Discovering Rare

I remember the fuzzy days when I didn’t quite know what was going on around me, why my son wasn’t ‘clapping’ his hands or doing things that I didn’t even realize mattered so much so until doctors asked me.  I was maybe a bit naïve to everything at first, I was just SO happy to be a new mom.  The diagnosis stuff didn’t really sink in immediately, I just loved him so much and that love masked a lot of emotions in the beginning. I flash back to the moments of people around us saying ‘Oh he’ll be crawling and getting into things soon!’ Then as months would go by and these milestones were still nowhere near, the emotions I had hidden would surface.  I would have dreams, visions of him sitting and crawling and bursts of joy would fill my new mom void. Then I’d wake up with feelings of huge loss and disappointment, reality would sink in and the next time someone would say ‘Oh he’ll be…he’ll get there…’ it would happen all over again.

While pregnant with Vincent I felt really great. I passed the 12 week nuchal screening test, I did a ton of yoga and worked my full time job right up until a few days before I was induced.  But, I remember doctors watching his head size closely on ultrasounds and they continuously followed up on it. I was sent to the Royal Alex hospital a few times for more detailed ultrasounds, and my doctor decided it would be best to make sure I didn’t go overdue. My husband was an 11.2lb baby so I was mentally prepared to have a decent sized baby either way. I was sent home with a gentle induction and Vincent was born the day before his due date. Vincent’s delivery went ok – I mean, I didn’t know what to compare it to at the time, but now that I have had a second baby who came into the world very easily and naturally I know that his delivery was not so good at all. His apgar scores were very low and to this day I’ve never really shared photos of Vincent at birth because he was so bruised and scarred from the forceps. He didn’t come out crying, we were rushed off to the NICU where we stayed for a week. As weeks passed, I started to notice the shape of Vincent’s head. It was very oblong, he would always lay facing to one side and didn’t begin to hold it up like a typical baby would. Which leads me to his first diagnosis:

Sagittal Craniosynostosis – the skull bones prematurely fused together (most often this happens in utero and isn’t detected until the child is born and the soft spots cannot be found).

There are 7 skull plates and Vincent had the most common form (Sagittal) where the top 2 plates were fused together and as his brain was continuing to grow his head could only grow in 2 directions. Treating craniosynostosis involves surgery to correct the shape of the head and allow for normal brain growth. Early diagnosis and treatment allow baby’s brain adequate space to grow and develop.  We were told most children have normal cognitive development and achieve good cosmetic results after surgery.  Vincent had surgery at the Stollery Children’s Hospital at 16 weeks old, he has a scar from ear to ear but the surgery was successful and he recovered remarkably well.

Following surgery there was helmet therapy and concerns of why development was slow. We started to notice Vincent would have little eye flickers, split second eye rolls where he’d drop a toy or zone out then come right back. He was diagnosed with Infantile Spasms, a rare and catastrophic form of epilepsy at 7 months old. While admitted to the hospital this round the doctors mentioned (so casually) that he was a hypotonic baby and would send blood work away for genetic testing. I also noticed ‘macrocephaly’ written on his discharge papers, so I went home to google that too.  You can imagine where our heads were at as new parents.  Everything was put on hold while I went down a rabbit hole of research. We needed a completely new handbook on parenting.  Within a few weeks Vincent received his Rare Genetic Diagnosis, 3q13.2q13.31 that he is missing part of his 3rd chromosome which would explain his various delays, seizures and unknown future. The unknowns! This was the hardest part…nothing was textbook, black and white, no real answers to go home with. It was the most uncomfortable feeling I have ever felt…to not know what the future holds for my new baby.

I recall an early intervention woman coming to our home to assess and talk about services shortly after all this.  All I could ask was, is there anyone in the community I can connect with who has a similar diagnosis to my son? (really just a new mom here, crying out for support)  Her response: ‘No I’m not really sure there’s any others like your son in the area.’ (Insert gut punch) What do you mean? I don’t know if I was more upset that she reaffirmed there was no one I could connect with, or pointed out how truly rare my son was. Was he really so different that I couldn’t find one person to connect with?  At the time of diagnosis we were told the genetic testing for Vincent’s type of disorder had only been discovered about 6-7 years prior.  I felt alone in the world of parenting, I didn’t know one child like mine, conversations with other new moms felt awkward and uncomfortable because I could no longer relate to the ‘new mom club’.

I was still full of questions ‘What does hypotonia mean, will he walk one day?’ (fully feeling confident that he’d obviously walk one day, I’d teach him! We were just in a bit of a storm, things would surely turn around)

This phase of discovering, understanding and accepting did not happen overnight. I would fall down rabbit holes of research trying to find answers as to when my son would crawl. ‘Surely by the time he was 2 it will happen’, I’d think to myself. Others would say ‘its ok if it happens late’, but in the back of my mind I started to think, what if it doesn’t happen at all? Then what!? I will still love the shit out of him but will everyone else? Will he still be loved as much as all the other kids in our family? Will he still get to partake in fun events and get to go to birthday parties? The millions of questions that would naturally surface defeated me some days.

But growth and acceptance came, I worked through a period of grief and let the scare factor and unknowns of our future come and go. I needed to keep digging, my research skills became well-honed and social media started to play a big role in supporting me. I found Facebook groups for parents of children with Vincent’s EXACT chromosomal microdeletion approx. 128 members to date. Plus another one that was a little broader (3q/3p deletions and duplications) with over 500 members and the more I started to understand these numbers and the technicality behind the deletion, I realized there were hundreds of groups for all the different variants that can happen in a genetic make up.  So while each child is completely rare and with a very unique deletion, there actually were thousands of children worldwide quite similar to Vincent. I started to meet some moms via Facebook and Instagram, then I connected with some local to my community. The process of learning about other children was a lot, I started to realize I couldn’t find all the answers I was looking for, but I could begin my journey to fully accepting being a special needs parent and join the community to build my support system. I was not alone at all.  I recognized that Vincent would be the one to tell us what he can do and we would just help make sure he has all the tools to get him where he’s meant to be, and maximize his potential.

Some of these moms I’ve met have needed me just as much as I’ve needed them. Some of us started to build bonds that feel like family, we fed off each other for new discovered therapies and would begin to cross paths at appointments. When appointments were long and hard, I could at least say we saw friends and were reminded we weren’t the only ones with long challenging weeks.

We always felt supported by our family and friends as well.  Any time we have needed something for Vincent we have always had a really amazing village to count on, it has kept us afloat when we’ve been so afraid of drowning.  The strength that some say I carry hasn’t been just given to me, it really has been built up over the years from those around me. Trust me, it waivers at times, but I consider myself very lucky.

If I can offer any tid-bit of advice to those new on this journey I would just encourage every parent to find their support network. If you have received troubling news regarding your child’s development or if you are just craving connection, there are countless other families going through a similar experience and there is so much value in knowing you are not alone, to hear ‘me too’ from someone on a similar path can make the world of difference. Reach out to online groups and ask questions to those who have been through it already.

For anyone wanting to understand Rare Chromosomal Syndromes in further detail there is a great website that I will link here which has guides on all the various deletions and duplications that have been detected in the recent years. https://www.rarechromo.org/disorder-guides/

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