Tracy's story: Medical diagnosis

I will always remember seeing her as a beautiful tiny new-born floating upwards into my arms. Tom and I had a wonderful first hour together at home with her, as our four other children excitedly admired their new baby sister. I remember closing my eyes in relief and thanking God that baby was here safe and well.

Two hours later despite my best efforts she still hadn’t fed. When my midwives suggested we take her to hospital for observation, I knew immediately something was seriously wrong. Within minutes we were on the road heading towards the children’s hospital. When we got there, no one seemed in any panic. Doctors came and went. Then suddenly a horrible blue colour was visibly moving across Kathleen’s little body. I screamed as doctors came out of nowhere, racing down the corridor with her towards intensive care, and all we could do was follow.

The days that followed were a whirlwind of endless tests. The results came back in quick succession, each one more depressing than the last. It seemed every part of Kathleen’s little body was imperfect in some way.

Within a week, the geneticist had diagnosed her with the chromosomal anomaly Trisomy 13 or Pateau Syndrome. We were told her future was bleak. She would be mentally and physically handicapped and would probably not live to see her first birthday. If diagnosed before birth she would have been labelled with those ugly dehumanising words, ​‘fatal foetal abnormality’ or ​‘incompatible with life’. Now, two weeks after birth and still alive and kicking, she was described as life limited.

Despite this devastating diagnosis we continued to insist that Kathleen be given appropriate medical intervention and every opportunity to reach her full potential whatever that may be.

Doctors followed our directives, treating Kathleen as a unique child and not as a fatal diagnosis. During her hospital stay she received the very best of care and six weeks later, following surgery to address her reflux and insert a feeding tube, she was ready for home. For the first year Kathleen did amazingly well. She was a tranquil baby who was responding well to us and making mighty attempts to crawl. At one year old a sleep study revealed she had ​‘severe obstructive sleep apnea’. This means she would stop breathing many times throughout the night. She also began to get a series of chest infections requiring IV antibiotics. Kathleen continued to surprise us however and each time responded well to standard treatment and was back home and on the mend again within a week.

By the time she was three years old her health had stabilised remarkably and she was going from strength to strength. At four years old she started special school and became quite a character. She was so active that staff let her out every day with her ​‘wheelie walker’ to whizz up and down the corridor and even had a large trampoline placed just for her in the classroom.

Today Kathleen Rose is an amazing 10 year old little girl with a beautiful distinct personality and is known most for her mischievous laughter and enormous hugs. She enjoys the rough and tumble of family life and loves interacting with her brothers and sisters.

Caring for Kathleen has challenges of course. The day to day inconveniences of tube-feeding, incontinence, hospital appointments and cancelled plans are practical realities of my life.

As a family however, we thank God for the gift of time with this special child who has defied all expectations. She has taught us much about what is truly important in life and challenged us to grow in ways unthinkable before she came into our lives. I believe that all children with profound disabilities are precious jewels within our world because they give love in abundance. We become better parents, more loving people and richer communities by having these pure souls in our midst. No child should be labelled a ​‘fatal foetal abnormality’ or ​‘incompatible with life’. These terms are misleading, medically meaningless and incredibly hurtful for parents to hear. They instil fear into the heart of parents when they are at their most vulnerable.

We need to wrap our arms around these families and give them and their babies the love and support they deserve.

Whether our babies lives span just minutes, days or years like my Kathleen Rose, their lives have value and meaning and they can teach us how to love.