A bump in the road: VCFS 22q11.2

A doctor, a principal, a policeman, it always makes you feel a bit nervous, churned and anxious inside when they ask for a word in their office. Last Friday afternoon at the hospital we found ourselves in this position.

You always know that if the conversation doesn’t with… “its ok, there’s nothing to worry about, everything is fine”…then there is something wrong, and there is something to worry about. Armed with their facts and data, two doctors very carefully and tactfully delivered Mr T and I some difficult news.

Little precious, strong amazing Lily has another curve ball to overcome. A routine screening test to check for genetic abnormalities that could be related to her cleft palate returned a positive result for velo cardio facial syndrome (VCFS). It is the second most common genetic issue after down-syndrome, occurring in every 1:2000-3000 births.

It is not something there is a cure for, and something that may present few or many challenges for Lily throughout life. The syndrome is known to have 180 different anomalies associated with it, that can be present in varying degrees from mild to severe. The most common and occurring anomalies are congenital heart disease, cleft palates, immunological deficiencies, feeding/gastrointestinal issues, kidney/renal problems and characteristic facial features. Learning difficulties and developmental and speech delays are observed in over 90% of children with the syndrome.

Sounds rosy doesn’t it? It certainly was not what we were expecting to hear. As you can imagine, it was quite upsetting, and with Mr T by my side we listened carefully together.

The picture you hold onto with your premmie baby, of one day taking home your healthy happy baby, becomes suddenly jeopardised and you think about possible future outcomes. Will Lily be happy? Will she have ongoing issues? Will she be ok?  

It was just beginning to feel like we had mastered the premmie baby stuff, and were making great progress, then boom…this one popped up and plummeted our confidence and hope all the way back to rock bottom, where we started this journey 13weeks ago. It feels like we now have twice as many unknowns as we began with.

As with all difficult news, it gets easier with time and as you wake each morning, each new day brings a more positive light to the new situation you find yourself in. Already over the weekend we have gained some perspective and can see things from a more positive frame of mind.

Positives so far… Lily has already overcome two bouts of sepsis when treated with antibiotics, her cardiographs have only ever shown her PDA(open duct) and no other heart abnormalities have been obviously visible, brain scans have all been normal, we already knew she had a cleft palate, she is feeding and growing well (2.8kg now) and we still think she is cute as a button!

Further positives, are regardless of her prematurity, she would always have had the syndrome even if delivered at full term. It develops in the very first stages of development when all the chromosomes are joining together to make baby, genes within chromosome 22q11 are either deleted or missing.

When we meet with a geneticist on Monday they will be able to tell us exactly how many and which genes are missing from chromosome 22q11, which may give us an indicator of what possible effects/symptoms we can expect to see in Lily. In more than 90% of cases it just happens, but Mr T and I have had blood tests to see if either of us may also have the incomplete chromosome.

There is no doubt that what we have experienced so far has been life changing in many ways, but I’m not sure quite what the impact has been yet, or what it will look like in the future. Importantly though, I remind myself how lucky we are to have this special little gift. So many other NICU parents lose their little ones before they are able to return home, or are asked to take them home and love them as there is nothing else that can be done for them. Or how lucky we are that we were even able to have a little bubba, when other couples cannot.

Lily is here, she’s growing big and moving forwards, all pointing towards a happy future at home…even it happens a little later than first anticipated.

She has been born into two beautiful families full of love, and with teachers for parents, her individual learning plan will be written before she even sets foot inside a kindy or school! In times of adversity relationships can become strained, but Mr T and I are rock solid. His care and love for me, keeps me going when I think I can’t and my positive prattle reminds him how lucky we really are! Our little lady, has brought us even closer together and united our amazing family unit before we are even all able to be together.

Really, when I think about it nothing has changed, her treatment remains the same, Lily is still the same, still building up her breathing and feeding.  

Our remarkable daughter has survived so much already; born very ill at 25 weeks and born with this rare syndrome, she clearly wanted to be here and has fought so hard to do so. She has a purpose she needs to fulfil and love to share with us all. I couldn’t be prouder.

With our new found bump in the road, we continue to move forwards as a family with love, determination and extreme gratefulness for lovely little Lily.