Monthly Archives: March 2016

Not Cerebral Palsy……….

I think its fair to say being told your child was misdiagnosed is hard, but again we are in the no mans land of undiagnosed. Another geneticist appointment may shed more light but who knows. When i went to Lewis’s peadiatrician appointment last week and she told me she didn’t feel Lewis had been diagnosed correctly i was not surpised, the diagnosis he had at 6 months old of Cerebral Palsy hasn’t sat right with us as parents for a while and other members of the family have felt the same. It was a diagnosis that seemed right for him at 6 months old when he was a stiff joined, developmentally delayed, tiny little boy with moderate feeding difficulties and a neonatal history that included seizures, being on an ventilator and brain damage. Last week his peadiatrician explained she had seen this before when a baby is born with stiff joints and has all the hallmarks of a child with Cerebral Palsy but then as the child gets older they get the more loose in their joints and eventually too loose in their joints. After she examined Lewis she informed me she was referring him to a geneticist to be tested for a connective tissue disorder called Ehlers Danlos Syndrome(EDS), a genetic abnormailty i myself was diagnosed with over a year ago. She felt that all of his medical problems could be explained by Ehlers Danlos Syndrome. Patients with EDS can have a range of medical conditions and as there is more than one type of EDS you can imagine the list is a long one. For Lewis his food allergies, severe gastric reflux, eye problems and his digestive system problems could all be symptoms of EDS.
When i was diagnosed with Ehlers Danlos Syndrome last february it was a relief to understand what was wrong with me and it was distressing to read that there is very little that could be done for me. I will have chronic joint pain and dislocations, fatigue, autonomic dysfunction, bowel and bladder issues for the rest of my life. The idea that Lewis has this is scary and knowing if it is EDS then it is down to my faulty genes. I gave it to him and thats a hard fact to swallow, so now i vasiliate between hoping he does get diagnosed with EDS because then we would finally have an answer to his undiagnosed genetic abnomality diagnosis and hoping it is something else so it wouldn’t be my fault. If we get an answer for Lewis then it is highly likely we will get one for Robin as it is believed they have the same condition but as yet the geneticist havent been able to find a condition that fits their symptoms. It seems now they may have found an answer and that is good and bad news all at the same time for us.
I want an answer, i want a name for this thing that has run our lives with surgeries, hospital appointments, gp appointments, countless days abscence from school, physio appointments, speech therapy, opticians, eye specialists, occupational therapy the list goes on and on. I don’t mean to sound like im complaining, im really not, im explaining in my own way because what has really run our lives since Robin and Lewis were born is one small word that packs a punch. FEAR.


Fear thats what has been driving us and drowing us all at the same time. This diagnosis comes with fear but it also comes with relief, no more wondering what they have, no more wondering what is coming. For all the crap that would come with an EDS diagnosis we know where we are with EDS, i have it and i have always had it. They will certainly not have an easy life but we will know what is coming and what we can do to ease the symptoms as much as we can. The idea of spending anymore time in fear of the unknown genetic conditions it could be seems a much worse prospect than getting a disgnosis of a lifelong condition that i understand how to treat and live with.
At the end of the day it could be something else entirely that they have, it feels wrong to be hoping with half my heart that they have the condition that i understand because we could deal with that and have been doing it for a long time now. The other half of my heart selfishly wants it to be something else because then i could blame something other than myself.
A mother wants to look at her child and see some reflection of themselves, notice how thier child looks, sounds or acts like them. I don’t want to be the one who gave them this, to know every surgery, all those apointments, and all that could be yet to come for them is all down to one stupid gene mutation i passed on and to add insult to that it was 50/50 that they would get the gene. I know it doesn’t make me a bad mother, i didnt know this could happen and i would do anthing to take that gene away from them. I’m not going to dwell on this or spend my life blaming myself but it’s ok that right now i feel utterly shit about it.






There are times like tonight when i cannot begin to describe the pain I am feeling. The throbbing pain from my hips to my knees is almost unbearable, I can’t sleep it hurts to move, it hurts to not move. I am not looking for sympathy in any way as it won’t help. I just wish sometimes I could explain what the white hot burning pain feels like and how never ending it can feel. I am lucky I know that, I can take strong enough pain killers to take the edge off this pain, I know others who don’t even get that relief. I feel like pain is a part of who I am and I wish it wasn’t. I am never pain free but there are times like now that it seems like it is too much to take and there are no words for how this feels. I probably talk about my pain too much, when something is there all day everyday it becomes such a part of your life you don’t even realise it’s taking over. Pain makes you moody, it makes you tired, it stops you enjoying your family and friends the way you should. 

I have read about people with chronic pain who push everyone away because of their moods and I never really understood it. Never understood how you could when you need people the most push them away. It’s clearer to me now, when it really hurts you don’t want to talk or laugh or be awake, everything just feels so hard and takes up so much of the energy you have left. I understand now how it happens, I know I am lucky I have so many people in my life. Pain slowly or quickly creeps it’s way into every part of your life, it quietly erodes your confidence, your happiness and your relationships if you don’t get help. It’s easy to say this but hard to do. 

Pain has changed me in some ways, it changed my career path, my mobility, my future and my family life. So I’m going to change all of these things to work around pain. I know pain isn’t going to leave so I’ll work around it and on nights like this I will cry over the unfairness of it and then I will carry on. I’m lucky, I know this because I can see past pain and while this may not always be true for now it is enough.  

I see and probably share pictures with ‘inspirational’ quotes about pain making you stronger or it ‘making you who you are today’. For the most part on a lot of days I believe in these things, but tonight at 1:08 am those quotes piss me off. How can this be character building or make me a stronger person when I have never felt so weak and helpless in my life. I know I will wake up and believe things will be better but in the dead of the night it’s hard to see the light of tomorrow.  

That’s enough waffling on feeling sorry for myself now. This writing is very therapeutic for me so if I had be bored you to sleep with my ramblings I apologise.