HELPING HUNTER - A CURRENT AFFAIR 08.10.24

A Current Affair Article

Hi, we are Stefanie and Shannon parents of the most beautiful, funny and heartfelt 6 year old boy Hunter.

Hunter had a very difficult start to life and has been fighting hard to gain independent mobility since the very beginning. Multiple therapy appointments a week is the normal for him and he has never had the ability to physically move freely like other children his age.

In may of 2023 hunter was diagnosed with Duchenne Muscular Dystrophy, a chronic progressive degenerative neuromuscular disorder, effecting the musculoskeletal structure, lung and heart function. Resulting in loss of independent mobility by the teen years and an expected life expectancy of late teens to early 20s, in some rare cases the mid 30s. This extreme form of muscular dystrophy only affects males as it is X chromosome based.

Unfortunately Hunters genetic deletion is a much less common mutation and his muscle wasting has progressed significantly further than other DMD patients his age.

Hunter does not fit the typical symptom criteria as his onset was from birth, he never achieved the skills these boys typically start losing at age 5 onwards.

Since starting steroids in 2023 we have seen huge motor growth, however this is only temporary and a gene therapy is what we truly need to save our son.

Hunters deletion type and age means he is not currently eligible for any Australian clinical trial gene treatments or exon skipping treatments. Majority of the future treatments are aimed at the most common mutations, thus excluding him.

At this point in time there is no way to prevent the progression or reverse the damage once it is done.

This disease in a nut shell means the body cannot repair damaged muscle and over 50% of hunters total muscle mass has already died…Leaving the remaining deteriorating slowly.

The FDA recently approved a gene therapy for boys with duchenne ages that administers a micro amount of dystrophin to the body, significantly slowing the disease progression. This treatment is labeled ELEVIDYS by sarepta and has been accepted for treatment in the United State and other countries. The biggest issue with this treatment is the attached price, somewhere in the multi millions.

As Hunter is already so progressed in his delays we are desperate to access micro dystrophin treatments now before he loses even more mobility and organ function. As damage is irreversible we are against the clock.

Waiting a few more years is the difference between healthy and unhealthy organs and a walking or non walking child. Unlike some boys with duchenne who walk into their teen years hunter is already heading into full time wheelchair usage at only 6 years old.

I know it’s unlikely we will ever raise enough money to access this treatment, so we are hoping the government will consider our application with new eyes after the aca story and the awareness it has raised.

we are looking to use any funds raised to help cover ongoing medical costs so we can access better preventative care for our son, and contribute towards a wheelchair accessible vehicle.

Patients in the u.k and u.s were living longer than our patients prior to gene therapy due to early interventions by multiple specialists. That is NOT the standard practice in AUS so we’re stuck on 2 year waitlists for gastroenterologist, cardiologists and endocrinologist, neurologists ect… specialists we need to see now! We are wanting to go privately for these specialists so that we can access the preventative care as early as possible but private appointments carry a large price point.

We are also needing to upgrade our vehicle as hunter will soon be in an electric wheelchair full time and our cars are not eligible for conversion.

we are blessed in that we receive NDIS funding to cover the vehicle conversion and his weekly therapy appointments however the NDIS do NOT cover any medical specialists of the purchase of the vehicle itself. Meaning both the car and private clinic appointments we need to maintain preventative care will be straight out of our pocket. We are faced with the choice, go publicly for specialist and wait years only acting once damage is done or go privately and try to slow down this disease as much as possible. The earlier the intervention the better the chance we have at prolonged cardiac and respiratory function.

Australia's standard practice of care for Duchenne is years behind that of the U.S and U.K

To further clarify the ndis do not cover:

-Items and services covered by the Medicare Benefits Schedule (MBS) and Pharmaceutical Benefits Scheme (PBS), nor Medicare gap fees.

-Treatment, services or supports delivered by a doctor or medical specialist, including diagnosis and assessment of a health condition.

-Items and services provided as part of diagnosis, early intervention and treatment of health conditions, including ongoing care of chronic health conditions.

Australia being a small country with most boys having similar deletion patterns and similar ethnicities means we are very limited with trials and future treatment forecasts. Big pharmaceutical companies are looking for wider result brackets.

We are simply hoping that if enough people put in $1 we can do all that we can to help SAVE our Son.