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A patient's struggle: the fight for diagnosis, recognition and awareness

Feb 18, 2019 • 3 comments

Meet our member, @Hidden username‍, who tells us her story.

My name is Isabel Amaro - Izzy. In 2013 I started to feel “funny” but I could not explain what was wrong with me. I was working as a nurse. I was a nurse for almost 30 years and nursing is, was and always will be the “love” of my life. I loved every second of my work. I was working in the A&E Departments and it was maniac but with all honesty, it was what made me feel happy, comfortable and in peace with life.

So when I started feeling “funny” I decided to go to my GP. I repeated to her exactly the same words - feeling funny. 

A patient's struggle: the fight for diagnosis, recognition and awareness

Journey to diagnosis

I did so many tests and ended up with a neurologist. There was a slight “shaking” in my limbs and my hands. The neurologist then decided to do an EMG (Electromyogram) and when I looked at the monitor, I knew that I was really in trouble!

From EMGs to genetic tests and a muscle nerve biopsy…I was booked into an Urgent Appointment and I knew that it was going to be bad news.

I went to the appointment and the doctor was very honest and told me that I was diagnosed with a Neuromuscular Disorder called Spinal Muscular Atrophy (SMA) type 4. I really felt like my life was over.

Post-Diagnosis

I had to stop working and I started on a tonne of medication for my symptoms.

Today, 5 years later, I can’t walk, I fall every day. I have become double incontinent, tired, frustrated, angry, shaking as if I had epilepsy. Fortunately, I have my cat, Jamal, for company and support. I can’t cook, I can’t clean my tiny flat, I can’t have a bath, I fall very often, my balance has gone, my body does not obey me anymore.

I am currently attending many appointments as even my swallowing and breathing muscles have been affected. I have a cough machine at home on the maximum limits as I am prone to chest infections that easily become pneumonia.

My head will never be affected but I struggle with everything else. SMA is progressively rapid and degenerative and has no cure.

Support

My GP, the nurses, physiotherapists, paramedics and everyone in the Ventilation Unit here in Manchester are MARVELLOUS! They can’t do more for me, it’s frustrating for them and for me to try and deal with this disease. I try to fight everyday but I have the impression that SMA always wins.

Many of my friends didn’t know how to handle my disease and a lot of them have disappeared. I have one amazing friend but he works and with his job he has to be far away from Manchester. I find it hard being alone so often.

The future

I feel the Council had left me down in providing my care. I had to find a private carer - it’s expensive but I have no other choice. I am trying to find a charity to help me as I need a mobility scooter and a touchscreen laptop, but so far I have had no luck.

The knowledge the NHS has of SMA is very much lacking because it is such a rare disease. I want to raise awareness of this disease so hopefully the government will choose to give more funding and take patients with SMA more seriously.

If there is anyone with SMA please contact me as I’m willing to fight for awareness.

Thank you all for reading my story that all began in 2014.  Everyone is free to contact me.

Stay safe, happy and smile. Do me a favour- appreciate the small things...because when you lose them, you realise how previous they were.

avatar Louise Bollecker

Author: Louise Bollecker, Community Manager France and Content Manager

Community Manager of Carenity in France, Louise is also Content Manager in charge of moderating and distributing articles, videos and testimonials to all members. Specialised in Brand Content, her objective is to carry the voice of patients and facilitate their experience on the site.

Comments

on 2/19/19

Did you read this testimonial? Can you relate?

@Hidden username‍ @Hidden username‍ @Hidden username‍ @Hidden username‍ @Hidden username‍ @Hidden username‍ @Hidden username‍ @Hidden username‍ @Hidden username‍ @Hidden username‍ @Hidden username‍ @Hidden username‍ @Hidden username‍ @Hidden username‍ @Hidden username‍ @Hidden username‍ @Hidden username‍ @Hidden username‍ @Hidden username‍ @Hidden username‍ @Hidden username‍ @Hidden username‍ @Hidden username‍ @Hidden username‍ @Hidden username‍ @Hidden username‍ @Hidden username‍ @Hidden username‍ 

on 2/28/19

I am inspired by your matter of fact approach to your condition it has not overtaken you to the extent you have given up and it does not appear to have defeated you, I truly hope you are able to raise awareness of SMA and it will make the necessary changes for all people with this condition.

on 7/19/19

Reading your testimonial has made me realize how minor my problems are compared to yours. I admire your spirit. i sincerely hope that you will get some help towards funding for your needs and wish you the very best of luck in raising awareness of SMA and wishing you success in getting some funding from the Government.

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