LGMD causes muscles, particularly in the shoulders, hips and thighs, to weaken and waste over time, leading to increasing disability.
Today is LGMD Awareness Day, and Aimie has described how she was only diagnosed aged 16 after repeatedly being given the incorrect diagnosis while growing up. She says has often felt ‘overlooked’ and ‘humiliated’ because of people’s reactions to her condition.
How LGMD affects Aimie
Aimie said: “Repetitive movements cause me to become weaker and fatigued. The more physical activities I do, the weaker I become. I always plan my day, making sure I don’t overuse my muscles and become too tired. I have good days and bad days; on my bad days my limbs feel heavy and it feels like a force is holding me back and it is difficult to complete simple tasks.
“Because of my muscles becoming weaker, I have severe lower back pain due to limited strength in my hips and core muscles to support me. My condition isn’t visible, so I have often felt overlooked and that people don’t believe me.
“I walk with a waddle – people sometimes think I have a bad leg instead of a disability. This makes me self-conscious, especially on my weaker days, when it is more noticeable.
“I receive a lot of support from my family and partner with daily life. I have a downstairs bedroom and wet room with adaptions and the ground floor is all on one level to help me.”
It took until the age of 16 for Aimie to receive her diagnosis, despite symptoms worsening since she was a toddler.
The journey to getting diagnosed
She said: “When I was 17 months old I had just started to walk, and suddenly within a matter of hours I became unable to use my limbs. This progressed until I could only move my eyes. My mum and dad rushed me to our local hospital, and I was then transferred to a teaching hospital.
“They undertook a muscle biopsy and diagnosed me with polymyositis – an inflammatory disease that causes muscle weakness.
“I was treated with steroids and until the age of 3 this improved my strength. I was discharged from the teaching hospital because they were pleased with my progress and put under the care of my general hospital, which discharged me a year later.
“My mum was concerned as I was still struggling physically, but she was told that this would improve as I got older.
“However, this was not the case. I would hold onto my mum’s arm whilst walking and couldn’t walk long distances. On numerous occasions I would fall over.
“Just before starting secondary school, my mum was concerned I wouldn’t be able to cope with the physical toll of a large school. I was referred to hospital at the age of 10 years old. After a second muscle biopsy they diagnosed me with juvenile dermatomyositis – an autoimmune disease that results in muscle weakness.
“The treatment for this involved a three-day course of IV steroids and weekly injections of methotrexate. The consultants told my mum that we would see a vast improvement in my physical health, and it was imperative I took these drugs. We didn’t see any physical improvement, even when they kept increasing the dosage.
“After several years of being on these drugs, my consultant suggested I try a low dose of cyclophosphamide – a medication that’s used to treat chemotherapy.
“I was near to my last year of school and the doctors were trying to improve my health for when I undertook my exams. I started my treatment of this drug, which took 8 hours through intravenous administration.
“But after numerous doses there was still no improvement to my physical health. The consultant then suggested another drug called infliximab, which is used to treat a number of autoimmune diseases.
“At this point my mum requested a second opinion. I was assessed at Leeds General Infirmary who consulted Great Ormond Street Hospital and Guy’s Hospital. Further tests were carried out and finally a correct diagnosis was made of Limb Girdle Muscular Dystrophy.”
Aimie’s journey after leaving school
Aimie said that her diagnosis meant she was rejected from further education places after fears from tutors that her desired course would be too physical.
“I left school before my full diagnosis, and was offered a place on an Art and Design but felt too weak to start it. After getting my diagnosis and being put on the correct medication, my strength improved.
“I went on to study floristry and applied for a course at a college, but in my interview the tutors told me it would be too physical, and the environment wasn’t suitable for my needs.
“They also suggested doing floristry as a hobby – I felt humiliated and worthless. My mum fought this decision and with her help I completed the course.
“After researching other floristry courses, I decided I would try another college and without any hesitation the tutor accepted my application for BTEC Level 3 Floristry.
“With the support and guidance of the brilliant tutors I went on to complete my BTEC Level 3, and graduated with an FdA in Floristry Design. Whilst at college, I won second place at Harrogate Flower Show and my floristry work was shown in The Flower Arranger Magazine.”
Other difficulties Aimie has faced include having to go through the process of a mandatory reconsideration for her PIP claim.
How MDUK helped Aimie
Aimie says with the “tremendous support” of advocacy staff at Muscular Dystrophy UK, Hallamshire Hospital, and UCLH, she was finally awarded PIP.
Aimie says that more needs to be done to raise awareness of LGMD. She says the awareness day is important to help “educate” people in how the condition it affects daily life and that things like Muscular Dystrophy UK’s Muscles Matter seminars help do this.
She added: “To raise awareness of LGMD there could be a programme on TV or talks on the radio. Talks could be held in schools, colleges, and universities to educate people of LGMD. This would help younger individuals with this condition to feel more understood.
“I do daily stretches to ease my pain and use resistance bands to work my hip muscles. Before lockdown I was going swimming at the weekends with my partner. This helped me to move more freely and use my muscles.”
Aimie and her partner are hopeful for the future, and her LGMD is stable at present. They have recently reserved their first home which will be adapted for her needs and hope to move in next year.
“Hopefully”, she said, “one day my partner and I will be able to start a family.”