The Brain Charity offers additional information and support on Chiari Malformation and Syringomyelia. Click the links below to learn more and access helpful resources:
Syringomyelia: https://www.thebraincharity.org.uk/condition/syringomyelia
Chiari Malformation: https://www.thebraincharity.org.uk/condition/chiari-malformation
“I’m chair of the Syringomyelia Arnold Chiari Association, the NI support group which supports families living with Chiari malformations and syringomyelia. I have a history of syringomyelia myself, and the majority of people I know with this condition have a Chiari malformation also. In SACA, I’m one of the unusual members who do not have Chiari (a disorder affecting the lowermost part of the brain), and I’d like to share my story.
My syringomyelia affects my spine and is caused by a neural tube defect called spina bifida occulta, a congenital condition. I have scoliosis too, which was diagnosed at age 2/3.
It was over 30 years ago, aged 30, when I first experienced any neurological symptoms, a heaviness in my left leg with shooting pains if I jarred my heel. Suddenly, I had difficulty running for a bus. Up to then, I was very active.
On examination, my GP discovered that my reflexes were poor, and I had lost some sensation in my left leg, an inability to feel hot/cold temperatures & pain. I was referred to a neurologist who carried out a thorough examination. I had a loss of sensation in other parts of my body, too, all on the left side. I was referred for an MRI scan. Back then, there were very few MRI scanners, and I had to travel to Dublin for my scan. Afterwards, I was referred to a neurosurgeon in Belfast for the scan results.
It was explained that I had cyst-like abnormal fluid in my spinal canal, which had caused nerve damage; the condition was rare and called syringomyelia. That cyst-like cavity is often referred to as a syrinx. The neurosurgeon decided the best option was to monitor me, and he did so for many years.
An aunt and uncle in the USA thankfully did some research and found a US support group for syringomyelia, which was aware of an Irish syringomyelia support group. My aunt even telephoned Gena in Co Monaghan, explaining about her niece’s syringomyelia diagnosis. I got in touch with Gena, who then told me about Nuala and Frank Somers from Co Armagh who had formed a syringomyelia support group in Northern Ireland. It was wonderful to speak with others who were living with my newly diagnosed rare neurological condition, syringomyelia. I no longer felt alone.
The Irish support group no longer exists, sadly, but they were instrumental in me receiving treatment for my syringomyelia. I attended a talk in Dublin where a neurosurgeon, Mr Bernard Williams, at the time a world-renowned expert in syringomyelia from Birmingham, was speaking to their group, many from the NI group attended too and some had been treated Mr Bernard Williams. I later went to Birmingham for a consultation with Mr Williams as my symptoms were increasing, I was experiencing more pain, tingling in my fingers and my local neurosurgeon welcomed getting a second opinion. I returned to Birmingham the following year for surgery, a lumbar peritoneal shunt was placed in my spinal canal. This procedure successfully collapsed the syrinx. Sadly Mr Williams died as a result of a RTA a few months later.
Prior to my shunt surgery I found it difficult to lie flat on my back due to pain, after recovering from surgery I discovered this was no longer an issue; other pain and tingling sensations disappeared too. I had experienced nerve damage, possibly for many years, so the loss of sensation remained. We had one daughter at that stage and it gave me the confidence to have a second child. After the birth of my second child, I reduced my working hours but was able to continue working and rear our two daughters with the help of my husband.
This May was the 30th anniversary of my shunt surgery. How am I now?
I had some mild bladder issues when I was first diagnosed, I was having difficulty emptying my bladder, this symptom remained and increased over the years, along with symptoms of overactive bladder and mixed bladder incontinence, all very inconvenient. There are many treatments for these conditions in the NHS, which I’ve had and I’m very grateful for. My current treatment, botox injections into the bladder, makes my life much more pleasant. I attend a urologist for this treatment. I need to self-catheterise intermittently to help me empty my bladder. It’s wonderful when there are medical treatments and devices which make life less complicated and give you the freedom to get out and about and enjoy life.
My syrinx is still collapsed according to my most recent MRI scans. My leg weakness, numbness, stiffness continues to bother me. Physiotherapy and Pilates helps, but it’s challenging getting the right balance of exercise. Self-management of my health conditions is very important to me and takes time and effort.
I found the increase in symptoms and absence of a syrinx difficult to understand, but eventually, thanks to another support group, Shine, and a rehabilitation consultant I learnt more about the effects of spina bifida occulta (SBO) on our bodies as we age, and this knowledge was only obtained over the last 4 -7 years. I learnt that it’s not unusual to become symptomatic with SBO in middle age. SBO is a closed form of spina bifida, the most common form and it’s considered mild.
It was at a Rare Disease event that I first met the Shine charity. My lucky day!!
Having spina bifida occulta on my health records (eventually) was invaluable as there’s a NHS care pathway for monitoring and management. It’s so frustrating that this isn’t the case for syringomyelia. Thanks to this monitoring, other health issues have been picked up and treated, including high blood pressure and kidney stones.
Both syringomyelia and spina bifida occulta cause similar neurological problems, due to nerve damage and as a result symptoms can come along when you least expect them.
I rarely mention fatigue or lack of energy, it exists and I try to manage it as best I can. My scoliosis caused shortness of breath, again I have learnt to manage this with help and support.
I’m very grateful to the NHS and all the support groups and charities I have had dealings with during my journey since my diagnosis. They gave me the confidence to self-advocate and keep seeking answers.
Apart from the rare & neurological groups and charities, I have received great support from Versus Arthritis, although I don’t experience chronic pain, my numbness, weakness and stiffness in my left leg needs some gentle exercises and their online Chi Me (easy Tai Chi) classes are very helpful.
Along my journey I found helping others to be something positive and hence got involved in the syringomyelia support group Frank and Nuala Somers set up 35 years ago, then called Ann’s Neurological Trust NI, we worked hard to get charitable status and we changed the group name to Syringomyelia Arnold Chiari Association (SACA). We have a small team of friendly dedicated volunteers who have lived experience of Chiari and syringomyelia. Our private Facebook page keeps us in touch with over 180 people on a daily basis.
I’ll admit, I get frustrated about the lack of care pathways and the lack of neurological rehabilitation, issues that are very important to individuals and families living with rare and progressive neurological conditions. So there’s still much more work to do with the help of NIRDP and niNCA the Neurological Charities Alliance.
I’m blessed that I have a positive outlook on life, despite its many ups and downs, distraction is a great tool and at home I enjoy watching the birds this time of year in our wild garden and reading. I enjoy getting out and about and trying out new activities too, including Gamelan with Open Arts, arts and crafts last winter with Arts for All and recently pottery.
The help, support and encouragement I have received from NIRDP has been invaluable down the years and still is today. To be honest, I probably would not still be doing what I do as a charity volunteer without the friendship and support of NIRDP, thank you NIRDP from the bottom of my heart and thank you for allowing me to share my story. “
– Miriam Martin ,Chair,SACA
