Life

Sophie Update: The 6 Month Holoprosencephaly Milestone

Well guys, we did it. We’ve officially made it to the 1% club!

That’s right. Sophie is now SIX MONTHS OLD, and joins the 1% of children diagnosed with holoprosencephaly to reach this milestone.

Just 1%.

Not as though we ever had any doubts in our little fighter, but regardless, the arrival of Sophie’s half birthday was pretty bittersweet.

At the same time, another 3 families in our online HPE community lost their babies this week. It’s a constant reminder that things can change in an instant and to never take each day for granted.

These past 6 months drudged on so slowly, yet went by in the blink of an eye all at the same time, if that’s possible to imagine!

Since Sophie was born, our days have been filled with sadness and worry and anxiety, but also so much joy and hope! We cry when Sophie’s tummy is giving her pain, and we celebrate when she rolls over for the very first time.

Holoprosencephaly has touched our lives in a very difficult, crazy, beautiful way. I never imagined we’d be looking at our lives like we are, re-evaluating what is important to us, as if to start all over again.

As for Sophie, she’s doing pretty amazing!

For a little girl whose brain is “incompatible with life”, you would never know there was anything wrong by looking at her. She’s smiling and giggling and chatting all the time. She can definitely be moody, showing preference for Mom and Dad, but that’s also to be expected when she spends every waking minute with the two of us. Big sis Evelyn is a fun distraction and Sophie’s starting to catch on to just how crazy she really is!

Developmentally, Sophie’s a little behind other kids her age. We’re working on sitting (we can almost tripod sit unassisted), as well as rolling over and grabbing at toys. Now that she’s 6 months old, we’ll really start getting into weekly therapy to help her meet her goals. Some things we can work on, but others we may have to wait until they “click” for her.

We got some very encouraging news after having a second review of Sophie’s MRI done by a hospital doing research on holoprosencephaly. We found out that Sophie actually has a milder form of HPE than what she was originally diagnosed with. Called the Middle Interhemispheric Variant (aka Syntelecephaly), it is the mildest form of HPE and often comes with less health complications.

This made sense given the fact that she hasn’t had any of the usual troubles most HPE kids face. It was also great news in terms of what Sophie’s future abilities might be. Still, we’re left with a lot of the same unanswered questions since it is a fairly rare sub-type of HPE (and was only first defined in 1993!). There just aren’t that many kiddos out there to compare her to.

So, we “wait and see”. Wait to see if when Sophie will walk, wait to see how much she will talk… I’ve kind of stopped trying to predict the future, like if Sophie will be able to be in a regular classroom, if she’ll need a wheelchair, if she’ll start having seizures, or what her life expectancy will be.

Don’t get me wrong, it drives me nuts not knowing what the future holds. But those kinds of thoughts can really bog you down.

In the beginning, all of the possibilities made me constantly stressed and anxious. We’ve come now to accept that Sophie’s life will just look a little different than her sister’s and no amount of worrying will change that. Each day has enough of it’s own challenges, so there’s really no point in trying to predict what will happen 5 years from now.

Instead, we’ve learned to embrace the differences and appreciate the experience. It has opened our eyes to a whole new world of “special needs” parents doing the same thing every day. If we need to take a day to cry and just feel a little sad about everything before picking ourselves back up again, well, then that’s alright too. We certainly are not alone.

So for now, we’re focusing on creating the best life possible for our girls, in whatever way that looks like. I’m pretty sure that’s all any parent wants for their kids anyway, right?

Happy 6 months, Sophie! You are our little blessing!

Read Next: 6 Lessons Learned from Our First Trip with a Baby + Toddler