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.
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#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.
[su_quote]”One Christmas after multiple urine infections had not cleared with antibiotics (another lovely part of EDS) I found myself in the waiting room of the out of hours GP service at Hillingdon Hospital. Quite frankly I was miserable and I wanted to get on top of things before another long bank holiday weekend. The doctor was lovely however I don’t think he quite believed the symptoms that I was describing as I was till smiling and having a joke. Then I presented my urine sample to him, crimson red and watched as his face change. He started to look for a medicine to prescribe, chatting about what had been tried already. I told him about my CMT and the sensitivities to some medications and proceeded to pull the list from my purse to show him. He sat up taller in his seat and got a little twitchy as he surveyed the lengthy list of drugs with negligible to significant risks. It turns out that he had a patient that had just been diagnosed with CMT1a and he didn’t have a clue about the list of medications. He took a copy for his records as well as a couple of well respected charity website addresses for information.”[/su_quote]
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,
[su_quote]”People with EDS are badly let down by the medical profession. Patients are not listened to, believed, diagnosed or correctly treated. I know of no other disease where this is so.” [/su_quote]
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.
[su_quote]”Our daughters problems are obviously related to her hypermobility. Since being being tiny baby laying in her crib her legs were always in a ‘w’ so much in fact that her legs were never in her babygrows but somewhere around her trunk. When she first pulled herself to a standing position using the furniture her feet looked like they were on backwards and she never bounced on your knee, not once. She has always battled the other symptoms of hypermobility, hypotonia, tiredness, injuries, fatigue, bruising, skin rashes, bladder and bowel problems. This coupled with her CMT diagnosis, led her to develop steely grit and determination, a beautiful illuminating smile and a bright sharp mind. However in the months that followed her starting full time school we noticed some of these qualities slip away. She didn’t try so hard, she was tired all the time, she wasn’t ‘just getting on with it’ so much any more. She was having more and more injuries, sprains, falls, bumps, bruises. She was grumpy too. If you had asked me a year ago if my beautiful daughter would be having daily meltdowns I would have called you a liar. She was not coping and couldn’t express herself. Life at home Monday to Friday after school is miserable and the boys are suffering too. So we decide that if we obtain a correct diagnosis to get her to the right doctors they may help. Don’t get me wrong our therapy team is fantastic but medical advice would have been helpful as the neuromuscular clinic were just putting all her problems down to her bendiness and we have worn a groove in the road over the last 6 months back and forth to our GP with her skin issues. We fight for a referral to GOSH rheumatology, the only place that really specialises in young children with hypermobility. We prepare as much as we can for the appointment. We wait, trying not to read about other people experiences. The day of the appointment, our hopes are high. When we are called we see a doctor and physiotherapist at the same time. This was hard work because, 1) it meant that one of us had to totally focus on Rubie working with the physiotherapist and 2) I could barely hear the questions being asked by the consultant with everyone working in the same small space. We quickly realised that this didn’t really matter. The doctor was disinterested. She was asking standard questions on a form, questions that I had answered in detail on the multiple sheets that we were asked to complete pre-visit. Before we had finished answering each time she began asking the next question. So it continued. She even sat picking at her nails at one point as I spoke. I wasn’t sure if my husband had noticed as he worked with our daughter and the physiotherapist in the corner, he had. They left to have their discussions and no sooner returned. The doctor spoke. I can’t say what she said, I know that she did not address any of our concerns she so neatly checked boxes with at the start of the consultation, not one. The physiotherapist was obviously embarrassed. She tried hard to explain, she tried to answer our questions. The bottom line, GOSH will not label children with an EDS hypermobility diagnosis at such a young age so instead they gave her the label of symptomatic hypermobility to go with the others she has been given when people have been scared to mutter EDS out loud, hypermobility syndrome, gross hyper mobility, all amounting to the same thing. At one point the doctor picked up her mobile phone and checked her texts. We left, thanking the physiotherapist for her time.”[/su_quote]
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.
[su_quote]”I had slept barely a wink, as I got into bed the night before I had a niggly pain in the side of my ankle. No matter how I lay, as I relaxed the pain became intense. I had taken pain medication, propped my foot up in the best way possible, (with CMT feet I was kind of fighting a loosing battle) and tried to close my eyes and rest. Only to be woken by a stabbing pain as my foot relaxed as I drifted off to sleep each time. Life goes on though. Next morning I had three children to get to school and on the way an early morning appointment for a brace fitting at the orthotics department of the local hospital for my daughter. Make up, check, meds, check, smile, check. Her fitting went well. We have got to know the orthotics team over the years, they are amazing, after she had finished with my daughter she turned and asked me how I was doing. So I asked if I could be cheeky and get her to have a look at my ankle quickly. She thought that it was completely subluxated. She helped me so much that morning in ways you wouldn’t believe, advice, braces, supports, over and above. Finally 5 days later my foot was relocated by physiotherapy, but without her help and advice those 5 days would have been a lot, lot longer.”[/su_quote]
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.
Signed, 🙂 I've been following Bethanie's story for a while, she is a similar age to my oldest son. Follow the journey on Facebook – Believe in Bethanie. https://www.facebook.com/BelieveInBethanie/?fref=ts
Just wanted to draw your attention to this petition to free a fellow zebra https://www.change.org/p/southampton-general-hospital-free-bethanie-rowlands I love your blog!!! Laura xxx