouraged to see if his swallow can be reassessed. Charlie will not put any food in his mouth yet, but at this time is happy to play and be covered in puree. Charlie still has the speech skills of around a 3 month old baby and is unable to make many different sounds vocally, so communication is going to be a problem long term, especially when he has poor coordination with his hands so would find signing difficult.
Despite his problems Charlie has remained a very happy and content little boy who is interested in his surroundings and would light up any room with his bright eyes and gorgeous smile.
Charlie was born on the 27th August 2009 by planned C Section after a normal pregnancy and seemed at first a 9lb healthy baby boy.
He had a little bit of respiratory distress immediately after delivery with grunting and recession but no-one was over concerned and this was put down to the mucus sometimes associated with C Section babies. He passed all his checks by the paediatricians and we went home after 2 days blissfully unaware of the nightmare ahead of us to come in the following weeks and months.
Once home he struggled to take his feeds, lost weight, had some apnoea episodes and still seemed extremely floppy. He never woke for feeds and just wanted to sleep, sleep and have more sleep. On day 5 he was admitted to our local hospital where they began investigations on Charlie. After 2 weeks of tests and still no idea of what his problem was we were discharged.
Two days later my husband took Charlie to A&E at the Evelina after further apnoea episodes, and he was admitted to the neurology ward for extensive checks.
Heart scans, blood tests, urine tests, EEG, Brain MRI, and Chromosome testing all came back clear which was good but also frustrating because I wanted the doctors to find something, so they could sort the problem out.
An EMG revealed he had bulbar palsy which affected his coordination with swallowing but like the hypotonia he was suffering with, we were told that this is just a symptom and not the underlying cause. His cranial nerves were damaged but we still didn't know why.
The ENT consultant also diagnosed him with bilateral vocal cord palsy which was causing his erratic breathing. We were told the only option was for him to have a tracheotomy to ease his distress or to hope in time his airway opens up more when he grows which will help. We decided to hold off on the tracheotomy and hoped in time his breathing improved.
Charlie spent the most of his time in the Evelina asleep, he just didn't want to wake up, and when he did wake up he would scream in pain with the severe reflux he had.
After three weeks in the Evelina we were discharged and it was still so frustrating that we still didn't have a diagnosis and we just disorder know what we were dealing with. I kept asking the doctors - Will he walk? Will he talk with his vocal cord palsy? But no one had any answers. Take him home and see what milestones he makes and doesn't was the answer we received.
I must have spent days, if not weeks on the Internet trying to diagnose Charlie myself, typing in his symptoms and looking at all different syndromes and disorders, convincing myself one day he had Spinal Muscle Atrophy and would be dead in 1 years time, and then the following day I would come up with a different disorder like Cerebral Palsy and question the doctors on that disorder. They must have thought I was a mad parent and kept telling me its not my job to diagnose Charlie, it is their job, but after 3 months and endless doctors and tests I was losing faith that I would ever get to the bottom of it. As a parent it is not easy to accept that only time will tell us what disabilities and limitations Charlie will have. I found it impossible to accept that when we are in the 21st Century and can treat cancer, AIDS and a lot more awful illnesses, why no doctor could tell me the reason for Charlie's problems and whether he will be mentally handicapped and wheelchair bound. I did not want to hear the doctors saying Wait and See, Wait and See any more. I struggled to bond with Charlie as I didn't know what the future held, and felt helpless and at my wits end. The only good thing was that with all the stress and anxiety I was enduring, my excess baby weight disappeared and I was soon back in my size 8 jeans!
I knew in my heart it was bad when the geneticist said in her words- "If Charlie was my son i would be gravely, gravely concerned. Whatever he has is obviously extremely rare and if you are going to ask me whether I think he is going to be a normal 3 year old boy running around, then I’m afraid I don’t."
The doctors always said that they would do a muscle biopsy whilst under a general anaesthetic at the same time as the gastostomy to rule out muscle and mitochondrial disorders but felt that it was unlikely as his lactic acid was fine and the metabolic screening tests all came back ok.
We took Charlie home in November and he did make progress, slow but he certainly wasn't getting any worse. His breathing slightly improved, he put on weight from being fed with the nasal gastric tube and his apnoea attacks stopped.
He had his gastrostomy in early December and a Nissan operation done at the same time to ease his reflux. At the same time a muscle biopsy was performed.
He responded well to the operation, was soon discharged home and we carried on life as normal as possible. The Nissan operation was a huge success; he seemed a lot more content when awake and wasn't screaming in pain. Slowly he started taking an interest in his surroundings and started smiling and getting partial head control.
Out of the blue one Monday morning we received a call from the neurologist to say that the muscle biopsy had found an abnormality in the respiratory chain enzymes and he was low in Complex 4. I knew immediately that there was no cure for this, as I had read about mitochondrial disorders but didn't know much more than this.
My first question was - Do children live with this? Can they reach adulthood?
Charlie’s neurologist explained that they will be doing further tests to try and find the mutated gene which has caused this problem and we booked an appointment to see him the following week to start him on the Co Enzyme Q10 which isn't a cure but an antioxidant to help prevent further cell damage.
Once I finished the phone call I immediately felt a huge sense of relief that I finally had what I wanted for months- a diagnosis. It may not be great but I felt it was better to know what you are facing so you are fully armed, than not to know. When friends kept asking about Charlie at least now i had a name to quote, not that it meant anything to any of them but it made me feel better.
I spent that week finding out as much as I could about the condition and went on forums to speak to other parents with children with the same disorder. It was during this week, that we realised how bleak the outlook was. Fatal and progressive were not the words we wanted to read. Yes all children are affected differently and have different organs involved, but the cases I came across mainly died in infancy or early childhood. I began to become frightened and scared not just for Charlie but also for my other 2 children- Oliver who is nearly 5 and Jasmine who is 2. They seem perfectly healthy children now but my mind was racing - Will they start to develop symptoms? Do I carry the defective gene that has be passed to all my kids? Are we both carriers for the defective gene which is autosomal recessive and Charlie is the unlucky one that has inherited both faulty genes? These were all questions that I needed answering and the sooner the better, as I needed to know to stop me going insane.
Once the diagnosis was made we were referred to Dr Mike Champion a paediatric Metabolic Consultant and had a lengthy discussion with all our concerns. We are still waiting for the results of the gene tests to come back, and understand that this could take several months, which is an agonising wait.
On a positive side, Charlie is now 6 months old and is a very content and smiley baby boy. He still sleeps too much but now I understand that his body isn't producing enough energy I have more sympathy and feel less inclined to keep him awake when he is so tired. He is making good progress with his head control and is becoming a little stronger in the trunk, has found his fingers to suck and beginning to make more spontaneous movement with his legs and arms. To any stranger in the street looking at Charlie in the buggy he just looks like any healthy 6 month old baby and you really wouldn't know what he is dealing with. We will try and take one day at a time, and hope he continues to make progress against the odds, whilst we pray in the not too distant future a breakthrough will be make in the mitochondrial research and a cure will be found.
Caroline Camis xTweet