By Jessica Breeze
Sometimes in life, do you ever wonder – how did I get here? I mean at a particular moment, point in time. This is what I’m pondering as I open my laptop and start this blog, about my daughter being a carrier (or manifesting carrier) of Duchenne muscular dystrophy – how did I get here?
It all started with a mouth ulcer!
Our daughter Wren is a feisty 5-year-old. When she was around 2 and half we started to notice she had several mouth ulcers which would disappear and flare up – I didn’t think too much about it and I left it a few months until getting it checked out.
The path to diagnosis
We saw a pharmacist practioner that they now have in doctor’s surgeries for minor ailments. She wasn’t too concerned, Wren probably just needs some extra vitamins, but she would get the Doctor to check just in case.
The Doctor had a look and noticed Wren’s glands were raised as well, you know when doctors don’t say too much however you can just feel their concern. He advised a blood test which would need to be done at the children’s hospital, I was thinking this would be something to book in within the next few weeks, until he said, ‘no go today.’ Hmmmmm
A few days later a concerned doctor called me asking how Wren’s health was? – Good. Had she had an illnesses lately? No. Had she recently had any immunisations? No. Next thing you’re writing down CK levels, AST, ALT – thinking I haven’t a clue whilst the doctor is telling you what they should be.
The next day the hospital said they wanted to see her and to go to A&E – at this point I’m feeling an absolute fraud as Wren is literally bouncing off walls whilst really poorly children are wrapped in blankets snuggled into their parents’ laps.
A lovely paediatric consultant examined Wren, more bloods, happy she’s in no imminent danger he referred us to a few deptartments for follow up as an outpatient.
I think the concern only really started to kick in when we received letters from the Neurology dept & you go to your good old frenemy google. Also when you go to the initial appointment and you comment how lovely the new building is and you’re advised it looks after rare diseases. You’re asked endlessness questions about your pregnancy, labour, Wren’s milestones, family history.
Fast forward several horrible, anxious, lonely months of endless google searches, constantly checking the post and looking out for the ‘hospital envelope’ we finally had confirmation of Wren’s diagnosis.
Wren’s diagnosis
Wren’s genetic report states she is a Manifesting Carrier of Duchenne muscular dystrophy, however our consultant has advised us the genetics report alone cannot determine a manifesting carrier, this would only be confirmed through time and observations. Whilst having the diagnosis stopped the constant worry of what it might be, we are now in another limbo land of will she ever display symptoms, if she does will they be mild, severe? You swing between completely putting it to the back of your mind until she’s older and potentially wants a family to constantly assessing how she’s climbing up a slide comparing her to her peers.
We also find there’s very little information out there about carriers, our consultant advised she has carriers who run marathons and a few small cases where symptoms mirror the boys. Case studies are completely varied in terms of symptoms and I think there’s some confusion. My genetic counsellor told me Wren is a manifesting carrier due to her raised CK levels, and the consultant has advised this isn’t the case and ‘we don’t tend to worry much about the girls’
We often feel in no mans land, and you can eat yourself up thinking will she, won’t she. I just have to remind myself absolutely no one knows what the future holds in store for them and I know it sounds cliché however it really does make you focus on the here and now, enjoy the moment.
Wren started school in Sept and the teachers have identified some concerns with her learning. She’s been referred back to speech & language (she’s been on and off over the years) who have assessed and identified issues with levels of understanding and focus. It’s difficult to assess her current levels due to numerous school closures due to COVID however we are working with the school and are planning a meeting soon to discuss next steps now they’re back at school.
Wren is incredibly cheeky, head strong and very ,very feisty. I’ve seen her tell teenage boys to leave ‘her park’ she does get very frustrated easily which can result in lots of temper outbursts, we are trying to way up if this is just Wren or if this is linked to potential behaviour issues.
Latest update
So where are we now? I have been tested and I am not a carrier. In terms of Wren’s physical health she is monitored every 18 months in neurology clinic to be assessed (we can request early appointments if we even have concerns) she’s had her baseline heart scan and that will continue every 3 years. Physically everything seems well, she’s slightly ‘clunky’ when she runs, she does struggle with co-ordination on her scooter and she can be very cautious when climbing. We have a follow up with the school in terms of learning and then our next port of call is to decide how to share and explain all of this to Wren’s big sister.
Our oldest daughter, Lyla is 11 and we had planned to share Wren’s diagnosis with her and then COVID hit. Lyla can be sensitive and a worrier and COVID seems to have heightened her anxieties so we’ve decided to hold fire for a while until a glimpse of normal life resumes. At some point we will also have to tackle explaining things to Wren!
All the medical professionals are bemused as to why at her initial blood test were her CK levels tested in the first place – so it really has been a fluke find!
So what ever happened with those mouth ulcers? – well we still do not have an answer. She’s been referred to other depts who are keeping her under review and we have some medication to treat, however I have just picked up the courage to call the Dr again as they have recently become worse. Although her diagnosis has left me a bit anxious to pick the scab anymore – who know what we’ll uncover next!
