Today was the visit with the craniofacial clinic at Dell Children’s Hospital here in Austin. It didn’t go nearly as well as we had hoped….we were banking on “no big deal” knowing G’s head has always been a funny shape and lack of “symptoms” of brain issues.

As it turns out, there very well might be big concerns. Not being a doctor, I can’t explain it all in nearly as much detail, however in my layman’s terms: There is a suture in the back of the skull that fuses in adulthood – it stays open to allow for the brain to grow throughout childhood. 85% of the brain is formed by the age of 3, but there is a remaining 15% growth between 3 and adulthood (they don’t actually know at what age it typically fuses as it ranges all over the place). The doctor did an assessment of his skull and reviewed his prior MRI from 2013. She definitely has concerns that he has craniosyntosis, a birth defect in which one or more of the joints between the bones of a baby’s skull close prematurely, before the brain is fully formed. With craniosynostosis, his brain can’t grow in its natural shape and the head is misshapen. With the hundreds of doctor’s appointments over the past 3 years, I can’t believe this has never been mentioned – his head has always been huge, but no doctor ever seemed to have serious concerns.

As it stands now, the next step is for a CT scan of the skull to better see the sutures, and an MRI to see the brain and assess how much room is present for his brain to grow. If the results are of no significance, they will follow him. Otherwise, pending the level of significance, there are two courses of action:

1) a device of some sort is placed in his skull for a 3 day stay at the hospital which measures the pressure in this skull. This will provide more evidence of needing further action, or not.

2) surgery. A plastic surgeon, in conjunction with a neurosurgeon, open his skull and create new sutures to allow for expansion. Because G is already 3, this will most likely require taking bone from a rib or leg to create more “skull” and allow for growth over his lifetime. The goal is to have this surgery only one time and not have to open his skull again. This should allow for his head to be reshaped to be more “normal” and allow for plenty of future growth.

This obviously sounds overwhelmingly scary. The doctor did make a point to note this is not brain surgery, it’s skull surgery. It is awfully close to the brain, but it does sound an itty bitty better. 😉 Another bright side is that G has never plateaued in his therapy, he continues to make progress. If he had stalled out at some point, that might point to his brain being restricted and unable to develop new skills. We are hopeful that even if he is running out of room, he isn’t out of room just yet.

Without getting too wrapped up in the “what-ifs”, my immediate concern is the MRI/CT scan. Apparently it’s some super fast MRI that only requires a minute, so we are praying that will work and we can get good results from a local imaging center. His last MRI he had significant issues coming out of anesthesia, and I want to do everything to avoid that, as well as the whole hospital ordeal. We wait a week or so and then hopefully that will be scheduled. We have a follow up February 18th with the surgery team to determine next steps. Prayers are welcome 🙂



The adventure continues…

G met with his developmental pediatrician this week. He didn’t go through a battery of tests with each therapist to be scored on his developmental level, instead it was just a check-in, much to my pleasant surprise.

To note, this doctor has concerns regarding G’s super big head, and it’s funny shape – his skull is elongated more so than round. In my opinion, it has always been this way, however, she has concerns that perhaps some of his skull plated fused together before they were supposed to, forcing the skull to expand lengthwise. If that is the case, and if his brain is still growing, it will create pressure in this skull and cause really bad things. He doesn’t present any symptoms of this (headaches, irritability, nose bleeds, vomiting), and I really think he just has a big head, which is commonly found in these 3q deletion kids. However, to rule things out, he is being referred to a plagiocephaly clinic regarding “sagittal synostosis“.  We hope to get into the clinic in a few weeks for an evaluation which will likely include a CT scan. I confirmed he doesn’t have to go under (which was a terrible experience last time he has anesthesia), and will be locked up in a papoose – he will HATE it I am sure, but worth the few minutes of screaming!

Secondly, the doctor does notate some autistic qualities about G. Specifically repetitive play patterns, lack of reciprocal play/communication, atypical speech development and poor nonverbal communication. One example is that he doesn’t play much with a variety of toys but sticks to cars and books, for the most part. He doesn’t play back and forth with friends as we would expect at this age. He also is comforted by objects more so than people – as an example, we have always had a hard time getting him in the car – we have found if we give him a specific watch, he is completely fine. He should however, be comforted knowing his family is with him and that should be enough to ease his concerns. He is also developing quirks, such as, screaming like crazy every time we make a particular turn on the way home from school…it’s at the exact same place, and I am surprised he even knows where we are most of the time, but it is really bizarre. All formal evaluations for autism however require the child be ambulatory, and until then, it is hard to distinguish between development delay and autism.

We have agreed he is getting the appropriate course of therapies at this time, and should he plateau in one of them and not make continued progress, we may involve an ABA therapist to work on behavioral issues at that time. He is a busy boy already, so I am just fine to wait for any more therapies!!

Due to the length of the doctor appointment, G got to hang out with me until we could pick sister up, so we had a lunch date and a trip to WalMart – he LOVES going to the store, so that was fun for both of us. 🙂

One recent funny thing G does, when you say “knock, knock”, he says “who’s there?” and then starts giggling! It is so cute. He isn’t consistent about it, but probably performs half the time, and it’s the funniest thing to see him “making jokes” 😉


Back at it!

School started back a week ago, and G made it back for two days and was having diaper issues the other few days, so he had quite the abbreviated week. Mama C is hopeful we are over it and he can get back into the routine – today’s drop off was a bit rough!

One thing we did over the break was turn G around in his gait trainer – you can see here he is less supported, but with the front being open, he is better able to access activities at school and in the classroom. This set up is also similar to a walker, which he will (hopefully) move to, which looks similar but without the support around his core.

G new GTHe isn’t quite as proficient with this set up, and the swim noodle helps keep his pelvis forward, but that back right foot often gets caught behind. He also needs constant reminders to put his hands on the handles – if he would do that, it helps give him more support and would be much easier, but he has no interest. His creative teacher put some pictures of Mickey Mouse on the handles, so maybe that will be more incentive for him to do it!? Hopefully with practice he will improve with this set up, and I am thinking with music therapy and a metronome as a reminder to keep marching to pace, it should help.

<img class=" size-medium wp-image-518 alignleft" src="×225.jpg" alt="G show and tell" width="300" height="225" srcset="×225.jpg 300w,×300.jpg 400w, http://www vendre 800w” sizes=”(max-width: 300px) 100vw, 300px” />G has show and tell at school every other week – here you see him sharing one of his favorite new cars with the class. I love seeing these pictures of him interacting with his class in the same ways as his peers. 🙂

As of Jan 1 our insurance changed, which means we have to go through the approval process for G’s therapies – I kinda hate missing out, but it’s also kind of a nice break to get home and have fun, instead of right to therapy! Hopefully all the approvals will be in place in the next week….

Tomorrow is the dreaded visit with the developmental pediatrician. It’s just the annual reminder of how far behind G is in his development, and while of course we aren’t surprised, it’s always a bit tough to hear. He has been working so hard though, I am hopeful we will see some big jumps in his scores! Stay tuned!