Connor
On 23rd March 2015 at 5.45am we welcomed our beautiful little boy Connor into the world, he hardly cried, just made little murmurs and I rocked his crib and off he went to sleep, He was just perfect even though he was born with a red mark on his eye and a turned foot. Whilst in hospital he was examined by 2 doctors for these minor flaws. On discharge a pulse ox metre test was carried out to check his blood co2 levels and these were found to be not reading correctly, another device was used and they read the same and he was immediately taken away He was 13 hours old at this point. We had no idea at what was wrong with him, all the hospital said was that there was a problem with either his heart or his lungs. I didn't quite believe there was anything seriously wrong with him until I saw him in the NICU in an incubator, given oxygen and drugs to keep him alive. It was heartbreaking to see and it was then that I crumbled
He was transferred to Birmingham Childrens hospital the following day where he was diagnosed with pulmonary atresia with VSD. At 4 days old he underwent a failed cardiac catheter procedure to stent the artery but this resulted in open heart surgery to fit a BT shunt the following day. During initial meetings with members of the cardiology team and a cardiac liaison nurse we were asked if they could test Connor for a genetic disorder as Connors heart condition was common in Di George syndrome patients. We had never heard of this condition and didn't understand genetic testing but as they were saving our babies life I agreed to whatever tests they needed to do.
Whilst recovering from his surgery and on HDU we were taken to a room and given confirmation that Connor had also been diagnosed with Di George syndrome. My whole world fell apart. Not only was he born with a broken heart he has a genetic condition I hadn't even heard of and nobody could tell us what his outcomes would be. I went back to his bed space and looked at my baby boy and thought how can someone look so perfect on the outside but so broken on the in?? There were people to help repair his broken heart but no-one could give him back the missing piece of his puzzle. That is when our 22q journey started
Connor continued to recover well from his heart surgery and left hospital when he was 5 weeks old
Once we were home our feet didn’t seem to hit the floor. It seemed like appointment, after appointment after appointment.
We met with a lady from genetics who discussed Connors condition and offered us the option of having us as a family also tested, I already blamed myself for Connor being born poorly (this I now understand was not my fault) and it wouldn't have made any difference to either myself or my partner and I didn't really want to know anyway so I declined
We were told kidneys were often affected by Di George so he underwent a kidney scan, and passed this with flying colours
We had an immunology appointment and again he smashed this as his immune system they classed as "normal"
Ears also cause problems in Di George patients and he was under the care of audiology for around 2 years, but as they were happy with the state of his hearing we have now been discharged
Regarding his turned foot, I spoke about when he was born, he was graded 5.5 out of 6 and was diagnosis with right foot talipes. He underwent 7 weekly casts, a tenotomy to release the tendon, a further 3 week cast which was followed by boots and bars. This was a tough journey for me. I hated the casts so much and felt conscious about him wearing the boots and bars, but they they got a little easier to deal with once we went to night time wear only. He no longer has to wear an ADM (abduction dorsiflection mechanism) but needs special orthopaedic shoes for daytime wear. He is still currently under physio.
And the red mark on his eye, just seemed to disappear. I believe his foot and his eye saved his life as he would have been discharged alot sooner if we hadn't been waiting to see the doctors. The ductus arteriosus in the heart which starts to close soon after baby is born would have been more open so they may not have picked up the low oxygen levels when they did their test
We feel very lucky that Connor only seems to be mildly affected by his Di George, the main issue he has is his heart, he underwent a cardiac catheter procedure at 11 months to stent his BT shunt and his 2nd open heart surgery when he was 18 months old. 4 hours post surgery and back in PICU he fell into difficulty and had to be reopened as an emergency. The team at BCH managed to get his bleeds under control and after 11 days he was allowed home. Our strong little boy just truly amazes us
His is monitored every 6 months at heart outpatient clinic and will require further heart surgery as he gets older
He has a slight development delay and receives 1:1 support with full EHCP within a mainstream school, and he has issues with his speech so is undergoing speech and language therapy. He has recently been seen by palate investigation team at BCH where they carried out a moving xray. His speech thanks to therapy is improving but the Xray result shows his soft palate does not always work fully. He is to continue with SALT and will be reassessed with another Xray at a later date
Connor suffers from a low calcium level, again we have been told this is common with the condition and takes calcium syrup on a daily basis
Back in the beginning I told very few people about Connors 22q, how could I explain to people what he had when I didn't really understand or know myself. Now I am happy to talk about this amazing little boy I get to call my son. Yes at the beginning it was tough, really tough, there were highs and there were lows, but for now the waters are calmer.
Our journey will always have its ups and downs but he is the most loving little boy, a proper cheeky character and lovable rogue, with an infectious laugh and a smile to brighten the darkest of days. I wouldn't change a single thing about him. He stole my heart and all those he meets he steals theirs too
Mom. Sharon.
