A New Diagnosis

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.

How we got here…

28th of July 2017

Our boy Brooklyn was born at 315am. He did not cry and was as calm as could be; so much so that Amie and I had some initial worries but were assured that sometimes babies are just tired.

He struggled to feed, to begin with, which forced us to employ a range of tricks to ensure that not only did he stay awake but that he actually got something to eat. There were a few worried whispers amongst the medical staff but the majority kept stating that sometimes babies are just tired.

30th of July 2017

We went home and for 2 days enjoyed our perfectly normal baby boy.

1st of August 2017

This was a 27 hour day for Amie, Brooklyn and I.

At 2am we noticed a few things that had us worried once again. We were beginning to think that our boy was not just tired but that there may be something else wrong.

We arrive at our local hospital’s emergency room and were immediately admitted to the children’s emergency area where a range of doctors did a few initial tests. These tests were inconclusive but what they saw gave them pause and forced a quick trip to the pediatrics ward for some observations to determine whether or not our thinking was wrong, maybe our boy was just tired.

Brooklyn had the first seizure that myself and Amie saw. We pressed the big red button and immediately knew that our boy was not “just tired”, our boy was quite ill but no one knew what was wrong.

Instantly there were 5 doctors in the room, with concerned looks on their faces and a slew of tests on their mind. Amie and I went for a walk around the hospital and began telling those closest to us that we think there is something very wrong with our newborn son.

After a range of initial tests, we were told that we would need to take Brooklyn to Sydney Children’s Hospital to visit their Neurological department. The NETS team came and loaded Brooklyn into an ambulance built for newborns with severe health complications. We were driven to the hospital by our closest friend and then spent 3 hours in the emergency room while 3 departments within the hospital decided who would initially look after Brooklyn.

At 3am the ICU decided that because they still didn’t know what was causing Brooklyn’s seizure that they would admit him. We went to bed that night away from our newborn son.

2nd to the 7th of August 2017

These next few days went by in a blur. We were asked countless times to talk through Amie’s pregnancy; were there any complications, any issues during the birth, did you notice anything strange etc. Numerous times the growing teams of doctors that were looking after Brooklyn stated that there are 7-8 things that cause seizures and once we rule them out we then enter the world of rare diseases and conditions.

Our lowest moment during these days came when the head of neurology came to us and said the words “I don’t know what’s causing Brooklyn’s seizures but I am not happy about it because it will mean some severe developmental complications for him in the future”.

Nothing ever prepares you for a doctor to tell you this about your newborn. We cried, we prayed for our son and decided that we would do whatever we needed to do to look after our family.

We didn’t know that it could get worse.

8th of August 2017

The day started normally for us three. I came into the ward where Amie and Brooklyn were staying and we began going about our day. We waiting for the doctors to do their rounds, we had breakfast and coffee together and started making some decisions about what our life will look if we ever get to go home with our boy Brooklyn.

After a brief chat with the social worker at Sydney Children’s Hospital, we sat down waiting for another conversation to happen with the neurological team when the social worker came back and asked if we could come with her to one of the meeting rooms.

We sat down in one of the offices and immediately realized that the next conversation was going to be traumatizing as 9 different doctors made their way into this tiny room with us. The head of Genetics and Metabolics began speaking and informed us that Brooklyn has an extremely rare metabolic condition called NonKetotic Hyperglycinemia. You can read up on what exactly is NKH but simply it is a deformity in Brooklyn’s DNA that causes a large build up of Glycine in Brooklyn’s brain which effectively is slowly poisoning his brain and will ultimately cause him to pass away.

We were told weeks to months was the timeline and that if Brookly made it out of this initial stage that because of the way NKH attacks the brain Brooklyn will be profoundly disabled and that there will never be a guarantee that he will be alive past 2 years old.

Then until now

We cried and have continued to cry over our gorgeous boy. We moved from Sydney Children’s hospital to our local hospital to home. We planned our son’s funeral expecting weeks and months. We enjoy every single moment with our boy because we were told that he wouldn’t be here this long. We love our son so much and regardless of what tomorrow brings will continue to live our lives with Brooklyn.