Wednesday, September 30, 2015

Our First OI Clinic Appointment

Oh hey, there's a ton of information in this post.  Although I do talk a lot, my posts are usually less wordy, so excuse this one :-P

We're at AI DuPont Hospital for Children pretty frequently, but as Isaiah gets older, the amount of time we're there continues to get less and less.  Pam treatments were supposed to be every 8 weeks until he turned two, now we're stretching them out to every 9-10 weeks and by the time Isaiah is three, I believe it'll be every 12 weeks (woo hoo! No offense Dupont family, we love you!)

Something else has changed since Isaiah is two, he's now ready to go to OI Clinic.  OI Clinic involves seeing his geneticist, orthopedic surgeon, and a physical therapist with OI experience, all at once!

Since we live a few hours away from the hospital, the doctors and schedulers did me a huge favor and squeezed us into the schedule when we were there for his latest Pam treatment.  It made for an exhausting day (especially because we also did a sleep study the night before, yup.), but was worth it.

We were grateful to have clinic the same day as pam for more reasons than just convenience.  The PT we'd be meeting with had a chance to stop in while Isaiah was relaxed and getting treatment.  When she arrived, he was rolling around playing on his bed in Day Medicine so she was able to see him comfortable...(he wouldn't be comfy later at the clinic appointment, because it all looks like a doctor's office, and spoiler alert, he actually fell asleep while we were in clinic, which really would have wrecked her chances of seeing him moving).  Her meeting us in Day Medicine gave us the chance to really talk about Isaiah from a PT perspective, what we're doing with him and what she'd like to see him do.

After Pam was done that day, we headed right to the sign in area for clinic.  From there, we made our way to X-Ray, where Isaiah had his spine and legs x-rayed.  They also included his right arm to check for the fracture we suspected (this was mid-September).

Once we were finished with X-Ray, we were brought to a room to wait for everyone to arrive.  They had been meeting with other families and then checking out Isaiah's X-rays together.  We were expecting to talk about rods with the doctors, so we knew that was a big conversation they were having over the xrays.

What are rods?
Rods are something many with OI get placed in their limbs if they are fracturing a lot (they basically act as internal splints) and to help straighten the bowing in the limbs if that's there.  There are different types of rods.  Isaiah's orthopedic surgeon works with what we hope he can get- FD Rods aka Fassier Duval Telescopong Rods.  Telescoping means they grow with the person, which means less replacing, less surgeries, as compared to other types of rods.  The rods are surgically placed inside the bones....and honestly, I don't want to go too much more beyond that right now, because it scares me.

Rods mean a lot to us.  I believe Isaiah feels unstable.  I believe he feels the fragility of his bones and that's why he isn't more active.  I am hopeful that rods inside of his bones will give him the courage to move.  But....according to Isaiah's ortho, it's not quite time yet.  He'd like to see more to Isaiah's bones.  He doesn't feel his bones are right for FD rods yet, but believes they will with a bit more time.  In the meantime, we're listening to the PT we met with who offered us a laundry list of things to work on with Isaiah and his therapy team at home.  She wants him bearing weight on his limbs and although it makes us extremely nervous, we're working on it.  More details on that in the future. ;-)

Isaiah's geneticist is thrilled with the progress of Isaiah's skeleton.  Isaiah's bones look brighter/whiter than they've ever looked before.  He has no scoliosis and that makes my heart sing.  Remember how he had a moderate kyphosis and we were put on limitations on what to do with Isaiah?  Well guess what?  That's practically gone!  He has one vertebrae affected by the kyphosis, as compared to the four that were affected last year, so that's fantastic news.  That means the pamidronate is doing it's job and Isaiah's bones are getting stronger.  OI type III is deforming; there's no way around that.  It will be a constant battle to keep his spine as straight as possible.  His spine is very important, because if it curves too much, it can very much affect everything in his torso.  His lungs are already restricted by the space available, curving of the spine would restrict that space more.

Speaking of his lungs....we've also recently found out the results of Isaiah's latest torture sleep study!  Details on that later.

Gosh, if you actually read all of this, you deserve a cookie.  :-P

Monday, September 28, 2015

Nemours Perinatal Program

Hi there, lots has changed since the last time I posted to the blog.  September was a busy month!

For those that are new, welcome!  I started this blog when we were pregnant with Isaiah as a way to share what was going on once we found out that things weren't typical.  We have a big family, and it was hard for us to call each person to tell them, going through the emotions each time.  Once Isaiah was born, the blog blossomed into telling about life with him and his OI, and started being viewed by more than friends and family.

When we were pregnant, a number of doctors and medical professionals threw around the word "lethal".  We were told by some that Isaiah wouldn't even be able to cry, that when he'd go to take a deep breath, his expanding lungs could break all of his ribs, the pain would be too much, and he wouldn't be able to take the deep breaths he needed to.

But that was wrong.  He did cry.  His cry was loud and it was beautiful.

Thankfully we had found Nemours (AI DuPont) while pregnant.  When we found Nemours, the word "lethal" was never brought on the table.  Instead, Isaiah's geneticist, Dr. Bober, would tell us that we couldn't predict what would happen, that we'd have to wait and see once Isaiah was born.  In the meantime, we worked with the Perinatal Coordinator and the NICU to set up a plan for Isaiah's arrival.

You can learn more about Isaiah's beginnings here.  For now, I want to share a video with you.  Back in July, during Isaiah's Pam treatment (Pam is what I call Pamidronate, the medicine that Isaiah gets every 2 months to basically help strengthen his bones), we helped Nemours to create an advertisement for their perinatal program.  We are one of three families that were to be featured in the video.

Recently, we were able to view the final cut. Check out Isaiah passing out in my lap (ha) while we shared pieces of our story below:

We love Nemours. I mean it when I say if it weren't for them, that I don't think he'd be here.  When I talk to other families affected by severe OI, I often hear that the word lethal continues to come up (even after the child survives birth, doesn't need breathing support or if they do, only minimal support, etc).  Thankfully, the teams Isaiah has worked with at Nemours never let that word affect how they cared for Isaiah.  They only ever believed in Isaiah.

And for that, we're forever grateful.

I'm attempting to get back to regular blogging this week for anyone who'd like to learn more details of our lives, from doctors appointments to play time.  I am working on posts for Wednesday and Friday about details of our first OI Clinic experience and his sleep study results.  :)