Katrina Rose

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Spinal muscular atrophy (SMA) is a genetic condition that affects the nerves that control muscle movement – the motor neurons.

It is named 'spinal' because most of the motor neurons are located in the spinal cord. 'Muscular' is in the name because it mainly affects the muscles that don’t receive signals from the motor neurons. ‘Atrophy’ is the medical term for wasting away or getting smaller, which is what generally happens to muscles when they’re not active.

SMA affects muscles throughout the body, although the muscles closest to the trunk of the body – the shoulders, hips, and back – are often most severely affected. Sometimes, feeding and swallowing can be affected. Involvement of respiratory muscles (muscles involved in breathing and coughing) can lead to an increased tendency for pneumonia and other lung problems.

SMA is a relatively common 'rare disorder'. Approximately one in 6,000 babies born is affected, and about one in 40 people are genetic carriers. There is no cure, but there are some promising treatments being tested in clinical trials.

My name is Kat and I was born with Spinal Muscular Atrophy Type 2. I thought I would share a little bit about how I was diagnosed and my life now. 

My family started noticing that there were some things that weren't quite right with me; not long after I was born. I was very weak and too tired to drink. I had to be fed through a tube into my stomach for a few weeks until i was strong enough to suck.

I was slow at developing the skills to be able to sit up, crawl and walk. At 11 months old I started sitting up with a little bit of help, I was slow at learning to crawl and once I learnt to crawl I got tired easy and was slow. 

I was very independent, I tried many times to be able to walk but I just couldn't it was such a struggle. 

My family noticed that while standing I had a funny gait that at 15 months I was taken to the doctor and had grommets put in my ears hoping to improve my balance but I still didn't take that first step without holding furniture or someone hand.

The day after my second birthday, Is the day everything change. I was in my high chair watching Nan iron clothes and then I started making a strange noise, my nan looked over to me and I was having a Seizure that caused me to stop breathing. 

Pop called the ambulance to take me to the hospital. The nurse asked my Nan does she walk? And my Nan responded with No. 

The nurse noticed I didn't have any reflexes, after some discussion it was best for me to be admitted to the hospital. Nan settled me down for the night and went home to the kids.

The next morning a doctor by the name of Dr Short was down from the USA working, she was worried about me having no reflexes and a funny gait. 

The hospital decides to keep me for a further 5 days, On the 5th of December we go back and see Dr Short to see how things have been. While we are there she tells us she has made an appointment to see a neurologist from the Royal Children's Hospital in Melbourne. 

My Nan found out around Christmas time that I have a muscle wasting disease; I can imagine that life would have been hard for my family at that point.

My nan had to put on a happy face to give my brother who was 4 and my Aunty who was 8 a good Christmas. 

At my appointment at the Royal Children’s hospital, the neurologist had to do lots of medical test to find the name of my disease. I had to have a MRI scan, Muscle depth test, blood test and a genetic link. I was told by my Nan that I only cried once that's when my blood was getting taken. 

On the 16th of January 1997, my neurologist came around to speak with my Nan to prepare her for some devastating news that I have a progressive disease and that there is nothing that they can do.

A few weeks later we met with my neurologist again for the full test results, he said that I have Spinal Muscular Atrophy type 2 this is a rare inherited genetic muscle wasting disease that is characterised by a loss of nerve cells called motor neurons.

The affected muscles not only include the muscles you see like your arms and legs, but all your internal muscles like breathing, coughing and swallowing. 

The loss of motor neurons leads to the progressive muscle weakness and wasting near the end of my life span I won't even be able to hold my head up without support. 

Then Dr Hopkins prepared my nan for something even worse than that anything above 10 years is a bonus, both parents needs to be a carry for the disease and it's 1 in 4 chance of getting the disease from both parents. Approximately 630 die from SMA in Australia. 

I have never let Spinal Muscular Atrophy stop me from living a fulling life, I attended mainstream school and completed year 12. I had a make a wish trip to meet Mickey & Minnie Mouse at Disneyland in Los Angeles. I also swam with a very special dolphin at Seaworld in Queensland, his name was flipper who starred in the movie called flipper. Currently today I am 24 years old, My partner and I moved in together. This is our 4th year, I have Just finished studying Accounting in certificate III and I am getting married this October. 

Spinraza (nusinersen) is a new medication that was recently approved by the US Food and Drug Administration (FDA) for the treatment of all forms of SMA. Multiple research studies, called clinical trials, have demonstrated that the drug significantly slows the disease’s progression and, in many cases, improves the strength of individuals with SMA.

When I first heard about Spinraza I was so excited. When you’re old enough to understand what’s going on and that you will get worse, suddenly you don’t know how to deal with the disease. My muscles are slowly being destroyed and it's scary not knowing how fast this disease will progress. My arms feel like they are weighted down everyday, it makes it hard to do simple tasks like eat, brush my hair, apply my makeup or even scratch my head. I keep up to date with other people who are receiving Spinraza and the impact it has on their life. I don’t know if I’ll get some movement back but even if it just stops or slows down the progress, any movement and strength I currently have won’t be taken away.