Microcephalic Osteodysplastic Primordial Dwarfism Type 1

It has been an emotional few weeks and it’s been difficult to write against a backdrop of mixed emotions as we have been given more clarity on what Aiya’s future may look like, good and bad.

Aiya’s condition is Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD Type 1) and there have only ever been 30 reported cases in medical records. On the current Microcephalic Primordial Dwarfism register there are 100 cases of the wider condition worldwide of which only 6 cases are MOPD Type 1 (45 are MOPD Type 2, 49 are other variations of primordial dwarfism or have an undiagnosed form).

Almost 10 years ago an amazing couple called Sue and John Connerty set up a foundation called Walking With Giants (http://www.walkingwithgiants.org/en/) after their son was diagnosed with a form of MOPD. Walking With Giants hosts an annual conference bringing together children with Primordial Dwarfism and their families from around the world. This year there were 41 families in attendance and we attended for the first time 2 weeks ago.  It was amazing and inspiring to meet all the primordial dwarfism children and their parents. It filled me with joy to see some of these children running around and gives me hope that one day Aiya may walk and talk, but equally it was heart breaking too hearing people’s stories of loss and understanding more about Aiya’s condition. We were very fortunate to meet the 2 world specialists on MOPD and they were able to give us an insight into what they know about MOPD Type1.

There is little known about MOPD Type 1 given its rarity and the few reported cases. What we do know is that most of the children with MOPD Type 1 have life spans of 1- 2 years, with poor immune systems, which means they eventually succumb to serious bacterial infections such as pneumonia or sepsis. In true Aiya spirit she is beating these odds and fighting any infections that come her way.  We met Aiya’s immunologist last week with the results of Aiya’s first immunology blood report and her immunology is currently looking healthy. It’s on the weak side of normal, but we’ll take that. My beautiful girl amazes me every day and when I feel like the world is getting dark, I’m shown a miracle to tell me nothing is black and white and to have faith as no one has all the answers. I’m not naive enough to think we don’t have to be careful with  Aiya getting infections but  there are some truths that I’m not ready to face into right now, although I know one day I will have to.