Help Joshua with an accessible wheelchair vehicle

My super hero needs your help.

Hi, my name is Michelle. I am a mother of 4 boys; William, Joshua, Sebastian and Benjamin. Joshua, my second eldest son, unfortunately, has Duchenne Muscular Dystrophy and needs your help.

In August 2017, my bright and bubbly son Joshua was diagnosed with something I had never heard of - Duchenne Muscular Dystrophy (DMD). There was no history of genetic diseases in any of our families and up until then, we as a family, thought we had a perfectly healthy boy.

Duchenne Muscular Dystrophy is the most common fatal, genetic childhood disorder, which affects approximately 1 out of every 3,500 boys each year worldwide. There has never been a survivor of DMD. Currently there is no cure.

It is mostly a genetic disorder passed down by the mother, but 30% of boys born are due to a random mutation. I am not a genetic carrier and have no family history, therefore it is a random mutation that has occurred at conception. Duchenne can affect any boy or family.

Duchenne Muscular Dystrophy {DMD} is caused by a mutation which prevents the body from producing a protein called Dystrophin. Dystrophin acts like a shock absorber when muscles contract. Without Dystrophin, muscles become damaged and weak.

Duchenne is usually diagnosed between the ages of 4 to 6yrs. Muscle weakness becomes more evident around the age of 4.

At the age of 5, Joshua was struggling to keep up with his friends at school, he had an awkward walk and always complained of being tired. His kindy teacher often mentioned the things he could not do and as a result I was made aware that he was unable to supernate, turn his hand upwards to the sky, and I was referred to an OT. At the OT, she observed his writing, cutting and colouring skills and was unsure why he was there. I felt the teacher was comparing him to children a year younger than him as he is the youngest in his classes being a June baby. However she was on to something devastating. The OT asked me if I had any other concerns and I had 2. I could not get Joshua to hop or balance on one foot. As a result she referred me to a physio. I thought I was going there for some exercises to help Joshua achieve these actions. Instead, he was examined head to toe and I was told he needs a referral to a Neurologist. I was in absolute shock and my heart was in so much pain. In her letter this physio wrote that Joshua had either Cerebral Palsy or Muscular Dystrophy. As you can imagine, my world fell apart. I took this to our GP and he couldn’t believe it as he had known Joshua for a few years. However, he had to refer Joshua to a Paediatrician. The Paediatrician said that he definitely did not present like a boy with DMD and said he did not have it but Joshua needed a blood test to confirm. The Paediatrician called me the next day apologising as Joshua’s levels were through the roof, he was informed the evening of the blood test!! This was the worst day of my life.

So, here how it works… Muscle loss occurs first in the thighs, legs, pelvis followed by upper body loss. Duchenne is 100% fatal, usually from lung or heart failure. There is a shortened life expectancy (mid to late twenties).

Currently there is No Cure, only medication known to slow the severe progression is steroids. Joshua has taken steroids since he was around 6 years old. Whilst steroids have given Joshua the ability to still be reasonably mobile and able to still walk short distances at nearly twelve years of age, steroids have also caused Joshua’s growth to be stunted, it’s has begun to cause an increase in weight gain and affects his moods and ability to cope in certain situations.

There is, however, an exon skipping drug that will slow the progression to particular deletions. Joshua is amendable to this drug. However, it comes at an expense of over $350,000.00 a year!!! Since Joshua was 8, contact was made to the health department, all the politicians and the drug company NS Pharma to try and obtain the drug, with no luck at all. It has only been approved in Japan and America and Joshua is unable to access it unless the drug is paid for. It’s just devastating!!! Yes, I have tried raising the funds for that too but have been unsuccessful.

Joshua was suppose to be on a Drug Trial for the treatment but covid struck and that was the end of the trial for Joshua as he turned 8 and was then deemed too old! As a result, Joshua’s muscles are rapidly deteriorating; he is falling more, struggling to walk, can not run anymore, can not step up one single step; he use to be able to run up the Opera House steps. He is unable to get off the floor, needing assistance all the time, he is struggling to get into my current car making life difficult. It’s just devastating. Imagine being able to do something and then slowly having that ability taken away from you.

As a family, we have always had a positive outlook, making each day count and have always been hopeful of a cure or drug to stop the progression. We are now seven years into Joshua’s diagnosis and there is still no other treatment except steroids.

I have come to a realisation, due to Joshua’s sudden decline, that the time has come to start planning for the next stage. I am grateful that Joshua is still able to walk short distances at almost 12 years of age, but as I watch the decline in his muscle strength and the lack of ability to do day to day things, I know know that in the next 6 to 12 months that Joshua could possibly stop walking. This will be heartbreaking for all of us and challenging in so many ways.

So, Joshua needs an accessible vehicle.

I am indeed grateful that The Australian Government will purchase a standing electric wheelchair, when needed, which will provide Joshua with the freedom and independence he will require. However, the only assistance Joshua will get towards an accessible mode of transport, is that NDIS will pay for the modifications of the vehicle.

Firstly, I will need to purchase a suitable vehicle myself and then have the modifications done to suit Joshua’s needs as well as being able to fit myself and his brothers in the car. Financially I am not in the position to purchase such a vehicle due to being on a single income; funding the majority of our family needs. At some point I will need to be Joshua’s full time carer which means a loss of income.

The vehicle must meet certain stipulations and needs to be almost new to last Joshua’s lifespan. (NDIS only pay once a lifetime towards adaptations for a vehicle)

Eventually I will also need to look at an accessible house to enable me to provide the care for Joshua so he can continue to have a quality of life he deserves. This is something that will come as a personal expense to me.

The boys and I have a fundraising focus and that is to be able to purchase an accessible vehicle and to continue to create cherished memories together with Joshua. We have plans for family holidays to visit extended family and friends over East in NSW and QLD. We hope to continue to experience some amazing adventures whilst we can!

My

Go-Fund-Me page is only part of the fundraising I have planned. I endeavour to do many other fundraising events over the next few months also, to help raise the much needed funds for my son Joshua.

Please help Joshua and his brothers by giving a big or small donation.

We are so grateful for any donations!!

Asking for help is so difficult for me, however Joshua has taught me so much about life and how if we need help, we need to ask for it. Life is too short!