Our Stories

Tarryn’s Story

Hi, my name is Tarryn Holland and I have Pompe disease. Looking back I believe that I displayed symptoms of this disease from quite a young age, always falling over, not very good at any sports, always the centre of the jokes about how clumsy I was. However during my final year of high school in 1997 when I was 17 I decided to be a good Samaritan and donate blood, it was from this blood donation that I received a letter saying thanks for the donation, but no thanks – there was something wrong with the enzyme levels in my liver. This of course led to many tests.

For the next 12 months I had a blood test every fortnight, a liver biopsy & a small bowel biopsy all which led to me being told that the doctors did not know what was wrong and it was ‘just the way I was’. At this point there were no real noticeable symptoms (aside from my clumsiness) so I continued to go about my daily life.

Two years on whilst living in Germany I could no longer run and was starting to have a great deal of difficulty with getting up stairs. Returning to Australia at the end 2002 I immediately went to a Dr and was again told that they could find nothing wrong. By the beginning of 2005 I was very slow in my walking, could not walk far distances and could only get up stairs if I was bending forward and using my hands on each step again I went to the Dr and was told that at 88Kg “I was too fat” and if I lost weight I’d be fine. Being a young woman I took this to heart and went on a strict diet as obviously I could not exercise very well! I got down to 68kg and of course I was still having all the same problems.

“By this time I had given up hope of ever finding anything really wrong”

I continued on with my life slowly getting worse, occasionally seeing different physios or doctors but no one ever picking anything up. It wasn’t until 2010 when I had severe back pain and my job as an early childhood educator was being affected as I could no longer get up off the floor easily or pick up the children that I went to see a chiropractor who finally recommended I go to my GP and get a referral to see a neurologist. Finally a breakthrough! From this point I again had numerous tests including EMGs, ECGs, MRIs, blood tests and finally an extremely painful muscle biopsy which required going under general anaesthetic and a large incision being made in my calf and led to not being able to walk properly for a month and an infection. From here though in December 2010 – 13 years after my first lot of testing I finally had a diagnosis! Perhaps not a diagnosis I was hoping for but a diagnosis none the less!

 

Diagnosis or not, Pompe has had a large impact on my life over the years. It’s not only just the big things but the small things – things such as being a 32 year old woman and being terrified to join mothers group when you have had your first baby because you are not sure that you will be able to get in and out of the chairs at the centre where it is held and don’t know anyone well enough to ask for help. Not going out to dinner with close friends because they have chosen a restaurant that has toilets that are upstairs and too hard for you to access. Not being able to engage in any sport or recreational activity including something as simple as going for walk down to the local shop. Not being able to carry my baby around outside of my own house for fear of tripping on some slight incline or step and falling and hurting her. It really is the simple things for everyone else that start to become a major production for someone with Pompe. This of course does not only just affect me but also my family as we can never be spontaneous or do activities as a family together such as take walks, ride bikes or go to the beach.

It often feels that my rare disease is in control of me rather than the other way around, especially when I have to make decisions about my life based on my Pompe, decisions that lots of others take for granted. Things like can I continue to work in the job I love? Can I have children? Can I travel to visit my family interstate by myself? – The answer of which is no, particularly with small children. Pretty much every day brings a new discovery of something I can no longer do.

“For me the support of my family and friends is a great help in living with a rare disease”

It is their unconditional love & patience that makes my bad days seem bearable. However, living with a rare disease is something that no one (except other patients) can understand. No matter how supportive family & friends may be one of the greatest supports you can have are other patients. Other people who get it. People who really understand what it is you go through on a daily basis, people who you can ask questions of and compare notes on how you feel without feeling embarrassed or judged. It is when connecting with these people I am thankful for modern technology as obviously having a rare disease does not always mean you have someone close by to talk to.

Looking forward to the future of living with a rare disease it is funny that my both my greatest fear and greatest hope are so closely linked – for me it is all about life & quality of life. The hope that my disease, with treatment, will not progress any further and I can enjoy the rest of my life watching my 2 beautiful girls grow into beautiful young women.

There is much that needs to be done to help people with rare diseases, particularly around raising awareness to the public and also medical professionals in order for early diagnosis and also correcting misdiagnosis to occur. Newborn screening is another aspect that would help in the early detection of Pompe disease. This is something I feel very passionate about as I feel that if I had been diagnosed even in 1997 when I was 17 and received treatment as soon as it became available perhaps my life would be very different today. I would hate to think that the same could happen to someone else, some young person at the beginning of their life, someone for whom it is not too late. Someone like my daughters.

Raymond’s Story

I was diagnosed in 2002 at the age of 52. Pompe is not a new visitor to our family, as my brother passed away at 54 years old, due to Pompe. When I was first diagnosed Myozyme was not available in Australia and it was very difficult to accept the changes that would be needed. When you have a disease like Pompe your world just keeps getting smaller as the disease progresses, in my work I would often travel overseas but as the disease advanced, that became impossible and then soon interstate travel also became too difficult. Then I noted that I hadn’t visited the local shopping centre for six months or more. The situation was made more challenging by the emotional barriers we as patients must overcome. Using a walking stick for the first time and then a wheelchair, what will people think. Now some twelve years on, if someone offers help with my wheelchair or offers other help, I accept it gladly. I may not actually need help that day but I may do next week.

I started treatment with Myozyme in February 2007, a day full of emotion. My neurologist, to limit my expectations, had said “if it stops the disease progression it’s a success” and he was right. I believe that having Pompe disease is about accommodating to the disease and finding a way to cope. Once the progression stopped, it was so much easier to accommodate to the disease.

“As the treatment continued, I started to feel better and regained some of my lost strength and wanted to do more”

It is a challenge to find that level of doing enough but not doing too much, something I have yet to understand and conquer.

I have now been having Myozyme treatment since 2007 and, my general muscle strength and lung capacity is still better than it was before I started treatment. Each infusion takes about four hours and I go for treatment every two weeks. I can still drive but I am limited as to how far I can walk, so I use a wheelchair outside the house. I am involved with a number of community projects and still keep in touch with my work colleagues, who I miss a lot.

Myozyme treatment has given me so much; I have a loving wife and daughter, it has given a very different outcome, to that we discussed, when I was first diagnosed. I have the greatest admiration for the team at Genzyme, a Sanofi Company, for seeing that they had an outstanding, life saving treatment and making Myozyme available to the patients in Australia, through a compassionate access program, while regulatory approval and government funding where sought and obtained in September 2016.

There is still more to be done to stop these tragedies happening again with babies born with Pompe.

“We need to have Pompe included on the newborn screening programs thought the country”

Three Pompe babies are born every year in Australia, to survive they need immediate enzyme replacement therapy. It just takes too long to see that a baby is not thriving and to then seek help. Newborn screening would ensure the best chance for so many young lives and save so many tears.

Catherine’s Story

I am Catherine, a happily married mother of two, my daughter Jaime now a young adult and my son, Will, nine years younger. I have Pompe disease. Those who know me will remember a very normal girl growing up, who like many others was not very good at sport, pretty slow at running and maybe a little clumsy.

I have always been a very active person in general and in my 20’s and very early 30’s would go out dancing all night with friends. I fell pregnant in 2004 and very slowly things began to change. Toward the very end of my pregnancy I started to ‘waddle’ and had trouble going up a flight of stairs but thought this would pass after childbirth. When Will was born in June 2005, I struggled to pick him up from the ground and then by November, I couldn’t get out of a chair without using my arms.

“It was time to get help”

After many tests from Neurologists, I was misdiagnosed with Danon’s disease which has no treatment. I would become wheelchair dependent, followed by lung, kidney and heart failure and, of course, premature death. As you can imagine, this was a lot to take in. I was immediately put in contact with Physios, Occupational Therapists, Orthotics and disability permits were applied for. After researching Danon’s disease, I just kept saying it doesn’t fit. I don’t have it. But there was no other answer for the next 9 years. In this time I have lost a lot of muscle and my legs have become very wasted. Doctors often say they are surprised I am still standing with such muscle damage. I can no longer get up a footpath gutter, pick up a piece of paper of the floor (can you imagine how many $ notes I have let go after falling out my pocket) and suffer from falls with no warning.

If you would like to put yourself in my position for a day, try not to go up a single step without holding on to something, do not buy anything in your supermarket shopping from the bottom shelf or pick up something from the floor without holding on to a bench top. It can be done and I do it very happily, but it does make your think about every move.

In 2012 my neurologist asked me to take a test for Pompe disease, a simple blood spot test. I goggled it first, found out that there was treatment to halt the progression and then prayed like mad in hope that I had it. I have it! 6 months later I was approved to go on Myozyme, enzyme replacement therapy, and I have enzyme infusions every 2 weeks that take around 5 hours.

“This has given me a new chance at a long life”

Already after 6 months, I had increased my walk tests, have had improvement in lung function and have much fewer falls than before. There are now around 50 friends just like me here in Australia that I can talk to regularly with the same struggles. I want to make sure you all know I live a very happy and full life. I am very involved with my children, family and friends and together with my husband Jason, run a successful confectionery manufacturing business.

Yes I have struggles, but I know many people do in all sorts of ways. The only thing I can honestly say I miss is being able to dance with my friends but with hope, you never know! I want to share my story with the world because I believe there are more Pompe People just like me that are still undiagnosed and a simple blood spot test may be the answer.

Don’s Story

Hello, my name is Don. I am 50 years old and work as a Science teacher.

I was diagnosed with Pompe disease in late 2015 after a year or so of going from specialist to specialist as they tried to explain my neck and lower back pain. I was very fortunate that I found out of my condition after the Australian government had decided to fund ERT with Myozyme, under the LSDP (life saving drug program), in October of 2015. This was made possible by the hard work of the Australian Pompe Association and the tireless efforts of the late Helen Walker.

After the initial shock and relief of knowing why I felt the way I did, it was reassuring that there was something available.

“I think everyone who finds out they are ill is reassured by some hope”

I contacted members of the Australian Pompe Association when I first suspected my condition and they have been an invaluable asset and support ever since.

While I waited to get approval for treatment I researched and read every scientific paper I could get my hands on…and it is then the rest of my life made sense. While I was quite a strong swimmer, when young, I could never run as fast as the better runners and was always a defender on the soccer field even though I felt I would make a good striker. In my late 20’s my liver function tests always came back slightly abnormal and most doctors assumed it was “just the way I was” and nothing to worry about.

It was not until my mid 40’s that I noticed walking up stairs was not as easy as it once was, I would also become short of breath easier when exercising but I put it down to getting old or being a bit lazy.

Today I attend the gym at least 3 days a week, as I have done most of my life, making sure I get in as much aerobic exercise as I can by cycling and walking. Diet is also important but I still treat myself now and then.

I have been on Myozyme for over a year and feel as though I have stabilised and have not deteriorated much. Being a teacher, my job is very demanding and physically tiring as I talk for a majority of the day and am rarely sitting.

“I hope to work for as long as I feel I can do the job justice”

Today I am very careful when I walk on wet surfaces because a fall could mean immobility, which is not good for someone with Pompe disease. I encourage anyone who has tests/symptoms that do not seem normal to NOT blame yourself and put it down to age and do everything you can to find out why. For me it was a simple blood test.

Nicola’s Story

Hi my name is Nicola.  I have 2 little boys with Pompe disease who were born in 2012 and 2014.

I noticed my youngest son wasn’t walking properly, he was 18 months old and would get up off the floor by walking his hands up his legs. He had a waddle when he walked and his spine was curved with his belly pushing forward.  I knew this wasn’t right as I never saw this with my oldest son.

We went to see our paediatrician with our youngest son and they tested ck level and it was high it was 2000 and normal is 300. Doctors thought it may be Muscular Dystrophy but they were confused as MD ck levels are normally 20,000 and higher. After months of blood tests and uncertainty we ended up doing a muscle biopsy and it was conformed it was Pompe.

“To say we were devastated is an understatement”

You always want the best for your children, but at the same time we were relieved that there was treatment for Pompe  This in our eyes meant there was hope.

Our oldest son had to then be tested and he tested positive.  This was a real shock as he doesn’t have any symptoms.

As of mid 2017 both boys have been on ERT for a little over a year and I must say I’m extremely happy with the results. Our youngest is receiving hydrotherapy and physiotherapy once a week and is getting stronger every day. He still finds stairs challenging but he gives everything a go. He can run, jump and skip. Our oldest still has no symptoms.

“Both my husband and I are positive people”

Yes, we have our days when we think why?! Life can be very unfair sometimes but what keeps us going is the “happy” life we are giving our boys and the endless love we all have for each other. No one can ever take that away from us.

I try to not think too much about the future just live for now. Surrounding ourselves with supportive people has helped us, together we are strong.

Leanne’s Story

“Enough is enough”

Those words were the catalyst, those words represented the change in direction that my life was about to take. All the events in my life that hadn’t been making sense, all the subtle changes that had been happening which I had been gently pushing to the back of my mind and living in a state of hope and denial, little did I know at the time how my life’s picture would play out.

My husband, noticing difficulty that he perceived I was having in maintaining my fitness and the more frequent horse falls that I was experiencing, even with my walking being expressed in my body’s movement. After many failed attempts of visiting my local GP to get him to look closer, my husband contacted a doctor friend of his in Bendigo which was around about 3,700km from where we lived and arranged an appointment for us to go on a trip. It didn’t take him long to confirm what my husband and I had silently been watching, there definitely were areas of concern in the test results which he gathered through the appointments, mainly my CK Enzyme Levels and Liver results were through the roof, I also had some digestion issues so the doctor’s first response was to set up an ultrasound, the results of which confirmed that I had gall bladder issues and that the gall bladder needed to be removed immediately.

“I felt like I was on a roller coaster, on the ride but not in control of the speed or direction”

I continued to work through this whole process, I am the Financial Controller of a large Civil Construction Company and had learnt to work in a pressurised environment so you can imagine my concern when one morning while at work I became ill and in fact collapsed resulting in me being rushed to hospital where the gall bladder surgeon met me and proceeded to evaluate all my symptoms, his evaluation was that the gall bladder produced its own specific symptoms and that what I was confronting was well above and beyond the potential consequences of a dysfunctional gall bladder. I was then introduced to another specialist who analysed my list of symptoms and requested a muscle biopsy as well as a multitude of different tests.

The time it has taken to get to this point seemed to go on forever, the mental anguish seemed unfathomable, your mind automatically goes on a journey of self-diagnosis, never ending “what if’s” and all sorts of distorted fears and insecurities. I had asked myself continually why it had taken me so long to try to diagnose or determine what was going on with my body.

Each one of us who finds themselves confronted with experiences that challenge our perception on life and the rules and expectations we each live with, will inevitably find ourselves chasing our thoughts, questioning our actions, challenging our choices or in simple terms trying to understand “Why”, “Why Me”, “What have I done to deserve this” and finding ourselves spiralling on a course of worse-case scenario considerations.

During my internal hindsight evaluation’s, I realised that I had had an accident which had camouflaged the real cause of my body’s deterioration and had allowed for me to live in a state of hope and denial. You see I love horses, and I’ve always loved horses and my love of horses led me to play a game called “Polocrosse”. This sport enabled me to combine my love of horses with my love of being extremely fit. You would possibly understand that of all things that a human being is able to do with a horse, falling under a horse, or having a horse fall on me was not one of the most uplifting experiences I’ve ever had. What I did experience as a result of this accident was the break in my pelvis in four different places. This fact was the very fact that allowed me to explain away to myself and everybody else why my walking and movement had become so difficult.

After around 12 months of visiting many different specialists and trying to find out what was wrong with me, I remember it was around 7pm in the evening, my husband Ray was still not home from work and I was still working from our home office when the phone rang, it was my specialist, he was going on holidays the following day and had gotten the results from my muscle biopsy and wanted to tell me before he left.

Now there was no warning for what came next, he started talking and out came the words “Myofibrillar Myopathy”, he asked me to go onto the computer and “Google the disease”. His information relating to this disease had been sourced from the same website that he had me reading from, he was reading to me directly from the website which he had obviously not studied when he came across and spoke the word “fatal” and then suddenly paused as he read t it, realising the meaning of the words just as he read them to me. He went onto say that it was not a good idea to pursue having children as there was a good chance that we could pass the disease on and then went on to say there was no “treatment or cure”. He then advised me that he was going on holidays tomorrow and he suggested that I make an appointment when he returned in a few weeks’ time. Within seconds and without any reassurance what so ever he was gone leaving me sitting in the room in total shock, I just sat there reading the website over and over in a state of complete of disbelief of the outcome of months and months of searching. I was overwhelmed and I cannot describe the depths of pain and anguish that I confronted that evening.

“As time went by I knew something wasn’t right, it’s a knowing, I can’t explain it, it’s a sixth sense”

This knowing was confirmed when I went to see a clairvoyant who without any word from me and without any prompting proceeded to inform me, “that I had seen a neurologist and if it were up to him he would have put me in a coffin and nailed down the lid” she then stated, “that she could see a blockage and that something wasn’t getting through”. She finished her statements by saying that I had been misdiagnosed. Now this had been approximately 2 years after my initial diagnosis and against all the other information and guidance that I had been currently obtaining. My diagnosis was not sitting comfortably with me, because my symptoms did not align with the apparent symptoms associated with my diagnosed disease.

We requested a re-diagnosis and contacted the Professor in Melbourne who had studied my muscle biopsy and nerve conduction tests and had gathered all the information and had concluded I was suffering from Myofibrillar Myopathy. The basis of our request was that the symptoms that I was suffering were at complete odds with the symptoms generated by a person suffering from my diagnosis. This was denied. The professor would not revisit her evaluation as she felt her first evaluation was correct. My husband then proceeded to get on the phone and informed this professor in no uncertain terms that he would take his wife to the Mayo Clinic in America and seek once and for all to get a diagnosis that explained all my symptoms and suffering. This was not our preferred choice, however we would not sit back and allow this experience to continue the way that it was. After a few phone calls, finally an appointment was made for a Neurologist in Melbourne to examine me, the results of his physical examination were that I was not suffering from Myofibrillar Myopathy. The relief that I experienced was palpable, I cannot describe to you the joy that I felt and the release of the anguish that I had built up over 2 years of living in a state of mis-diagnosis. The neurologist requested that I return as soon as possible to Melbourne to undergo examinations and tests overseen by a team of specialist doctors. Little did I realise that on the day of the appointment I was informed that the doctor would see me now and I was ushered through a door and into what seemed like a coliseum. The room was filled with over one hundred doctors, trainee doctors, specialists, neurologists, surgeons and the professor who had originally made my mis-diagnosis. Talk about confronting and intimidating, I was terrified. Questions after questions, stand up, sit down, explain my journey, it seemed to go on forever until a man on the right had side in the front row stood up and said I think I know what you are suffering from, “it is a disease called Pompe” and we can verify this by a simple blood spot test and with that stage 1 of my journey was complete. That uneasy feeling was gone, my diagnosis whilst still confronting and scary but authentic, it was accurate and was right.

“The doctors then informed me that Pompe was treatable however no treatment was available in Australia at this time”

I only have words, the Queens English to somehow give everybody who reads this short story an understanding of my journey, what I have probably not been able to clearly express was the amount of pain, anguish and the intensity of the suffering that was contained through this period of time that went on for a torturous two years.

To give you a further understanding of my journey I must share with you the pain associated with now understanding that my two older brothers who have both passed away with what we now believe had been the Juvenile Onset of Pompe Disease.

A lot has happened on my journey between when I started and where I now find myself. I am proud to be able to say that I am no longer scared, that I have developed, and that I have learnt. I’ve met dozens of whom I now call my “Pompe Family” from all over the world, I no longer feel alone and I cherish the friendships I have made through our Australian Pompe Association and through Facebook, even though we are all over the world, we can all communicate daily and share our experiences.
I live every day with passion and purpose, whether that be the hours I spend at work, or the time spent with my horses, or on the quad bike with my camera, hiking with my dogs or just spending quiet times with my husband.

Every day brings us a day closer to finding better treatments and helping to bring more awareness within our medical professions and community. Our Association is now working on New Born Screening becoming available in Australia, earlier diagnosis is paramount for a new baby’s survival and quality of life, I pray this day is not too far away.