Miss Mercy is almost 7 months old! Can you believe it? Time has flown by, and I still look at her in awe of how fitting her name has been.
Mercy – throughout a difficult pregnancy
Mercy – throughout a rough beginning, full of surgeries and 6 weeks of NICU
Mercy – throughout learning to feed from a special bottle
and now Mercy – with a new diagnosis.
It began within a few days of her birth. At least for me. No one else seemed to notice. But mothers know. It was her eyes that caught my attention. As soon as she was able to open them, they looked different to me.
As she became more alert, I began to see things in her facial features that seemed so very different from my other children – a flatness at the bridge of her nose – cheeks that were bony in the places that I usually kiss – an exotic look with piercing blue eyes that seemed to see right through you, yet see nothing at all.
But, everyone kept telling me how every child looks different. The fact that I am a mother of 10 seemed lost on them. And so, I silently stared at my baby girl, wondering who she was.
I also chose to only share certain photos via social media and on the blog. Photos that made Mercy look completely “normal.” Photos where she is looking away. Photos where she is lying down. Photos where her eyes are focused – fleeting moments captured by my daughter’s skillful photography lens. And through tears, I told my 16 year old daughter I wanted her to take beautiful photos of Mercy so that my precious little girl never, ever looked back and thought she was ugly. (and even as I type those words now, I cry.)
Sitting in her hospital room, I did what every concerned mother in that hospital does…I googled. I started with Pierre Robin Sequence – the diagnosis we knew she had. I noticed there was a connection with a syndrome called Stickler Syndrome. However, the photos online did not look like my Mercy. They were of children and adults with very flat faces, very turned in eyes, and there was talk of short stature and hypermobility and heart conditions and hearing loss – things we did not see in our daughter. But try as I might, I could not shake the feeling that what I was seeing in Mercy resembled something Stickler-like. And so, the day before we were dismissed from NICU, I asked if the genetic testing had come back for her – something I assumed had been done – but it had not. The attending physician, realizing it had been overlooked, ordered the test, and I felt like finally I would have the answers I was looking for. A yes or a no – and I could move forward.
At her check up several weeks later, I learned her genetic test was “clear.” I breathed a short-lived sigh of relief before realizing (thanks to my interest in science as a teenager) that they might not have done the test I needed to be certain she did not have Stickler Syndrome. Sure enough, she had had a microarray done. That tests for additions and deletions. Stickler is a “spelling error” in the gene. A microarray does not look that closely. And so, there I was again…wondering.
The day before Mercy’s distraction surgery (where the hardware that pushed her jaw forward so she could breathe was removed), we went to the Genetics clinic. If you read that post, you will hear the words of a mom who felt relieved because clinically, the doctors didn’t see much that resembled Stickler Syndrome. What you do not read is that the next day at her vision appointment, my whole world fell apart.
The ophthalmologist said that based on her eyesight being severely myopic (near-sighted – as in -14.5 near-sighted, for those of you who know what those numbers mean), she more than likely DID have Sticklers.
For 48 hours I had allowed myself to believe Mercy just looked a little different from her siblings. I had allowed myself to believe what I saw in her eyes was just a NICU baby learning to adjust. I had allowed myself to believe that once her palate repair was complete at the one year mark, that would be the end of Mercy’s medical care.
I left that appointment bawling.
And I felt stupid and petty for bawling.
Some day I may feel like allowing myself to be uber vulnerable and share exactly what went through my head following that appointment, but I’m not there yet.
I came home from that 3 month appointment and spent a couple of months sitting smack dab in the middle of a river called Denial. I tried to convince myself the eye doctor was a quack and there was no way I was going to take Mercy back to her 6 month appointment. I told myself over and over again that Mercy was fine – all she needed was time.
But, then at 5 months, I turned a corner. I had done my grieving. It was time to get to work. I posted this photo of Mercy on my Facebook page and began my series on being a NICU mom and realized I KNEW who this little girl was, and no syndrome was going to change that.
At 6 months, we took her back to the ophthalmologist and she saw a retinal specialist at the same time, because even without a definite diagnosis of Stickler Syndrome which affects the collagen in your body which affects your retinas, having that level of myopia puts anyone at risk for retinal detachments. The specialist said she would need to be examined under anesthesia and her retinas potentially lasered where there were weaknesses. (This will happen very soon.) The ophthalmologist confirmed that her prescription had not changed, and we went from there to the pediatric optical shop and picked out her first pair of glasses.
The day before her glasses arrived, the geneticist called and confirmed she does indeed have Stickler Syndrome – Type 1 – a mutation of the COL2A1 gene – the most common form of Sticklers.
And I didn’t even flinch.
There is obviously much more to this story. There is the question of where did this genetic syndrome come from. There is the question of what will her future look like and how will it manifest itself since Sticklers varies greatly from patient to patient. There is the struggle of keeping glasses on a 7 month old who has a syndrome that makes her nose just a tiny button of a thing. There is a lifetime of preventative care and maintenance of her symptoms.
But, there is Mercy.
And that is all that matters.
If you would like to read more about Mercy’s story and her journey with Pierre Robin Sequence and Stickler Syndrome, take a look at this page and bookmark it for future updates!