OLIVIA

Livvy Syndrome No More!

Olivia was born in November 2008 at 36.4 weeks after a stressful pregnancy with bleeding plus concerns regarding her head circumference and length of limbs. When she was born, she weighed 3.4kg and the Midwife comments were “appearance of a full-term baby” with a large head 38cm – we put that down to lots of people on both sides of the family having large head circumferences. Within the first month of her life Livvy showed signs of failure to thrive, bossing of the forehead and the head circumference was well and truly off the charts. She giggled and smiled and was the perfect sleeper with minimal crying – little did we know what was to come.

Being told by our midwife at 6 weeks old “not to worry but I have booked an appointment with a paediatric neurologist” should have sent alarm bells off but we are not ones to panic. We took it in and went along only to then be referred on to another neurologist at Auckland’s Starship Children’s Hospital as the first neurologist had no explanation for the symptoms but knew things weren’t right.

The first potential diagnosis we received was Vein of Galen and we were urgently admitted to hospital for tests. Not knowing what Vein of Galen was, we googled it, then went through two nights of no sleep before the MRI confirmed it wasn’t. After further tests (bloods, scans, ECG and numerous appointments) and potential diagnoses which followed us googling, stress and same result as Vein of Galen, the neurologist was at a blank, we were referred on to a geneticist within the same hospital. Our first appointment with the geneticist, we spent two hours in the office been questioned on just about everything including our family history. Genetic testing started in 2009 and we were told they were going to target certain genes that could give them information about what is causing all Olivia’s problems. We left the meeting feeling like there was real potential for a diagnosis of Sotos Syndrome, googled the potential diagnosis and thought it would come back positive. The response was negative and our hearts sank – we were back in the world of the unknown. At about this time when we were asked what was wrong with Olivia, we either called her a beluga baby because of the frontal bossing, pale complexion and skinny body resembling a Beluga Whale or she had Livvy Syndrome (not many people have heard about it as she was the only person in the world with it!)

Well this was going on in the background Livvy struggled with putting weight on, hypotonia, lazy eye, numerous ear infections, prone to illness, not able to sit without support, no verbal communication like goos or gaas and the head circumference still increasing. We were we treating the symptoms with physiotherapy, SLT (speech therapy), riding for the disabled, plus lots of antibiotics. When she got sick, we would worry if her body could cope. However, her happy persona stayed and she would talk with her eyes. She also would eat anything and as she was underweight, we let her. In 2012, at 4.5 years old, Livvy took her first steps pushing a baby trolley.

After 4 years of testing, in 2013 the geneticist said that she was going to stop genetic testing at this time as she was struggling to come up with proposals to seek funds for testing. The last round cost about US$100k (lucky the govt paid). She also said in 5 years’ time technology would have improved so they would be able to carry out more detailed genetic testing. She explained genetic testing was a bit like a river bed, they had basically picked up the big rocks and had investigated, then looked at the pebbles and found nothing. The next step was to look through the gravel and sand and unfortunately, they didn’t have the technology for that at that time.

So Livvy Syndrome lived on. Things settled over the next couple of years with Olivia attending a special school in a satellite class within a neurotypical school. The symptoms kept increasing with ADHD, hyper social, lactose intolerant, excessive drooling etc and we coped with it on a day to day basis. We attending each medical appointment as it came and sought out strategies to help her lead a “normal life”, which in reality isn’t what we thought would be normal when we started this journey.

In 2019, puberty hit us with a wham. Livvy had a massive growth spurt plus the medication she was on makes her hungry, she went from being under weight to being 150cm and weighing 60+ kg, she was now being considered Obese – to date the growth has continued though we now padlock the food cupboards and fridge to try and restrict her food intake.

In late 2019,  we received a call from the Geneticist saying did we want to go back into testing again – we jumped at the idea and as she was having an operation the next day (to remove her lower saliva glands). I organised that bloods could be taken while she was under GA (general anaesthesia).

Three days before Christmas, we were out shopping and dropping off the last of thank you gifts to people who have been involved with Olivia during the year, when I got a phone call from the geneticist. She said there had been a result and do we want to hear it. We said definitely and then was told Olivia has Smith-Kingsmore Syndrome. She couldn’t tell us much about it as she had never heard about it and googled it before calling us. We talked through the result and after the phone call finished, we both sat in the car googling about the Syndrome.

When we read through stories and got on the Facebook group, we sat in awe at the similarities between what others had gone through and what we had faced. It was the best Christmas present we could get.

So 3 months down the track things haven’t changed much for Liv, she is still her bright, friendly self with the intelligence of a 5 year old now in an adult body, life for her hasn’t changed with the diagnosis but for us as her parents we feel we have found a community who are supportive, understand what we have and are going through plus keen to find out as much about our little angels as we do. We can see some people have already been through some of the trials and triumphs that go along with their little SKS warriors and some are yet to encounter these. We are so happy to finally have this connection and we look forward to learning from you all and offering little bits of learnings we have collected along the way. In New Zealand we have a Maori saying “Kia Kaha” (pronounced key-a car-ha) it means stand strong and is used to support those who might feel the struggle a bit too hard some days. Having a special needs child requires a large amount of love and energy, we give this freely with the knowledge that you may never hear the words “I love you” back. However, you can read your child’s body language and that cheeky smile, that big hug or squeal of joy as you return home is proof that the love is given back.

Written by Adrian & Angela, Olivia’s parents