Gabriel’s journey so far… 

I was 32 weeks pregnant when I felt labour-like pains which led me to go and see Bill Smith, a fantastic specialist ultrasound practitioner based in Harley St. Bill
discovered that I was carrying a large amount of additional fluid which was
tricking my body in to thinking I was ready to give birth. Bill also noticed
that Gabriel’s kidneys were dilated and suggested I went to see my birthing
hospital UCH immediately. When I asked why I could be carrying the additional
fluid, Bill mentioned that there were many reasons, one being related to a
syndrome but joked that at this stage in the pregnancy I was more likely to be
hit by a bus on the way home than my baby having a syndrome. Naturally my heart sank. 

The following day, I was in the incredible hands of Professor Donald Pebbles in
Fetal Medicine at UCH having an amniodrainage. Despite feeling quite unsettled,
it was lovely seeing our little baby playing with the tube that had entered his
home. 2 litres of fluid later, it was sent for Array CHG testing. It was an anxious 3 weeks waiting for the results, but Prof. Pebbles and his team scanned Gabriel
thoroughly on many occasions, trying to work out what was causing the
dilatation to his kidneys, keeping a close eye on him and me. It was almost 3
weeks later, at 35 weeks pregnant, I received a text from GOSH genetics
department confirming an apt the following week, a text no one would ever want
to receive. Dan remained positive and called UCH to get an update and it was
later that day that Professor Pebbles called us with the devastating news that
our baby had a syndrome called 22q11.2 Deletion Syndrome, also known as
DiGeorge Syndrome. In simple terms, a deletion of genes on the 22nd chromosome. Needless to say our world shattered around us as we began reading the information readily available on the internet. It's the second most common syndrome to Downs yet very few have ever heard of it. We read all 180+ possible symptoms from major heart and renal abnormalities, palette and feeding issues, weak immune, learning and behavioural issues to abnormal facial and skeletal characteristics and simply sobbed not knowing what was ahead of us. We read countless stories of parents reaching out for help and others justifying their reasons for terminating their unborn baby and couldn't even comprehend that choice yet the fear of the unknown simply tore us apart. The what ifs, buts and maybes was so overwhelming and suffocating. A few days later we found out that our little baby's heart had formed almost perfectly meaning we would not be faced with the unimaginable choice or immediate heart surgery like a high 75% of DG babies. He was a fighter and gave us the hope we so much needed. Given the syndrome is so variable the rest was a waiting game until the arrival of our angel, however GOSH’s genetics team was on hand to answer the questions they could. The days that followed after the news are a bit of a blur but I do remember waking up on day 4 feeling like everything was going to be ok.

Gabriel was born on 1st March and after a short stint in intensive care in UCLH was transferred to GOSH where the testing began. The first week of his life was
pretty traumatic for him and us but we were in the best hands of the amazing
team at Great Ormond Street Hospital. His heart continued to be scanned to make sure it was working as it should, procedures which I held my breath each time until it was over. Thankfully by some miracle the cardiac team was so happy that they don't need to see him until he's 2 years old. We have spent countless hours at GOSH seeing specialists who make you feel like you’re the only patient they have to see that day, giving you their time and expertise without
hesitation. Gabriel’s first procedure to cut his webbed vocal cords was fairly
minor, nevertheless leaving him asleep on the operating table for the first
time wasn’t easy. His second operation was to remove a blockage in his kidneys,
a 4hr operation with the wonderful Dr Mushtaq, who made us feel at ease and
reassured us our baby was safe in his hands… he was and his surgery was a
success. Gabriel is due to have an Orchiopexy with Dr Mustaq in July… in my
opinion he’ll be fine with one but Dan assures me that he won’t thank me when he’s older! :-)

Gabriel is now 15 months old and under the watchful eye of Urology, The 22q Clinic including Psychology & Immunology, Cleft Team, ENT, Speech Therapy and
Cardiology. A team of people that somehow makes us feel that we are
swaddled in a safety net and Gabriel will be ok no matter what. 

Gabriel has enriched our lives beyond comprehension, he is the most beautiful,
affectionate little baby, and we simply adore him. There is not a day that goes by that I am not eternally grateful for being blessed with his precious soul.

Please help us make a difference to existing and future families that have to walk
through the doors of Great Ormond Street Hospital.

A huge thanks for your support. 

Rachel, Dan, Reuben, Gabriel. xxx