Hi, we are Sam and Rob and we need help funding IVF, after the loss of 2 daughters to Infantile Sialic Acid Storage Disorder, an incurable disorder that's never been diagnosed in Australia.
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We are very reluctant to do this but we need help... Our story is a long one and this is just the clif notes version.
Our journey to start a family started in 2021 when we found out while planning our wedding we were expecting our first child. We announced we were expecting at the end of our wedding and life was perfect!
Nothing out of the normal pregnancy things happened, and we started preparing to be a family of 3. Until the 20 week scan. This was during Covid times and Rob wasn't allowed in the scan, it went for around 3 hours- at the end a doctor come in and said that there was something wrong with the baby, but nothing specific. Battered and bruised I went home. But this started a whirl wind of appointments and different doctors between Ballarat and Melbourne but with nothing conclusive on what was wrong. All while we were dealing with Rob's Visa, which was stressful and very expensive.
When all of the 'normal' tests were done and come back nothing was wrong with me or the baby we were referred for further genetic testing. Rob became a patient at the Royal Women's Hospital which gave me a giggle and still does, so both of our DNA could be studied along with our daughter's. We were told that nothing usually comes of these tests and we put it in the back of our minds and kept going on with life.
I still remember the call and the urgency to have both Rob and I in the telehealth call later that night... The head geneticist told us that 3 out of 5 labs concluded our daughter had Infantile Sialic Acid Storage Disorder. A disorder that has never been seen in Australia and the infants that have had it have not lived past 18 months old. Our world imploded but there was still hope- 2 labs said it wasn't conclusive. So we kept setting up for our little girl. We said while she is fighting we will fight like hell right beside her. Miracles happen every day so why not for us?
But at 33 weeks and 3 days Freya Rhiannon Whittle decided it was time to come into the world- which was not the plan. We were meant to have her in Melbourne with a planned C-section; instead it was an emergency C-section in Ballarat with The Piper Team from Melbourne meeting us in the delivery room to care for Freya. It took hours for them to make her stable enough to make the journey back to Melbourne. I was told she may not make it and to say goodbye...
But for 27 days we got to spend with our little girl in the Royal Children's Hospital...
Until the now confirmed disorder took over and took her life. Holding my little girl while she took her last breathes is a pain physically and emotionally I cannot explain. It broke me and changed me...
It took a long time for me to be ready to consider giving Freya a sibling. We did not do this without a lot of planning and research with an amazing team behind us.
All of the odds were in our favour but ultimately that was not enough and our 2nd daughter Hallee Maia Whittle lost her life to the same disorder in May of this year when I was 16 weeks pregnant.
We never got to meet Hallee but we know she was just as cute and sassy as her sister. Her taste in food was very selective and I lived off mashed potatoes and maybe sometimes some peas if we were feeling fancy because anything else made me very sick!
We've been hit hard financially over the past 3 years with bill after bill, and a lot of time off work, Rob taking as much time as he could to be their for me but also to grieve himself. I have struggled significantly physically and emotionally, but I would do it all again because my girls are the best thing to ever happen to me (Rob excluded of course), being their Mumma is a priverlage I will never take for granted.
So this is where we need help. We are wanting to start our IVF journey so that we can have a living child without the disorder. But the testing doesn't exist yet...
Before we can even start IVF the genetic testing we need is $2,343. This will enable DNA from myself, Rob, and both Freya, and Hallee to be sent to the UK so they can develop a specific test for ISSD. And then after the test is developed it will cost $780 to test each embryo on top of all the 'normal' IVF costs. Which are just so overwhelming.
We have been on the waiting list for the public funded IVF since we lost Freya- but unfortunately time is not on our side and I am not getting any younger. The term geriatric has been used more times than I can count. If you know, you know!
We are aware what we are asking is a lot and people have their own lives and bills but on the off chance you can help us in any way reach our goal of being the Mumma and Daddy of a healthy child we would be forever grateful, because it is feeling like a dream that will never happen for us.
Ways you can help
1) Give what ever you can. Any amount will help and be very much appreciated
2) Or share on social media #EveryWhittlebithelps because if you can't help maybe someone else can
Not only do we need your help but we want to bring awareness to Genetic Disorders. In particular Infantile Sialic Acid Storage Disorder. We are by no means the only family battling with an incurable genetic disorder, and we will not be last. But maybe through this process we will be able to learn more and not feel so alone. Because it really does feel like our bodies are letting us down.
Thank you for just taking the time to read our story.
With love and thanks,
Sam and Rob