So many things to think about...newly diagnosed with Duchenne
When your child is first diagnosed with Duchenne, you are launched, headfirst into an unknown world. A world where long words and abbreviations are the norm, there are scary 'life-line' videos of beautiful little chaps proudly getting up off the floor, using Gower's Maneouver, which are almost un-watchable for a newly diagnosed parent.
There are appointments, specialists, wheelchairs, night-splints, ill-fitting trousers, schools... the list goes on.
Here's a little (or not so little!) list of some of the top things we have done to help our journey or learned along the way;
Advocate at education setting – at the very beginning of every new school year (or if there is a change of staff in Samson’s class) I arrange to have a meeting with the teacher and TA. I talk to them about Samson’s nuances, little things and bigger things. Today I spoke to his lovely year 2 teacher (and the INCO) and we discussed all the bits below. I find it really important that his teachers hear first hand about Samson and that they don’t just read a form with his details. They can then know WHY it is important to do certain things, for example, I always tell them WHY doing his physio at school is so important (ie to keep him on his feet longer, leading to longer active, longer healthier etc). This WHY has spurred his school to do physio twice per day, which is amazing and we are so lucky, but just show the power of talking!
Clothing – Samson has broken the mould in our family and is incredibly slim and a little petite (this can be a side effect of the corticosteroids..) which means he is still in 3-4 age trousers at the age of 6. Some youngsters with Duchenne have wider calves (due to the negative feedback process of the muscles in the legs), so parents often struggle getting trousers to fit, especially smart trousers. This is normal and common in youngsters with Duchenne. I think some people recommend ASDA for wider leg fit. For us, we just stick to trousers with the adjustable waists and rely on Nana for sewing up the trouser legs, or letting them down!!
Coca-cola wee – this is something to look out for and if it happens, seek advice from your Consultant. People say it is due to over-activity and if Samson ever had this, we’d give him some rest and lots of water. Touch wood he hasn’t had it yet as he’s pretty good at self-regulating, but if it did, that’s what we’d do.
Learning – I once read that kids with Duchenne can be up to 2 years delayed in their learning at school. And also, due to Dystrophin affecting the brain, Autism is more common in kids with Duchenne than the ‘normal’ population (I hate the word ‘normal’, are any of us ‘normal’ and I sure as hell don’t want to be… anyway that’s a different conversation in itself..). We’ve found that Samson is a little bit behind his peers but tries really hard. I feel its important to stress this to school as they may not appreciate how hard Samson will be working everyday just to sit up all day, let alone write, read, run around etc! I’ve read that kids with Duchenne struggle with phonics, and are better at flashcards. We find Samson has a stunning long term memory and remembers stuff from when he was pre-3, which I understand is amazing and ‘not possible’. But there we go, he remembers it! With the writing side, we’ll keep encouraging Samson to write as long as he wants to. The moment he starts losing confidence, we’ll swap to a computer. And in reality, by the time our kids are working or older, they’ll all be using eye-gaze tech anyway! Regarding homework, we take a very relaxed view on it. I feel that the kids work so hard all day that we never push them at home. I wrote to the school asking for any problems to come via me and that if the kids do homelearning that is great, if they don’t, its because we’ve been out all weekend playing! They were fine with it and any complaints come to me, not to the kids.
In emergency – always seek help via 999 or 111. I would always refer any questions to my Consultant, Physio, NeuroMuscular Co-ordinator or OT as each person with Duchenne is so unique, what works for one, may not work for Samson. With this in mind, I avoid seeking help in online forums and will always go to my professionals rather than the online community. There is the A&E pack that you can download which I give to school and keep in our car to help deal with emergencies (what to do/not to do/administer etc).
Housing – this is a tricky one for us right now. We live in a house which, in reality is not going to be able to be converted for Samson. I’m burying my head in the sand on this one as its such an enormous task to even think about it, and we certainly will be unable to afford what we really need for the long term… so… come back to me in 2 years when Samson is too heavy to be carried up stairs and we’ll talk about it then!
Bedtime boots – so, night splints were our first big step into the world of Duchenne and the extra things needed to make life better for Samson in the long term. We have fixed boots, and are currently trialling a style which are adjustable. Samson hates both, and are a reminder to us everyday of Duchenne. But we know how important they are to keep his ankles at a good angle, to keep him on his feet for longer etc. We use long black socks underneath them in the winter and just bare legs in the summer. Before we put them on we do a really thorough massage on his calves, then the stretches prescribed by the physio. The massages are lovely and although the physio doesn’t prescribe them, I think it has helped his calves and they haven’t grown or changed shape in the 3 years since diagnosis.
Sleep – I read once that kids with Duchenne process adrenaline differently to ‘normal’ kids and that it can take up to 2 hours longer to settle them. Sams used to not settle til 10pm (even after a sensible relaxing routine starting at 5pm, no TV, screens, caffeine or hyper activity after 6pm). It was crazy, Lex and I had no evening at all and my work was slipping as I simply couldn’t catch up with the day’s work at night as he was up so late. A fellow Duchenne mum kindly suggested Melatonin, the sleep hormone. I asked my Consultant and literally that night he was asleep at 7.30pm, half an hour after he had the Circadin (Melatonin). It was a complete game changer, his behaviour was better, he was less tired, WE HAD OUR EVENINGS BACK! It was amazing, and continues to be amazing. We were told that kids who are prone to fits can’t take it, but other than that it is just a hormone, so no negative side effects.
Behaviour – Samson is generally lovely, kind, funny etc. He sometimes is a bit clingy or reticent to try new things without support, but, with his muscles in mind, its no surprise. He likes to have a hand there to grab if he needs it and is great at asking for help when he requires it. We see a slight change in his temperament when he is on his steroids (10 days at the beginning of the month) but it is usually just a bit of heightened frustration, nothing major.
Wheels –this was a biggie for us and still is. The first wheelchair appointment felt devastating. Both of us were upset and it was a real reminder of the 'difference' we would experience as a family. However, wheelchairs are purely a fantastic way for Samson to get around more easily. They are a practical extension of his legs when they are a bit too tired, or he's conserving his energy for later (ie wheels to the park, get out and run around when he gets there etc). We started off using a buggy-style wheelchair. This was a good bridge between a baby buggy and a full blown wheelchair. He got used to it very quickly and we had a laugh pushing his friends and brother around in it, tilting it back and generally made it a fun experience. One of the older boys at school has become his Wheels Buddy, and is in charge of helping him on trips out of school etc. This works so well and its a system Samson loves. The bigger wheels meant we needed to invest in a bigger car, so ended up delving into the Bank of Mum and Dad to buy our van. But it means we can easily get the wheels out without struggling. I think, as time goes on, wheels just become part of life. Not something to be scared of or worried about. Samson has recently started to want to 'propel' himself, so I've asked for an 'upgrade' from Wheelchair Services. Unfortunately, the pathway is quite long so we're still waiting (despite a couple of chases from me) for that appointment. But when we get it, I've requested an Active Junior, which looks fantastic. One of our friends has this exact wheels and they love it, so we're going to give it a go! Sams is so excited to have a better set of wheels, that he can push himself around in and Leo's already baggsied first push!
Other mobility aids - we use a balance bike with a seat which Lex adapted (basically used a softer seat with a longer post). This is great for Samson's ankles as it encourages a good stretch. We send it to school so he has the option of using it at break and lunch time to keep up with his friends. We also take it out on trips at the weekend and evenings, and he uses it all the time. When we go to zoos and things, we take his wheels with us too, but bring along the balance bike and if there are restrictions on what wheeled devices you can bring in, I always say, 'its a mobility aid to help him get around' and I've never been denied bringing it in.
DLA, Blue Badge and working/child tax credits - we were advised to apply for DLA as soon as Samson received his diagnosis paperwork. We also advised the tax credits system that he was registered with a 'disability'. Recently we have received a Blue Badge which has been an absolute life-saver. I didn't realise how much difference it would make to our lives before we had it!
Siblings – check out my other post about how we've gone about dealing with Duchenne with the other kids.
Specialists – There are a myriad of specialists who you will involve in your 'Team'. Ours is amazing and I know that we are very lucky with our team, but we also work hard to build relationships with each of them. The OT (Occupational Therapist) helped us get a special seat for Samson to sit comfortably at the dinner table at home, also one for school, also helped source a smaller, low chair for playing upstairs at the play table. We will also seek their advice on housing adaptations/moving etc when the time comes. The first professional we came into contact was the NeuroMuscular Co-ordinator who was there in the diagnosis meeting, when we received the news that Samson's CK levels were elevated, and indicated Muscular Dystrophy. The NMC is like the lynch-pin of the whole operation, is the person we go to (and cc into) for everything pretty much. Then there is the Physio (Physiotherapist) who deals with things like the stretches, come into school and teach the TAs how to administer Samson's school physio, do his review (including the North Star assessment) and other aspects to do with physical wellbeing. We take Samson to see his Neuromuscular Consultant at Addenbrookes (our Neuromuscular Centre) once every 6 months. This is the chance to talk about any changes needed, how Samson is getting on, and raise any concerns we have about anything to do with his care. We also had dealings with a Specialist Teacher before and during Samson's first year at school. My understanding of this role was to help his transition into school, to make sure he had everything he needed. The INCO (SENCO) at the school plays an important role in being the main contact at school who deals with writing EHCP forms, co-ordinating the school provision and also helps us with any concerns with Leo also. We also attend the Children's Physio department who measured Samson and fitted his bedtime boots.
EHCP - we are just embarking on our journey into the EHCP... I started to take a look at the Cambridgeshire form (each county seems to be different!!) before the summer holidays, with an aim to get it done in the 6 weeks. But I failed miserably! I have since started working with the INCO at school and apparently it is more effective if completed by the school, with input from the parents and other parties. We're working through it and its not actually as bad as I thought. Each EHCP is different so seeking advice from the professionals is crucial.
Steroids - there are lots of different opinions on Steroids, but we found it really important to discuss the different opinions with Samson's Neuromuscular Consultant. We decided to follow our Consultant's advice to start Samson on a dose of Prednisolone 10 days at the beginning of each month and to increase the dosage as he grows in weight. This has really worked for us so far. He is strong, active, has not put on any excessive weight and is doing well. Long may it continue.
Seeking help/support - Over the past 3 years I have gained the most support from Lex, other Duchenne mums, my friends and parents, with an over-arching support network created by my superb friends and colleagues at our chosen charity, Action Duchenne.
So this list is not exhaustive (and I may add to it over time) but I hope other newly diagnosed parents can read this and know that you are not alone in the whirlwind of craziness getting your head around all these new things you never even thought you would ever need to know. And please be reassured, over time, this will all become second nature and part of your life that you have a better handle on.
Read another article for more in-depth into how it feels when it all gets too much 'Emotional toil, stress and appointments, appointments, appointments'.
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Bedtime boots - massage