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How Kaitie's battle with a non-curable disease turned into "one of the most incredible children’s story books."

Kaitie meeting The Wiggles.

Wednesday May 7 was special.

It was as special as the day Kaitie met the Wiggles (the original ones) when she was almost 3. It was as special as the experience of patting the dolphins at SeaWorld when she was 6. It was as special as the look on Kaitie’s face when I took her to the PINK concert when she was 8.

Let me take you back to the beginning…

4.15am February 28th 2005 our little girl came screaming into the world with hair as red as fire; we were totally in love and blissfully unaware of the life that lay ahead for our beautiful girl.

The next two years passed without much to note, Kaitie was a little late to reach milestones but we thought nothing of it, until 5 weeks before her 2nd birthday. That’s when the child health nurse said it was time to look into some questionable characteristics Kaitie had. She couldn’t stand straight and there was a small lump in her lumbar spine. Add that to her slight developmental delay and petite size and we decided to head to the GP, who sent us the very next week to see a paediatrician.

Said paediatrician looked at Kaitie, then us, and asked ‘have you ever heard of mucopolysaccharidosis?’ My husband and I looked at each other blankly, ‘Heard of it? We couldn’t even say it!’ He went on to say Kaitie needed to have more tests done and instructed us: ‘don’t google it’. So I went home and googled it.

What I read left me speechless, confused and heartbroken. Mucopolysaccharidosis, or MPS as it is more commonly known, is a group of diseases that are devastating, degenerative and often fatal – looking at my happy, cheeky little girl I was so sure it couldn’t be…

Over the next 4 weeks we drove the 500k round trip to Adelaide’s Women’s and Children’s Hospital 11 times for tests, scans and consultations. The day before Kaitie’s second birthday we were informed that she had MPS1, and it was the most severe type, Hurler Syndrome, she would need a bone marrow transplant as soon as possible or we would lose her.

The day before Kaitie’s second birthday we were informed that she had MPS1

Let me pause the story here to explain some basic clinical information. MPS is a group of six different syndromes, each with a number of subtypes. Each type affects patients differently but the commonality is that the patient is missing a vital enzyme that helps the body process and eliminate waste products in the blood.

Without the elimination of these waste products they build up in the body; joints, bones, organs and often the brain. For many types of MPS -without treatment- the patient slowly retards mentally and dies. Think of your body as a house – but when your ‘house’ has MPS you can never take the rubbish out, so it will build up and one day there will be no room to live in your house.

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But back to the story… Kaitie’s MPS1H has treatment, but no cure. Weekly Enzyme Replacement Therapy and a couple surgeries would help prepare Kaitie’s little body and get it as healthy as possible for the harrowing process that lay ahead. Then a bone marrow transplant would enable Kaitie’s body to make some of the enzyme she was missing and hopefully escape the crippling future that was inevitable without it.

Less than three months later we had relocated from our home in the Riverland in rural SA to Sydney Children’s Hospital in Randwick. Kaitie had a Cord Blood transplant – from a specially matched umbilical cord that was so generously donated and stored in the public cord blood bank in Sydney.

All that we know is it was from a baby who was born in Sydney. I wish there was a way to find the parents of that baby and thank them – their simple, selfless act quite literally saved our daughters life… It was a gruelling three months. We saw our daughter lose her hair from the chemotherapy, vomit blood from mucocytis, battle against graft versus host disease and be given more medications than I could ever possibly count.

But she made it!

At home we slowly began to resume a normal life – our new normal. Kaitie is regularly seen by 17 different speciality medical teams. I have held her down while anaesthetists put her out for 18 out of her 22 of her surgeries to date. I have driven her to the Women’s and Children’s Hospital in Adelaide over 100 times for almost 300 outpatient clinic appointments. This adds up to approximately 53,000 kilometres driven solely for the purpose of hospital appointments for Kaitie. Thankfully these have thinned out and we average one trip to Adelaide a month at present. Kaitie is now 9. She loves PINK and Ellen DeGeneres and think’s they would be great friends if they only got to meet her! Kaitie loves to sing and would spend all day on You Tube if you let her. Her little brother Alex is 5 and is almost the same size as Kaitie!

One day early last year, at a biennial MPS family conference, I happened to mention that my husband’s half-sister had developed a children’s book explaining MPS clinically for one of her high school subjects. She was graded very highly for it too. The MPS Society and pharmaceutical company, Genzyme, were keen to help see the book come to life, and from my sister-in-law’s simple concept, I, along with an author Amy Russo and illustrator Karen Erasmus developed one of the most incredible Children’s story books I’ve ever read. After 14 months of work – ‘Kaitie the Courageous’ was born.

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On May 7, ahead of International MPS awareness day on May 15th, we launched this book that has taken up so much of my time of over the past year. But it truly was a labour of love for me. As I stood back and watched my beautiful little girl stamp her name in books for the 50 or so people who attended the launch, I was so proud. The different people involved in bringing this book to life from its concept piece to a readily available children’s picture book have become friends and I am going to miss them and their numerous emails and phone calls. I know they are just as proud of our final product as I am. Kaitie touches people’s hearts. I realise I am bias but she is a truly special child. She impacts on people – her story impacts on people.

Days like this cause me to reflect quite a bit. This MPS journey hasn’t always been easy. At times raising a special needs child has been almost too much to bear. There were times I feared I would fall apart (and I did); there were times I feared my marriage would fall apart (and it didn’t). We are strong; and we will continue to fight for our daughter, for her quality of life for as long as we have her with us. So even though I may occasionally day dream about what it would be like to have a healthy, regular child, I have to believe we are on this MPS journey for a reason. People we have met along the way hold special places in our hearts and in our lives. Be they scientists, doctors, nurses, other friends with special needs kids or fellow ‘MPS family’ members. These are people we would have never met without MPS in our lives.

I have learned so much along the way about how to best care for Kaitie, I am my daughters’ best advocate. No one knows her like I do. I have become an excellent educator of family, friends, teachers and the wider community about Kaitie and her MPS. And while, yes, life with MPS is monumentally hard at times, most days I still consider ourselves very lucky, and I know we are so much richer for it.

Last Wednesday was special. Actually it was above and beyond special…

Kimberlee: Wife. Mum. Aged Care Worker. Civil Celebrant. MPS Society Australia Committee Member

You can read the entire journal of Kaitie’s journey at: www.caringbridge.org/visit/kaitie.The MPS Society will be selling the books for $14.95 very soon through our website. In the interim to order copies of the book contact us at: [email protected]. Please go to www.mpssociety.org.au for more information on MPS and related diseases.

 Please share this post to help raise awareness of Mucopolysaccharidosis, and help kids like Kaitie.

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