Jaide (Lucy’s mum): Lucy has not been formally diagnosed, however we believe she has a condition called megalencephaly-capillary malformation (MCAP). Articles I have read suggest there are around 200 cases reported for MCAP worldwide, however there could be more cases not recorded or not formally diagnosed.
All seemed to be going well with my pregnancy. All the tests and scans had come back fine until our 20 week scan, which showed that our baby had fluid in the chest cavity. This fluid meant that the baby’s left lung was not growing and the fluid was pushing its heart to the side. Again testing came back fine, including an amniocentesis. I had a number of needles inserted into the baby’s chest cavity to drain the fluid. Because the fluid in our baby's lungs kept returning, we were then sent to the Mater Mothers' Maternal Fetal Medicine Unit to see the Director Dr Glenn Gardener. (Dr Glenn is amazing!) I highly recommend him for anyone who is experiencing serious concerns with their pregnancy. Dr Glenn diagnosed our baby with having a ‘pleural effusion’ and inserted a shunt into our baby's lungs (through my stomach using what looked and felt like a metal BBQ skewer!).
After Lucy's birth (by cesarean) Lucy was taken to the ICU for observation on her breathing. During our five days at the Mater Lucy also developed jaundice, suspected hip dysplasia, and on the last day had an episode of what I believe is called harlequin effect, where half of her face turned purple! We stayed an extra day in hospital and took our little lady home.
At our six-week pediatrician appointment with Dr David Pincus (who is also fantastic!) we were given a referral to an Orthopaedic Surgeon about Lucy's hip dysplasia. Lucy was fitted with 'straps' that she would stay in for around three months - these were terrible - we had trouble washing her and I felt so self-conscious that people were looking at her!
I wish this was the end to our little girl’s story. However, after Lucy's straps came off I noticed that one of her legs was growing bigger than the other. I raised this with our GP who told me to stop worrying and that I had a perfect baby. I was worried so saw a different GP who referred me back to Dr David Pincus.
Dr Pincus agreed that Lucy's legs were not the same length and she had a few other characteristics (blotchy skin, webbed toe, small birthmark above lip and larger head size, and larger arm) that highlighted there may have been an issue - we were then referred to a geneticist. This was in the public system so took around three months! Lots of time to worry and Dr Google search!
It felt almost like our trip to the geneticist was a waste of time - nothing was diagnosed as conclusive - now I assume this is because Lucy's condition is so rare.
Since then we have seen Dr Pincus a number of times and things have calmed down.
Because it is a rare disease we didn’t know what to expect. At first we worried she would have cognitive issues, but that isn’t the case.
As with all conditions there is a scale. We are very lucky that Lucy is only mildly affected by her condition and she is otherwise a happy and healthy little girl.
As part of Lucy's condition she has blood and ultrasounds every three months to check for Wilms tumors. She will have these till she is around 8 years old.
At around 12 years of age Lucy will have a small operation to fix her leg length discrepancy. This involves doctors stopping the growth of her longer leg, so that her short leg can catch up.
One of the hardest things about having a rare condition, or not having a diagnosis at all, is not knowing what will happen. There is limited research done - it is the unknown. Because also there is such a spectrum on conditions, when you do research you always think the worst.
The best advice we received was not to Google search, especially before you have a diagnosis. I wish I listened!! At least at the start when your world is crashing down.
Lucy is now a cheeky three year old. She has heaps of friends at childcare and is indisputably the best thing in life for my husband and me.
I coped by lots of crying – it's good to get the emotions out. After that, lots of research and support from our Paediatrician. We just get on with things and hope that we can give Lucy the strategies she may need to be a strong person in the future.