Lily's
Story

Lily was born in 2017 a very much wanted and only child conceived through IVF. We were not aware that there were any concerns or issues with Lily during pregnancy, or immediately after birth although a midwife did note that she was favouring her left side at birth and there was some hip dysplasia. Lily was also fully tongue tied but otherwise nothing was noted and we went home with our baby. Once home, we noticed that Lily cried a lot and moved around as if in discomfort. She would projectile vomit and seemed uncomfortable, so we frequently took her to the hospital and were eventually told that it was reflux and she had a severe cow’s milk protein allergy. Her milk was changed, and she settled but we could see that something still did not appear right. Lily then had Torticollis and could not turn her head which led to plagiocephaly and she received physiotherapy. However when this was resolved there were still concerns as Lily was very floppy and her physiotherapist indicated that she would require ongoing treatment . The other thing with Lily was that she did not sleep for long periods and we were exhausted. We were told this was the same for all babies and it would improve but it never did and until this day she is still not a good sleeper and we are often up during the night. We were persistent in trying to find out what was wrong with Lily against medical professionals who did not appear to recognise our concerns and I was often made to feel uncomfortable and judged. We had a health visitor at the time who said to us that it was not normal for a baby to move like Lily was moving, as if in discomfort, and our GP also said it was not right for a baby to “cry like that.” Yet the nurses and doctors at the hospital were dismissive and I was informed that Lily was not unwell and there was an inference that I was just tired and may have postnatal depression and a referral to social care was even mentioned. Visitors who came to see me were asked if I had any family to support me and I was made to feel inadequate, however we knew we had to do whatever it took to get Lily the care she needed. We did not know at the time however what Lily had, and the extent to which it would impact her as she was still a baby in arms. At around 6 months old Lily had an MRI scan that showed that she had low white brain matter and this is when the reality started to set in with us that Lily had something potentially more serious. Lily was subsequently misdiagnosed with Cerebral Palsy and then there was a suggestion that she could have Muscular Dystrophy but then the MRI scans were sent to Great Ormond Street Hospital and they were able to confirm that the brain scans and low white brain matter were due to a genetic condition albeit they did not know which one even though Lily had distinctive facial and physical features including long fingers and long slim feet. We were told by medical professionals that they would treat what they see in the absence of a diagnosis and Lily was known as a SWAN child (Syndromes Without A Name). We continued to attend many appointments over the next few years and we were introduced to the world of special needs children and Lily continued to receive physiotherapy. It was not until Lily was 5 years old, in 2022, that we eventually received a diagnosis from Great Ormond Street Hospital following a national genomic testing program. The Genetic Specialist informed us that Lily had TUBB3 related disorder. ("cortical dysplasia, complex, with other brain malformations 1"). The impact of the condition means that Lily is unable to sit unsupported, she cannot stand or walk and she is only able to eat puree foods. Lily is now on a NG tube awaiting a gastric tube to be fitted. Lily can say mama and dada and she babbles like a baby. Lily will be 8 years old in May 2025 however her severe development delay means she has the intellectual capabilities of a 12 to 15 month old baby. Lily is also visually impaired due to a small visual pathway from the brain and she suffers what seems like constant eye infections as she does not produce tears like other children. Lily also has significant scoliosis of the spine and she has had special body suits to help her posture, We have also been told that Lily will need Botox injections in the back of her hamstrings to help her straighten her legs and she grinds her teeth for sensory feedback which has meant she has lost quite a few of them. Lily experiences absences and we have been told she will be prone to seizures. The list of conditions seems endless. Lily is a beautiful soul but there have been some behaviour issues too and we have wondered if she has some autistic traits as she sometimes gets extremely upset with certain things like a phone ringing or if we stop in traffic. It has been quite a journey and we have come to terms with the severity of Lily’s disabilities but still struggle emotionally with the impact this will have on her life. It is a journey that we continue as we discover other medical conditions that become more obvious as Lily gets older due to TUBB3. We have good periods but also times when we seem to be constantly back and forth to the hospitals. Throughout all this, Lily has been courageous and inspirational and her smile lights up any room. Lily has many challenges, and she endures more than most children and adults will ever but she is happy and very much loved and cherished by me and her daddy. We wish we could make things better and easier for Lily but we would not change our beautiful girl for the world. We feel very proud and blessed to be her parents and hope that by sharing our story it will raise awareness and support.