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13 Month Update

Happy Holidays to all! Since we last wrote, Benjamin turned ONE on 10/18. Ben loved his first bites of frosting/cake. He definitely has a sweet tooth! Speaking of teeth, he has 8. He says mama, dada, nana, baba. He's still happy go lucky as ever and has a rocking head of blonde curls. Hard to believe that our baby is now entering “toddlerhood!”r Aside from enjoying the awesome fall weather, we've had our fair share of appointments lately. The month of October we had 15 appts and/or therapies, 15! Probably the nurse in me, I'm used to giving report system by system, so it will be easier to update that way too. *Neurology- Ben has had intermittent "spells" where his eyes roll upward and he zones out for a few seconds. He did this in front of the doctor at Children's a few times which warranted us a EEG to rule out seizures. In short, it was not fun. Poor Ben had be "sleep deprived" only allowed to sleep12am-4am. Nearly impossible for a sleep loving kiddo like Ben. We did our best and then similar to his overnight sleep study, they attached 20 probes to his scalp and chest. Ben was hysterically crying throughout. It was pretty painful to watch. Then he was allowed to sleep a short time, then awoken with strobe lights. Afterwards was lots of snuggling and naps for the both of us. EEG was ultimately negative for any seizure activity and his spells have seemed to lessen as of late. Next, we will follow up with Neuro in January regarding Ben's developmental growth. And possibly see a Developmental Medicine team at Children’s. *Cardiology- Late September Ben had another ECHO (heart ultrasound) we've been doing these every few months to assess his heart defect. Unfortunately his aorta has continued to dilate. They measure this by the "Z Score"- it should be 0-2, Ben was 2, then 3, now he's 4.5. We check again in March. If it's worsened at that point, he will start on a blood pressure med to alleviate strain on the heart but we aren't there yet. We were pretty bummed to hear this to say the least. I'm hoping and praying with a growth spurt, the dialation will narrow and be "within normal limits" We'll see. *Genetics- Matt, Ben and I met with the geneticist again. We had a pretty heavy conversation of where Ben is at, where we are heading, and what all this means. Given that Ben has so many outlying issues but no overarching diagnosis, it's been mentioned to us he could have a genetic syndrome that's underlying all of this. All 3 of us gave blood samples. They drew a panel to check for syndromes releated to Ben's heart defect. Additionally, we are part of a genetic study that is helping to diagnose these sorts of rare diseases. If we don't find any answers with this panel, we'd move to Whole Exome Sequencing (WES) testing- a very expensive more thorough look at his genes. *Opthamology- Ben's Strabismus, or weaker eye, we are continuing to patch daily. Because of his Hypotonia- low muscle tone throughout, it affects literally every muscle group including his eyes. This could be affecting his vision and depth perception. He also plays with his toys very close to his face and is also very drawn to grabbing our faces and studying them. The plan is to have corrective eye muscle surgery which I'll get to in a bit. We're also in the process of getting "Vision Therapy" (who know these specialists existed? But they do) from Perkins School of the Blind this week to evaluate Ben's functional vision and also other creative techniques to help optimize his vision and the way he views the world. *ENT (Ear/Nose/Throat)- The "laryngomalacia"- floppy airway that was causing trouble breathing in the first few months of life is stable and just bears watching for now, yay. Meanwhile he's had 3 hearing tests that suggest a mild hearing loss and also show fluid present in one ear. He's also had 2 back to back ear infections. High fevers, 2 rounds of antibiotcs that then caused thrush and a yeast infection, and teeth staining ugh. The infections have cleared thankfully. He will need ear tubes in each ear to drain the fluid which will alleviate the fluid and reverse that hearing loss hopefully. He seems to hear absolutely fine. But again if it's not addressed it could worsen and we don't want another aspect of his development to be off. Throat wise- he's having difficulty with eating solids and textures. He does great with pureed blends but has a strong gag reflex and aversion to pieces of anything. It's slowly getting better. We've since started "Feeding Therapy" weekly with a speech pathologist in Medford. She's excellent and helps with pushing Ben's tolerance and helping us advance his diet. We also looped in a Nutritionist from Children's to help the transition from formula to milk and keep up his weight since he's on the smaller side believe it or not, he's in the 30% percentile. His GI Doctor would like to do an "endoscopy" or scope his esophagus to rule out any other reasons why his swallowingmight be delayed other than the known Hypotonia. Apparently it takes a lot of msucles to swallow too! *PT/OT- For his Hypotonia he's been working really hard weekly with PT and OT to help his gross and fine motor skills. Gross motor wise he graduated from the inchworm to a more traditional “crawl” of side to side, bearing weight and pushing up on his hands. Yay!! Next is working on balance and standing. We saw a Physiatrist this week at Children’s who said she’s “confident Ben will be a walker with time and therapy” which was encouraging to hear. We may or may not need to brace/stabilize his ankles but we’ll see once he gets the standing part down. We also met with an Orthotist who fit Ben for a SPIO compression vest. Like athletes wear Under Armour, Ben wears the vest to give his core/trunk that muscle input which should help him feel more stable and secure and therefore able to explore his environment better. With OT we are working hard at the fine motor stuff- trying to clap (he really enjoys this) and also isolate his fingers to point, wave, hold toys, and transfer objects from hand to hand. None of these come easily or naturally for Ben. The things we take granted for sometimes. We just got a surgery date of 12/16. So the 3 procedures Ben needs to have done are the 1) corrective eye muscle surgery 2) ear tubes placement 3) endoscopy (or scope) his throat. Therefore we had to transfer 2 of his doctors over to Childrens from Mass Eye and Ear so everyone was under the same roof. Ben's cardiologist didn't feel comfortable with him underoing anestheisa anywhere but Children's in case God forbid. That being said, we met the new GI and ENT at Children's last week and finally all 3 are in place. Now we just await Cardiology/Anesthesia consult. Meanwhile, Matt got a new job! He's really excited as it will be a great opportunity to expand his experience. He starts this Monday. We are thankful for much this holiday season... Ben's sweet silly nature, a great support system, access to top notch hospitals, our dogs, and all the family time we can get outside of this "stuff" to just be and enjoy our perfect little boy. Thank you for reading this lengthy post. Lots to say about our wonderful Benjamin!!

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