Annual Review 2012

Ruby's second annual review was today. Sort of like a birthday, but a celebration we would rather not be having. All 4 of us took the trip down to Westmead today. I was very organised and packed a bag full of food and entertainment for the kids.

We got there at 9.30 and started with the normal weigh-in and height measurement. Ruby was very compliant and did exactly as she was told. In fact, she was like that most of the day. It takes a lot to upset her.

Eliza lending some weight to Ruby

Her sweat test wasn't until 10.30 so we started off with the normal nurse checkup. Much to our amusement, Ruby and Eliza burst into squeals of excitement when the suction machine was wheeled in, as it has a huge tin of lollies on it. Ruby had her sputum suction and fir the first time ever didn't cry. It will take a few days to get the results back.  Both kids received a specimen jar full of jellybeans!

Physio checkup was all good too. We discussed different blowing exercises and will be starting off with blowing bubbles in the back with a piece of tubing.  We also discussed getting a vest again. Lot's to think about there especially as a long term study has been completed where it was shown that PEP therapy is more efficient than the vest. 

Then we were off to the sweat test. Electrodes were attached to Ruby's skin to stimulate the sweat glands, then some filter paper was placed onto her skin to collect the sweat for analysis. She left this on for half an hour, but unfortunately not enough sweat was produced and we will have to try again another day. All through the process, Ruby just watched intently what was going on and never got upset. Until it was time to pull the tape off, and then it really hurt her and she had a good cry. 

The electrodes that stimulates the sweat cells to test the level of chloride

Then a consultation with the gastro dr who felt her belly for any enlarged organs and hard parts of the bowel but all was good and squishy. We then chatted to the dietitian which is always painful as I can never actually remember all the things I feed Ruby and I get asked questions like "how much cream do you add" or "how much water does she drink" and my answers of 3 splashes, or showing an amount with my fingers aren't good enough. But dieto is happy with the amount she is eating and the amount of Creon that I am giving her, and no changes need to be made, or supplements added.

Finally, we see Ruby's main dr who checks her lungs (all clear) and we talk about new drugs coming and her general health. We decide to start her on Pulmozyme which is a drug that changes the DNA of mucous, making it shorter, therefore thinner and easier to cough up. This drug is used in many countries as a preventative and works really well. It is try expensive ($25,000 a year) and can only be covered by the PBS if you meet a certain criteria. Which Ruby does, based on her age and recent fight with pseudo. As the doctor said, "we are trying to preserve Ruby's lungs until there is a drug available that will manage all of CF" (referring to the new miracle dug being trialed with different gene types, Kalydeco).

So I feel very lucky that we don't have to push our clinic to try these things, and that we have a health care system that makes this affordable to us. I also appreciate that these things can seem inconsistent between clinics. As Ruby is too young to have the lung function tests, she does not have to show lung improvement to stay on this drug. 

New toys from clinic for being a good girl

So then we pick up a huge bag of meds from the CF pharmacy, pickup the bits and pieces that we have gained (including 2 cute dr teddy bears), make a date to come back in 2 months and treat ourselves to lunch at the hospital cafe.  Oh yeah, then walk to Parramatta Park where we had to park.

A busy day, but both kids did well. Eliza looked out for Ruby and Ruby was charming to the staff as always. 

CF never stops. We are always learning something new, can't rest for  second. 

Dare To Hope

Maybe you have noticed that I don't often post about a cure. Maybe not.
Some big discoveries have been made in the last 20 years, allowing our kids to make it to teenagers and beyond. We are always working towards a cure. It's something I hope for but something I am not relying on.

A few years ago, a company called Vertex started making real progress with actually changing the way the damaged cells work. It was the closest thing that anyone had ever gotten to a cure. With each bit of progress made, it was shared like wildfire throughout the CF community. Statuses updated, links shared, etc etc.

I was a bit of a party pooper. I never shared the news or let myself become excited about it. To me, it was still too far away. Still at "Today Tonight" level.

So it turned out that the drug wasn't suitable for the majority of the CF population. But from it came a different version of the drug which helped people with the G551D mutation.


I'm getting ahead of myself. Cystic Fibrosis occurs when a baby inherits 2 CF mutations. These mutations/genes have names. The most common mutation is DeltaF508. Ruby has one DeltaF508 and the other mutation she has is 621+1G>T. These mutations stop the process of salt being transferred throughout the cells. The drug that Vertex is producing is making that salt transfer happen, therefore stopping all the symptoms of CF. 


As Ruby doesn't have the mutation that the drug targets, I didn't really think much of it. And to be honest, I thought it would be years before anyone could see the benefits.
Then I started hearing things like this:


Since starting Kalydeco (the brand name of the drug)

"His exercise tolerance blows my mind. The increase in energy has been undeniable."


"A week ago I couldn't chase my dog around my back yard more then two maybe three times. I am now able to do it 5 or 6 times before I feel like I'm about to pass out"






 Sweat tests have lowered, people have been able to stop using Creon, lung function has increased. 




Pretty amazing stuff...life changing stuff! The more of these things I read (and there are HEAPS) of them, the more I allowed myself to think that yes, maybe there will be a cure in Ruby's future. Once they have  
a drug that targets her mutation.






So I'm on Facebook today as normal, and a post pops up on my newsfeed. And the post is written by an American mum who got Kalydeco for her daughter who has the mutations DF508 & 621+1G>Tand how she has been on it for a month with awesome improvements! So that means that there IS hope!


A long way to go with getting the drug to Australia and approved and paid for...but now I have something to focus on xx




The lady who posted about her daughter was posting because her insurance will now no longer cover Kalydeco as she doesn't have the G551D mutation. This means for her daughter to still have this drug, she needs to pay retail, which is $294,000 per year.  



.

Be a Good Friend

We get told some pretty scary things about CF from our kids doctors. Lots of it won't affect you. You don't have to worry about how to help our kids avoid diabetes or osteoporosis, you don't have to measure up the pros and cons of sending our kids to swimming lessons, you don't have to make sure that physio is done properly. And we don't expect you to worry about all of those things. That's our responsibility, our priveledge.


One of the scary things we are told about, is how a common cold, and other illnesses that are minor to most, can affect our child in the long term. What might be a day off school for your child, could very easily be a hospital admission for ours. A week of illness for your child could equal permanant lung damage for ours. Your child will feel better and be better. Our child may feel better, but all of these "little" illnesses shorten our childs life. That's just how it is.


Again, not your problem. Or is it? Being the mum of a CF child can be stressful and sometimes isolating. We don't want to lose friends, we need you more than ever. But we know more now, and our priorities may have changed slightly.


The good news is, it's easy for you to still be a good friend! There are just a few simple rules. These should help you out.

Accept that Cystic Fibrosis is serious.

One of the hardest things about CF is that our kids don't often look or act sick. And we don't really like reminding people. But the fact is, our kids have an incurable, life shortening, chronic illness that needs to be managed every single day. They are not the same as other children. We are not being cotton wool parents, we are keeping our children as healthy as we can for as long as we can.

Learn the basics.

We don't expect you to become an expert on the subject, but knowing the basics of the disease will help you understand why we are so anal about some things! In the smallest nutshell in the world: Cystic Fibrosis is a disease that causes the thickening of secretions in the bodies organs. This means that germs like to breed in the lungs, causing irreversible lung damage and eventually respiratory failure. If you would like to know more...ask! Your head won't get bitten off, I promise. Or you can check out the links at the bottom of the page. And no, they won't grow out of it.

Practice good hygeine.

Our kids don't need to be stuck in an antibacterial bubble. Practicing normal good hygeine will protect our kids. Wash your hands often, cover your mouth when you sneeze or cough. If you want to be a super good friend, let us know that you know that we want you to know! ie "oh give me a cuddle of your bubba! I can't wait to get my freshly washed hands on that gorgeous bundle of joy!" And of course...

Stay away if you are sick!

(or smell like smoke).

This is the most important point. Read the start of the page again. Your minor illness is our major fear. We won't get offended if you cancel a playdate, we won't hate you if you can't come to our dinner party. In fact, we will love you even more if you avoid us when you or your kids aren't well. This is the part where you can help us with managing our child's illness. Please please please let us know if your child has been sick. You don't have to decide if we should stay away or not, we will make the call. But we need to be able to make an informed choice. The smoking part is self explainatory and common sense.

Don't turn us into the bad one.

These rules will never change. Our child will always be sick, you will always need to practice good hygeine, we will always want to know if you or your kids are sick. Please don't make us bring it up all the time. We would really really really appreciate it if you remembered these points. It's no fun telling people over and over to wash their hands or cover their mouths. It's frustrating and sometimes embarrassing, but we will do it if we have to. We hope our friendship is worth the trouble.

Kiss and cuddle our kids!

I hope I haven't scared you off. The rules aren't too tricky, and our kids (like all kids) need all the love and good times that they can get. Big cuddles are awesome, tickle time is hilarious, holding hands is precious. If you are well and washed, please don't treat our kids differently.


That's pretty much it! Our lives changed dramatically when we got this diagnosis. We try to keep things as normal as possible, but it's not always possible. Our friends and family are so important to us, our childs health more so. We need you, please be there for us.

Cystic Fibrosis Australia

Oli & Nush A short cartoon about CF.

One More Step

This Saturday, a team of people are going to do an amazing thing. They are going to walk 65km in a day. That's a BIG walk, probably bigger than what a few of them realise!

To be honest, I don't really care if they do 65k or 65 steps. The fact that they have joined our team is enough for me. That in itself speaks volumes.

But for the ones who have a personal goal of going the whole distance and are looking for extra motivation, this is for you. When you are struggling for breath, when your legs are wobbly, when the last lap seems so far away, think of this.

Think of Ruby's start to life, a major operation at 3 days old - take one more step
Think of the little needles and tubes that she had in NICU - take one more step
Think of the scars that some of them have already left - take one more step
Think of the infections ruining her lungs - take one more step
Think of the invasive tests and prodding she has at every clinic visit - take one more step
Think of the many meds she has to have to survive - take one more step
Think of the physio she has to do every.single.day - take one more step
Think of the years that she will miss out on - take one more step
Think of the way that her breath will be laboured (like you on your 5th lap) - take one more step
Remember that this is how it will always be for her - take one more step

Think of the cure that is currently being worked on - take one more step
Think of the difference YOU are making - take one more step
Think of how much this means to us - take one more step.

www.mycause.com.au/teamruby

Thank-you.

Dear Blog

Dear Blog, 

Sorry I haven't written here for a while...the world has been finding things for me to do lately. I promise I will return and offload all of the things going on in my mind when the universe slows down just a tiny bit. I am at the end stages of the Team Ruby auction (still trying to buy my baby a cure), another side project that just seemed to snowball into something amazing. Once again I have under-estimated the compassion and generosity that people have shown us. It makes me wonder what we have done to deserve this wonderful support, instead of letting me wonder why we deserved to have CF in our lives at all.

Ruby has been waking with severe tummy pains throughout the night so I have been tired, even too tired to come and visit you. I haven't had a good entry in a while. I know I posted many times in May for 31 Days of May, the Cystic Fibrosis Way but they were more for awareness purposes, not lightening my emotional load.

So thanks for waiting for me...

From Ruby's Dad

These words are from Ruby's dad, Craig. We went through this together, and we were there for each other. During our time at Westmead, we took turns at being the strong one, and we held onto each other for comfort. Absolutely no way I would have be able to go through this without him.

I will never forget the night Ruby was born. Some say there is no such thing as love at first sight. Well they obviously don’t have children, because the moment I saw Ruby, I was totally in love with her. This was also the case with Eliza. To have such strong feelings for someone you have only just met and who has only been on earth a few seconds, is a feeling that has to be experienced to be understood.


I remember the birth and my first hold of Ruby. Looking into her innocent eyes, at that moment I made a contract with Ruby, it was a pretty simple one, it was to do all I could to protect and help her. I believe all parents mentally make similar contracts the moment the see or hold their newborn children.

When Ruby started to have her initial problems at hospital I was shocked as she had looked so well when she was born and seemed happy. She breastfed almost straight away and seemed to be the classic healthy baby. My mind was dealing with a hundred thoughts and as many emotions when they transferred her to the high dependency unit. As her condition worsened and the outlook became more serious, I went into auto pilot. You just do what needs to be done. I never thought I would need to start fulfilling my contract so early.

When Ruby was transferred by Newborn Emergency Transport (NETS) to Westmead, I was so overwhelmed with what to do. I had a wife who was devastated that her newborn daughter was being taken away, a 3 year old who just wanted her parents and a newborn daughter who was seriously ill. What do you do??? I had to leave Danni in tears and take Eliza home and then try and get some sleep. All after having very little sleep and with less to come, I set the alarm for 5am and set off with Eliza to Westmead, racked with guilt that I hadn’t been there for Ruby all night. I arranged for my parents to pick up Danni from Gosford Hospital and bring her down as soon as she could be discharged and to drop Eliza off at Danni’s aunties. I later found out Danni’s parents had called into Westmead on the way from Melbourne and made sure Ruby was ok. This was such a relief, as Ruby hadn’t been totally alone.

The following weeks were a mixture of worry, sleep deprivation, relief and sadness all mixed in with some wonderful joyful moments. I had never before experienced such a time of turbulent emotions. Watching Ruby going to have major surgery at 3 days old was the hardest thing I had ever done. This was the first time I had cried since Ruby’s birth. Hearing her diagnosed with Cystic Fibrosis after being told how well her surgery went just a few moments earlier, was like a kick in the guts. Rocking her to sleep for the first time was a fantastic feeling and wheeling her outside the first time was such a relief. Speaking to the CF team and getting all the relevant information and do’s and do not’s, as well as collecting all the medications just made me feel sadness for the future of Ruby. But when we left that hospital and arrived home I felt absolute relief and joy, as well as a determination to make Ruby’s life a beautiful, healthy and wonderful life.

Ruby looks well but she is sick. Her life has many medications and treatments already and without her enzymes she would waste away. Her future will hold many more challenges, it will also hold many wonderful moments and will be the best life we can possibly offer her. The support network of family and friends Ruby has are the best she could wish her. Her Mummy is the most wonderful mum in the world. The care she gives her, the research she has done, the diet she has worked out, as well as the love she provides are all Ruby needs and then some. This is whilst still providing the same caring and loving mothering to Eliza. Danni blows me away each and everyday.

As Ruby’s Daddy, I aim to fulfil my contract to her. I will be there for her at every part of this journey. I don’t know what the future will hold but I understand the realities of this disease and will ensure Ruby is never alone in this fight. I am not a doctor or scientist, so I can’t cure her but I can fight for her at every opportunity. I can help raise money for research and care and do my utmost to raise the awareness of CF. So when you think that maybe we are bombarding you with CF information and stories and if you think maybe we are a little too focussed on this disease, think about the ‘contract’ we all make with our children. Whether we make this contract consciously or unconsciously we all do it and I would hope, all fulfil it to the best of our abilities. Think how you would react if Ruby was your daughter.

Thanks to all our family and friends who have provided such wonderful support to us and Team Ruby. We love you all………

Bee in my Bonnett

Yes, I officially have a bee in my bonnett.

As a family, we have entered our first CF fundraiser/awareness event. We have entered a team in the 65k 4 65 Roses Walkathon. We are Team Ruby.

On the 5th of March Craig and other team members will be walking 65k in one day to raise money for the CF Clinic at Westmead Hospital and for CFNSW 

I feel like I am doing something. I have a goal, a purpose. I'm raising money to save my daughters life. I know that sounds melodramatic, but lets look at the facts. Let's look past her happy personality and beautiful smile and see whats inside. You would see a set of lungs full of mucus, ready to hold onto and breed bacteria, turning it into an infection, resulting in scar tissue. You would see a pancreas that doesn't work as it is too clogged up of that same mucus. You would see a re-sectioned bowel. You would see that same mucus again in the ovaries, stopping the release of eggs, leading to infertility.

Sometimes it's hard to compredend what is going on inside, when outside she is just so perfect.

But I'm getting off track here. Back to my bee. I've been buzzing around like mad, promoting our team and organising fundraising. This is so important to me that I sometimes have to take a step back and remember that not everyone has a child with CF. Not everyone feels as strongly about this as me. I have this sense of urgency about me and I don't really understand it. All I know is that money will cure Ruby's disease. I wish it wasn't like that but it is. The CF gene has been identified and has been cloned and "cured", but not permanently. They are so close to finding a cure , money pays for results, as simple as that.

I have had a few tears leak out during Team Rubys existance. The faith that I had lost in the universe (without really realising) is coming back. I have amazing friends. Hell, I even have amazing aquaintances! The amount of people that have helped us is just heart warming, it really is. Here are some amazing things that are happening for us:

My yoga teacher is donating a whole mornings takings to Team Ruby
My friend Shirley is donating 10% of her Avon sales to Team Ruby
My Tupperware lady is donating 20% of sales to Team Ruby
Our family friend Mel is walking the walk, but is also helping in a million and one other other ways, even though she is a mum and works full time
My friend Laura is giving away 3 remedial massages for us
My mothers group let me use them as an outlet, they are my best friends and I love them all
My cousin Michelle donated a manicure for us to use as a prize
My friend Caz is donating a family photography sitting to one lucky donor
My friend Anita has asked that no presents be bought for her sons birthday, just donations to Team Ruby

So, please help us out if you can! You can donate here:
www.mycause.com.au/teamruby 

And join our Facebook page here:
www.facebook.com/teamruby 

This will be our one major fundraising effort for the year

Thankyou.

On and on...

I am a mum, I do mum things for my kids. Cook, clean, nurture, teach, play, raise...the list goes on. We all know how much is involved with being a parent, I am not alone in this!

But I am not a scientist, a researcher, a doctor or a health professional. I don't know how to cure Cystic Fibrosis, I don't even really understand the biological, genetic or technical side of it. I do know that the medical community is confident that a cure is close (and not in a "miracle cure" found on A Current Affair type shows way) and I have faith in that.

So, what can I do to help? I can spread awareness. I can let people know what CF is and how it affects us. I can hound you with raffle tickets, research links and status updates. I can share photos, stories and experiences.

So sorry if my blog posts and Facebook page seem a bit CF obsessive, but it's the only way I know how to contribute towards the best possible outcome.


 


Here is an interview with Dr Michael Boyle about the basic defect in CF and how the two drugs, VX-770 and VX-809, aim to help fix the underlying problems, but in different ways. Good news for CFers, even though it's not very exciting viewing!