News & Events

Introducing Lillyana

Last Reviewed 13/04/2017

By swan uk member, cassandra okines

Hi, my name is Cassandra and I’m a mum to an undiagnosed child.

I have four children in total. The eldest Samuel is now 18 years old, Analais is nine, Lillyana is nearly three and Rufus the youngest is five months old.

Lillyana is our swan baby! She should have been called Serendipity. Our happy accident. Our Tena lady moment. Whoops! But here she was a little pink line on a stick!

Almost as soon as we got our heads around a new addition, I started to bleed. It seemed like karma wanted to take away the gift we hesitated to receive. An early scan was booked. I attended with my sister resigned to the fact that I had lost my baby. I told her ‘this is the ward dead babies go to. ‘To my surprise, overwhelming relief and joy, she remained - a tiny heartbeat beating within.

So I attended my dating scan appointment as normal at St Thomas’ Hospital. That didn’t go to plan and was the first time we discovered that something could be wrong with our baby. She had a high nuchal reading which along with blood tests put her at high risk of some sort of chromosome disorder. I refused an amniocentesis. And so began the wait to find out if anything would be wrong.

Lilly had regular growth scans and heart scans, which meant me taking the one and a half hour train journey to London on my own while her dad worked.

At 36 weeks a scan revealed reduced blood flow. A checkup was booked for the following week to monitor it and this now showed polyhydramnios. We set a date for the following week for a caesarean. It looked like there was definitely something wrong.

Lilly arrived on 3 July - small for me at 6lbs 6oz. She seemed ok, she had a tongue tie. Although, when checking her stomach on an x-ray, it showed a pneumothorax. It cleared on its own and we were finally allowed home.

We believed she was just an oddity, that the screening meant she was not the one with a disorder. But she didn't put on weight and we ended up in hospital. We discharged ourselves. She slept. All the time. The few minutes she woke she never cried... until after six weeks. Then she didn't stop. She had sandifer seizures and was diagnosed with Gastro-oesophageal reflux disease (GORD). Then at 16 weeks she became ill. She had no symptoms other than a temperature. I took her to the doctor who said it was viral. The next day walking round Tesco she became unresponsive. She didn’t look around or turn to noises. She was white. We took her to A&E where we were immediately admitted. It was the most distressing thing watching them trying to get a line in as her veins were shutting down. We watched as they crushed her tiny body to take fluid from her spine. She had a kidney infection, from her then undiagnosed kidney reflux. It scarred her kidneys and she takes prophylaxis antibiotics every day.

So now the storm seemed to settle. We were on top of her infections, but Lilly carried on proving difficult. She barely grew. Visits to the weight clinic would leave me in tears as she lost weight or plateaued again and again. She was different to my other babies. She wouldn't make eye contact when feeding, she was late smiling and she didn’t move. She cried all the time unless I held her. But not too close. She didn’t care if I was there once I was out of sight. I couldn’t let her play with any of her toys as the bright colours seemed to upset her. And never ever laugh or sneeze, as this would reduce her to tears.

At a year old I was at breaking-point. People would say she would catch up and that it was because of the week in hospital that she was behind. I blamed myself. I questioned my intuition. No one seemed to understand.

My late sister and I called her our little Tyrannosaur as she had such short arms and a funny pigeon chest. We found amusement among the clouds.

She finally started rolling over at 14 months. At 16 months she began to crawl and finally she walked at two years. She had speech therapy and physiotherapy, appointments for her development, for her kidneys, her hips, and her bowels - the list seemed endless.

So here we are today: she is two months off of turning three. She can say a lot. But cannot understand conversation. She replies using echolalia. She can walk holding a hand as she falls constantly. She is on the 0.4th centile for her height. She has a pigeon chest, short neck, long torso, epicanthal folds. She has four missing teeth and the rest are hypermineralised. She is developmentally behind, with sensory issues and likely ASD. Her consultant finally said it was likely that she had an undiagnosed genetic condition.

Lilly is amazing. She is always happy. She doesn't understand emotions. She doesn't like to be touched or stroked which makes her volunteering a cuddle so super special. She has to feel my arm as a sensory thing. But you know, you take every morsel!

It’s been a rollercoaster - a cliché I know. I believe her dad struggled with accepting that something above the norm was wrong. How could someone so perfect be flawed in any way? But he is her champion and is beginning to understand her restrictions.

 

We would love to have a diagnosis. Of course it won't change her. We know that. But maybe there would be some insight into her future. I guess we want that for all our children - a crystal ball.

SWAN UK member, Hana Young opened the world of SWAN UK to me. Her blog kept me amused and humbled. I hope in the future to meet families like ours.

 

WE WANT TO HEAR FROM YOU. IF YOU'D LIKE TO SHARE YOUR STORY PLEASE EMAIL US: 

INFO@UNDIAGNOSED.ORG.UK

TO FIND OUT ABOUT JOINING SWAN UK VISIT: UNDIAGNOSED.ORG.UK/JOIN

Join our community of families

Join us