i’ve been pretty absent from the blog so i thought i would share what’s been going on lately. i debated writing about this because i didn’t want it to sound like i think our life is bad or harder than others. truly, it isn’t. AT ALL. but it has been a struggle that we’ve had to deal with. i’ve partly been absent because i haven’t been taken any sessions on my own. and i was supposed to do a 365 day project, but let’s just say that my subject is less than cooperative. between finishing up weddings, designing wedding albums, and the sessions i’ve had with jenny, i’ve been trying to prepare for the baby. just to warn you, this is going to be long and probably pretty boring, but i wanted to put this out on the web for anyone else searching for what i’m about to share.
back to the ultrasound. the day after our ultrasound, we received a call from Kaiser and were informed that they wanted me to come back in for another ultrasound, but this time with genetics. our baby girl’s lateral ventricles in her brain were measuring slightly larger than the normal cutoff range. they tried to reassure me on the phone that it was likely a slight mis-measurement and everything was probably okay, but nonetheless, they wanted to make sure. they thought she had what is called mild ventriculomegaly which can indicate a chromosome abnormality like down syndrome. we had to wait all weekend until our ultrasound appointment. i was filled with lots of ups and downs. one minute resting in God’s promises and plans and the next minute freaking out a bit. i’m so thankful for all my friends who were praying for us during this time and who continue to do so. her ventricles ended up measuring slightly less than before, just within the normal range, but from what i’ve read still probably larger than average. i am choosing not to dwell on that though. everything else on the ultrasound looked great so everything with her is probably fine, but really we won’t know until she’s born and starts growing (as with any baby).
where it gets interesting, at least for me, is that during the ultrasound, the geneticist and genetic counselor asked about our family history. after telling them about mason and some of the things he has, they suggested that we get his blood work done so they could map out his chromosomes. i’ve always wondered if there was something there so i was more than willing to get him tested. why have i always wondered about this? when mason was born we noticed that he had partial syndactyly on his second and third toes on both feet (webbed toes). not uncommon on its own and none of his doctors has ever thought anything of it. mason rolled over at 3 months, crawled at 7 months, but then didn’t walk until 18 months. i always thought this was late, but apparently it is right at the edge of the normal range. at around 15 months, mason wasn’t saying any words. he never really babbled much either as a baby. his pedi sent him to a speech therapist for an assessment who referred him to an occupational therapist because she thought he might have a sensory issue or autism. the occupational therapist didn’t see those signs but instead noticed that his movement wasn’t very smooth or fluid so she called in a physical therapist who saw the same thing. the physical therapist then referred him to a neurologist (who he sees currently 2-3 times a year). a round of blood work was ordered to look for a muscle disorder and when that came back fine, an mri was ordered. when the mri came back, it showed that mason had a chiari I malformation (the base of his cerebellum extends partially into his spinal cavity). thankfully, it’s only a level I and he shouldn’t need surgery. he does however need to have an mri done every year probably until he’s an adult or stops growing to make sure that nothing changes. he also sees a neurosurgeon who goes over the mri with us. he’s had his hearing tested, his vision tested, and had a podiatrist because his foot was curved and he had to wear a special shoe. plus, he now has a geneticist. this kid has had more doctors in his 4 years than i probably have in my whole life.
since then he has continued to struggle with his speech. for about a year and a half he got speech therapy through the regional center and when he turned 3 he started attending preschool for his speech through the school district. his neurologist didn’t think that his chiari was severe enough to be causing his speech/learning delays or his movement issues. so we were left kind of wondering, why does he have these delays? his chiari, delays, and webbed toes just made me think that something else was going on, but nothing we’d read explained any of it. each on it’s own isn’t really cause for concern, but together, made me wonder if there was a reason he had all of them.
fast forward to about a week ago. the geneticist called with mason’s blood test results and finally after 4 years we have a diagnosis! he has a genetic disorder called 16p 11.2 microdeletion syndrome meaning a small part of his 16th chromosome is missing. this is why he has webbed toes, probably the chiari malformation, and the delays in speech and gross and fine motor skills. when we read the description it explained all of it. no other syndrome, etc. that we’d read seemed to fit, but THIS totally described him and all his struggles. our next step is to have an echocardiogram done to check for any heart defects because kids with this deletion have a higher percentage of heart problems. and then we have to fill out a stack of forms and questions to have him evaluated for autism to see if he has any signs of being on the spectrum. i am confident that he doesn’t have classic autism, but he may have some symptoms that put him on the spectrum although i’m not really worried about that. even the symptoms that might be a little concerning are pretty manageable.
So whether the baby has anything wrong we won’t know until she’s born although from our experience it could be many years later. however it did lead us to a diagnosis for mason. we’re thankful to finally know what’s causing his delays, but at the same time because the disorder is rare and has been discovered somewhat recently, there’s not a ton of information out there. there’s a wide range of disability so it’s hard to know what to expect. apparently some with the deletion don’t have any signs or delays and then there are some whose delays are more severe. while mason’s speech has improved a TON, he’s still pretty far behind his peers. he’s talking a lot more, but his articulation is still pretty delayed. he can run and jump, but when i look at his friends there’s definitely a difference in how well he moves. he’s a very cautious and hesitant kid which could play a role in some of it. and perhaps he knows his muscles and coordination are lacking and that’s what’s causing his caution. who knows.
what i do know is that he’s is a very happy and sweet little boy who is growing and developing. and while occasionally my emotions get the best of me because his future is unknown right now as far as how he’ll develop and progress from here, i have to remind myself of how far he has come and that he’s the same little boy who melts my heart everyday.
on top of that, we just received our home loan modification terms and it looks like we need to find somewhere to live in the near future. the terms seemed pretty ridiculous, but it was worth a shot. our last day will probably be pretty sad, but i’m actually kind of excited about it. i definitely won’t miss the wasps and mosquitoes! but i will miss our friends who live 4 houses down:( and randomly, i will miss our shutters because they really keep the temperature controlled.
and on top of THAT, my grandma passed away last weekend. she was 96 and her health had declined a lot in the last 5-10 years so it was a long time coming. i don’t know that i’ve really grieved because of all that’s going on right now. every now and then the reality comes over me like a wave and then the waters are calm again for a while.
so that’s pretty much all of it. if you made it to the end, thanks for hanging in there!
)! Can’t wait to meet your cutie-pie and love her with all of her little girl goodness!!!
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