Jo Bardoe is the mother of six year old Mia who has Type 3 Gaucher disease, Jo’s presentation describes Mia’s determination and gives a taste of what it is like for the family living with Gauchers disease.
‘Mia was diagnosed in December 2000 just after her 1st birthday. She choked frequently from the age of nine months but the first thing we picked up was her eye movements. She has 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 and of course as a parent you’re always coming to terms with the impact Gaucher disease has on your child. She’s been having Cerezyme now for six years and has just completed three years on the Zavesca trial, which sadly did not work.
Mia is just 7yrs old and attends our local village primary school. She has a full statement of educational needs. This is because she has poor balance, problems walking, 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 also 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.
The Indian National Anthem
I would like to share with you a recent event which happens to be an extremely proud moment for Christian and I. Three days prior ago we were at Great Ormond Street Hospital attending a clinic appointment. This was a special day in itself. It would be the last time we sat in Dr Vellodi’s clinic discussing “the trial”. Zavesca had failed to provide us and the other families with the positive results we so desperately yearned. The trial had been an extremely stressful experience for Mia and us as a family especially in the early days. We were under no illusions that Zavesca would be the answers to Mia’s problems and we could only pray for a positive result. We have always known Mia is severely affected. There would have to be an alternative or something to complement Cerezyme.
It was also, sadly the last time we would be privileged with Elin’s company. She’d been a great support to us all. Kind, caring, supportive and professional. Only Elin I’m sure with her gentle, unthreatening and persuasive manner could cajole Dr Vellodi into a one off performance of the Indian national anthem that afternoon. He sung it so beautifully in Bengali . All for Mia’s benefit, as a thank you for taking part in the trial. For those of you who may seem perplexed singing the national anthem was a method we used to persuade Mia to take her tablet in the early days! I can assure you that not only is Dr Vellodi an exceptional doctor he has the voice of an angel. It had been a long day and as usual Mia had taken it in her stride. “Tell Elin and Dr Vellodi what’s happening on Sunday”, Christian asked encouragingly. “I’m going to be in Aladdin” she whispered shyly.
She’d been attending Petersfield Youth Theatre work shops for six weeks . I’d been dropping Mia and her friend Georgia off on a Thursday afternoon. I’m not sure if it was more of an achievement for me. I was extremely anxious about leaving her. I’d explained her situation to staff running the work shops and they were very positive but it wasn’t school and therefore unfamiliar ground. She didn’t have the one to one help she had at school although there was a chaperone assigned to the youngest group and I was reassured she would help Mia out when required.
There were to be to two performances of Aladdin that Sunday at Petersfield Festival Hall. She’d also just completed 2 consecutive performances of ’Holy Joe’ the Christmas school play so it had been pretty full on. Mia had said that she enjoyed the work shops but was not happy about going on stage. It had been a feat for Mia just attending 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 – hardly ideal but they’d make an exception as she is special.
It was 5 o’clock on 10 December, the day before Mia’s 7th Birthday. Christian, myself, Skye (Mia younger sister) and one of her little friends took our seats in the rear stalls.‘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, colorful and professional. Mia had told me she was to be 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. This had been as a result of some dreadful virus which pretty much knocked her out. 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 the school sponsored 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 Going Well
30 minutes into the show ….Enter the jewels….. my stomach lurched and I let out an audible gasp.…..there she was following her fellow jewels as they skipped onto the stage. Skip?!! 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. She looked like a petite fragile china doll, vulnerable, fine featured and beautiful. Shiny in her all black sequin coated tunic and tights. Her black and gold hat accentuated her little head thrusts as she glanced left and then right to check her position on the stage.
I could see every movement she made as a girl twice her height took her hands and they made an arch between them. They released their hands and Mia followed the carefully choreographed moves to the best of her physical ability. Turning and twisting, shuffling her feet trying to keep in time with the music. 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 paceier 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 find her place in the newly formed circle, maneuvering herself into a kneeling position hands in a prayer pose, head bent forward. Then hands at her side body swaying from left to right. She had to get up from here in time with the other jewels– tricky, how would she cope?
Before I had time to work out the logistics for her they were up and off to the other side of the stage. She must be tiring, how were her legs bearing up? She could stumble at anytime, and there was a lot to remember. She was then guided across stage again by Georgia who compromised her natural pace in order to accommodate her friend they disappeared into the safety of the wings.
At last I could exhale and relax ridding myself of my neurosis just for a few minutes before the little jewels appeared for the finale with the rest of the ensemble. I watched Mia lift her head up beautiful face illuminated by the lights a small bow and little head thrust to the left. A gesture with her hand to the orchestra, applause and curtain.
A Proud Moment
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. As I glanced at Christian, I realised he had clearly struggled more than I had during this impressive performance. Like me overcome with a pride and admiration we'd not experienced before.
Being a Parent
I have learnt an awful lot about myself since Mia was a) born and b) diagnosed. I had not realized how stubborn, determined and sometimes obsessive I could be, I’ve pitied my poor family at times. I am always on the look out for new therapies any thing 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.
The UK Gauchers Association are delighted to announce that the fund has now been expanded to provide support in other areas of education. Find out more here