Isabel Alfaiate comes to us from Portugal. She has a form of Ataxia known as SCA3, but we’ll let her tell you more about it.
In 2007, at the age of 53, I began to occasionally experience loss of balance. It seemed to be after meals or at the end of the day. I never paid much attention to it and thought that after a good rest I would be fine. Never at any moment thought that it could be the beginning of MJD (Machado-Joseph Disease or SCA3) although my father and his older sister had it.
I worked in a library and one day was showing someone a book and almost fell over her. She asked me if I was alright and I said it was a drop in blood pressure. I did not know but this lady was a neurologist and straight away she said this is something else and arranged lots of tests. I was not told exactly what it was but that I would soon need a wheelchair and arranged that I would be cared for at the Coimbra University Hospital.
My immediate reaction was I will see no more doctors and I can cope. I still did not link these symptoms to the disease my father had. For about a year I came nowhere near a doctor and was able to work hard, despite the occasional loss of balance. I joked about it saying to my colleagues that they had to drink to walk like me and I managed it without drinking. This still did not ring a bell that there could be a connection to my father’s disease.
I still managed a full-time job and managed very well. I walked around, went on business trips by myself although sometimes I did feel dizzy and lost my balance. I began to choose my shoes carefully. I began to use an umbrella for support if I felt a little dizzy.
We are now in 2010 that year I had been rushed to emergency with my left side numb and it was only anxiety. My work was very stressful, with lots of deadlines and the volume was very high. One evening for no apparent reason I fainted, I think now it was indigestion because when the ambulance crew carried me out of the building and into the ambulance, as soon as the cold air hit my face, I brought up everything I had eaten. For some reason, they thought it was my heart. That week I had done an Electro Cardiogram also my records at the hospital indicated possibly a heart problem. I was rushed to the hospital and put on a heart monitor and there was nothing wrong. A neurologist was called and he quickly picked up the problem. I had difficulty walking out of bed and failed the neurological tests he did. I was sent for a scan and although he did not confirm any diagnose began to ask me about my ancestors and their diseases. When discussing why I had not come to consultations, in the last year as proposed. I told him that I was in negation. Secretly I knew this was the disease my father had and perhaps thought that if it was not diagnosed, it would go away. He told me that my father was over twenty years ago and since then there has been a lot of progress in the Medical field. He admitted me into the hospital and did a lumbar puncture, eye test, and genetic tests.
It was diagnosed and I was informed I had MJD or SCA3 a genetic disease that I had inherited from my father. There may have been a lot of progress in Medicine but there is still no cure or ways to stop its progress. There is a lot of studies and research and hopefully someday there will be a way of stopping the progress or even cure.
My symptoms and questions
My father must have been in his early fifties when his gait began to get affected. At first, the whole family thought he was drinking. He would deny it, but we did not believe him. Sometime earlier he had a minor car accident and doctors said his difficulty in walking had to do with his spine and he was subjected to surgery. When he was able to walk again, it was the same. He progressed from having imbalance to walking with 2 canes then a wheelchair and eventually to being in bed.
We were told that this disease affected only boys and that the boys in our family should be tested. There were only 17, 10, 7, 4 and 2 year old boys in the family. The 17-year-old decided that he did not want to know and we left the others untested. Now we know better, it can affect any descendant of the person with the disease. My father had 3 daughters; my older sister is not affected. I am told her children are also free. I lost my younger sister to a stroke before the age that symptoms would appear so we do not know if she had the disease. So we are not sure about her three boys, living in South Africa.
My father was a very quiet person, he never complained. I only know what I saw. I wish I had questioned him more. I do not know if he had pain if he was dizzy. I only know he gave up. Or at least it did not appear that he tried. He seemed to be quite happy with my mother dressing him, feeding him, and so on. I think he accepted that this was how it had to be.
I have an option to do nothing accept my limitations and follow the course of the disease. Or maybe I can choose to do something positive. I can look at any achievement and celebrate those, count my successes instead of focussing on my difficulties. Choose to be happy instead of sad, victorious instead of a victim.
So I may have to do things a different way but I will achieve the results I want.
“We learn to be happy when we realise that being sad is a waste of time” (anonymous)
We are in 2016 by now the disease had progressed. I have now to focus on my limitations just for the sake of explaining physical wellbeing.
My legs felt very heavy, I shook a lot standing, I was not using a walking stick because I am stubborn and determined not to send the message to my brain that I now have that need. I am a translator and type well, so that has never been a difficulty. I was not only losing my large motor coordination but also my small motor coordination. My handwriting was unreadable. I decided to crochet to work on that, it is therapeutic as well as being useful. I have crocheted lots of beautiful things. It had been deteriorating for a while now. At home, I walked around but would often resort to walls and furniture for support. Bathing was not easy, I got tired quickly, and drying me was done in stages. Holding on to basin and then sitting to dry myself. Walking outside was always done holding on to somebody. I was unable to stand without swaying. When lying on my back with my knees bent I was unable to move one leg while keeping the other still.
For some reason (nothing to do with ataxia) my left knee was swollen. I had a routine visit to the neurologist and showed him my knee. He told me what I already suspected, it had nothing to do with ataxia and that I maybe should see a rheumatologist.
Maybe this is not good advice, the doctor knows best, but I decided that I should exercise my knee and went to buy a mini bike to do that. My stubbornness to take care of myself and not see many doctors. In Portugal, I think people go to the doctor all the time, and take too much medicine. I try to avoid medicine at all costs.
Within a week the swelling had gone, my knee was not sore anymore but I had side effects, my legs were stronger, I no longer shook when standing. I could stand still, dead still, without any swaying. Here is a blessing I can count. My legs felt lighter and I realized I had improved the muscle strength. I had researched all I could about ataxia, focussing especially on treatment: I read all about Dr. Tom Crouse in http://walkingwithataxia.com/ and decided that I should ask the neurologist about physiotherapy.
In May this year, I asked the neurologist for physiotherapy and she sent me for assessment and physiotherapy as recommended.
At that consultation I rated 13 on the scale, I had rated 8 the previous November, and she told me I had got worse. Not what I wanted to hear. So I decided that is her opinion, I can choose to accept it or do something to prove her wrong. There is no harm in trying, I may not be successful but on the other hand, I may be, so why not give it a shot.
I have always heard about the plasticity of the brain. That is the reason for the recovery of functions in stroke patients. If that is the case why not try. I was given the go-ahead for physiotherapy and started in August. I saw a physiotherapist, who recommended 20 sessions, he suggested daily for twenty days, but I wanted to have the greatest benefit from these and asked to have these shared at the rate of two per week, so that I could repeat the exercises at home. I did just that, attended the physiotherapy and repeated the exercises daily on my own
I was amazed at the progress. I went to the Iberian meeting on ataxia, where they spoke on the benefits of cycling for ataxia. There was also a talk on the benefits of exercise. At that meeting, I saw the neurologist whom I had asked for physiotherapy and who had rated me 13. She told me she could see improvement, I was walking much better. The day after the meeting there was a walk, bike ride, wheelchair to raise awareness for the disease. I walked with a friend (healthy) and did 3Km, unthinkable just a few months before.
The next day was my routine consultation with a new neurologist, the one who had been following my case was transferred. She assessed me again, I told her all I had been up to and she agreed and confirmed I had improved and told me that the records in my file showed a rating of 8 in November and 13 in May and now I rated 6. It was amazing. PT was not normally recommended in ataxia, but she was very interested in this case and would recommend it from now on to other ataxia patients.
At home, I walk around easily only occasionally needing to hold on to furniture.
I now find it easy to do my personal hygiene, I now am able to stand unaided dry myself, bend down, and dressing standing freely. Previously I did all that sitting. I do have a stool in the shower and like to hold the shower in my hand because that is more comfortable to wash my hair and also I am not scared of slipping. House chores were difficult. I was unable to clean the bathrooms except for the washbasin. Anything that required me to bend was impossible. Now I am able to do it all. In the kitchen, I had no difficulty doing dishes or cleaning the counters, but bending to pack the lower cupboards or sweeping or cleaning the floors was out. Now that is also easy. I feel stronger but also with more energy. Ironing was another difficult task because I would get very tired quickly. I could not stand for any period of time, now I have been able to iron for 2 hours or more easily. I look after my six-month-old grandchild. Previously I sat on my office chair and picked him up from the pram on to my lap to feed then back in the pram, then I would sit on the bed and pick him on to the bed to change him. I would never hold him while standing. Now I am able to pick him up and take a few steps to the bed and then back to my chair. I have even managed to carry him from the kitchen to the bedroom, for his safety with my husband next to me just in case. I feel more independent now. I am still driving short distances and manage well in shopping malls, I still sway, like I say we can’t always go forward in life, in my case I also go sideways but I will get to where I want. Grocery shopping is easy, I have the trolley for support. When I am tired in the shopping mall, I take a coffee break.
This is a question of attitude, I believe I can, maybe I have to do things differently, but I can and will adapt as required but I will never give up. I believe that 90% of all illness is in the mind and only 10% in the body. I believe too that we can control our thoughts. No one but us can think in our heads.
I take no medicine, the neurologist did give me antidepressants and muscle relaxers, I did not even take the muscle relaxants, I took one antidepressant and that knocked me out I could not even get out of bed and was sick, bringing up, I am gluten intolerant and it may have been that. So he has told me to take Vitamin E morning and night.
I take vitamin E (Biofil) Magnesium for cramps. At the ataxia meeting they mentioned coenzyme CQ 10 and folic acid, I asked the neurologist and she said it may help, certainly, it is not harmful, so I take those as well. The fish tablets (omegas) are great for the brain, so carry on with those.
I think speech therapy is good, I am not doing it but I know others who is and it is helpful. I was told to continue on a gluten-free diet because it helps, in my case I was already on a gluten-free diet because I was gluten intolerant. I do feel less stable when I eat something that may have a little gluten and also with sugary goods. I was taking an antihistamine for allergies, and someone told me to eat low histamine foods and it has definitely helped. For now, I focus on all the good things I have.
In April 2018 my grandson went to nursery school and I no longer needed to look after him full time, but I have been able to look after him every day for the last three years.
In October 2019 I began to take the formula for ataxia and in February 2020 the formula for equilibrium. The soles of my feet and toes no longer feel numb, I do not choke anymore (in the past I would choke on my own saliva), my rhinitis and allergies are way better.
In December 2019 I joined a gym and do an hour three times a week and physiotherapy the other two days. I also have a personal trainer working with me for one hour a week. I do not seem to feel dizzy anymore. I do still have balance issues but am able to stop falling as I am much stronger and am able to stop the falling action. I started Shiatsu in February 2019 and it has made a world of difference to my wellbeing. I now take Ergymag, vitamin E (both on and off) and the formula for ataxia, and the formula for equilibrium (both I got from the Brazilian forum – ataxias – tratamento com hemeopatia)
I saw the neurologist of the Coimbra University Hospital on 27-02-2020 and for the first time in four years she said my condition had improved. They are including me in a European study on the condition. I feel they focus on the rate of deterioration, but I wish they would pay more attention to any improvement or show me ways to improve. I am practicing the tests they put me through at home and to their disbelief, I am passing these with flying colours. My one aim in life is to contradict their expectations, I have decided not to fit their standard. To improve my fine motor skills, I am crocheting, and playing a board game where I am required to place pins in holes. I am also playing memory games and have no loss of memory. I still speak well, do translations, and cognitively have no problems, my only issue at the moment is equilibrium, but I am working on that.
Below are samples of my handwriting:
1998 before I even thought I may have ataxia. 2013 my handwriting had deteriorated a lot between 2007 and 2013. And January 2019 shows great improvement. Today if I am relaxed I can write nicely. That proves to me that working at my deficiencies helps (05-03-2020 saw Dr Glória) I still walk around the house unaided and outside holding on to somebody, more for direction than support.
Thanks for sharing your story, Isabel Alfaiate!