Which Hell would Sir like today?

25 Nov 2009 • Family

Last Thursday I fired off a Tweet that pretty much summed up what was, in the end, a bad day.

Every now and then life throws you a curve-ball. No matter how hard you look you never really see it coming.

As already announced, Katie is currently pregnant with our second baby, affectionately named “Doughnut”. Last Thursday was our 20 week ultrasound scan. If you know about these things you’ll know that the 20 week scan is more formally the “fetal anomaly” scan. A check-up to ensure that all of babies essentials parts (limbs, organs, bones etc.) are present and correct. It’s a beautiful thing. Seeing your unborn child moving, and seeing each part of her growing perfectly into the tiny person she is to become.However, there’s a reason they go looking for anomalies. Sometimes things aren’t as perfect as you might hope. As the sonographer spent more and more time looking at Doughnut’s heart it became painfully apparent that something wasn’t right.

If you know about hearts (and we’re learning rapidly) it’ll be obvious that a heart can be simplified into a number of parts. There’s two atria (collecting chambers) where blood comes into the heart and two ventricles (pumping chambers) from where blood is pumped out of the heart. Then there’s the main pulmonary artery that carries blood to the lungs and the aorta that carries blood to the vital organs. The left and right sides (an atrium and a ventricle on each side) should be separated by a wall.

The sonographer couldn’t locate baby’s pulmonary artery, and found evidence of a hole in the wall between the two ventricles. This is known as a ventrical septal defect (VSD), essentially a hole in the heart.

At that stage it was all maybe’s, possibly’s and probably’s. After the longest weekend I can remember we met with the Fetal Medicine department on Monday and now have a clearer idea of the problems.

Our Doughnut has a problem they call Pulmonary Atresia with MAPCA’s. A whole bunch of words that I’d never heard, and probably never wanted to hear. But, here we are.

Pulmonary means “of the lungs” and Atresia means “an absence of”. Together they are used to describe problems with the pulmonary artery that can be anything from a narrowing and blockage of the main pulmonary artery, through to pretty much no pulmonary artery at all. MAPCA’s stands for major aorto-pulmonary collateral arteries.

The normal pulmonary artery arises from the heart and the splits towards each lung in something like a “T” shape. It’s three parts are the main pulmonary artery, the left pulmonary artery and the right pulmonary artery. If the main pulmonary artery is absent the left and right can form in a range of ways. On one end of scale the left and right pulmonary arteries are intact and feed both lungs taking a supply from the aorta instead of the absent main pulmonary artery. On the other end the lungs are fed from a number of smaller arteries that are connected to the aorta. These are the MAPCA’s.

What we know is that Doughnut has no significant main pulmonary artery, she has a hole (VSD) in the wall between the two ventricles where the main pulmonary artery should rise, and she has MAPCA’s. What we don’t know is the quality of those MAPCA’s. Sometimes they’re bigger and stronger, sometimes they’re smaller and weaker. Obviously, the stronger the better. Due to the limits of ultrasound it’s not possible to say for sure how good the MAPCA’s are. For a true picture we’d need to see an angiogram which can’t be done until baby’s born.

In most cases this kind of defect is operable but it’s not guaranteed to be successful. A number of surgeries would be required, potentially over several years. To try and improve the situation a surgeon would attempt a process called “unifocalisation” where a number of MAPCA’s are brought together to form one artery. If this is successful the ultimate aim might be to insert an artificial artery where the main pulmonary artery should be and then seal up the hole. This process may or may not be successful and may take many, many years. Ultimately it would be palliative rather than corrective surgery.

It seems that bad news rarely comes unaccompanied. A heart defect such as this is often caused by a chromosome problem. In this case a problem called 22q11 micro-deletion, or “DiGeorges Syndrome“. This refers to parts of chromosome 22 being missing, specifically that part at a location designated q11. 22q11 Chromosome problems can be inherited but it’s unlikely as neither Kate or I display any symptoms. Often it is simply a random anomaly. The chromosome problem can lead to a range of problems including specific facial features, immune system weakness and learning difficulties in later life.

The chances that our baby has 22q11 micro-deletion are about 20-25%. An amniocentesis test can provide us with more certainty on this but it involves placing a needle into the amniotic fluid and can bring on a miscarriage in between 0.5 and 1% of cases.

We now have decisions to make that are, quite frankly, terrifying.