PERSONAL STORY OF MUSCLE GSD
WHEELCHAIR TO WALKING
Lucy’s mother Jodie told her story to everyone attending the McArdle’s Workshop at the AGSD-UK conference in October 2017. From diagnosis and her wheelchair to walking in Wales and riding her bike.
I always suspected that something was not quite right where Lucy was concerned. She didn't walk till she was 16 months old, and even then it seemed like she was uncomfortable. She never slept well and seemed to be permanently screaming.
The doctor said she had a loose hip and this is probably the reason for the delay. She had physiotherapy for a while and things started to settle down. Although during these appointments she seemed to be in pain, especially during the exercises.
Struggling to run with other children
It was probably at the age of 3 and the start of nursery that I noticed more little things, such as Lucy always struggling to run with the other children. Most times it resulted in tantrums because she couldn't keep up. Also, she was constantly complaining of aching legs and arms.
I spoke to the doctors several times especially as she started to get tummy aches and back aches. On several occasions they put it down to urinary infections and growing pains. My daughter also had her tonsils and adenoids out at this age and she didn't cope with the anaesthetic well.
I repeatedly went to the doctors about her complaining of leg pain. Eventually they referred me back to her physiotherapist, Claire Parker. Lucy was fitted with an instep for her shoes but they were puzzled as Lucy’s bones seemed to be developing normally.
Problems when starting primary school
Not long after this Lucy started primary school and she was automatically put down as a lazy child. Very unwilling and having constant tantrums when she didn't want to take part in things. The biggest issue was PE and school trips.
She completely refused to take part in sports day and sat crying on the floor the entire time. Her teacher at the time said that she just complained her legs were hurting whenever she didn't want to do anymore, and put it down to starting primary school so young and attention seeking.
Shortly after this her night episodes started. Lucy would wake up screaming, with severe leg cramps to the point where she found it difficult to stand. I found this really distressing and advised her physiotherapist and the GP that this was happening. I don't think they really believed me, and said that it could be growing pains or she may be having night terrors.
Video recording night time episodes
I was getting really frustrated at this point. As she continued with school the night time pains got worse. However, I did find during the school holidays they calmed down. I actually decided to video a couple of these episodes, because I was sick to death of repeating myself and being made to feel like I was being far too over-protective.
I showed these videos of Lucy in genuine pain to Lucy’s physiotherapist. All of a sudden it was like a switch flipped, they wanted to find out what was causing such bizarre reactions. She asked a consultant to take a look at Lucy and she ordered some routine bloods just to make sure that there was nothing underlying, such as a vitamin deficiency.
I had a letter saying they thought the bloods had become contaminated, as the CK (Creatine Kinase) level was just over 3000 (about 15 times the top of the range). They needed Lucy to retake them.
Scroll through the photos of Lucy’s journey.
It was following the second CK test that I was immediately called to the Gem Centre. They thought Lucy could have a severe muscular condition, such as Muscular Dystrophy. We were referred to a specialist at Heartlands Hospital in Birmingham and DNA tests were ordered.
We went to see Dr Roper at Heartlands and she was pretty sure that Lucy had a form of Muscular Dystrophy. She asked me to give permission for Lucy to have a muscle biopsy under different anaesthetic conditions, just in case she did have a muscle condition. This was devastating for my husband and me, as we knew that whatever the result, it was not going to be good.
We get the McArdle disease diagnosis
We received the results in November 2014. Dr Roper said that Lucy was a very special girl and has McArdle Disease (GSD Type 5). She said she didn’t know much about the disease and gave me some basic information printed from a website called AGSD-UK, and a referral to Great Ormond Street Hospital in London. I felt like my whole world was falling apart.
They did say though that the night episodes that she has are still strange as McArdle’s shouldn't cause problems from being inactive but they hadn’t got anyone to compare with. They told us that there were less than 5 children in the UK, and less than 500 people worldwide, officially diagnosed.
The whole thing frightened me to death, especially as I had a lot of other awful things happening in my life. I was an absolute wreck, so this diagnosis damn near broke me.
The best thing they did though was give me the information sheet and I immediately emailed AGSD-UK asking for help as I was terrified. Andrew Wakelin, our Fairy Godfather, asked if he could call us even though it was late at night. He explained that the condition was not curable at present but with the correct guidance it could be managed. I literally cried my eyes up on the phone, but he never got flustered and literally proceeded to reassure me and put me at ease. He went into great detail about the condition and about the things he could do personally with McArdle Disease.
Information and a role model
Andrew sent me a load of information in the post. He also gave me the email address for Dan Chambers’ mom Terri in America. She is the McArdle-ite supermom and the following photo is what changed everything for our entire family. Lucy had a strong role model and wanted to be just like super Dan.
Incredibly Lucy took everything in her stride, but I was constantly fearful of her pushing herself too hard. She was issued with a very pink wheelchair, which was a godsend as it meant Lucy was no longer fearful of going out anywhere that would require a lot of walking, i.e. the Zoo, shopping, the park. Lucy couldn’t seem to walk for very long at all without her legs hurting. Occasionally she would get into what we now know as “second wind”, and she would surprise us and walk approximately half a mile to a mile without the dreaded “Up, up, up, Mommy”.
After Lucy had her diagnosis letter sent to the school, she knew that she could have a rest during PE and take her chair for long trips. She settled so much better and her school work improved massively. I regularly ran the risk of wrapping her in a bubble, as I preferred her to be as inactive as possible to minimise any of the scary risks I had heard about. I now know that this was wrong.
Lucy’s first McArdle-ite event
Lucy attended a McArdle-ite event in 2015 and finally met her idol, Dan Chambers. I got to meet our Fairy Godfather, Andrew Wakelin, and I was so emotional by the end of the trip. Lucy found heaps of confidence and they advised her several tips about exercising her muscles, how to practice the “second wind” technique and much, much more.
Lucy managed to climb a steep hill by herself, with encouragement, for the first time and I was in bits. The photo below shows Lucy attempting to give up half way up the hill and Dan literally sat in the middle of the foot path with her until she was ready and confident to try again.
Also a big factor was eating the right foods. At the McArdle event there was a rainbow of foods on the table at lunchtimes, and this was Lucy’s first look into finding a way to manage her life. For a five year old this was a huge turning point.
Referral to a paediatric dietician
I spoke to Dr Quinlivan’s (Great Ormond Street) dietician about getting advice on her food portions. She said she dealt with mainly adults and to ask her consultant for a referral to a paediatric dietician local to us to get some general food advice for a healthy diet.
We met Nishti Ismail at New Cross and Lucy took an instant like to her manner. She was confident, bubbly and excited about helping to manage Lucy’s condition, and pleased to help the family introduce healthy eating as a whole. Nishti went away and did a lot of research about McArdle’s and we started off very basic, i.e. food substitutes. We agreed that ketosis wasn’t suitable for Lucy at that point, but agreed that a much lower carb, healthy, diet would be far better. Lucy loved Nishti’s methods and loved trialling cooking things from fresh rather than buying everything ready made from the freezer section at the supermarket.
Granted we had a few disasters, but we found these delightful family bonding activities. Lucy developed a love for fruit and veg and after a couple of weeks we noticed huge differences. Lucy was more confident, happier, asking to walk and just using the wheelchair as a rest seat rather than a permanent addition.
Nishti then progressed the healthy eating with our favourite tool – our hands. This was so easy to follow and everything turned from grams and cups to a handful. For a working mom, it’s a very quick approach and perfect for those busy school mornings. Lucy has charts on the wall to allow easy measuring of her dinners and she is happy to tell people that she doesn’t need to eat everything on her plate as “Nishti says” once she has done her 123 handfuls she has had plenty. Lucy started to slowly lose weight and is participating much better at school.
Exercise and diet management
Since combining the exercise management techniques, and our family 123 healthy eating, our lives have changed dramatically. I am no longer fearful of leaving the house with Lucy, and don’t need to justify Lucy having tantrums because she can’t walk very far. We no longer have to watch our daughter break down in pain and frustration - unfortunately that had become a regular occurrence.
As a family we no longer have processed foods as the norm and enjoy experimenting. Visiting farms and selecting new fruits and vegetables is now a wonderful family outing rather than a chore. My son (not a McArdle-ite) is much calmer and after two years of sleepless nights is now sleeping through. Lucy went from having 2-3 muscular episodes a week during the nights, to only one episode every three weeks.
Now so few episodes
After 6 months of this approach Lucy may have a muscular episode night or day approximately once every three months plus. Her wheelchair is now used for drying socks and is normally an afterthought. Lucy no longer has extreme tummy aches and is not overwhelmed by fatigue. She is learning that everything she is doing in her life now is just normal and I refuse to allow anyone to change that. We wouldn’t be where we are today without the team she currently has behind her, I just wish all McArdle-ite families had the same.
Granted Lucy is going to have her challenges in life, but I know that she can overcome them. She is fortunate to have been diagnosed so early, and the McArdle-ite family is stronger than ever.
To parents of young McArdle-ites
The reason for me telling you our story is – don’t give up, don’t believe that your child will never be well, and don’t think that your child will never be happy.
Without guidance from other McArdle-ites and their moms Lucy would not be where she is today. We are all here to support one another and we need to train our young McArdle-ites to become the best role models for others in the future.