When Jessica was just over a year old, I knew things weren’t right. She always seemed to be unwell, with recurrent chest and flu like infections and we seemed to forever be at the doctors. The first serious infection Jessica had was L3/4 discitis – a staph infection in her spine, she was 2. She collapsed at home one morning and could not walk. Initially doctors in emergency diagnosed a soft tissue injury and it took repeated visits back to the hospital, over several weeks, and numerous tests, for them to finally diagnose the discitis. Finally she was admitted to the hospital for IV antibiotics.
It was whilst undergoing treatment for the discitis in hospital, that doctors discovered Jessica’s white blood cells – mainly her neutrophils were extremely low. We were flown immediately to the RCH Brisbane, to undergo further tests. We didn’t know it at the time, but tests were being conducted to determine whether Jessica had leukemia, and thankfully these came back negative. What they did determine, was that Jess had what they suspected to be an autoimmune neutrapenia. This is where the child’s own body is attacking its own immune system. Jess was started on GCSF injections, which enabled her to release the neutrophils (white blood cells) trapped in her bone marrow to the rest of her body, enabling her to have a stronger immune respone.
So – we had to learn how to give our daughter injections. As you can imagine, she hated the whole experience and trying to explain to a 2 year old why you now need to give her injections on a regular basis is tough.
We carried on with life…adopting a new routine.
The next serious infection, requiring hospitalisation was when Jessica was 4, a few months before she started prep. This time things progressed very quickly. Jessica woke up one morning with a cold sore. Within hours it was unsightly. Within a week, she developed fevers and a painful left knee, it became so painful she was unable to weight bare. Things seemed very familiar to me. Jess was admitted to hospital and was diagnosed with osteomyelitis of the left distal femur, she had surgery to washout the knee and another lengthy stay on IV antibiotics.
This is when things seemed to reach a head. Jess was only 4 and had already had 2 serious cases of osteomyelitis or bone infections. We met with our immunologist and Jessica was closely monitored. Our immunologist suspected Jessica might have some other immune deficiency and so we began doing further testing.
Our journey to diagnosis wasn’t easy. We waited several months to receive genetic test results from the USA, which unfortunately confirmed Jessica had Whim syndrome, an extremely rare immune deficiency, with around 60 reported cases in the world. I was gutted. Justin my husband, who has always been so positive, continued to be an optimist. We know what we are dealing with now and Jess can get treatment – things can always be worse he would say. So we immediately started daily prophylactic (preventative) antibiotics and our immunologist applied for Jessica to start immunoglobulin replacement treatment, which helps boost the antibodies in the bloodstream. Some months later in Aug 2012, Jessica had her first immunoglobulin infusion. She has now been having these monthly infusions for just over a year.
We have seen so much improvement in Jessica’s life since she started Immunoglobulin infusions. She now lives her life to the fullest, and has an amazing amount of energy. She loves to play with her younger brother and has really settled into school. We are very thankful to the Australian Red Cross Blood Service and all the people who take the time out of their lives to donate blood and plasma. Words cannot describe how much we appreciate this precious gift.
Through the Royal Children’s Hospital we were introduced to IDFA (Immune deficiencies Foundation Australia). This organisation provides support to families touched by primary immune deficiency. Even though these families are affected by different immune deficiencies, we walk a similar road. Through the support of IDFA, we no longer feel alone, as we have met some other beautiful families sharing the same journey.
Since the initial diagnosis we have also been lucky enough to complete genetic testing on Jessica’s little brother, and thankfully he is in the clear.
Our family has learnt so much from Jessica’s experience. We have met and continue to meet some amazing, strong families who like us, just want their children to be healthy. We are more patient and compassionate. We have a much greater appreciation for the little things in life. We value our health and the health of our family and friends. We have a greater understanding and empathy for other families who also have children with chronic health issues. We have become a closer family unit, and strive to make every day count.