Being a mother of five and a business owner is hard enough, but on top of all this, Libby Johnson is a tireless advocate for children with disabilities, leading to her being awarded the 2021 Angel of the Year for the Central West Mummy Awards. We had a chat with Libby to find out more about her, and to learn about Prader-Willi Syndrome, the genetic disorder her youngest daughter, Mabel, was diagnosed with in 2017.
Prader-Willi Syndrome (PWS) is a chromosomal disorder on the 15th chromosome. In our pairs of chromosomes, we normally have one from our mother and one from our father. Mabel has two maternal chromosomes and no paternal chromosome. In essence, the missing chromosome causes some of her genes to be switched off and not work. This causes a part of her brain (hypothalamus) not to work properly.
She has a variety of symptoms that we manage very closely. The hallmark feature of PWS is an insatiable appetite (hyperphagia). The signals between the stomach and the brain do not work and people with PWS are unable to feel full despite how much they eat. They also have a reduced metabolism and are at a very high risk of obesity. Interestingly, babies with PWS are not born with the insatiable appetite and for some unknown reason this changes, typically between the ages of 2-8yrs. Mabel currently does not experience hyperphagia and she is on a very strict diet free from sugar and sweet-tasting foods to try and delay the onset, as well as low calories and small portions to control weight gain. Food security is very important to people with PWS and families are constantly hypervigilant to keep them safe.
Mabel keeps us very busy with therapies to help her to achieve simple things most people take for granted. Most weeks she has at least 5-6 therapy appointments such as speech, physio, OT not to mention any medical appointments she may have. This has been hard on our family, especially her siblings as it adds an extra layer of the juggle to a busy household. However, the excitement and joy we all share when she achieves something we have all collectively been working on is so worth it.
Growth Hormone is currently the only known treatment for PWS, to help with short stature, metabolism and body composition. Mabel has a nightly injection of growth hormone that she started as a baby. When Mabel was born, our family, friends and our wonderful community of Orange helped to raise money to kick start a research project that looks at switching on some of the silenced genes on the affected chromosome. This is exciting research that maybe one day will help to eliminate many of the unwanted and cruel symptoms of PWS.
Yes, I own MILC. It is a midwifery and lactation consultancy business that has been running for nearly 10yrs, mainly providing antenatal education, postnatal and breastfeeding support to women and their families in Orange and surrounding towns in the Central West. Our consultant rooms/shop space opened in 2016 and we have our 5th birthday coming up at the end of November.
I am a born and bred local to Orange. I moved away to go to university and start my nursing/midwifery career. My husband is also from Orange and together we moved back in 2006. I have so many fond memories from my childhood and I wanted the same for my children, and we wanted to be close to family. There is so much to love about the Central West, but mostly I love the connections. Stopping for a quick (or long if you ask my kids) hello with so many lovely people around town really makes my day.
