Just a quick update to say my lungs are going well but I have had some other health issues, will write more in another blog post. Hopefully soon 🙂
In the meantime I thought I would add my speech from the recent CFSA ball:
Hi everyone, my name is Gen, and I’d like to share my story about living with Cystic Fibrosis.
I was diagnosed with CF at the age of 3. I was too young to understand what this meant, but it was a massive shock to my parents as nobody knew CF could be in the family. Back in 1989, my parents were heartbreakingly told that my life expectancy was mid to late teens.
Straight away this meant I needed to take many tablets each day, spend an hour a day with chest physiotherapy and have regular check ups at the hospital. My health was reasonable at first, but it got worse as I got older, and I started needing regular hospital admissions. I missed weeks of school at a time, due to chest infections, my digestive system, and even a stroke at the age of 7.
During high school my health declined, despite spending 6 to 8 weeks a year in hospital for my lungs, and having overnight feeds from the age of 12, in an attempt to help me gain weight. This was also when I realised what CF meant, as I saw many of my friends, who were the same age as me, becoming sick. Sadly many passed away. I hoped that I was a long way from needing a lung transplant, but my uncertain future and the realisation that I was not going to live as long as my friends was impossibly hard to accept as a teenager.
I worked hard to catch up work throughout high school, often to the detriment of my health, and through determination achieved a year 12 score of 99.6. This was then followed by uni, where I studied Biomedical Science, and then Physiotherapy. Despite my health continuing to decline, I was in the top 15% of both of these degrees.
I knew that a transplant may not be far away, so I always tried to do as much as possible whilst I was still well enough. This lead me to study in England, work as a ski instructor, teach English to children in asia and to travel and see as much of the world as possible.
My lung function continued to get worse and in 2012 it reached a very low 41 percent. To put this in perspective 30 percent is commonly when transplant is discussed. By this stage, I had been admitted to hospital over 60 times, which meant I had spent more than 3 years of my life in hospital.
I reached the point where I was puffed out with basic things like walking, spent hours a day on never ending treatments, and struggled to keep up with work and uni. I was very worried that my health would get worse with even a simple cold. At this point I was extremely fortunate to start a revolutionary medication called Kalydeco, which treats the underlying CF defect, helping 8 percent of people with CF.
The change with this medication was astonishing, within weeks I was back at 70 percent and my health was stable for the first time in my life. I stopped needing regular hospital admissions, and I have now been out of hospital for over 2 years, which is a 20 year record for me.
Kalydeco has allowed me to do things that I never thought I would be able to do, like visiting Machu Picchu, at a very high altitude, with no breathing issues whatsoever. Kalydeco has also changed my life expectancy significantly. I can now stop worrying that a transplant, or a life threatening chest infection is around the corner and instead think about having children and my career as a physiotherapist. I even need to think about superannuation.
The amazing changes that I’ve experienced first hand highlight the importance of research. Whilst I have been very lucky, sadly I have lost too many friends to CF, many that were younger than me. The reality is that for 9 out of 10 of my friends, there is no Kalydeco yet. We need research to occur as quickly as possible, which is one of the key areas that CFSA aims to support.
I feel extremely fortunate to have benefited from this amazing break through, in fact it feels like I’ve won the lottery, and I can be excited about the future for the first time in my life. And it’s with your help, that I hope my friends can grow old with me.
Happy 65 Roses Day everyone!
I plan to write an update about my health soon, but in the meantime I thought I would write about the Kalydeco situation in Australia.
Kalydeco is still not available in Australia, due to lengthy price negotiations between Vertex and the Australian Government. These negotiations first started over a year ago. This means Australia is now over two years behind the US and over one year behind the UK and Europe in terms of Kalydeco access.
We need Vertex to lower the price and we need the Australian Government to compromise on price. We need this to happen now.
For the last two years I’ve been very involved with #YesToKalydeco Campaign on both facebook and twitter. Many of us behind the campaign met for the first time in person in Canberra last Wednesday. Cystic Fibrosis Australia organised two events, a morning tea and evening cocktail event, aiming to raise awareness about Cystic Fibrosis & the urgent need for Kalydeco.
So after a very rushed birthday (I think I will celebrate this later when Keith is back from his trip to the middle of nowhere), I flew to Canberra for these events. It was an action packed day, with a morning tea, where we all met each other for the first time, spoke to several MPs about Kalydeco & heard from Peter Dutton the Health Minister, followed by a meeting with the senior advisor to the shadow Health Minister, then finding out that I was giving a speech that night, quickly writing my speech in about an hour, getting to the cocktail event and almost collapsing as I had a hypo pre speech (skulled some soft drink and luckily made it through!). The speech went really well, I was glad that I could let Peter Dutton know exactly how I feel regarding the Kalydeco situation, for a full 3 minutes!! It was also great talking to several other MPs that night, especially Senator Anne Urquhart & MP Ken Wyatt.
I’m sure the MPs that were present came away from these events understanding the urgency behind the PBS listing of Kalydeco. I’m very hopeful that we will hear the outcomes from recent meetings between Vertex and the health department in the near future & that soon they will agree on a price.
A real highlight for me was meeting everyone for the first time in person, after working together with the campaign for over 2 years!! I hope the next time we see each other is at a celebratory Kalydeco party!
I have added a copy of my speech that I presented in Canberra below. I spoke at Parliament House to the Minister of Health, Peter Dutton, several other MPs and members of the CF community:
Hi everyone, my name is Genevieve Handley and I have been extremely fortunate to have been on Kalydeco for almost 2 years, through the Vertex compassionate program.
Before I started Kalydeco my health was hugely unstable and my lung function was 41%. To put this in perspective 30% is commonly when transplant is discussed.
I struggled to keep up with work and uni, and had to spend up to 2 hours a day on exhausting, never ending, treatments.
For 20 years I had about 3 hospital admissions a year. This meant I had over 60 hospital admissions, equalling more than 3 years of my life in hospital.
Amazingly, Kalydeco has allowed me to stay out of hospital for almost two years now. This is a 20 year record for me. For the first time in my life my health is stable and my lung function is 70%.
I now spend less than 5 minutes on treatment per day, saving many hours per week. I am back at uni and planning to start working soon.
Kalydeco has allowed me to do things that I never thought I would be able to do, like visiting Machu Picchu, at a very high altitude, with no breathing issues whatsoever. Even recently, I have had some non CF health issues, but thanks to Kalydeco, my lungs have been stable. Previously, I would be in hospital, probably on oxygen, potentially not recovering.
Before Kalydeco I rarely thought further ahead than 5 years, in fact I rarely even committed to events for the weekend, as I did not know if I would be well.
Kalydeco has changed my life expectancy significantly. I can now stop worrying that a transplant, or a life threatening chest infection is around the corner and instead think about having children, my career, I even need to think about superannuation!
Having experienced what Kalydeco can do first hand, I know exactly how important it is that the 200 patients in Australia access Kalydeco now. Every day the decision is delayed, people are getting sicker. This is urgent, I have lost too many friends to CF, most in their 20s.
Peter Dutton and Members of Parliament, our lives are in your hands. Without Kalydeco we will die prematurely. Currently 90% of eligible patients in the world outside Australia have access to Kalydeco. Kalydeco is available in the US, UK and majority of Europe. Yet, Australia, a country which prides itself in being one of the most developed in the world, has not approved Kalydeco. We need you to make a difference, please do everything you can to help the 200 Australians to access Kalydeco.
Some photos from Wednesday:
Naomi, Faye, Rachelle, myself and Leah, five of the many passionate people behind #YesToKalydeco
Great turn out from the Cystic Fibrosis community at the morning tea event in Canberra
Presenting my speech at Parliament house. To my left is the Health Minister, MP Peter Dutton and Senator Anne Urquhart, to my right are MP Ken Wyatt, Mitch Messer, CFA President & Michelle Skinner, CFA CEO. I would like to sincerely thank Senator Urquhart & MP Ken Wyatt for hosting the events, as well as Senator Urquhart for organising for me to give a speech at the cocktail event. It is great to see politicians supporting Cystic Fibrosis and #YesToKalydeco.
Just like a rollercoaster, my health has had ups and downs over the last 28 years.
Kalydeco has helped my lungs significantly; my FEV1 has been stable at close to 70% for one year and I have only had IVs once in the last year, a 20 year record.
However I noticed that my energy levels have not matched my new lung function. My energy levels have improved, but not to the same extent that I have heard about with others on Kalydeco. Although I have been attending university much more often, and completing subjects unlike last year, I have struggled to keep up at times. In particular I have often felt tired in the afternoons and evenings.
I assumed this was normal CF tiredness. I think I’ve been tired since about 2008. This seems normal to me, I really cannot understand people who jump out of bed in the morning. And who aren’t tired. To me this seems very abnormal.
I came back from South America and my lungs were slightly below my new baseline of 70%. We decided it was time for my first IVs for two reasons 1) I had dropped slightly to 66% and 2) I still have pseudomonas in my lungs and have not had IVs yet, so it made sense to try IVs to get my lungs in the best possible shape.
I decided it would also be a smart idea to monitor my blood sugar levels. I have had impaired glucose tolerance since 2001, with OGTTs between 11 and 15. This means I have been pre-diabetic for about 12 years. For the last few years my self monitored blood sugar levels were 8-9 after meals on average and insulin was not needed. I am supposed to monitor these sporadically and generally have done this when on IVs.
After monitoring my blood sugar levels for a few weeks, I noticed they are higher now. I am about 10-12 on average after a reasonable size meal. Below about 8 is normal. I noticed that when I am high (above about 9), I feel tired. Sometimes I also had a headache. I realised that this potentially fits with what has been happening all year, I have often felt tired after lunch and dinner, and in April-May I had frequent headaches late evening.
I had another OGTT and this time it was 22. I felt terrible, first I was high, very tired, and basically could not function and use my laptop. Then 5 hours later I was down at 2.4 and felt terrible as I was really low. This is reactive hypoglycemia, with CF diabetes my insulin response is delayed, so I often get high and then low. I first felt reactive hypoglycemia in 2006.
So how does this relate to the rollercoaster? Well I feel that my lungs have been pretty much ‘fixed’ for now. I hoped that CF diabetes might be avoided (along with other CF complications) now that I’m on Kalydeco. Sadly this has not happened, and it appears that the CF diabetes has been having a pretty significant impact on my energy levels. I have just started taking insulin, I am hoping this will help.
Kalydeco & Cystic Fibrosis Diabetes:
My doctor mentioned that they had heard that blood sugar levels could vary more once on Kalydeco. I looked back through my named patient program information and found that it was suggested that close monitoring of blood sugar levels was needed, as high and low blood sugar levels can occur. I have heard anecdotally that some people have needed to increase their insulin dose after starting Kalydeco or that their blood sugar levels have increased. However, I have also read a recent article that suggests that Kalydeco may help increase the amount of insulin (and hence decrease the blood sugar levels). At this stage this is based on a very small study, it will be interesting to see the results of larger studies. In my case I was in the pre-diabetic category for many years, so it is not surprising that I am now diabetic. I hope those who start at a young age/before significant damage can avoid these types of complications.
– Recent research suggests almost half of those with CF will develop diabetes by age 30.
– Recent research also suggests that few people with CF have normal glucose metabolism. It is thought that all CF patients with pancreatic insufficiency have a degree of endocrine insufficiency (ie decreased insulin), however many CFs still have near normal glucose metabolism as their pancreas can compensate.
Decided it was time for a summary post about my new health on Kalydeco.
I have been on Kalydeco for 11 months through the Named Patient Program, a program where Vertex supply Kalydeco to those who are very unwell. Kalydeco is the first medication that treats the underlying cause of Cystic Fibrosis in patients with the G551D mutation.
Before Kalydeco my lung function was 41% and very unstable. I was in hospital every 3-4 months. I was on medications that treated the CF symptoms; these were becoming less effective as I grew older.
For the last 11 months my FEV1 has been stable at approx 70%. This is amazingly stable compared to before; for 20 years my lung function has varied up to 20% from month to
month, now I am stable for the first time in my life. This is my highest in 3 years.
I have stayed out of hospital for 11 months, which is a 20 year record (I am currently on IVs for mostly prophylactic reasons, I will post about this soon). Before Kalydeco I had over 60 hospital admissions, equalling 3 years of my life.
Every aspect of my health has improved with Kalydeco, I have gained 6kg, I can run up stairs, I can sleep without coughing and I’m attending uni more often. My sweat test results have improved from 102 to 40. This is much lower than the point (60) associated with the CF diagnosis.
Previously I did not plan further ahead than 5 years. At the age of 28, with a life expectancy of 37, I knew transplant was edging closer. Thanks to Kalydeco I now don’t have to plan around hospital and CF, instead I can plan to have a family, a career and to grow old with my lungs.
I hope that Kalydeco can become available to everyone around the world who may benefit as soon as possible. Kalydeco is not approved in Australia yet; we are trying to speed up the reimbursement process and would appreciate your support on facebook and twitter.
Images from Dec 2011 and May 2013. Inflammation and scarring appear white, this has improved significantly on my second xray.
I wrote this post about a week ago but have had limited access to the internet…
I spent about six days in Cusco (3400m) and the surrounding areas. After about two days my headaches stopped and I had no other symptoms. My oxygen saturation plateaued at 90% but continued to drop to about 75% with exercise (eg a few min of climbing stairs). After the first two days I was able to climb the stairs faster and felt less puffed out. I was also able to spend several hours walking around, walking quickly on flat ground and downhill (same speed as normal), but a little slower than usual uphill.
Whilst at 3400m my body would have reacted to my lower than normal oxygen saturation and produced more red blood cells (part of the acclimatisation process). I felt fine despite the 90% saturation (where I would normally have symptoms), as I had more red blood cells to carry the oxygen, so overall my amount of oxygen was higher. It would be interesting to know my blood gas levels and my red blood cell counts, but sadly I can’t test that myself!
Whilst we were based in Cusco at 3400m, I spent a few hours at 3800m. I noticed the difference straight away, struggling more uphill and at rest my oxygen saturation decreased to 85%. When we went down to 2000m (near Machu Picchu), my oxygen saturation increased to 95-97%, and I was able to carry luggage uphill and felt close to normal. I returned to 99% when we flew back to Lima 🙂
Overall my lungs coped very well with the altitude and I acclimatised quickly. My cough/other symptoms did not change, so far Kalydeco has been keeping my lungs stable 🙂
In terms of the holiday, Cusco, the Sacred Valley and Machu Picchu were all amazing! We are now heading to Santiago, Patagonia and Buenos Aires.
Just sorted through hundreds of photos:
Sacred Valley- yes they are gum trees in the background, seems they like using the aussie trees to build houses
I first researched Machu Picchu several years ago and realised that the closest airport was 3400m, Machu Picchu was 2400m and the Inca Trek reached 4200m. I then realised that there are two ways to reach Machu Picchu, either the Inca Trek or by train.
Ideally it would be best to travel from sea level to 3400m slowly, however bus trips here are very slow/windy/long so the best option is flying. This means I decided I was going to travel from sea level to Cusco at 3400m, then take the train to Machu Picchu. I would have liked to do the trek however I knew that the risk of altitude sickness would be quite high, and if I had a problem it would be hard to leave the trek (few roads) and get back to Cusco. I also knew that I might have problems at the altitude of 3400m alone. So the train seemed like the best option.
3400m has about 65% of the amount of oxygen at sea level.
I bought a cheap oximeter online so I could monitor my oxygen saturation. I knew it was likely that I would be fine but I bought this just in case I had significant altitude symptoms.
Just for fun I compared my values to Keith’s (both 97-99% at sea level, above 95% is normal):
On arrival: Gen 84%, Keith 79%
10min-4hr: Gen 89% (HR90-100), Keith 90% (HR90)
After climbing steps for 3min: Gen 76% (HR155), Keith 85% (HR115)
1min later: Gen 89%, Keith 87%
Overnight: Gen 82-85%, Keith 89%
Next day: Gen 89-91%, Keith 90-92%
So overall Keith and I are stable at about 90%, but I desaturate more with exercise and overnight. Interestingly he desaturated more initially, but recovered quickly.
Yesterday I had a headache and tingling in my fingers, today just a low level headache. Keith has had no symptoms. Overall I was expecting to be much more short of breath and to have more symptoms at this altitude. I know that without Kalydeco and with a lower level of lung function the symptoms would have been worse, it probably would not have been a smart idea to stay at 3400m. If anyone out there is reading this and thinking I am close to 70% FEV1, so maybe I would be ok at a high altitude as well – everyone is different and some people at 90% FEV1 can desaturate faster than those with lower lung function. Last year I did the altitude simulation test (set to the pressure in a plane- equivalent to 2500m or 73% oxygen) and I desaturated to 90%, then stayed at 90-95 (this was at 50% FEV1). This is the best way to know how you will go with an increase in altitude.
I will post again in a few days about how I am going with the altitude.
In terms of the holiday, we are having a great time & have visited Lima, the Amazon and are now in Cusco for a few days before visiting the Sacred Valley and Machu Picchu. I will post a couple of photos later 🙂
Information about altitude sickness (from Intrepid)
“Altitude sickness is the reaction of the body adjusting to decreasing amounts of oxygen. Normally, the higher the altitude, the less oxygen available for the body to carry on normal functions. Altitude sickness most commonly occurs from above 2,800 metres (9,200ft) but this is different for everyone – there is simply no way of knowing your own susceptibility prior to being at altitude thus it is vital you monitor your own health. Symptoms may be mild and subside/go away after a day’s rest, or if it is ignored it could lead to death. Symptoms can appear within 1-2 hours although most often appear 6-10 hours after ascent and generally subside in 1-2 days as the body adjusts to altitude. They may reappear as you continue to go higher.
Symptoms usually occur gradually & can be one or a combination of the following: Headache, Loss of appetite, Disturbed sleep or drowsiness, Irritability, Fatigue, Nausea/vomiting, Dizziness and Swelling of hands, feet & face.
If the body is unable to adjust to altitude these symptoms will persist and, if they are left untreated, altitude sickness may progress to High Altitude Cerebral Edema (HACE) or High Altitude Pulmonary Edema (HAPE). Both can be fatal if ignored.”
Thank you to everyone who submitted PBAC comments. We are looking forward to the July PBAC meeting, we need Kalydeco to become available for everyone with G551D asap!