Providing information and support to families caring for a child with an undiagnosed or rare genetic condition.
Heidi-May is a gorgeous 5-year-old girl. She is gentle, stoic, intelligent and has beautiful peaches and cream skin, ginger locks and bright blue eyes. She is blessed with a loving family: mum (Belinda), dad (Shane), little sister (Isabelle), and their puppy Bailey.
Unfortunately, Heidi-May’s flawless looks mask a spate of health problems that have all the doctors in Australia and around the world baffled.
Heidi-May has been diagnosed with congenital micrognathia with bilateral temporomandibular joint ankyloses, requiring a tracheostomy and PEG tube, plus other medical conditions. A big condition for a little girl.
Heidi-May not only has micrognathia, which means her lower jaw has stopped growing, she also has a very rare jaw condition, which resulted in her skull and jawbones once being fused together. This prevented her from opening her mouth, eating and breathing. The muscles and joints in her face also required treatment.
Over the last four years, Heidi-May has gone through multiple major and minor surgeries. In October 2020, she had surgery to un-fuse her skull and jawbones. After a few major scares, the surgery was a huge success, and for the first time at five years of age, Heidi-May can open her mouth and eat and drink – things we all take for granted.
This is the first case in Australia and possibly the world where this has been done. The Genetics Team at Perth Children Hospital (PCH) and a US team advised us that, unfortunately, they may never be able to truly provide an accurate diagnosis or understanding of why Heidi-May has these conditions.
The Diagnosis Journey
Heidi-May was born in August 2015. It took over 15 months and 10 different doctors to reach a diagnose for Heidi-May’s condition and to fully comprehend how life-threatening it was. No doctor considered looking at her jaw as they all believed she had viruses and asthma – neither of which were correct. At that point in time, her condition was becoming more serious and urgent action was required. Private specialists were called, and finally, someone heeded our concerns. Heidi-May’s first diagnosis was Micrognathia (a small jaw) along with other life-threatening conditions.
A few months after being diagnosed, Heidi-May’s surgeon went over to the USA to conduct research. Five other countries started to get involved. In the meantime, Heid-May’s poor little body was slowly shutting down and the oxygen level to her brain and body was decreasing by the day.
In April 2017, Heidi-May required emergency surgery to have a tracheostomy and PEG put in to save her life. Heidi-May requires 24 hour care to keep her airway open to breathe, and to give her medicine and feeds through her PEG every six hours. At the time of Heidi-May’s surgery, this was not considered a disability. After much negotiating and lobbying the State and Federal Governments, tracheostomies are now recognised as a disability and now Heidi-May and other families around WA can get the support they need to live a more comfortable and supported life.
In July 2017, Heidi-May had her second operation where the surgeons broke her lower jaw in two places and inserted some metal “jacks”. These two metals bolts came from her lower jaw to the outside of her face and required cleaning and turning every twelve hours for 25 days to push her lower jaw out. As you can imagine, the pain from moving bone is extremely difficult to explain to at that time a 2-year-old. Then the pins were cut off and Heidi-May’s mouth “wired” shut to help her jaw bone get strong and to rest.
The support network, both medical and emotional, around us as we learnt how to look after Heidi-May and how to look after her pins went over and above to help us go through this very hard stage. Without the support and help of the nurses, Heidi-May would not have been able to go home. I was struggling mentally seeing our beautiful little girl with bolts coming out of her face and having to put her through so much pain twice a day to extend her jaw was so heartbreaking. At the same time, I decided to stop breastfeeding my baby girl Isabelle (10 months at the time), and as any mum would know, that alone is hard enough let alone trying to help our sick child. As I have told all our support workers, I saw them as “Mary Poppins”: they would come in, and this black cloud would lift off over our head and both our girls adored them all and loved spending time with them. This made my life 100 times easier to deal with.
In April 2018, Heidi-May had to go through the jaw distractor surgery again as in between those nine months her body had a huge growth spurt and pushed her lower jaw back again. We had to go through another 25 days of pin turning every 12 hours.
This time around was so much harder as Heidi-May was getting to the age where she was more aware and the pain and discomfort was just too much for her. But we had to be strong and continue with the pin turning.
Over the next eight months Heidi-May’s health went down dramatically, and she became very sick. She was in and out of hospital all the time. The doctors yet again could not work out why her health was declining so quickly. She was vomiting through her tracheostomy all the time (as she was not able to open her mouth to vomit) and wasn’t able to handle any of her PEG feeds. The scariest part was that Heidi-May was vomiting in her sleep and it was becoming a huge choking hazard. Due to the pressure she was putting on her jaw from trying to vomit through her mouth, she broke her jaw.
Heidi-May’s little body was slowly starting to shut down and her bowels had stopped working. Her mental state also started to go downhill. As a family, we decided to try Botox in her bowels to help start releasing some of the pressure in her stomach, and in June 2018, Heidi-May went in for bowel surgery to try and work out why her bowels stopped working. Post-surgery, there were still no signs of improvement – we just had to take one day at a time and try and make her feel as comfortable as possible.
In August 2018, the day after her 3rd Birthday, it was time to see if the plastic surgeons at PCH could start un-fusing her skull and jaw bone. This process involves cutting some of the bone away from her skull and jaw, and inserting some cartilage from other parts of her body. They also needed to see if they could fix up her muscles and joints in her face, as well as take out her jaw distractors from her previous surgery.
Unfortunately, when the surgeons starting taking out her jaw distractors, they could see her jaw bone did not look right so they took a bone sample and sent it off to the lab for testing. This meant having to stitch her back up as they could not continue on with the surgery.
After a few days the results came back and we found out she had Chronic Osteomyelitis, which is a deadly bone disease, and that this was what was making her so ill for the previous nine months. Straight away Heidi-May was put on strong antibiotics and the 3-6-month treatment process began.
Once Heidi-May had recovered sufficiently, she was able to undergo the surgery to un-fuse her skull and jaw bones in October 2020 to unfused her skull and jaw bones- a journey spanning more than for years to achieve something that we all take for granted: being able to open her mouth to eat and breath normally.
Heidi-May’s condition can also affect her growth, hearing and eye sight which requires constant ongoing monitoring.
The Other Side Effects of Heidi-May’s Condition
The emotional, physical and mental struggle that our family has been through, and continues to go through, is nothing but exhausting.
Due to all these abnormal facial differences, as a family, we found it very difficult and felt isolated from the community. After years of communicating and educating people in the community, we now feel we belong.
We also had many companies support us throughout our journey and some of these companies truly have been a life saver for us and I don’t know where we would be if it wasn’t for all the help from all the doctors/nurses and support workers. Not only were they there for Heidi-May, they were there for our whole family: for respite, and for the physical and mental support. Having the correct support system around you makes a huge difference. Now we are self-managing Heidi-May’s plan, we have some amazing private support which allows Heidi-May to go to a public school where she is fully supported and now thriving. I can now be a mum to Heidi-May again and not feel like I am a nurse/carer for her.
As most families know, when your life throws you curve balls, you have no choice but to stand strong and fight with both hands. Due to our very unique circumstance, I had no choice but to start to research the world to get the correct support and to find answers to help our situation. In fact, I looked for anything that could give me comfort, helping not only my family but other families of children with complex needs.
Giving Back by Helping Others
As a result of Heidi-May’s journey there are things that have become important for me and my family. I value the importance of raising awareness on inequalities and advocating for those who can’t, being a resource to assist families with disabilities and complex health issues, identifying gaps in essential services, and partnering with relevant community agencies who work to support families like ours. I sit on the Board of Kalparrin, I am a member of FaceUp Inc and I work at Valued Lives, an agency that supports families with disabilities.
My experiences have enabled me to get support for my family, as well as getting support for and from others walking the same path.
I am getting behind the face equality campaign because I am hoping for a world where children like our beautiful Heidi-May are accepted for who they are and not treated differently.
 A tracheostomy is a tube inserted into the windpipe (trachea) through a surgically created opening or hole in the neck called a stoma, via a tracheotomy operation.
 A PEG stands for percutaneous endoscopic gastrostomy, a procedure in which a flexible feeding tube is placed through the abdominal wall and into the stomach to allow nutrition, fluids and/or medications to be put directly into the stomach, bypassing the mouth and oesophagus.