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

Feb 18, 2019 • 2 comments

Meet one our members from Carneity UK. She tells us her story with her diagnosis of Spinal Muscular Atrophy.

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

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 always hectic, but in all honesty, it was what made me feel happy, comfortable and at peace with life.

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

Journey to diagnosis

I did so many tests and ended up with a neurologist. I had 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 urgen 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.

Image of member of testimonialPost-Diagnosis

I had to stop working and I started on a ton of medication to help with my symptoms.

Today, 5 years later, I can’t walk, I fall every day. I have become incontinent, tired, frustrated, and angry... I shake 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 apartment, I can’t bathe alone... I fall very often, my balance is gone, and my body does not listen to 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 and neck 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, physical therapists, paramedics and everyone in the respiratory care 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 where I live. I find it hard being alone so often.

The future

I feel the government health insurance let me down in providing my care. I had to find private insurance and 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 favor- appreciate the small things...because when you lose them, you realize how precious they are.

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

Thank you for your willingness to share your story. It is heart breaking to read. I am so sorry for you having to go through this and also be left without the care you need. I understand what you are saying as far as health costs... it is very expensive here in the United States.

I hope you do find a charity to help you and I wish you nothing but health now and in the future. Thank you for your bravery.

on 2/22/19

Thank you for sharing your story and your courage! I agree with the above poster; in the USA, the healthcare is outrageous in many situations... the news you hear is true.

It is surprising for me to hear that you also are unfortunately facing that difficulty in the UK. I hope you are able to afford the care you need; nobody should have to go broke in trying to take care of their health and I hope the UK changes their outlook on SMA.

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