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.
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.