‘Mistakes’ can be a horrible word. It’s often associated with the word ‘fail’ and we’d…
May is Cystic Fibrosis Month. In 2017, we introduced you to two-year-old Millie, one of an estimated 60 Canberrans who is living with the condition. We talk to her mother Sally-Anne Clark about Millie as a seven-year-old and all the highs and lows of the CF journey.
How is Millie since our last story?
Millie is now in Year 1 at school and she loves it! We are so fortunate to have Mil at a school where the teachers have actively sought to educate themselves about CF and how they can best support Mil and to try and keep her well. She has had some very rough patches over the past two years that have seen some 10-day hospital admissions for bowel obstructions, new medications, changes to the regime and increased worry for us all. But by-and-large Mil is well, very well. Looking at her, and engaging with Mil you would not know there is a thing wrong with her. Her resilience knows no bounds, and she just rolls with it, despite the odd whinging when I ask her to do her treatment when she is “busy!”.
What else has happened since we last spoke?
Millie’s little brother James joined our family in November 2018. James is an IVF baby and who as an embryo was frozen at day six and then underwent preimplantation genetic diagnosis (PGD) testing where they test the genetic make-up of the embryo and see if it is affected by cystic fibrosis or any other standard genetic mutations or chromosomal abnormalities. We were lucky to have nine eggs collected, six that fertilised and five that made it is day five/six for PGD testing. Of those, James was the only embryo that was not affected by CF or even a carrier, we then had one that is a carrier and sitting on ice, and the remaining three were all affected with CF. Certainly makes you think about the one-in-four chance you have per embryo when 60 per cent of all of your embryos have CF!
The journey to have James was not an easy one. It was 2.5 years in the making and filled with more appointments than I care to count, and some incredible highs and incredible lows, but the overwhelming sense of calm and peace that came over me when he was placed in my arms when he was born, I knew that our family was complete and that he was our missing piece.
Mil has thrived as a big sister, and despite the bickering and occasional jealousy, she misses him when he isn’t around. And it is so nice to watch their evolving friendship and relationship now that he is able to play and converse with her.
How is Millie’s life different due to CF, and what are some of the everyday steps you need to take to keep her healthy?
CF is a part of our lives every day! Mil takes approximately 30 tablets daily – she can pop a pill like a champ, six at a time, no water! She also takes nebulised medications, plus other diluted medications to help prevent the ongoing bowel issues that she continues to experience. CF doesn’t take a break. It comes on holidays with us, continues when she is well and when she is unwell, no days off!
For me it is about making sure she is doing all of her treatments, but it is also all of the things that I have to do and plan for each and every day. Around the house I need to be aware of pooled water, water sitting in glasses, having vases of flowers around, her gardening, regular deep cleaning to ensure there is no build-up of bacteria or mould that may develop on damp surfaces, it is washing her towels daily, her bedding every couple of days, making sure she is eating lots of high fat foods, drinking plenty of water, making sure she is moving lots … the list goes on! My brain doesn’t stop… Everything has a contingency plan, even the contingency plan!!
We are coming up to the age where she wants to go on play dates on her own or to birthday parties, and that is the next thing to face—letting others in to our world to ensure they have an understanding about the support she needs for her CF until she can manage it on her own. The challenges we will face will continue to evolve as she gets older.
At your happiest moments, how do you feel about CF?
At my happiest I am grateful for the people it has bought into my life, who along with our closest friends and family, at my lowest have shown me unbridled kindness and generosity. It has opened my eyes to true empathy for others and what that really means, it has also really shown me the importance of not sweating the small stuff. I’m a big believer now in the saying “The sun will still rise tomorrow” and what that means… The world won’t come to a standstill.
At your lowest ebbs what goes through your mind?
Her future and what it could be like. One bad bug and her health is irrevocably damaged. I was told the day she was diagnosed that on any day, she is as well as she will ever be, and that is why I have always tried to have her health and wellbeing at the front of mind in my decision making, often to my own detriment. You hear the CF horror stories, and they terrify me. So yes, anxiety and paranoia is real in me. But in saying that, I also now don’t feel bad for saying no, not even just about things related to Mil, but also about what is best for me.
I hate that it is a part of our life, and as Mil gets older and asks more questions, particularly the “why me?”, and starts to get a greater understanding of the impact of CF on her life, I hate that it will make her feel or seem different from her peers or that it may limit her future desires in any way, shape or form. I hate imagining that she won’t live a full life and celebrate all of life’s milestones should she want to achieve them – go to uni, travel the world with ease, fall in love, get married, have children, meet her grandchildren. I hate to know that there will be struggles in her life and that she may have to fight harder than others to make things happen, things that others take for granted.
She is strong and feisty, and very opinionated for a seven-year-old, and while at times it actually drives me insane, I know that down the road each of these traits will hold her in good stead as she has to start to take on these battles as her own, with my role relegated to that of support crew!
How important is research to find a cure and when do you think that might be? What are future treatment options for Millie?
I’d love to think that a cure will be found in her lifetime, and they’re working on it so maybe it will, but given it will involve gene therapy I think there will be a lot of hurdles to get there, and to ensure her health remains optimum until this time is the unknown.
But in saying that, there is a drug out there that Millie is eligible for, but it is going through the process to be listed on the PBS at this stage for those aged 12 and over. The magic pink and blue pills that are Trikafta are currently the closest thing to a cure for a person with CF (with certain mutations). They basically trick the body into thinking it doesn’t have CF. The catch is this drug is valued at $1120 per day per patient in Australia – basically over $400,000 per year, and that is unrealistic for most of the 2,200 Australians with CF that it could benefit. In late April, we found out that the PBAC, the Pharmaceutical Benefits Advisory Committee, announced that they were deferring Trikafta and that it was not being recommended for government funding at this time. While this isn’t a hard no, it certainly indicated that at the current price the Government will not fund the drug and so Vertex the manufacturer has to go into negotiations with the Government about the cost. All this is occurring while the sickest sufferers are getting sicker.
If the drug was approved and listed on the PBS for those ages 12 years +, Millie’s respiratory physician thinks it will be available for those aged over 6 by the end of 2022. So now I fight and advocate, not only for her health, but with parliamentarians and anyone else I have to to do what I can with the rest of the CF community to make this happen.
As a mum, does increased community awareness and support help you stay positive?
It does. It also helps to explain why I do what I do – why I at times have to say no for example – and why she has to do what she does! My friendship circle post Mil’s diagnosis got very small, and that was a conscious decision. Over time it has evolved, but I have a strong, wonderful group of women, my mum gang, that support me and know when I need to be propped up, or when I need that extra glass of champagne! Over time, they have gone through Millie’s admissions or when she has been sick, or clinic visits, and each of these times has been an education opportunity for them, so now they get it. I don’t have to explain myself. The additional community awareness by Cystic Fibrosis ACT and the CF community is then a bonus for us!!
What does CF Awareness Month mean to you?
CF Awareness Month for me is a time to reflect, as cliché as it sounds’ on our journey and how far we have come from the shock and emotion that comes with a newborn diagnosis. It is a chance to come together as a CF community to raise awareness about what CF is and how it impacts sufferers lives and those of their loved ones. It is also a time to share stories and collectively rally the troops to advocate and to raise much needed funds for the organisations that support CF families.
Cystic Fibrosis ACT is excited run the 65 Roses Fundraising High Tea on Sunday 16th May 2021, at The Hotel Realm from 1pm – 3.30pm. All proceeds will go to Cystic Fibrosis ACT. These funds provide much needed support services for the Cystic Fibrosis community of Canberra.