Lilli's Story: My Craniofrontalnasal Dysplasia Journey

Hi my name is Lilli and this is my story. Twenty four years ago I was born with Craniofrontalnasal Dysplasia. Mum and Dad tell how when I was born my left eye wouldn’t open and they noticed that my forehead was an odd shape but thought that may have been from coming through the birth canal. Not long after my birth the doctors took me from my parents, and straight into a room away from them to thoroughly examine me. When I was brought back to my parents the doctors said that someone would be in to see us. The next day a paediatrician came in to see me and examined me all over again and then turned to the nurse and told her to organise for us to be transferred to The Royal Children’s Hospital Melbourne, Victoria. So, at just three days old I was transferred to the Intensive Care Unit for what was the beginning of my long association with The Royal Children’s Hospital and my journey with Craniofrontalnasal Dysplasia (or CFND for short).

CFND is a condition caused by a mutation on the EFNB1 gene which is located on the X chromosome. This gene mutation is very rare and can be inherited from a parent or be the result of a sporadic mutation. CFND can be categorised by abnormalities of the head and face, hands and feet and certain skeletal bones. Females with Craniofrontalnasal Dysplasia usually have thick, course curly hair that appears at 2-3 months of age.

In my case, CFND developed when a gene became mutant during my mother’s pregnancy which caused my skull to fuse together too early, along with many other medical issues. Some abnormalities I deal with are: sight - no peripheral vision and limited depth perception, low hearing, kidney reflux, a twisted cerebellum (which is the part of the brain that controls balance), high pallet, extra teeth and fused teeth, breathing difficulties, crossed toes, widely spaced eyes, nails that split down the centre, short term memory loss, lack of muscle tone, webbed neck and shoulders, curved spine, open anterior bite (which left me with an 8mm gap at the front of my mouth so eating was difficult), and benign positional vertigo just to name a few.

So, you can imagine all the different doctors, specialists, nurses and support staff that are required to make up a team when you have so much going on, not to mention at the time of my birth I was only the fourth reported case here in Australia to have CFND.

For the first three years of my life mum and I made the four hour round trip to The Royal Children’s Hospital three to four times a week. As I got older the trips grew further apart and I had a consistent team who had started to work closely together so I could have multiple appointments on the same day. I have already undergone five major surgeries and over sixty minor surgeries to date with talk of another jaw surgery and an upcoming Rhinoplasty (nose) surgery in March 2021.

My very first major surgery was when I was just eight months old to release pressure from my brain and open up my skull, while doing that the doctors also made my eyes even as I was very asymmetrical.  My second major surgery was at the age of 5, where again the doctors released pressure from my brain by opening up my skull, and they also moved my eyes closer together.

My third major surgery was when I was 16 on my jaw. I had both my bottom and top jaws broken were they also tilted my top jaw and bought my bottom jaw forward a little bit to make my teeth come closer together and to have a proper bite. They then decided to insert an implant in my chin because otherwise my chin would have looked quite flat and not well shaped. Before this was done, I had an 8mm gap in between my teeth and only my very back teeth touched so it was very difficult to eat. I had worn braces for three years prior to the surgery and had them for a further two years after the surgery (5 years total). The day my braces came off was a day we all celebrated as a family because it was a very long process! However, it is looking like I may have to go down the braces path again sometime soon which will be just another little hurdle to cross.

My fourth major surgery was in June 2016, a month before my 20th birthday and was by far one of the most painful I have been through. I had my nose reconstructed. As the bridge of my nose was quite flat, they took a piece of my rib to re-build and shape my nose to help make it look like I have more of a defined bridge and to help my breathing. My surgeons also found a benign cyst at the front of my head when doing all the preparation work for this surgery, so I had that removed at the same time and what we thought was just a tiny little cyst turned out to be the size of a golf ball! For my first, second and fourth major surgery they had cut me across the top of my head from ear to ear, thankfully my team never shaved my hair as that was one of my biggest fears.

Due to having a rib removed for my nose I had a very sore side along with my head being cut open and a battered nose, it wasn’t a pretty sight. I didn’t allow for many visitors other than family during that week and a half stay in hospital and if it wasn’t medically necessary, I certainly wouldn’t recommend it. Unfortunately, this surgery wasn’t as successful as we had hoped and has resulted in me going through another surgery on my nose in March 2021. My last major surgery to date was in September 2019, and was another reconstructive surgery but on another part of my body other than my face that hadn’t formed properly and it has been a huge success. This was my first ever surgery not at the Royal Children’s Hospital and was definitely a bit daunting as I always had my mum who stayed in the hospital with me and who never ever left my side.

It was scary to watch my mum walk out of my room that night because I just wanted to not feel alone, and my anxiety flared over it but with the care of my nurses I got through it and I believe I will be better next time. Some minor surgeries have included hernias and grommets and even to have teeth surgically removed or cut out of my mouth due to having extra sets of teeth – these types of surgeries for me were surgeries that were easy as I was only away from my family for an hour or two rather than 16 hours.

I’m not going to say that each surgery has been easy because that is honestly the biggest lie. All of my surgeries and procedures that I have undergone have been stressful, emotional and painful. Hospital for some people can be a daunting place let alone surgery. For me I have always felt safe and protected in hospital especially with the level of care I receive. Going through all these surgeries not only affects you mentally but physically and emotionally as well, especially when it comes to the time of having to leave your family and go into theatre.

Even though I have had a number of struggles [and surgeries] in my lifetime, I wouldn’t change it for anything. All my struggles that I am faced with have helped make me become the strong, resilient and positive person that I am today.

Of course, my schooling was interrupted a fair bit due to surgeries, appointments and illness but I loved going to school despite much bullying and I had an amazing group of friends who were always there for me and supported me.  Surgery gave me setbacks in the amount of time away from school I had which made it harder for me to keep up to date with my school work and has taken time away from spending much loved time with my family and friends and doing the things I love the most.

At the age of three I was enrolled into dance and it was one of the best things ever, remember this girl has a lack of muscle tone and a twisted cerebellum so my balance isn’t the best. At the start I would fall over lots, but I always got back up and my legs were always covered in bruises.  At the age of 11 Mum and Dad finally allowed me to play netball after constantly begging them. Like dancing, netball has been one of the best things for me; it has helped with my muscle tone, balance and confidence as well as my social skills. I have made some great friends through dancing and netball and like the dancing community have felt so accepted by everyone at the Football/Netball Club I am a part of.

Since graduating year 12 in 2014 and completing my year 12 exams and getting an ATAR that I was proud of due to always struggling academically I have achieved more than I could ever imagine. Life after school for me has looked a bit like this: I completed a two year Community Services Work Tafe course where I gained my Certificate IV and Diploma in Community Services Work and my Certificate IV in Alcohol & Other Drugs and Mental Health, was granted a wish from the “Make a Wish Foundation” after an anonymous person nominated me, and became an Ambassador for the Starlight Children’s Foundation” after being contacted directly by the head office in Melbourne.

With all the time I spent at the Royal Children’s Hospital growing up, I had a dream and mission to give back to a place that changed my life, so I jumped at an incredible opportunity four years ago and became a volunteer at The Royal Children’s Hospital, Melbourne. It has been one of the best decisions I have ever made and the most rewarding thing to be a part of!

I’m also now a mentor at The Royal Children’s Hospital to children and their families who are going through the same or similar life situations that I went through and continue to go through to this day. I find this to be again like volunteering so rewarding and can’t thank the people behind this opportunity enough for allowing me to be a part of something special and lastly, I am now a Motivational Speaker.

My goal in life is to be that girl who stands up to share her story and is told “because of you, I didn’t give up!”

Right now in my life I am juggling  volunteering, being a Star Ambassador, Mentor and Motivational Speaker, while still maintaining a social life, working full time at a Real Estate Agency, and playing netball for a local Football/Netball Club. I’m obsessed with fitness and absolutely love to run. I play the ukulele and absolutely love spending time with my family and friends.

From a young age I have always dreamt to work at The Royal Children’s Hospital. Having been a past patient, a volunteer and mentor, I know in my heart this hospital is my life and a place where I belong in helping others and changing young lives. I have a dream and goal to go back to studying in coming years to fulfil that childhood dream in becoming a Nurse. I am determined that I will become the Motivational Speaker I am working hard to be by sharing my story to help make a difference to this world that we live in and embrace the lives of others who face their own personal difficulties in the world and simply be that person who inspires those around me.

What I have been through and what still lies ahead is the unknown but none of this has stopped me from chasing my dreams for my future.

I’m seen to be the positive, bubbly and outgoing person, but deep down I am quite shy and timid, especially when it comes to talking about myself. I suffer from a lack of self-confidence majority of the time and do have struggles with my mental health especially severe Anxiety that started from a very young age.  But to me, these are only small hurdles that won’t get in the way of my dreams.

Something I have learnt over the years is not to let anything or anyone stand in your way or stop you from doing the things that you love and chasing your dreams which has shaped me into the hard working and determined person that I am today.

I seriously wouldn’t be the person that I am today if it wasn’t for my Craniofacial team and for my loving and supportive family and friends who are consistently encouraging and pushing me everyday to strive for my very best and to achieve my goals that I have set for myself.

My parents never hid me away from the outside world and nor they should have to because I am human just like everyone else. Outsiders who don’t know me or who don’t know my story used to tell my parents that I wouldn’t get very far in life, but I think that’s just a big kick in the face to them because I have proved a lot of people wrong over my journey so far and still am to this day!

I look at myself in the mirror and yes, I do see a completely different person than say what my brother or mum and dad see in themselves. But it’s me. I have two eyes, two ears, two arms, two legs, two hands, two feet, a nose and a mouth just like everybody else. I am still human; I just look a little bit different and that’s okay. 

Would I change the way I look? If you were to ask me that say ten years ago, I would have probably said yes. But today there is absolutely no way that I would change the way I look.

I’m a true believer in everything happens for a reason. There was a perfectly good reason why god made me the way I am. Everyone has a story to tell and a purpose they want to serve and all I want to do is own my story like a boss. Self-care and self-love are extremely important to me and I had to learn to love me for me and not worry about how others perceive me. I certainly don’t have room in my head or heart for the negativity from others towards me.

Much love, Lilli x

Lilli Sim is a Mentor and Motivational Speaker, sharing her story about life with Craniofrontalnasal Dysplasia (CFND).