Over a month ago we were given a new diagnosis for Brooklyn, Early Infantile Epileptic Encephalopathy or EIEE (or Otahara Syndrome if you’d like more words to google). His diagnosis was confirmed when a full check on Brooklyn’s genes was performed and it was found that the gene KCNQ2 had mutated which gives the Metabolics/Genetics team a firm understanding of what has happened. Sadly, Brooklyn’s Glycine levels are still quite high which means that Brooklyn has two forms of encephalopathy, Glycine, and Epileptic, and according to our neurologist make Brooklyn a one of one; so rare in fact that they would like to write a paper on his particular condition to help other doctors in the future. At the moment he’s had another lumbar puncture and we are waiting on the results but from what the neurologists have told us it may mean something or it may mean that we are still in this no man’s land.
A shift in diagnosis also means a shift in both perspective and expectations. Initially, we were given a prognosis of “weeks to months” and now it looks like a yearly outlook is more appropriate but with this new outlook comes a clearer picture of Brooklyn’s development and what his life will look like. Once we expected that at any moment the Glycine will be too much of a poison in his brain and he will just pass away but now we need to reconcile ourselves to the fact that our son may only get to his fifth birthday but will be profoundly disabled.
When I found out we were having a baby I began to dream what it will be like to watch my son take his first steps, head off on his first day of school, ask for his first real piece of advice and ultimately just see him grow into a man. You would think that the second we were given his initial prognosis these dreams would have disappeared but rather they’ve slowly evaporated with his new outlook.
This is truly saddening.
It really began to sink in when Brooklyn came out from his Gastrostomy on Monday that our 10-month-old son has just been supplied with a tube from his stomach to the outside world because at the moment no one thinks that he’ll ever be able to eat food regularly. Developmentally this is a milestone that he will probably never reach and this is what we need to do to ensure that he is fed.
I’m trying my best to shift my perspective and expectations but as you can imagine it’s quite hard. Amie explained it once that parents of a developmentally delayed child celebrate inchstones as opposed to milestones and I truly thank God each moment Brooklyn passes an inchstone. The neurologists once told us that Brooklyn may never get to a point where interaction with others is something to be expected and then one day he began noticing us and certain colours around him; this was up there as one of the best moments of my life.
This is the new normal. This is the new perspective that I need to adopt.
My son will more than likely never walk and will be profoundly disabled for his entire life, he will be wheelchair bound and in the neurologist’s words “will need the most amount of care that can be given for his entire life”. This saddens me to my core but each time I think about it I try to then think what is the new “inchstone” we can be working towards. At times it feels like I’m trying to force a mindset on myself but realistically it’s either that or curling up in a ball and crying all day. There is still no assurance that Brooklyn will be around long term as his condition means that he is quite fragile and the doctors are still very frank when it comes to long term outlook. I love my son so much and although the outlook is challenging our God is good and we are thankful every day for the gift of our son even though he is not what we expected.
Perspective and expectations change.
To be honest I just feel a general sadness about our situation and our boy but thankfully this has subsided over time. God has been so good to us and we see Him daily through others and the way they pray for us, in the strength that he’s given us and finally in our son. I love you my boy Brooklyn.