2017 Christmas Appeal
There are some moments in life you never forget; your first love, your first home, the birth of your children...and, for us, the diagnosis of our gorgeous baby girl with a condition that causes tumours to grow throughout her perfect little body.
We couldn't believe what we were hearing:"Neurofibromatosis, Type 1." something geneticists call "the cruel gene." A serious, incurable and unpredictable condition that would stay with her for life. She was just nine weeks old. Nine weeks of dreaming about a bright and healthy future had evaporated in an instant.
Doctors told us what they could about the condition. Specialist knowledge in this area is still sadly limited. The tumours could appear on any nerve throughout her body, including in her brain and spinal cord. They could be malignant or benign. They could make the bones in her leg susceptible to breakage and result in amputation. All this is unforeseeable.
We were tld that she was at risk of disfigurement, deafness, blindness, delayed development, learning disabilities and sutism specturm disorder. We also learnt that she was more likely than her two older brothers of developing various cancers, such as childhood leukemia. It felt like each new specialist had a fresh set of painful possibilities for us to face.
Worst of all, she could develop none, some or all these manifestations; there is currently no way of knowing which ones or when. Perpetual fear and uncertainty had replaced our hopes and dreams for her future.
The only thing we still had in abundance was love; we held on to our love for Emme with a new and intense ferocity.
Two years passed before our worst fears were realised. Earlier this year, Emme was diagnosed with multiple spinal cord tumours and a brainstem giloma (tumour) soon after.
If her initial diagnosis brought me to my knees, the realisation that NF was rapidly manifesting itself throughout her body just about broke me. There are no words that adequately describe the anguish of a mummy who fears she is losing her child. There is no way to explain how desperately said it feels to tell two adoring big brothers that their little sister is sick. Sometimes I talk about it with a calm detachment and sometimes I cry endlessly. Such is the nature of grief.
Emme's brainstem tumour is inoperable. The only treatment option available to us is chemotherapy, however, its efficacy on a NF tumour in this location is uncertain. Her oncologist is carefully wighing the risks and benefits of beginning treatment. We find ourselves in a frustrating "wait and see" period.
We head into the Christmas season with heavier hearts, multiple specialist appointments and a final MRI to determine whether she will begin treatment. What we are hoping for is the figt of a little more time, allowing her body and brain to grow a bit more before we start with chemotherapy.
NF was an unexpected and unwelcome intruder in our lives, but we are determined to fight it with all that we have. It was so heartwarming to work with the Children's Tumour Foundation this year on the Gold Coast Cupid's Undie Run. It was wonderful to see so many people running in solidarity with Australia's only organisation supporing families living with NF, funding medical research into new treatment options as well as raising awareness of NF in the medical and wider communities.
NF may have stolen our hopes for the future but it has not stolen our present. Our home is again filled with the sounds of love and laughter and we'll be making the most of our Christmas holidays regardless of what may lie on the horizon.
With the loving support of friends, family and CTF, we know we can overcome whatever NF sends our way next.
Zoe (Emme's mum)