Believe in your child – treasure every milestone.
For some children, the path of life is a bumpy one – but determination, a happy disposition and family support help to smooth the way. Mackenzie’s path may have had bumps, may have bumps to come, but she is greatly loved. She is a source of strength to her family, loved for her smile, her determination, her chubby, kissable cheeks, chunky thighs and the way her laugh lights up the room. Her family wouldn’t change her for the world.
McKenzie came into the world by caesarean section at 36 weeks gestation. A healthy baby despite her early start and mild jaundice, she was eight days old when she went home to Emily, Daniel and brother Deacon. When she was eight weeks old, Emily and Daniel noticed that she always turned her head to the right when sleeping and playing. The bumps had started.
Emily raised the issue with her child health nurse, but it was some weeks before a referral to physiotherapy was made, and torticollis (a shortening of muscle in the neck) was identified. Regular physiotherapy appointments and exercises at home led to improvements, but Emily noticed that Mackenzie wasn’t reaching milestones at the same age as her brother, even when her prematurity was taken into consideration. Referral to a paediatrician and to the State Child Development Centre resulted in further referral and, on 6 October 2015, a diagnosis of Chromosome 9p deletion was made.
From that day on we have 100% believed in our little princess and have celebrated every single milestone that she has achieved, even if to others it is the smallest thing.
Chromosome 9p deletion is a rare condition, affecting 1 in 50,000 children. This rarity means that the condition is not well understood. The beginning of Mackenzie’s path was more difficult because of this.
The condition is, as the name suggests, a deletion of a part of the short end (P section) of the 9th chromosome. It can occur randomly (parents are not carriers) or as the result of a parent’s genetic makeup. The actual position and size of the deletion varies, and as a result, the consequences also vary. Facial features (for example shape of the forehead) and whole body features (such as low muscle tone) may be evident, and speech / language delay is common. The list of possible characteristics and symptoms is long – you learn more here.
Mackenzie’s condition has not changed the way we look or treat her – she is not different to any other child … she just needs help to build up the muscle strength to crawl, walk and talk.
Life since Mackenzie’s diagnosis has been a busy round of appointments and tests. As epilepsy is often associated with Chromosome 9p deletion, Mackenzie underwent an EEG at Princess Margaret Hospital. She has also been seen by a cardiologist, a paediatric surgeon and craniologist. Fortunately, no evidence of epilepsy was found, and her heart problems (heart murmur, crooked pulmonary valve and a small hole in the heart) have either self-corrected, or are not of immediate concern. She had surgery to correct her umbilical hernia, and her head shape requires monitoring. Regular review by craniologist and neurosurgeon will ensure that there that there is no pressure on her brain. Ongoing physiotherapy, occupational therapy and hydrotherapy is needed to build muscle strength, and a monthly appointment with a chiropractor reviews progress. Assessment by a developmental paediatrician is coming up. Wonderful support from family and friends helps the family with the continuous demands on their time and energy.
Throughout the appointments, the ups and downs, Mackenzie has continued to show everyone the strength of her character, and her sunny disposition. Determination is her superpower. In all her therapy sessions, and in her efforts to overcome her low muscle tone she shows her determination, almost as though she wants to prove the experts wrong, to achieve things they said were not possible. Her muscle control is developing. She can now sit up by herself, clap her hands, wave, and roll from her back to her tummy and tummy to back. With use of a standing frame provided by PMH Mackenzie started to put weight on her legs and feet. She can now crawl, pull to stand and as of last week has taken a couple of steps – this is huge!! She smiles, laughs, and does high fives with everyone!
Mackenzie is the baby of the extended family, and much loved by all. Her face lights up when she sees her big brother and four cousins. She just loves them! They all pay her lots of attention, and are very gentle and affectionate with her. She loves the water too – in the pool, the bath, the beach or even a tub of water in the back yard. From the moment she is in water she splashes, smiles, laughs and generally has a ball. She loves being a part of social outings and camping trips, and wearing pretty clothes in her favourite colours of pink and purple. She is truly a little hero.
She is our little princess … We believe she was sent to us for a reason … from the very start she has proven just how strong she is both inside and out
You can purchase prints of Mackenzie’s artwork here.
| Cori Williams