We finally got results this week from Mason's sleep study he got 6 weeks ago. First of all just for a refresher here's the reason why he got a sleep study. Scroll to the end if you'd like :)
Right before we moved from Cleveland to Seattle in May we met with Dr. Moss in genetics. He gave us all the results from Mason's genetic panel and told us that Mason has SPTAN1 mutation which causes all of his health issues. During this appointment Mason was asleep in his carseat and was snoring pretty loudly like usual. Dr. Moss asked if he snores like that a lot and asked if he had gotten a sleep study done. We said he snores all the time and no he hadn't had a sleep study done. Dr. Moss said that a lot of kids with neurological issues have sleep apnea and after hearing his loud snoring he was afraid that Mason has it. He sent a referral to sleep medicine and a few weeks later we went in for the sleep study.
The sleep study at Cleveland Clinic was horrible. I've realized that 95% of how well a sleep study goes is how good of a tech you get. The funny thing is that the tech talked herself up a lot saying she'd been doing this for 20 years and she's the pro. To make a long story short she didn't secure any wires well enough and they kept coming off. She came in about every 30 minutes throughout the night (while turning on the overhead lights) to fix wires. She continually pulled tape off Mason's face throughout the night which made him really mad. I just assumed that every sleep study is horrible and vowed to make Casey do it next time we had to do it.
When we got the results that Mason has severe sleep apnea I was frustrated because I knew it wasn't a great representation of his normal sleep. I wondered how many times the wires came off and showed he wasn't breathing well just because they weren't transmitting. The ENT that gave us the results said in his 20+ years of being an ENT he had never seen such horrible results from a sleep study. Pretty much Mason had 33 apnea episodes during the night which is very severe. The funny thing is that I had NEVER worried at all about sleep apnea with Mason. He has never gasped for air or stopped breathing (that I could tell). He's slept right next to me his entire life so it was a huge surprise to me. Hearing that he had severe sleep apnea was so frustrating! The ENT said we needed to meet with a doctor in sleep medicine to go over options. We were moving in 2 weeks so I set up an appointment to meet with an ENT and sleep medicine for right when we got to Seattle.
We met with Dr. Inglis in Seattle the day after we flew in and I don't think i've ever been so scared for an appointment in my life because I had no idea what treatment he'd had in mind for a baby with severe sleep apnea. He put a scope down Mason's throat and pretty much said Mason is floppy on the inside and outside. He gave us options that I mentioned here. In short he pretty much said there's nothing surgically that he could do that would solve the problem so he sent us over to sleep medicine. Sleep medicine was a breath of fresh air. Dr. Amber was so sweet and understanding. She eased all of my worries and promised that Mason would be okay and they'd figure out something that would help him and wouldn't be invasive. She started Mason on 2 medications to help open up his airway. She also wanted a repeat sleep study after I explained to her how the one in Cleveland went. We scheduled the next available sleep study which was 3 months later... She also wanted Mason to meet with a respiratory therapist to try out a cpap in the meantime and then during the sleep study he could be tested with it on to see if it was an option. The cpap seemed like an awesome option to me but Dr. Amber explained that with kids its really hard to get a cpap to work because they are scared of it and hate it and rip it off their faces and it doesn't end up working out. She said if Mason started cpap he'd be the youngest kid at Seattle Children's to be on one.
Not amused with the cpap fitting
Now the sleep study at Seattle Children's: Oh glorious Seattle Children's sleep clinic, it was heaven when I walked in after that horrendous experience that was Cleveland Clinic sleep clinic. First of all the sleep clinic at Seattle Children's was so welcoming. It looks like a really nice hotel and was so clean and decorated really cute for kids. We had an awesome tech that made everything super easy for us. She had everything ready right when we got there at 6:30 pm. She started getting him ready and was pretty much done with everything at 7:30 so he could go to sleep when he normally did. She had a night light for us and white noise and we both fell asleep amazingly. I only woke up once during the night when Mason started moving around and the tech was standing right next to him with a tiny flash light fixing things. We slept until 6:00 am when the tech came in and said we could go home. She took everything off Mason in about 5 minutes and we left! It was so impressed with the entire experience and I cried happy tears that it went so well and they got a good reading.
Now the results!
We had to wait until yesterday to get the results from the sleep study. This time we met with Dr. Chen who is the sleep medicine and pulmonologist specialist at Seattle Children's. She said Mason's sleep study improved a ton! He only had 3 apnea episodes instead of 33!!!!! Of course the goal is zero but he went from worst case crazy severe sleep apnea to mild sleep apnea! Most likely he never had severe sleep apnea and the sleep study in Cleveland was invalid. Dr. Chen said he won't need a cpap anymore! When he turns 3 he'll most likely have to get his tonsils and adenoids out since that's when they start to grow and cause more issues but until then we don't have to worry about sleep apnea anymore! Hallejujah! I'm so happy!
However, we don't usually get all good news unfortunately. Dr. Chen said we do have to worry about some other things. Mason's swallow is so weak that he aspirates a lot and can't swallow his spit and clear his throat normally which makes him cough a lot, and gag, and sound congested. We have a high power suction machine that helps a bit but Dr. Chen is really concerned that he's aspirating more than we think and he's at a high risk of getting pneumonia. Mason get's sick a lot - about every 2 weeks he gets a worse cough than normal and he can't tolerate his feeds for a few days. Dr. Chen said this is probably due to him aspirating and he is at a high risk of getting major illness especially during flu season since his lungs are already comprised. To help reduce the risk of aspirating Mason isn't allowed to eat anything by mouth anymore until he gets a repeat swallow study.
Dr. Chen also thinks that Mason is refluxing a lot since his throat muscles aren't strong. She's worried that this is also causing him to aspirate.
All of this wasn't really a surprise to me because he always sounds gunky like he's trying to clear his throat but there hasn't been anything that could be done to help. Mason will just cough and gag and eventually throw up when he can't swallow all the gunk in his throat. Dr. Chen wants to do everything possible to keep Mason's lungs clear so we're going to try out a few things and see what works. First thing to try is a cough assist machine to help Mason be able to clear his throat more. We'll go to a respiratory therapist to be trained on how to use it.
Later down the line she wants to switch Mason's G-tube to a GJ Tube which I'm pretty bummed about. Of course if it will help him i'm all for it, but a GJ tube will change the way we feed Mason and I'm afraid he won't do well with it. A G-tube just connects to the stomach but GJ tube has 2 ports: 1 for the stomach and 1 that connects to the jejunum. Instead of being fed into his stomach Mason would be fed into his jejunum to reduce reflux and the risk of aspirating. It doesn't sound like a huge deal but Mason would have to be fed continually at a slow drip into his jejunum. Right now Mason gets bolus feeds every 3 hours. The jejunum can't handle bolus feeds. In the past he hasn't done well at all with continuous drips and he would just throw up multiple times during the day. That's why I'm concerned. He'd also have to be put under to get the GJ tube placed and I wouldn't be able to change it on my own and he'd need to be put under to get it changed out.
Lastly, New Food for Mason!
Since Mason is over a year we've been transitioning him from an infant formula to a pediatric formula. He was on Similac Advance and a few weeks ago we started the change to Nourish. I am so excited about his new formula because it's organic and whole foods. I tried hard to find the best formula for Mason because what goes in his tube is his whole source of nutrition. I was freaked out when initially the dietitian gave me choices for pediatric formulas and all of them had corn syrup as the 2nd ingredient in them. I'm not against corn syrup at all in sweet treats but in an infant formula I want to stay far away from it. I looked into other options and found Nourish from Liquid Hope. It's an amazing company and an amazing formula and I am so happy that after a bunch of hassles and issues our insurance is covering it!
We sure love our little Mason muffin and we are always in awe of what a tough little guy he is. He brings us so much joy and we're so excited to see him grow and develop at whatever pace his little body will let him.
