I’ve written and rewritten this for what feels like a million times. How do you really convey all that goes through your head and heart when something like this happens?
We’ve been on this journey for as long as Emmett has been alive. First, his stay in the NICU as they ran test after test trying to figure out what was wrong with him because things weren’t quite right. They found nothing conclusive so we assumed they were simply overreacting. Then his failure to meet the baby milestones. It was late September after a 24-hour EEG (the first of several he’d have in the next few weeks) when he was diagnosed with infantile spasms, and what turned into a six-week stay at UCLA Mattel Children’s Hospital where we found out they suspected Ohtahara’s Syndrome, a rare and devastating epileptic encephalopathy disorder. It was during this stay that we found out he was silently aspirating on his milk and needed to get a g-tube, which is basically a tube that comes out of his stomach that you use to feed him directly.
By the time we got his whole exome sequencing results late January, we were almost relieved to have some sort of definitive answer to his struggles. To get a sense of what we can expect, because the labels infantile spasms and Ohtahara’s did but didn’t quite fit him. His genetic results explained why … he has a rare genetic mutation in his PIGA gene, a mutation that has only been seen in less than 20 other babies (ever). There is no known treatment. Many don’t live beyond the first weeks or months of their lives. Others manage to live with limited capabilities. There is only one other case of his particular variant and that baby – when the case study was published – was 15 months old. We’re trying to find out how he’s doing now.
When your baby is as medically complex as Emmett is, your lives get turned upside down. You rearrange your lives so that you can stay at the hospital 24 hours a day when he gets admitted unexpectedly. You get to know the nurses and doctors, and their routines. You cancel vacations and trips, and find out how serious your employer is when they say they value “work/life balance.” Thankfully between me not working and Steve’s company and coworkers, we’ve been able to work it out.
And then there’s the emotional turmoil you go through. From dealing with the heartache that your child will never be “normal,” to realizing that he will likely never even walk or talk, to being told that he may have a very short life expectancy…. Each stage brings with it different worries, different questions, a different sadness.
But there is also the immense joy that comes with the small moments. We were over the moon when he started smiling at seven months. We are beyond ecstatic when he is in a good mood and smiles in reaction to things we do. His neck seems to be getting a little stronger and we’re waiting for the day he can hold his head up by himself.
Till then, I’m taking it day by day and hoping this blog helps to keep anyone interested up to date and documents his unique life. We’re also learning and exploring different things to keep him engaged and comfortable so will share those as well in different posts. Finally (cause this is getting long) I wanted to say thank you to those who have helped us over the past few months… those who have expressed their concern and support, those who brought us food in the hospital when we were super stressed and busy, those who have helped share information and done research for us (when we were just trying to relearn what DNA is), the list goes on and on. I’ve been touched by how much people care, so thank you.