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 McArdleite 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 McArdleite event

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Lucy attended a McArdleite 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

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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 McArdleite) 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

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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 McArdleite 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 McArdleite family is stronger than ever.