Dan and I on the train to London for his appointment with his neurologist in December 2018
About Ataxia and us

What is Friedreich’s Ataxia?

On the run up to Rare Disease Day this year, I realised that I haven’t actually done a blog solely on Friedreich’s Ataxia (FA). When people ask about the condition that Dan has, it’s sometimes hard to know what to tell them; FA has so many different effects and symptoms, and they can vary quite a lot between individuals.

So, in this blog, I’ll try to explain what FA is, how it affects Dan, and I’ll also try to answer some of the questions people might have about the condition.

What does ‘ataxia’ mean?

The word ataxia is used to describe problems with balance and coordination. Someone with ataxia will usually look unsteady/wobbly on their feet and will probably also have jerky movements. Ataxia is effectively a symptom of an underlying condition, or an injury.

A lot of people who have a condition that causes ataxia are often mistaken as being drunk. The unsteady walk and lack of coordination, can resemble someone you’d see at kicking out time on a weekend night.

What causes ataxia?

As well as Friedreich’s Ataxia, conditions such as Multiple Sclerosis (MS), Cerebral Palsy, and Cerebellar Ataxia also cause ataxia. Other causes include toxic reactions/ poisoning, severe nutrient deficiencies and damage to the brain, for example from a stroke, tumour, viral infection or head trauma. So, people can have ataxia for loads of different reasons, meaning it will be accompanied by a lot of other varying symptoms, depending on the specific cause in each person.

What is Friedreich’s Ataxia (FA)?

There’s a lot of things that can cause ataxia; some permanently, and some temporarily.

FA is a hereditary, neurological condition that causes damage to the nervous system and movement problems. It is caused by a faulty gene; however, even if both parents are carriers of the faulty gene, there’s still on a 1 in 4 chance of their child having the condition. FA is rare, affecting around 1 in 50,000 people.

Because FA is degenerative/ progressive, it gradually worsens over time. This is because certain nerve cells in the body become damaged and eventually die. Sensory nerve cells in the spinal cord and cells that connect the spinal cord to other areas of the brain, are mostly affected. Other problems can arise because cells in other parts of the body, such as the heart (causing cardiomyopathy/ heart failure) and the pancreas (causing diabetes) are also affected.

The condition usually becomes apparent between the ages of 5 and 15. Generally within around 10 years of diagnosis, the person has to use a wheelchair.

What are the symptoms and complications of FA?

The symptoms can vary between individuals; some people will have all of the known symptoms, and some will have fewer of them. As well as people having different symptoms, the severity of them can also vary between each person. Usually, signs start to appear between the ages of 12 and 15. Occasionally, they don’t appear until later on (aged 25 and over), and this is known as late onset FA, or LOFA. Generally, the later the onset, the less severe the symptoms and the better the prognosis.

The signs, symptoms and complications include:

(The symptoms in bold are the ones that Dan is affected by)

  • Problems with balance and coordination, causing wobbliness, clumsiness and frequent falls (these are usually the first neurological signs)
  • Numbness/ reduced sensation in the legs, feet and hands
  • Increasingly slow, slurred and unclear speech
  • Difficulty with fine motor movements such as buttoning a shirt, writing and eating.
  • Abnormal curvature of the spine (scoliosis)
  • Difficulty swallowing
  • Partial or total loss of sight or hearing
  • Fatigue
  • Muscle spasms
  • Involuntary eye movements (nystagmus)
  • Loss of bladder control
  • Heart problems, disease and failure
  • Diabetes- Type 1 (affects between 10 and 30% of people with FA)
  • High arches of the feet
  • Cold, discoloured feet and lower limbs

Dan was diagnosed with Type 1 Diabetes in 2003, when he was 13 years old. At that point, neither him nor his family had ever heard of FA. He had no other symptoms yet, so it wasn’t known that the diabetes was linked to FA. The neurological signs caused by FA began to develop when Dan was in his late teens, at around 16/ 17. It started with clumsiness and with him losing his balance and falling over. Dan started an apprenticeship as an engineer, and it was around then that his symptoms were developing, and becoming more obvious and troublesome. At work, he was trying to climb a ladder/ telegraph pole, but found it unusually difficult to coordinate his arms and legs; he knew something really wasn’t right. His coach noticed, and that’s when Dan realised he should go the doctor.

His first appointment with the GP triggered a 2 year process of referrals, tests and investigations to find out what was going on. Dan was eventually given his diagnosis in Autumn 2009, aged 19. That leads me onto the next part…

The bronze sign outside the National Hospital for Neurology and Neurosurgery.

How is FA diagnosed?

When someone with symptoms like Dan had goes to their doctor, they’ll usually have a general examination and maybe some basic tests like urine and blood tests. Then, they’ll either be sent straight to hospital/ A&E, or referred to a Neurologist (a specialist in the brain and nervous system). Due to the potential causes of these symptoms, it’s important to rule out things such as poisoning and brain tumours first. Then, they will usually have the following tests:

  • MRI or CT scans of the brain
  • Genetic testing/ DNA testing
  • Lumbar puncture (where a sample of fluid from your spinal cord is taken by inserting a needle between the bones/ vertebrae in your lower spine).
  • ECG (aka a ‘heart trace- an assessment of the electrical activity of the heart)
  • Echocardiogram (ultrasound scan of the heart)
  • General blood tests
  • Urine tests
  • Nerve conduction studies and electromyography (EMG) – tests used to assess the electrical activity in nerves and muscles

Is there a cure for FA?

As with many degenerative conditions, at the moment, there is no cure for Friedreich’s Ataxia. There is ongoing, and new research taking place, as well as several drug trials to try to find a cure. Treatment is currently based on managing symptoms, and treating any complications such as diabetes and cardiomyopathy/ heart disease.

Most people with FA will see several consultants regularly to manage different aspects of the condition. Dan currently sees:

  • A neurologist at the QE hospital, Birmingham
  • A neurologist at the National Hospital for Neurology and Neurosurgery in London
  • An endocrinologist for his diabetes at Good Hope hospital in Sutton Coldfield
  • An ophthalmology consultant at Good Hope hospital
  • He’s also waiting for a more recent referral to a speech and language therapist

Treatments can include physiotherapy, insulin for diabetes control, speech and language therapy, supplements for good heart health, and medications to ease symptoms such as muscle tremors.

What is the prognosis for people with FA?

Here are the facts:

The prognosis depends on a few factors including the age the person was when the disease started showing symptoms, the severity of symptoms and any complications or other illnesses they have. Around 95% of people with FA lose the ability to walk, on average within 15 years of the onset of the disease, and will need to use a wheelchair by the age of 45. Dan, like many people with the condition, uses a wheelchair most of the time, but when at home, he does walk, with the aid of a walker/frame.

Most people with FA survive until the ages 40-50, although life expectancy varies greatly, based on the severity of symptoms.

The most common issue (and the cause of death in 59% of people with FA) is heart disease. Those who have heart complications because of FA, tend to die earlier- on average, 17 years after the disease’s onset. People without any FA-associated heart problems live longer and survive, on average, for 29 years after onset of the disease. Dan has a echocardiogram every year, and thankfully, none of these scans have shown any issues or changes to his heart. Also, very reassuringly, his lovely consultant in London recently told us that they have people with FA living into their 70’s now, because they’re learning more about the disease and how to manage it.

Love, Laughter, & Friedreich’s Ataxia…

Dan and I on the train to London for his appointment with his consultant at the National Hospital for Neurology and Neurosurgery (December 2018).
Dan and I on the train to London for his appointment with his consultant at the National Hospital for Neurology and Neurosurgery (December 2018).

Dan and I try not to think about the future too much. We have so much to be thankful for now, and I feel so lucky to have found Dan. Naturally, when we started dating, some of the people close to me were concerned about my future with him. There’s no doubt, sometimes, I find it overwhelming. Sometimes, Dan and I have wobbles about it and get emotional (usually this happens after Dan has literally had a wobble, fell and hurt himself…). There are hard days, and sometimes I feel a sense of unfairness; I’ve fallen in love with an absolutely incredible man, but I have to come to terms with the fact that he has a degenerative condition, with no cure. But, all that it’s done in the end, is emphasise that I want make the most out of what time we have together. We have so much in common, spend so much time laughing, chatting and genuinely loving each others company…

At the beginning of our relationship, when some of my closest family and friends questioned my choices, I told them “I’d rather have a limited, shorter amount of time with my soulmate, and enjoy every moment, than to live a lifetime with the wrong person”.

That’s why we try not to dwell on the negatives, or get wrapped up the difficult moments of the past, or the ‘what if’s…’ of the future. Despite FA, other illnesses, anxiety and PTSD, we try to do the things we want to, take risks, and make every day count. Sometimes, it is bloody hard, but it’s been worth every minute together so far.

Love,

Becky

X

P.S. For more information on FA, other types of ataxia, up-to-date research, and for the incredible support that Ataxia UK offer, head to https://www.ataxia.org.uk/

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6 Comments

  1. Jodie Bell says:

    Well said, definitely have to make the most out of each and every day with them. It’s definitely difficult to hear concerned family members advise you but it’s a difficult situation that no one is able to understand unless they are fully in it. Lucky you found your soulmate X

    1. Becky270 says:

      Thanks Jodie! It is hard, but thankfully I am quite strong-willed so I followed my gut instinct- am so glad that I did! X

  2. Sinead says:

    I love reading this blog xxxx can’t wait for the next xxx

    1. Becky270 says:

      Thank you Sinead! 🙂

  3. This is so informative for those learning about their own condition or that of a family member. Thanks for your post, I am sure you have helped many people already with your kind information

    1. Becky270 says:

      Hi Caroline. Thank you, it’s great to hear positive feedback. I really want the blog to be helpful to lots of people, so it’s fab to hear that people think it could be. X

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