Teresa’s story: how ALS changed my life

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‘During adversities I always try to see the good side and to see why things happen…it’s just a characteristic I have.’

Meet Teresa from Portugal. Spending years as a caregiver, she became an integral part in setting up the Associação Portuguesa de Esclerose Lateral Amiotrofica (Amyotrophic Lateral Sclerosis Portuguese Association, or APELA). 

Now her story begins.
Teresa had a pleasant life with family and friends. Her husband was an active person who would take the jeep for a spin, or hop on his motorcycle to drive around the countryside. Then one day everything changed. After experiencing leg cramps and muscle spasms her husband visited his doctor. They were referred to a neurologist who said, ‘You have a neurological degenerative disease that has no cure. We don’t know the reason for this disease and you will probably be in a wheelchair in a year and will not walk again.’

Her husband had amyotrophic lateral sclerosis, more commonly known as ALS or MND (motor neuron disease). They were devastated. ALS is a progressive disease affecting the nerve cells that control voluntary muscle movement. Over time the muscles weaken and waste away making it more and more difficult to stand, speak, swallow food or even breathe.


Expectations and frustrations

After reading more about the disease, Teresa came to the conclusion that ALS patients at that stage typically had a 3-5 year life expectancy. However, her husband would survive another 11 years and she would stand by him till the end.

Teresa:
I was 39 years old so I thought I could just put my life in stand-by and treat him, then resume my life afterwards. And that’s what I did, it was a decision I made. […] The first two years of the illness were very difficult because we did not have time to get used to one situation before we had another one to adapt to. […] He was very upset about the situation…he was a perfectionist and not being able to do things, it was very complicated.


Patients go to the limit of their abilities

Her husband continued to work for as long as he could. Even when he could no longer walk, he still drove. ‘This is normal for patients like him,’ Teresa said, ‘they go to the limit of their abilities.’ A that point eating became very difficult and it would take two hours to feed him lunch. Eventually it became necessary to use a feeding tube. There was a complication while placing the feeding tube, and her husband had the choice between being tracheostomised or to die.

Teresa:
It was horrible for me, it was a like bucket of cold water and I remember that I cried so much with the doctor and told him that. I did not know if he would want it…. I never talked to him about the disease, we never talked about how things were going, we always lived day to day, as normal as possible.

[He] asked me, “If I do the tracheostomy will you stay with me?”, and I answered, “Of course. Do you think I stayed with you these two years only to leave you now? Of course I’ll stay with you.” And he said, “In that case, I want to do it.” It was a very special day for me because I don’t think I had heard my husband say that he loved me for years, until I heard it that day. After telling him that I was staying with him until the end, he said that he loved me and I think it was worth it just for that.


A day in the life

Teresa:
Normally he liked to lie in bed in the morning, he had a television in the bedroom, so he slept and watched a lot of TV. There was a lady who used to help me out in the house with housekeeping, so I used to take this little bit of the morning and I would go out for a little while, which was never too long. I would get up between 7 and 8 am, check his airways, [take care of his] hygiene, and give him breakfast. I’d then leave home at around 11am or noon, and the maid would leave at 1pm, so I’d go out for about an hour. Often rushing everywhere and sometimes I wouldn’t even go out because it wasn’t worth it. If I did go out, it would be for trips to go to the pharmacy, to the supermarket and to visit my mother and be with her for a while, because otherwise I couldn’t spend time with her.

Then at 1 o’clock the maid would leave, and it was me who stayed at home. I would lift him from his bed, dress him normally (he never stayed in bed, he didn’t want to), shower him twice a week, give him lunch and in the afternoon we would be there, at home. He was on the computer, he had a specific program that worked with his eyes, and he liked to go to Facebook, read the news, watch a movie if there was one on television that he liked. And I would stick around. At first I had a little more availability because I did not have to be next to him all the time. In the last two years I could not leave his side. The fact that he was so sick for years meant that his eyelid muscles themselves were tired, so he couldn’t blink as easily, which made it hard for him to use the computer. So I spent afternoons leaning on his armchair to click enter on his computer. I spent afternoon after afternoon like that.


At the end

Surviving much longer than originally thought, Teresa’s husband connected with an ALS patient group and became good friends with a fellow patient. This also gave Teresa some valuable perspective and comfort that she was not alone in this situation. Teresa’s husband was able to see his daughters grow up and after battling this disease for 11 years he passed away on Christmas day.

Teresa:
I had 33 people spending Christmas at my house…I let him watch TV, like he did every day and went to the kitchen. It was 12:30 and I went to him and said, “People are coming and you’re still like this?” Let’s get you ready! And he was dead, he’d fallen asleep, it was the most peaceful thing in the world. […] It had to happen, we knew it was going to happen, but no one expected it, of course, we are never prepared. But I think he chose a perfect day.


Looking back, would you do anything differently?

Teresa:
No, not for me. […] I don’t tell people to do things very differently from what I did, because these patients need lots of love and patience. [But] my body started to say, come on, you can’t take it anymore. By then I was physically very tired. […] It was me who carried him alone, who showered him alone, who moved him from the bed to the chair and from the chair to the bed by myself…. I started having heart problems. […] I am aware that I had reached the limits of my abilities and so had he. […] I felt that things had to end soon or something would go wrong and I would get [too sick to care for him]. […] What I say is to seek help because I never had anyone to help me.

I love someone who is rare

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Today is Rare Disease Day but rare diseases are not so rare at TheSocialMedwork. Many of us have been affected by rare diseases on a personal level and our colleague, Sera, is, unfortunately, no exception.


Q: Hi Sera, tell me about your dad.
A: My dad is strong, I really look up to him like a hero. He works in healthcare in Turkey and has taken care of many people in his life. He’s always been like that. He’s outgoing, social and super smart.


Q: How was he diagnosed?
A: In 2015, it was found that my dad had low blood pressure, but we thought it was a normal result of getting older. Then he had balance issues, which we thought was related to the low blood pressure. It turns out that he had had an embolism (blood clot) in his ear, so for a period of time he couldn’t see or even move his eyes because it hurt him and made him nauseous. By 2017, he was diagnosed with Parkinson’s because it has similar symptoms like slow movement, rigid muscles and poor balance.
By the end of 2017, he’d seen at least 10 experts who confirmed that it wasn’t Parkinson’s. Even among experts, it wasn’t easy to figure out exactly what he had. His disease is called Multiple System Atrophy (MSA), and is also known as Parkinson’s Plus Disease, Parkinsonism or, formerly, Shy-Drager syndrome.


Q: What do you know about about MSA?
A: It’s a rare neurological disorder and experts are still unsure of how or why it occurs. There is no cure. It usually affects adults over 50, my dad was 70 when he started showing symptoms.


Q: Since there is no treatment, what does he do to fight MSA?
A: He takes dopamine and other medicines to treat symptoms similar to Parkinson’s. That’s about 10 pills a day. The nutritionist put him on a mainly plant-based diet with no alcohol. He also has physiotherapy, massage and speech therapy four times per week.


Q: What kinds of symptoms does your dad have now?
A: Dad has an aggressive, fast-progressing type of MSA even compared to other patients. He can’t speak clearly anymore and his movements are uncontrolled; that comes and goes. He has a hard time digesting and shouts in his sleep without remembering why.


Q: There’s often a psychological impact related to living with a disease. How does it affect your dad?
A: It is rough because he was a really social guy, always meeting friends at the weekend, he was very active in the community and so. Now he’s always tired and can’t do everyday things like before. He’s not motivated and becomes emotional more easily. Only having limited mobility makes him feel like a burden. He’s anxious about what the future holds for him (from what he reads, it’s not good), and worries that he won’t be able to take care of his family.


Q: How does it affect you?
A: It’s really hard to see my dad like this. I feel like my hands are tied and I can’t do anything other than sit and wait. It makes me appreciate him more and not take this time for granted. He’s still my dad, my hero.

Bakr’s story: living with ALS in the UAE

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Meet Bakr. He’s a husband and father living close to Dubai with his wife and children. He’s also a tech-savvy sales manager who would often fly to countries such as Italy, Denmark, Turkey and China to attend conferences and work events.

Onset

In 2015, Bakr began to feel pain in his shoulder and arm. After some visits to the local doctors, they came to the conclusion that something was wrong with his shoulder muscles and suggested that Bakr needed surgery. However, even after the surgery the strength of his shoulder muscles continued to decrease.

Diagnosis

While visiting family in Lebanon in 2016, he consulted a physician and was diagnosed with ALS. Bakr and his wife had never heard of ALS before and went back to the doctors in Dubai for more information. They were shocked to find out that the doctors there knew little about this disease and could not give him further information, much less treat him. There was no one to turn to, no patient organisation, health foundation or medical specialist in or around Dubai. He felt helpless.

Help is available

So Bakr returned to the Lebanese doctor to receive information and medical care. He also began searching the internet for more treatment options. This is when he discovered our service. After contacting us and consulting with his doctor, he was able to access treatment intended to slow the progression of the disease.

Bakr today

After four years, Bakr is still walking and talking independently. He continues his work as a sales manager with the support of his company. Instead of flying across the globe, Bakr now works remotely in order to have the time and space needed for the daily care and treatments necessary to extend the quality of his health. He takes his medicine for 10 days, followed by 18 days of rest. In the meantime, he undergoes physiotherapy two to three times a week and exercises at home as much as he can. He visits his doctor every six months, and so far he’s only been scoring 4% less each time according to the ALS Functional Rating Scale (ALSFRS), and his doctor couldn’t be happier with these low numbers.

Peter’s story: Life goes on

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Meet Peter. He enjoys having a good work/life balance. During the week you’ll find him working hard in the medical industry, but in his free time there’s a high chance that you can find him on the golf green.

That was the case on a sunny day in November 2018. While taking part in a golf tournament something happened that changed his life. Peter reached for a bottle of water and realised that he was having difficulty removing the cap. Since this was a one-time occurrence, he didn’t give it another moment’s thought. However, on 7 January 2019, he couldn’t undo the clasp of a necklace and then it hit him like a ton of bricks⁠—something was wrong.

Diagnosis

Peter went to the hospital and got a magnetic resonance imaging (MRI) scan on his neck, brain and the left side of his heart. The scan showed stenosis, a narrowing of the blood vessels and spinal cord. After that, he was referred to a neurologist who then referred him to another neurologist who specialised in muscles. The muscle specialist ruled out problems with his neck muscles because the symptoms happened too fast. Then he was told that it could be either myeloma, neuropathy, or amyotrophic lateral sclerosis (also known as ALS, motor neurone disease (MND), or Lou Gehrig’s disease).

His doctor ran four more MRIs, a computed tomography (also known as a CAT or CT scan), a positron-emission tomography (PET scan), a spinal tap and a test for ‘something in the fat’. The final diagnostic was to put Peter on intravenous immunoglobulin (IVIg) to rule out infection. This immunotherapy consisted of three infusions of 1mg IVIg/kg weight over four days. Two weeks later this was followed by an outpatient procedure of three infusions of ‘super doses’ of 2mg IVIg/kg weight. The immunotherapy was tough and made Peter feel sick, however, it helped eliminate all the other possibilities.

The doctor then did an electromyography (EMG) to study the electrical activity of his muscles and contacted a specialised hospital. They confirmed that Peter indeed had ALS. To complicate matters, Peter found out that he also had smouldering myeloma, a pre-cancerous plasma cell disorder. Luckily, he had the less severe form so he was still eligible for ALS treatment.

The search for new ALS treatments

The deterioration of his left arm progressed rapidly, especially in the lower part, and within a month it had lost most of its function. Peter’s ALS specialist was kind and intelligent but very busy. It took a long time to reach his specialist or get a response, so in the meantime Peter contacted all the doctors he knew to find out as much as he could about ALS. He looked into the known ALS medicines and found an abundance of redundant information about the top two medicines available in the USA. Next, he began researching out-of-the-box treatments and even medicines for other diseases that could also work on ALS symptoms. Finding new ALS medicines was like swimming in an endless ocean. How do you find what you don’t know you’re looking for?

‘Once you find one [medical article or abstract on a drug] you can find a lot’.
Over time, Peter learned how to uncover the keywords that would enable him to search for new treatment possibilities. He found something on stem cell therapy, but for him it wasn’t justifiable because the researchers didn’t use embryonic stem cells. He also learned that medicines for Alzheimer’s and multiple sclerosis (MS) seem to work for ALS as well because the diseases follow a similar progression.

A light at the end of the tunnel

One particular medicine from Japan, ibudilast, was reported to slow the advancement of ALS. It was in phase II trials going toward FDA approval. Peter took this information to his specialist. ‘Doctors are conservative’, he said, and though his specialist was reluctant to speak about any non-FDA approved medicines, his specialist determined that Peter was eligible to use it and wrote him a prescription. Next, Peter had to find the medicine. Since it was only available in Japan, he contacted Japanese pharmacies who were not willing to send this medication outside of Japan, even with a prescription.

Peter went back to his specialist who referred him to our website. There he was finally able to get his medicine. ‘You have been the nicest people I’ve dealt with’, he told us. For our team, these words are priceless, because we know there is a very real struggle to access exceptional medicines, and every day we go through this struggle with the people we help.

Today

Speaking candidly, Peter said, ‘The drug only works on 30 to 35% of the people and there is no way of measuring it because you don’t get better. [Now] I have less fibrillations on my arm so that might be a plus’. Currently, he takes vitamins, does acupuncture and everything recommended by his specialist to slow the ALS progression and increase his quality of life. Although the drugs and the disease make him tired, his right arm and his breathing are still strong, and he can do most things independently—including regular visits to the golf green.

‘Everyone deals with these things on their own…If I was a doctor and someone came in with what I had, I would treat them for everything from Day 1.’ When Peter was diagnosed, the first thing he heard was that he won’t be able to walk or talk or do this or do that. ‘They treat you like you are going to die. Any website can tell you that.’ Instead he chooses to focus on preserving his health and continues to explore possibilities because (and I can’t think of anything more fitting to end this story than Peter’s own words), ‘All in all, life goes on’.

Fiona’s story: PBC, my mother and me

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In April our founder and CEO, Sjaak, embarked on a unique journey across the world to meet with patients, families, caregivers, patient organisations, doctors, healthcare professionals, healthcare innovators and medical teams. His third stop was in Taiwan where he met a woman named Fiona who had donated part of her liver to extend the life of her mother. Here is her story, written by Fiona herself.


Diagnosis

My mother has been suffering with primary biliary cholangitis (PBC), a rare autoimmune disease of the liver, for almost 40 years. At first, it was difficult for the physicians to diagnose my mother because she does not have anti-mitochondrial antibodies which are found in most PBC patients. It was not until 11 years later when the medicine, ursodeoxycholic acid (UDCA), was introduced that my mother was diagnosed with PBC.

Treatment

PBC has no cure to date. The existing treatments, UDCA and obeticholic acid (OCA), are developed to slow down the deterioration of the liver function.

For decades, while undergoing treatment with UDCA for most of this time, my mother gradually progressed from liver scarring, to fibrosis, then to cirrhosis. A few years ago, she started to show signs of ascites

in her lower limbs. We knew that it was time for liver transplantation surgery. I donated 60% of my liver to my mother. Thankfully our surgeries went well.

Following the surgery, however, my mother’s PBC recurred. UDCA worked well on my mother for a while until very recently. As UDCA fradiallu failed to control my mother’s PBC like before, we knew that we needed to resort to Ocaliva (OCA) quickly in order to save my mother’s liver graft.

Help is available

We sought the help of TheSocialMedwork immediately. With the professional and speedy assistance from TheSocialMedwork, especially Dr Aysen Simsek, my mother’s doctor and I were able to finish the paperwork within four days, and we are now waiting for the delivery of the new medicine*.

I highly recommend TheSocialMedwork to anyone in need of new medicines. TheSocialMedwork understands our needs and treats us like family throughout our communications.

-Fiona, April 2019