A carer has shared this story with us in the hope that it may help someone else who is living with a chronic medical condition. The carer takes up the story in their own words: 

Living with a chronic illness can be a challenge to say the least and it is normal to feel grief and sadness especially if like me your condition did not raise its ugly head until later in life. Coming to terms with what the future holds and how you and your family are going to cope can be a huge challenge and can definitely affect relationships.

When I first started displaying symptoms of muscle weakness in my late 30’s I did not think for one minute that I had an extremely rare form of Muscular Dystrophy! I had gained weight over the years mainly through comfort eating due to dealing with a number of family problems including the sudden death of my sister-in-law at the age of 30 and how this affected my brother and other members of the family. So when I started experiencing breathlessness, when climbing the stairs at home and when walking up steep inclines, I put it down to just being unfit and overweight. I then decided to go swimming twice a week and visit the gym but found that these were both extremely challenging activities even when I was only doing the breast stroke, but again I never thought that the pain and exhaustion I was experiencing had anything to do with suffering from a chronic medical condition.

It was not until I was 45 years old that I became quite ill. It started off with symptoms similar to the flu but after 3 weeks I was unable to lift my arms higher than waist height and unable to walk as I was so weak. Unfortunately my G.P. prescribed some pain relief and advised me to rest so for the next 3 months I did not leave my armchair unless I had to visit the bathroom or go to bed which I needed assistance with both. It was not until I saw a newly qualified Locum Doctor that my symptoms were looked at more seriously.  Thankfully he took bloods and I was given the news that there was something not right with my muscles. I was then referred to a Rheumatologist who was very thorough however she told me that my condition was beyond her remit and that I would need to be referred to a Neurologist. I was then put onto a waiting list for Neurology and it was another 4 weeks before I saw Dr James Miller at the R.V.I. When I finally saw Dr Miller he arranged numerous tests for me including a full day’s worth of nerve conduction studies, a muscle biopsy and an MRI scan as well as the usual blood tests. He even arranged for my DNA to be tested in Birmingham and genetic testing carried out at the Centre for Life. One thing I cannot fault is the attention that I received from the N.H.S. 

Unfortunately it took three years for all of the genetic testing to be completed and finally at the end of those three years I was told that my condition did not match with any genes and that I may never receive a full diagnosis. So for the next seven years I basically had to just get on with life seeing my Neurologist once a year and being given exercises to do which would keep my muscles moving although they were still breaking down.

It was not until 2016 that I was finally given the news that the Centre for Life had discovered a mutation of a particular gene and that my blood samples were a match. Upon receiving this news I was so excited as I finally had a name for my condition. In fact I was so excited I started ringing all of my family and friends to tell them the good news.  Everyone then started saying “So they can treat you now and you will get better?” Of course this was not the case as Muscular Dystrophy is a progressive condition and is incurable plus by then the muscle wasting had also started affecting my heart, which again is progressive and incurable, nevertheless I was still over the moon as I now could tell people exactly what was wrong with me.

This diagnosis was definitely a surprise especially when I received the news that there are only 6 people in Europe who have my particular type of Muscular Dystrophy and that I am the only one in the U.K.

I think the hardest part has been coming to terms with accepting that there are things which I can no longer do and that I sometimes need to call on either my husband or youngest daughter to help me especially with personal tasks. The first time I had to ask my daughter to cut my toe nails I was in tears as I felt so hopeless!  However my daughter looked up at me and said quite sternly that if I didn’t stop crying she would not continue to help me. 

It has taken some time but I now accept that it is not a bad thing to ask for help. Also with the help of one of the Support Workers at Gateshead Carers, an Occupational Therapist visited me to carry out an assessment of my bungalow. I now have a number of aids around my home to help me which have been an absolute godsend.

For anyone out there who is struggling or if you know of anyone please get in touch with Adult Social Services at Gateshead Council as it is amazing how much help is available. It doesn’t matter if you are living in either social housing, housing association accommodation or you own your own home you are still eligible to seek help. Doctors and Consultants are very good at prescribing medication and diagnosing medical conditions however no-one tells you about the practical support which is available.

I try to stay positive as much as possible however there are some days when I am very tired and I am unable to do very much especially around my home. One thing I have learnt is not to do too much as there have been times when I have felt quite well and thought I could conquer the world but have then discovered afterwards that I am unable to do anything for a good 2-3 days. Nowadays I still try to carry out tasks as much as possible such as hoeing the border in our front garden however even if I feel okay afterwards I always stop and rest as I know I can overdo things.

Hopefully with reading this it helps you to know that you are not alone and there are others going through similar experiences. 

Take care of yourselves and make sure you enjoy life as much as possible!