Week 5 – Duchenne and Me – Birth to diagnosis

Hello to all of my avid followers! 😀

Week 5 Training and Fundraising

Monday – Long Night Shift

Tuesday – 4.04 mile Fartlek Run

Wednesday – Long Day Shift, Bake Sale, Core Work

Thursday – Rest

Friday – Rest

Saturday – 10.0 Mile Long Run (shaving 11 minutes off my PB since I started running!)

Sunday – 4.56 mile Threshold Run

Weekly Mileage – 18.6 miles

Total Mileage 2013 – 74.15 miles

Weekly Sponsors – £225

Bake Sale – £12

Total Raised 2013 – £603!!!!

Well this week brings a change of tone to my blog, and instead of focusing on my running and technqiues used for training, I am instead focusing on my sole reason for embarking on this journey, my brother Graham.As you probably read in my introduction many weeks back ( my late brother was diagnosed in early childhood with Duchenne Muscular Dystrohpy (DMD). One of many dystrophies, this condition changes the life of around 100 young boys, and their families each year in the UK alone. At any one time in the UK there are known to be around 2500 males in the UK living with the condition. I could go on forever about DMD, so I have decided to break it into managable chunks, to save time, and quite frankly, a lot of emotion.

So lets start from the very beginning.

Graham was born on the 12th October 1992 at around 0645am weighing in at 8lb 15.5oz. I was 9 years old, and remember vividly, mum going into hospital ‘to have the baby because he/she was late’ (what I now know is an Induction of Labour). I couldn’t stop thinking about her and whether or not I would have a baby brother or sister (really wanted a brother, guess the praying paid off!). She seemed to be pregnant forever, and seemed enormous (she still maintains that she was enormous), I loved feeling him move inside her tummy. But I did get impatient. I remember my teacher, Miss Campbell, asking me every day for what seemed like weeks if my mum had had the baby. I got so fed up with answering ‘no, not yet’ that one day I said ‘YES! She has had a girl’ (thinking that only a horrible sister could keep me waiting this long!). Lets just say that lie backfired somewhat.

Anyway, my mum didn’t quite make it to her induction, as while she was waiting on the ward to ‘be started off’, her waters broke and Graham was born not too long after.

I was so excited when I learnt of my mum having a baby boy! I had finally got the brother I had dreamt of for so long. Things were great, he was like any other baby. He cried, pooed, was sick, slept, and grew really fast.

Graham just a couple of weeks old (and me looking incredibly like my daughter!)
Graham just a couple of weeks old (and me looking incredibly like my daughter!)
Graham at around 8 weeks old

I loved looking after my baby brother. I was excited to share my experience with my friends (most of them didn’t have baby borthers/sisters, I felt very lucky). I enjoyed giving him his bottles, making him smile and laugh, and dangling things in front of his face (like you do!). He really was just like any other baby. He hit all of his milestones and caused no concerns for either my family, or any healthcare professionals.

Graham and I at around 6 months
Graham in his walker at around 10 months (he could get EVERYWHERE in this!)

In hindsight, I guess you could say he was a little late walking, in comparison with myself and my older brother. We both walked at a year, by which point Graham was only just pulling up on furniture. He didn’t walk until 16 months (which my daughters didn’t either, so not necessarily an early sign of DMD) but still, this caused no concerns.

Early signs of DMD include difficulty in running, jumping, hopping, enlarged calf muscles, and delayed speech development. Graham never ran like other children his age, he always ran with difficulty, shuffling his feet along as he tried to do so. He never hopped nor jumped, and did eventually developed the characteristic big calves. his speech was delayed and he did eventually have speech and language assistance, and gromits in his ears which helped enormously with this. I always remember him calling my ‘Sesah’ instead of Sarah (can still hear him calling me now).

Graham at around 18 months (noticing now I have my own children how when he sits he almost isn’t suppoting himself very well)

Still, life went by pretty uncomplicated. Just after Grahams third birthday he was admitted into St Mary’s peadiactric ward, Portsmouth, with pnuemonia, from which he never really recovered. I still remember mum giving him some sort of tonic medicine to help him recover (not sure how much good it actually did) but from then on symptoms became markedly noticable. Fitting the DMD bill well by this point already.

The month before diagnosis, mum noticed how Graham would tire more easily. He would want to be carried after a short time of walking, have difficulty getting up after falling over (the falling became more frequent too), and stairs suddenly became more of a challenge for him. His playschool leader also noticed these symptoms, and she eventually took him to our family GP for the once over.

After an examination in the GP surgery mum was informed that she would need to take Graham to a hospital appointment with Dr Wozniak at St Marys. She was told that the appointment would take around 3-4 weeks, but she was sent an appointment within the week. Mum still feels that the GP already knew, but obviously coudn’t say anything to her.

Diagnosis in most boys takes place after classic symptoms are noticed by family, health professionals and education professionals. Diagnosis is usually then made by genetic testing, most commonly from a blood sample, which would instanly show up the deletion on the X chromosome responsible for DMD. Muscle biopsies can be taken to distinguish between DMD and Becker MD (a lesser form of DMD), but Graham never had this.

I’ve been speaking to my mum about Grahams diagnosis and this is how she remembers his diagnosis –

‘It was March and Graham was 3 and 1/2 years old. I remember really well the big waiting room in the peadiatric department, and Dr Wozniak’s office was right down the end of the corridor. He came out to the waiting room to call Graham in, walked back to his office, and watched carefully how Graham was walking, really carefully (he probably could already tell what the problem was). After an assessment I had to take Graham for a blood test and I was told to come back in a week. At that next appointment we were told his diagnosis of DMD (devastating), and given some contact numbers if we needed more support. I still remember a wonderful woman, Audrey Begent, a Family Care Officer for boys with DMD, and she answered all of our questions, she was a life saver.’

All I can remember from diagnosis is my mum sitting me down after school to tell me of what had happened. I don’t remember him having any doctors appointments. I still remember mum, crying, telling me that Graham was ‘very poorly’ and wasn’t going to get any better. He would eventually ‘be like superman (Christopher Reeve)’ and be in a wheelchair pretty much unable to move. But he would be ok ‘mentally’ and be like any other child his age (felt like some sort of consolation I guess). I did cry at this moment initially, but think it was more because my mum was crying, at 12 years old it was all a bit too much to understand and take in. I was told we might be lucky to have him survive until 16 years. I remember going to school and telling a few friends, but not really getting too upset. I would have been almost 13, so maybe I didn’t really understand the gravity of it all. We had also been told that research had moved on dramatically in recent years and if in the next ten years there was no cure, the doctors would be very suprised. So maybe in my head I thought that this was all going to go away within ten years and didn’t really matter. I’m not sure. I’m not even really sure when it did hit me to be honest. All I can say is that it did, and it hurt like hell (and still does).

In all honesty, I can’t really say I remember him changing too much in the rest of that year. We went on holiday as usual, and he still carried on going to playschool and being the happy little boy he always was. I really enjoyed being a bit older when Graham was young, as I remember spending time with him so well, and enjoyed playing an active role in his care and being a proper big sister to him. Without those memories my journey could have been so much different.




Enjoying summer holidays with my beautiful baby brother, shortly after diagnosis.


3 thoughts on “Week 5 – Duchenne and Me – Birth to diagnosis

  1. Sarah, this is a beautiful piece of writing & extremely moving, the fact that you have managed to do all you have even with the experiences you’ve had is testament to your strength, love & generosity that knows no bounds. You were an incredible sister to Graham & continue to be so and a wonderfully devoted daughter to your Mum, who you are always there for no matter how tired you are or whatever you have going on in your life. You are a very special person that I am so lucky to have been blessed to have met and call my wife. There are parts of this entry that I didn’t fully appreciate – you have been so strong about everything that I always (wrongly) assume you are OK. You are an inspiration to me and those who have the pleasure of knowing you, if i could be half the person you are then I’d be over the moon. Great running this week, you are doing so well! I love you xxxxx


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