In May 2009 I gave birth to our firstborn, a daughter we named Lucia. Eeleven days late via emergency c/section, she weighed in at 6lbs 4oz. She was simply amazing and we could not keep our eyes off her! Lucia has a sister Minnie (2011) and a brother Otis (2012). Lucia was slightly yellow, and had a rash. She weighed 5lbs 12oz. The medical staff were not too worried that she was struggling to feed
, and as she was our first child, we had no idea anything was amiss. As she developed Lucia rarely smiled or laughed and made very little noise in general, even her cry was just a little squeak! Lucia rarely made eye contact with us, and had problems passing solids. She stayed very small, and continued to eat small amounts, was difficult to wean and would choke on solid foods. With Lucia there was no obvious (to us) urgent life threatening medical issues and yet though these individual issues were known to those medically involved in her life, nothing was ever said that might make us think she was anything other than “typical”. Before Lucia turned two I took her to our health visitor and told them I had concerns about her speech and language development. She was referred to a team of multi-disciplinary doctors and specialists for review and six months later we had our first appointment. Lucia was sent for a video x-ray of her throat, she had Speech Therapy and Occupational Therapy appointments arranged for assessment. Lucia’s video x-ray showed she had a slow transition of food through her esophagus and so she had difficulty in swallowing food. I felt a dissociated concern that she was now 2.5 years old and we were only finding this out. Lucia’s speech and language continued to become significantly delayed and as a routine check her bloods were taken a year later. I noticed on the blood consent form the term “22Q” and did my initial research as soon as I came home. I was overcome when I discovered two girls, who lived on the other side of the world, who looked exactly like my daughter. I could not wrap my head around this fact. The more I researched the more I knew in my gut that the results would come back with a diagnosis. All of Lucia’s little issues, not being able to get her walking shoes due to her feet being too small, her see-through skin, her constant viral infections, her size, her wonderful mane of hair and so many other things, fell into an answer. In January 2013, a few months short of her 4th birthday Anders and I were told that Lucia had 22q11.2 deletion Syndrome. Lucia’s diagnoses started the ball rolling on more specific tests. Kidney ultra sound confirmed normal kidneys but an enlarged bladder. Heart tests cleared her of any 22q related heart defects. Lucia always had a "line" down the center of her head, it had been there since birth and was just something we took as part of Lucia, but when we started questioning everything we discovered it was a metopic ridge and that she had indicators of a condition called metopic craniosyostosis with trigonocephaly. The feeling of having to self-diagnose Lucia was reared again and we felt aggrieved and devastated that we needed to know more about 22q and the possible side effects than her own specialist doctors! She was officially diagnosed with this in August 2013 at the John Radcliffe Hospital in Oxford. Lucia shows behavioural indicators of Autism and is currently being assessed. She also sensory processing disorder which plays a significant role in her daily life. She continues to have frequent viral infections although her immune system has not yet been tested. She was diagnosed with Kyphosis (curve in her spine). This curve is being monitored every 6 months. Lucia has Hypotonia - low muscle tone which effects swallowing, walking, toileting and talking, that we know off. Lucia has sever speech and language delays. She is under review at the cleft palate clinic. She has little folded ears which are another subtle hint at her genetic structure. This list is not exhaustive and continues to grow seemingly by the month but I know that through this it might give others a sense of understanding or enlightenment. In June 2013, we discovered Lucia’s 22Q WAS “de novo”. It was not passed down from me or her dad. I knew I would have carried guilt had it not been, and at the same time I despaired that her 22Q was seemingly from nowhere. Lucia is a wonderfully affectionate little girl, everyone who meets her can see she is determined, self possessed and lovable on so many levels. Although she is diagnostically at the start of her 22Q journey, we are blessed to have a form of knowledge and understanding as to why she is developing the way she is. We don’t live in a country where genetic understanding is in any way at the forefront of discovery but we do have the wider circle of social media and websites like this one which help give insights and understanding we could never have hoped for a few decades ago. Lucia’s story is going to be much more complex both physically and emotionally. I hope that she can find comfort from God when she needs to and emotional support from other 22Q children and families who will share their stories with her if she chooses. In an effort to raise awareness, we set up 22q11 NI with help and information from 22q11 Ireland and the Max Appeal we provide a local support to families affected by 22q as well as other genetic syndromes. If you would like any more information, help or support or would like to help with fund raising please contact us on
call or text on 07743554114
email [email protected]
