Jo Bardoe is the mother of seven year old Mia who has Type 3 Gaucher disease.
Mia was diagnosed in December 2000 just after her 1st birthday. The first thing we picked up was her eye movements and frequent choking, she had quite classic neurological symptoms. Although she no longer has choking problems, she has no horizontal saccades, so she can’t make horizontal movements with her eyes. She is ataxic, has impaired gross and fine motor skills and auditory processing issues. It took us a long time to get over the shock. She’s been having Cerezyme now for six years and has just completed three years on the Zavesca trial, which unfortunately did not work.
Mia is just seven years old and attends our local village primary school. She has a full statement of educational needs because she has poor balance, problems walking, and gripping and controlling a pencil which affects her writing and drawing. She needs more time to understand instructions and new concepts especially in mathematics. She also has issues with spatial awareness.
Mia requires specialist equipment at school including a sloping desk to help steady her hand as she has a tremor, and a saddle seat to aid her posture as she appears to have developed a postural kyphosis (curvature of the spine). Her learning support assistant sits beside Mia, reinforcing instructions in her maths lesson and assisting her in P.E. She is very well cared for in her school and it is imperative that she has 1 to 1 support in terms of safety and understanding the curriculum.
Mia had been attending youth theatre workshops for six weeks and was going to be in a production of ‘Aladdin.’ I was extremely anxious about this. I’d explained her situation to staff running the workshops and they were very kind but she didn’t have the one-to-one help she had at school, although there was a chaperone who reassured she would help Mia out when required.
Mia had said that she enjoyed the workshops but was not happy about going on stage. It had been a tremendous feat for Mia just to attend the workshops. So we made a deal – I told her she could get someone to call me on performance day and I’d pick her up during rehearsals if she didn’t feel she could do the show.
On the day of the performance, I had not received a call so our assumption was that Mia was up for it and decided to perform. I felt really nervous as I looked out at the huge imposing stage. The performance began: it was big, tuneful, colourful and professional. Mia was one of the jewels in the show. I imagined her standing in the wings anticipating her entrance onto the stage before an audience of 250 or so people and I thought back to June when she had had to endure 5 days in hospital – a result of a horrible virus. At the time, she had been running a very high temperature, unable to speak, eat or walk, making the most frightening noises as she struggled to breathe. Doctors and nurses battled to get her body temperature to anything near normal. I remembered then being amazed the way she recovered five days after she was discharged as she joined a school walk, completing approximately two miles of the hike along the South Downs where we live. Her courage and determination are one of her many admirable qualities.
All of a sudden the jewels came on stage, my stomach lurched and I let out an audible gasp, there she was following her fellow jewels as they skipped onto the stage. Mia of course wasn’t able to skip but she managed to launch one foot in front of the other at speed. Right foot, left foot, right again – I saw space between foot and floor. God she was running ……alone, no adult beside her– could she keep it up, would she trip and fall? I could hardly breathe. She was the youngest and by far the tiniest in the show. Her body more rigid than the other 20 jewels, movements less smooth, jerky and arms and legs stiff. I wondered if anyone else would notice? Then she missed a clockwise 360 rotation. Would it throw her? Recovery, composure and a side step to the right. Her friend Georgia, kind, thoughtful and accepting, extending her hand in order to guide Mia swiftly across the stage. It was quicker than I’d expected. I wondered what I had subjected her too. I had not witnessed her achieve anything at this level before and I questioned whether she was up to it? Had I become one of those pushy over ambitious mothers, desperate to witness her daughter on stage at any cost?
I squeezed my interlocked hands even tighter in my lap as I watched her manoeuvre herself around the stage. She was guided across stage again by Georgia who helped her friend they disappeared into the safety of the wings.
She’s done it, survived, better than that, this was a truly exceptional achievement for Mia. I reached up and wiped the tears from my face. My husband and I were overcome with a pride and admiration we’d not experienced before.
I have learnt an awful lot about myself since Mia was born and diagnosed. I had not realized how stubborn, determined and sometimes obsessive I could be. I am always on the lookout for new therapies, anything that could help in any way possible. I never discounted alternative complimentary medicines or therapies and I believe they have their place. She’d seen a cranial sacral healer for a while, cranial osteopaths, visited a herbalist and a kinesiologist (movement therapist). As a parent you will try anything to improve a situation one is so helpless to change.
