Molly

Age: 8
Duplication: 46,XX,psu idic(4)(q13.1),der(22)t(4,22)(q13.1;p13)[20]dn
                     46,xx,r(4)(::p16.1->q13.1::q13.1->q11),der(22)t(4;22)(q13.1;p13)[14]dn
Lives in: London, UK

Meet Molly, our beautiful daughter, our inspiration. Molly is a very happy social girl who loves her younger brothers, her grandparents and her friends very much. Her strength, determination and bravery is incredible. 

Molly’s journey from birth to today has been a joyful one, filled with lots of love, laughter and strength. But also filled with tears, apprehension and lots of appointments! 
We suspected something was not quite right, with Molly, from her first scan, when her nuchal fold was outside of the normal range, but subsequent scans, which focused on Down’s syndrome suggested that the risk of this was low. She was a very small baby, with a small head and her coordination lagged behind her peers. However we only got a diagnosis when she was six months old - A unique complex chromosome disorder, involving chromosome 4 and 22 is the simplest way of explaining.

There was a long delay between Molly’s blood test and receiving the test results – as the hospital lost the results. This time of uncertainty was possibly the most stressful period. Once we knew, we went through a very brief period of severe anxiety about what the future may hold, but this was rapidly replaced by a sense of purpose to nurture, support and provide for her to the best as we can.
In some ways, not knowing how Molly will develop can be a good thing – preventing us from putting pre-conceived restrictions on her. 

Molly, through her sheer determination, has come on leaps and bounds. When we met with the geneticist’s team, they were amazed to see a smiling six month old baby sitting on my lap, looking very alert. And she continues to defy science - they did not expect Molly to walk or talk. And here we are at eight years of age with her able to have a conversation with me, albeit not the longest or clearest, walk to the shops holding my hand, feed herself breakfast and now she is learning to spell three letter words. 

But of course the road to here has been far from easy. Molly’s main health issue is her refluxing into her lungs. This has been ongoing since she was a baby but only discovered after the fourth hospitalisation for severe pneumonia, around age 3. The first time she was admitted into hospital was just after her first birthday. She has been in hospital for pneumonia seven times and has had two lung lavages to clear out the infections in her lungs. She is under the care of consultants in London and investigations are still on going to see what the cause of her reflux is.

Molly still has significant issues to overcome. She can be very difficult when frustrated or cross (although her stubbornness may be hereditary rather than related to her condition!). She is very sensory seeking - unexpected noises frighten her and absolutely everything goes in her mouth. She is also over attached to her mum and brothers. She has no sense of danger, is incredibly curious and doesn’t recognize boundaries – so you cannot take your eyes off her for a minute. She doesn’t sleep very much. 
But we always try to focus on Molly’s achievements and how far she has come. For example: Molly staring making cooing noises one weekend, at 3 months, and then there was nothing for 2 years. However now she can tell me who was at school and what she would like to do. It took Molly one year to learn the sign “more” (there were tears of joy) and there is no stopping her now – she knows more than me! Molly did not like making eye contact when she was a baby. It was very difficult if you are trying to engage and teach her things. I remember in the early days laying on the floor as she sat playing trying to get some sort of eye contact with her, and now she loves looking at people and loves having her picture taken. Molly began walking just before she was two, following lots of physiotherapy and with the help of adapted shoes. She now walks just fine – albeit with a slightly unusual gait. 

We are not only blessed to have Molly, but also have two sons (4 & 6 years old). Molly loves her brothers deeply and shows great concern when they are not around. The boys make us very proud the way they are both deal with Molly and support her. They have a tremendous sense of responsibility for her and are always keeping an eye out for her to make sure she is safe.  
Yes life, at times, can be very hard, but we are so grateful for the amazing support our wonderful family, friends and community give us. We are truly blessed.