I had to think carefully about what I wanted to say to them the last thing I want is to be negative, they work so hard for my family. But I also need to be honest, to get them to think a little. This next post, following on from ‘5 Top Tips for Medical Professionals’ highlights more personally what I spoke to them about. I tried to think about the things that they might not consider when dealing with my children, minus all the nitty-gritty about Ehlers-Danlos Syndrome (EDS), Charcot Marie Tooth Disease (CMT) and Dysautonomia.
Please consider these things when dealing with my little family…
#1 Everyone is Different
In our family four of us are affected to some extent by CMT, hypermobility, EDS or autonomic dysfunction or a combination of of these and we are all affected differently. The children’s symptoms range from just being a bendy to having fatigue, pain, hypotonia, leaky bladder, constipation, poor propreoception, brain fog, shortness of breath, chest pain, nausea, dizziness and palpitations.
As we all present differently it is vital that we are all treated so. It doesn’t mean that having a great understanding of how each condition typically presents isn’t a good starting point, it is. Having all the information can give you criteria to watch out for and monitor. However you must always bare in mind that having two rare conditions sees them interacting with each other and not presenting typically. In Charcot Marie a Tooth as the muscles atrophy the feet typically take on a pes-cavus deformation with supination. My daughters don’t. When I first went to the GP with concerns they definitely noted this and were less keen to refer her because she wasn’t ‘typical’ but at this point there was no EDS diagnosis in our family. Her feet are completely flat with pronation, so bendy infact that they often looked like they were on backwards when she was smaller and tried to stand. She has a CMT diagnosis now but typically hypermobile feet (in some cases of CMT patients can have completely flat feet too but this is not commonplace). I am hypermobile and have CMT and my feet have never been flat and pronated, nor have my mums who also has both conditions. Everyone is different and the having two conflicting conditions may alter their presentation.
#2 Parents will be at different stages of acceptance
Parents will be at different stages of acceptance for their child and may approach their care differently, even within the same family. When I was first diagnosed with CMT myself ten years ago I went through a long grieving process. I grieved for the things I knew I would lose and where CMT would impact. For my career, for the child I had and those I may pass it on to in the future and for my mobility as I realised that the disease would be progressive and take more from me. At this point in my life I couldn’t walk on grass without dislocating my knees which even ruled out a walk in the park with my dog or days out with family at country shows.
So when our daughter was diagnosed I was at a very different place to my husband. I knew that she had CMT, I knew deep in my heart, I was gutted when the doctor told us after horrible nerve conduction studies but I knew that they would be the words that we would hear. He, ever the optimist, thought that we might just have it wrong.
I deal with things by learning and getting that team approach that will best serve my family, to preempt what might happen in order to work hard and prevent it. My husband likes to only deal with things as we are faced with them because they might never happen.
You will rarely see him at an appointment for our children as he finds that side of their care hard but on the other hand he is building a swimming pool at home this summer because our daughter has outgrown the hot tub in the garden to do her exercises and this will be key to her being strong she grows. We are different and that’s okay.
#3 We may be some of the most knowledgeable parents you will meet
As parents we learn every day, since our children’s symptoms started, we read extensively about their conditions, we keep up to date with any developments and network with other parents. We spend the most time them and are most definitely the experts in their care. We often know as much about our child’s conditions as most doctors that we see, particularly at a local level. We have to have the overall picture and co-ordinate their care, especially when their are two conditions and one of them is multi systemic as we are seen by many teams.
I know this may be daunting for you sometimes, faced with with knowledgeable parents who may want do discuss the reasons behind your choices, we will ask you why? But please remember that sometimes we have waited months for an appointment with you, we want to get the most out of it as possible. Not just because of lengthy waiting times or because we haven’t got the time or energy to repeat the experience but because it is our or our families health at stake. We are aiming for the dream team looking after our family.
We try to educate professionals wherever we may encounter them. Think back to your training, In the case of CMT or EDS did you cover it? Perhaps one lecture, perhaps in an exam question but many professionals have never actually treated a patient affected by either of these conditions.
The medications that would of been prescribed for me that day were smack bang on the middle of that list with moderate risk. The doctor felt better equiped to help his patient and I left with a suitable, (probably more expensive) alternative and my infection finally cleared up. A win, win.
#4 More research needs to be done
More research needs to be done. This is true in both areas but more so where EDS/ hypermobility syndrome is concerned. The amazing professor Rodney Grahame (who gets a standing ovation whenever he speaks at conferences) spoke most recently to patients in October 2014, he said that,
In my experience he is spot on. The professionals don’t even agree on its name! This became evident on our recent visit to GOSH.
We are still waiting for the clinic letter from that day. I’m wonder how many factual inaccuracies it will have? They won’t be part of our families dream team.
Hopefully our experiences will not be repeated.
#5 We always seem to have to fight
I have naively been surprised at the fight I have had since having my children regarding their health, be it for understanding at school, or the correct provision to be in place, to be referred to doctors, for people to communicate with each other or for the correct adaptations to be supplied. Everything seems to take forever too. Any where this element could be made easier would have a huge impact on our family.
One area where this has been frustrating is in the local orthotics department. The therapists are fantastic. They know the children best and know what to put in place to help them but in reality once the paperwork moves beyond them and in to the hands of the bureaucrats things inevitably go wrong. In the case of insoles for my son the referral went missing, we then waited nine months to be seen at which point a different company was selected to make the insoles than the one suggested by the orthotist and when the insoles came back they were not what was expected. When they were redone they were still no good and flared plantar fasciitis that lasted weeks.
It is frustrating as parents and I’m guessing as frustrating for orthotics team. I understand that the NHS is a business but what we see is more time in clinics for extra appointments, insoles being made two or three times that are no good, valuable time spent chasing appointments plus unnecessary trips to the hospital. Surely this is more costly in the long run?
What has worked fantastically well for us is when services like OT, physio and orthotics have come together, working with each other and communicating effectively.
“We walked into our usual physio room to be met with a huge electronic carpet stretching the length of the gym. Our daughter took her first steps along the mat with bare feet, every step and touch tracked by the physiotherapists laptop. A video camera captured her gait. Together the physiotherapist, orthotist and I could analyse her walking in super slow motion, looking exactly where the weight was distributed as she took each step. Then the fun bit, we had lots of different shoes to try, Piedro boots, trainers, high tops, converse, kickers. With insoles, without, with braces. The results were amazing and unexpected, lots of shoes were just too heavy and when slowed down looked like a heavy weight dangling at the end of a piece of string, which ruled out all hospital boots and ankle foot orthotics (AFO’s). She had to have something light and completely flat.”
The physiotherapy and occupational therapy services have also supported me in school to raise awareness amongst staff for my daughter. It is frustrating as a parent that it takes their intervention for this to happen but we must take into account that Ehlers Danlos syndrome and Charcot Marie Tooth Disease are rare, they are not the common health conditions that schools deal with frequently like asthma or diabetes. With their support understanding has increased and a plan is in place.
When the services work well and are coordinated they have much better outcomes for children.
#6 As the conditions are genetic one parent will be affected
As both conditions are genetic at least one parent will be affected, usually painting on their smile at appointments pretending that the pain, fatigue and autonomic dysfunction as well as daily dislocations and subluxations just aren’t happening. There is often a far bigger picture than the child sat in front of you. One of my children’s therapists really did understand this, I am now her patient myself.
When dealing with children with genetic conditions it makes taking an accurate family history even more important. It may give you pointers to watch for in the future where the children are concerned. You may also learn about the interaction that two or more different different conditions can have on each other and their presentation over time. Living with these conditions ourselves we understand our children’s struggle to be ‘normal’ and we know that what they are experiencing is real. We are just striving for it to be different for them. We are realistic and know that their conditions will never go away be we also understand that with appropriate management they will hopefully not become their condition. They are just gorgeous, bright children who happen to know a little too much about posture, pacing, pain and the NHS.