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In May 2009 I gave birth to our firstborn, a daughter we named Lucia. Ten 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). After a few days we left the hospital. Lucia was slightly yellow, and had a rash. She weighed 5lbs 12oz. The medical staff was 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 she 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. There were no life threatening problems and 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 narrow esophagus and that 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 22q.11.2 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 are still outstanding to date. Lucia also had a line down the centre 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 trigonocephaly. She is due for a craniofacial/neurosurgical appointment in England next month, forced though by her dad. That feeling of having to self-diagnose Lucia was here 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! Lucia is also medically waiting on an ENT appointment, an assessment at the autistic unit, a video x-ray at a cleft palate unit. Her little life revolves around appointments and we currently have at least two or three per week. In June 2013, we discovered Lucia’s 22Q WAS “de novo”. 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.

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