Neurology Highs and Pulmonary Lows

A lot has happened over the past few months! First, Mason is off of Sabril! We have loved Sabril in that it has given Mason seizure freedom but we're also really glad that he can be off of it now. He's still on Topamax as a maintenance med but it doesn't have as many side effects as Sabril. It has been 2 weeks since his last dose of Sabril and i'm trying not to stare at him and stress out about seizures coming back but boy is it tough.  I've always tried to be cautiously optimistic but I wish I could just get rid of that "cautiously" part sometimes! So far so good, deep breaths.

Mason had an EEG at the beginning of this week to make sure the hypsarrythmia is still gone. The hypsarrythmia, or chaotic brain wave patterns, is the worst part of Infantile Spasms. It makes infants unable to process information normally so naturally getting rid of it and keeping it away is the goal of treatment. The actual EEG recording (not the results) was the worst one yet.  Thankfully all our other ones went pretty well but for this one just about everything that could've went wrong, went wrong. First it was a 3 hours EEG which is asking for issues.  Most routine EEGs are 90 minutes tops, but Dr. Bozarth wanted a longer one to make sure everything was good.  Once we checked in I was praying and hoping that we'd get our favorite EEG tech, but no we got my least favorite one.  Mason was supposed to sleep for at least half of the EEG but slept for probably 30 minutes.  He also pooped a few times (which really bothered the tech), threw up, and the bag that his food goes into got clogged so I couldn't feed him at all during the EEG.  We made it though and the next day got a call from Dr. Bozarth that everything looked great!! Yay! Now we don't need to see neurology as often and we can move neurology from the active treatment column to the maintenance column. This is HUGE!

The specialty that is still in the active treatment column is Pulmonary. Pulmonary treats sleep issues and lung issues. Mason got cleared of sleep issues after his last sleep study came back good but over the past few months we've had a lot of lung appointments to figure out how to help Mason with his constant "junkiness", chronic cough, and vomiting. The main concern with Pulmonary is aspiration.  Mason can't swallow effectively so he aspirates a lot.  When he aspirates fluid goes into his lungs which causes inflammation, pneumonia, and other issues. When Mason can't swallow all the phlegm in his throat he gags or coughs to clear it but because his lungs are weak he can't clear it so he throws it up which also increases the risk of aspiration.  In the past the doctors have thought his "junkiness" (or loud, gunky breathing) was due mostly to reflux, but now they think it's also due to inflammation due to aspiration. Aspiration causes a constant never ending circle of sickness for Mason. The doctors have been trying different treatments, starting with the least invasive, to see what can help Mason's lungs stay healthy and help him breathe well. The first thing that was tried was an inhaled corticosteroid (Flovent), which he's still on.  We think Flovent has helped a little but nothing major. Last appointment Albuterol and Prednisone were added. Albuterol is also inhaled but it's a rescue inhalant for Asthma. The pulmonologists want Mason to use it every 4 hours to help his lungs out. The Prednisone helped Mason tons.  While he was on it he didn't throw up or cough much.  He's off it now because the doctors don't want him to be on it long term.

During this past month since our last appointment with Pulmonary Mason has been sick a lot.  He has been throwing up his feeds a lot more than usual and since coming off of Sabril he has been having withdrawals from it.  He cries a lot more than usual, and sometimes cries so much he throws up.  It is so incredibly sad. The day after Thanksgiving I had to take him to the doctor because he seemed sicker than usual.  Turned out he had a sinus infection and the pediatrician said his lungs sounded like he had some mild pneumonia. He's been on a strong antibiotic since then and thankfully he's doing better. In short this past month hasn't been a good healthy one for Mason so I was anxious to meet with Pulmonary today to find out what the "next steps" are. The appointment didn't start off great when Mason got weighed and he had LOST weight this past month. When the nurse told me I felt like I got punched in the stomach. All that worry about losing weight is back. Arg. Doctor Soares spent a lot of time talking about what we should do next for Mason.  In her opinion the best next step is switching Mason to a G/J tube.

 I talked a little bit about a G/J tube in my last post and I've been preparing for it a bit but it still will be tough. Change is extremely tough for me in regards to Mason's treatment.  It seems like when I finally get comfortable with something it gets changed.  Such is the nature of treatment with a special needs child I suppose.  A G/J tube is just like Mason's current G-Tube except it has 2 ports, 1 for feeding the G (the stomach) and 1 for feeding the J (the jejunum).  Mason will be fed into the jejunum instead of his stomach.  This helps with the throwing up issues and also cuts reflux down a lot.  The major concerns that I have with a G/J are that feeds need to be continuous through the jejunum.  The jejunum can't hand a large bolus feed like the stomach can.  Right now Mason only gets bolus feeds so we'll have to change to continuous.  This mean that Mason will always be hooked up to his pump and his pump will be feeding him at a slow drip for 20 hours a day. This is a huge change, doable but definitely tough to get used to.  Another concern I have is that the G/J tube will have to be placed while Mason is under anesthesia since the J port has a long tube connector that bypasses the stomach and goes into the jejunum.  This is done through interventional radiology.
I talked about my concerns with Dr. Soares and she said that we'll hold off on placing the G/J tube until the beginning of February and in the meantime start with continuous feeds through the G to see if there's improvement.  If there's improvement he'll still be fed continuous but he won't need to get a G/J placed.

I've realized that I really have no control over what happens with Mason. This lack of control used to give me anxiety, but lately it has given me peace. I've realized that my lack of control is a good thing.  God is in control and I don't need to be.  He knows what is best for Mason, and I need to have faith. Faith is what give me hope.  Not necessarily hope that everything will be perfect and Mason will get better but hope that I can be okay and accept God's will.   I am so grateful everyday for this perfect little angel boy who has given me so much happiness and love.  He has taught me more than I could have ever imagined I could learn.

Now for some comic relief. This story is too good not to share on here. We went to a high school basketball game over the weekend to see a boy in our ward play on the Sophomore team. There wasn't much seating because it was in a small gym so we sat right behind the away team's bench. During the last few minutes of the game Mason projectile barfed his yellow food all over the away coach's back. Mason doesn't usually projectile barf but of course right then he did. We were dying. Casey tried to wipe it up but it just smeared on the coach's nice blue button up shirt. We tried to explain to the coach but it was a close game at the end and he just looked weird at us and thought we were trying to bother him or get his attention so he just said not right now. At the end of the game the coach jumped up to shake hands with the other team and the home team coach put his hand on the coach's back onto all the barf. It was horrible. Casey went and explained what happened and gave the coach money to get his shirt dry cleaned. The coach was really nice but we were glad he couldn't see the extent of the stainage on the back of his shirt. That yellow food stains big time. I wish I would've taken a picture but I was too horrified to. It was so sad yet so funny.

Mason with his awesome sisters and amazing daddy

Sleep Study Results

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.

Summer updates on Mason

I wanted to post some updates on Mason since it's been a while and he's had a lot of appointments this summer. First of all, I have absolutely loved Seattle Children's.  My heart hurt leaving Cleveland Clinic because they took such good care of Mason and I loved Mason's doctors.  However, transitioning to Seattle Children's has been such a positive move in Mason's treatment. I felt like we were at a standstill in his treatment in Cleveland.  His neurologist just wanted to wait and see and didn't think any more EEG's were needed for a while.  His neurologist here in Seattle has been very proactive in Mason's treatment which has been awesome.  I have also been really impressed with all the other specialists we've seen at S.C. Here are some updates on some of Mason's recent appointments:

Mason had a routine ophthalmology appointment a few weeks ago with Dr. Baran. This was his first appointment with ophthalmology here in Seattle but in Cleveland he saw three different ophthalmologists. Mason has had a lot of eye appointments because of his cortical vision impairment and because of the medication, Sabril, that he's on.  Sabril is an amazing drug that has gotten rid of Mason's seizures but one of it's potential side effects is peripheral vision loss so the FDA requires children to have routine eye checks while they're on Sabril.    I was SO impressed with Dr. Baran and Seattle Children's Ophthalmology department. In the past we were told that Mason's eyes look perfect anatomically besides grayish optic nerves of unknown significance. The doctors have just told us that Mason has visual processing issues and there's no further testing they can do.  However, Dr. Baran spent a lot of time with us and set Mason up with a VEP test for the next day. A VEP (Visual Evoked Potential) measures the brain's response to visual stimuli.  Mason got hooked up with a bunch of electrodes on the back of his head (the occipital lobe) and then he sat on my lap and the doctor set us in front of a TV screen.  The screen then showed different shapes and colors and flashed.  I had to close my eyes because it starting making me nauseous so I'm not quite entirely sure what images were shown.

We got results the next day from Dr. Baran.  She said that the test results were good, yay for good news! It was thought that Mason has severe cortical visual impairment but now it's just classified as moderate. She said he responded well (although not normal) to black and white horizontal stimuli which is helpful to know for future visual therapy.  At this point Mason sees like he's looking through a kaleidoscope or a piece of swiss cheese.  He can see but his brain doesn't make sense of it and put it together normally, but black and white horizontal stimuli are easier for his brain to make sense of.

Before we left for our trip to Utah we met with Mason's neurologist, Dr. Bozarth again.  We had planned to leave to Utah a week earlier but Dr. Bozarth got Mason's case approved to be a part of the University of Washington's neurogenetic research clinic and the only day the research team could see us was when we were going to be gone so we switched around our plans (it was worth it). The research team consists of a neurologist, geneticist, and a genetic counselor. The team has been studying Mason's case to find out more about SPTAN1 mutation (Mason's diagnosis).  We met with each specialist and in their studies they found that there are only 7 other known children in the U.S. with Mason's same gene mutation. All of those children are under the age of 5.  All known children with the mutation have Mason's same symptoms: infantile spasms, hypotonia, feeding difficulty, and vision problems. In short, not very much is known about the mutation and there's no information on prognosis, however, the research team is going to work to find out more about SPTAN1.

Something that I've never gotten a lot of answers from a doctor about it is Mason's prognosis but during the neurogenetic clinic appointment I was able to talk to the genetic counselor more about what to expect. Honestly no one knows really what to expect with Mason but the genetic counselor laid it out like it is. Mason has a gene mutation that causes his symptoms. Those symptoms will ALWAYS be there.  They aren't going to miraculously go away. The mutation is embedded in his DNA and it's unchangeable. He could get stronger and the symptoms may not be as bad-which is one of our deepest hopes, but it's likely that progress will continue to be slow like it has been.

Last week Mason had his first visit in the neurodevelopment clinic.  Neurodevelopment kind of takes the place of Mason's pediatrician. We still take Mason to his pediatrician for vaccines and minor sick visits but neurodevelopment is like a pediatrician who specializes with kids with neruological disorders. This clinic has been AMAZING.  It's something that we didn't have in Cleveland and we have been so blessed to be able to take Mason to this clinic. At this visit we met with a neurodevelopment specialist who went over supplies and equipment Mason needs.  She filled out all the paperwork so we could get a handicapped parking placard and filled out Mason's formula orders. In the past I've had to call doctors to get orders signed for supplies and formula but now neurodevelopment does everything for me! We'll continue to have appointments in the ND clinic every 3 months.

I thought I'd answer some common questions I get about Mason. Some of the most common questions I get asked about Mason is "will he out grow the seizures?" or "How long will he need the g-tube?" and "why does your little baby snore like a old man?" and lastly "will he ever be able to walk?" (which I wonder how random people have the guts to ask me that question).  I am fine with people asking me questions, but I think that understanding that Mason has a genetic disorder brings light to what can be expected.

How long will Mason need a g-tube? Mason has a genetic disorder that makes it hard for him to eat.  Eating will always be hard for him.  We have no idea how long he'll need to have a g-tube.  He gets 100% of his nutrition from the g-tube and a few tastes of food orally during the day.  He needs to be able to get 100% of his nutrition orally to not need the g-tube.  It is very difficult for Mason to eat orally because he has poor muscle tone.  He can't hold up his head and the muscles in his neck, throat and mouth that are involved during eating don't have tone either.  Imagine trying to eat after you've gotten dental work done and you can't control your mouth because it's still numb. In a way that's how difficult it is for Mason to eat.   The G-tube is one of the least of my worries but it seems to bother people that he has to be fed by a tube... I love the tube and am grateful for it because it allows Mason to LIVE!

Will Mason grow out of the seizures? He hasn't had any seizures since January thanks to Sabril. We hope he'll never have another seizure but we have no idea because Mason's genetic mutation makes him more prone to having seizures. This month he's going to slowly be weaned off of the Sabril.  We pray that the seizures wont return like they did when we weaned ACTH (steroid injections).  Since the Sabril has been so effective at getting rid of the seizures and the hypsarrhythmia we have a lot of hope that they won't return.  However, Mason will most likely have to stay on some kind of seizure medication long term.  While weaning Sabril he'll continue to stay on Topamax which is a longer term maintenance seizure med.

Why does Mason snore so loud? He snores so loud because of his poor muscle tone.  The muscle in his throat aren't strong like a normal person so when he breathes the air hits all the tissues in the airway and makes his breathing (and snoring) super loud.  It's because of this poor muscle tone that he has sleep apnea as well. More on that: Mason got a repeat sleep study last week to see if he really does have severe sleep apnea like the last test in Cleveland suggested. We don't have any results yet, but I at least feel like we got a better reading than the last study.  Mason was sick during the last study and he never really got into a deep sleep, but this most recent study went a lot better and Mason was a lot more comfortable. We meet with sleep medicine next month to get results and go over treatment options which may be a cpap, or supplemental oxygen at night.

And my least favorite question: Will he ever be able to walk? I wish I could say, yes he'll be able to walk next year, but again we have no idea.  For a sweet baby that can barely hold his head up and just started being able to bring his hands to his mouth we don't expect much but every little inchstone is a miracle to us and we celebrate those inchstones like crazy. He continues to make progress being able to hold his head up but again it's so slow. Poor muscle tone is killer. You take for granted being able to hold your head up until you see your sweet baby try so incredibly hard to just hold us his head. The main thing that helps with poor muscle tone is physical therapy.  Mason gets weekly physical therapy and we continue to work with him to give him any added help we can to build up those baby muscles.

I am in awe of what a sweet little baby I have.  I love him so much.  He is so tough and so loved.  Thank you all for your prayers for Mason and us.  We appreciate them so much!

Mason's Seattle Update

We made it to Seattle! We have loved it so far.  Here are a few of my first impressions:

-It's beautiful!
-Mt. Rainer is HUGE and breathtaking!
-Seattle is a melting pot which means there are so many awesome places to eat (i.e. tons of good teriyaki places and Indian food).
-Everything is expensive here (i.e. Little Caesars hot and ready pizza are $5.99 here!!!! The nerve!)
-There are tons of Costcos and Fred Meyers.
-I went to turn on the A/C in our house when we first moved in and it was nowhere to be found! Come to find out almost no houses have A/C here.
-Tillamook Ice Cream is heaven
-Traffic here is nuts!

We have spent most of our first three weeks here traveling to and from Seattle Children's hospital for appointments for Mason.  We live about 45 minutes away from the hospital but I found out quick that that 45 minutes can turn into 90 minutes at any given moment. Before we moved I made sure to set up as many appointments I could here in Seattle for right when we moved so that we could get established with all the new doctors asap. Since we've been here we have had 7 appointments. We've met with general surgery, ENT, nutrition, neurology, EEG, social work and sleep medicine.  So far I've been really impressed with Seattle Children's.  Their home health and nutrition have been super helpful and great to work with. Here's a recap of Mason's appointments if you're interested:

ENT
We met with Dr. Inglis and his nurse practioner to go over options for treating Mason's severe sleep apnea. Mason got a sleep study done a few weeks before we moved and we found out he had 32 apnea episodes which is pretty bad. Since we were moving so soon we had to wait to see an ENT until we moved.  Dr. Inglis didn't sugar coat anything which is good and bad. He put a scope down Mason's throat which was very traumatic for Mason (i'm sure it would be for any child!). He said after looking over Mason's file and test results we have a few options all of which made me want to cry for my poor baby. Note: In his opinion, taking out his tonsils and adenoids isn't an effective option because they're so small it wouldn't make a big enough difference. Option 1: Shaving part of the tissue above the vocal folds to increase breathing area. Option 2: sewing part of the epiglottis to the wall of the throat to help stabilize it (the epiglottis is the main culprit to his breathing issues.  It's supposed to be strong but Mason's is floppy). Option 3: Cpap and oxygen at night which is by far the least invasive but it would be hard to keep the equipment on him at night and therefore wouldn't be helpful enough Option 4: Something I won't even write because it freaked me out and it would be a last ditch effort.
Dr. Inglis said he of course wants to try the cpap first and then if that wasn't successful we'd have to explore surgical options.  He said we'd need to meet with sleep medicine for a consult and then down the road we'd come back to him if sleep medicine wasn't successful (hopefully not!). In all this appointment wasn't good. It was all bad news :(

Surgery
We met with general surgery for Mason's G-Tube.  I wanted to make sure we saw them soon after our move so we could get Mason's tube changed out.  It's supposed to be changed every 3 months and we were going on 4 months.  I met with the nurse practitioner in surgery and she said they didn't carry Mason's brand of tube (mini) so she'd show me how to change it by taking his current one out and putting it back in and then once I got home (I have a spare tube a home that I didn't think to bring to the appointment) I could change it myself.  She assured me that it's not hard and I could handle it (I'd been so worried about changing it!).  She took out Mason's tube and couldn't get it back in!!!! She went and grabbed the other brand of tube (mic-key) and taught me how to put that one in. She told me I could keep that one in for 3 months or change it out for the spare tube I had at home once I got home.  I'd be fine keeping that one in but it was a lot higher off his stomach and harder than his normal tube. She sent me home even more worried about changing it because she couldn't even get it in herself! After a few days of Mason using the new tube his stoma was bloody (it hadn't ever been before even after surgery) so I decided I needed to take matters into my own hands and change the tube myself. I did it in less than 3 minutes!!! It was 10x easier than replacing an NG tube.  I was so proud of myself.  Now hopefully I won't ever have to go back to general surgery!

Nutrition
Mason is gaining weight awesome and is staying right on the 50th percentile curve.  The dietitian said he technically should be taking in more than he's getting (he gets 115 ml every 3 hours-should be getting 130 ml every 3 hours) to maintain weight but since he can't move much he isn't burning calories as much as a normal 11 month old child.  So he gets to stay on his current regimen which I'm super happy about because whenever I try to change things he seems to start throwing up his feeds. He gets to change formula once he turns one which I'm also pretty excited about because it will be a ready to feed formula and not one I have to reconstitute like I have to now. It will also be a formula that's has fruits, veggies, and meat in it-sounds disgusting but it's great for him to get as close to a normal diet as possible through his tube.  We don't need to meet with nutrition again in a long while, I'll just stay in contact with the dietitian through email yay!

Neurology
I was super anxious for this appointment because I loved Mason's last neurologist at Cleveland Clinic (Dr. Moosa) and I was worried I would hate our new one. Mason's new neurologist is Dr. Bozarth.  She's a younger Chinese woman and she was very sweet and she seemed extremely smart and helpful. This appointment went really well.  She wanted to get an EEG done to see if the hypsarrythmia is gone.  If it's gone Mason can come off Sabril, if it's still there he has to have his dose increased. Sabril is a kind of scary medication because it can cause permanent peripheral vision loss but it's been the only thing able to treat Mason's seizures. Sabril has other side effects that aren't good like it makes Mason super sleepy. Random people are always mentioning that Mason looks sleepy.  I know they mean well but it annoys me.  Yes he's tired! He's always tired! He has epilepsy! The Drs aren't as worried about vision loss as seizures but they still try to keep Sabril therapy to less than 9 months to minimize the chance of vision loss.

A few days after the neuro appointment we got the EEG.  EEGs aren't fun.  They want your child to be sleeping during them so they tell you keep your child from napping 2-3 hours before the EEG and then a tech takes a while putting the leads on which gets the child wired and upset and then they all the sudden turn off the lights and say your child has 40 minutes to sleep. During the whole testing time the tech is in the room with 2-3 bright computer screens typing loudly.  Then every few minutes the tech comes to push harder on one of the leads on your kid's head because it's signal isn't picking up strong enough...and they expect you to get your child to sleep with all of this going on!  Thankfully Mason is the BEST BABY in the world and just goes with the flow but it still took him about 20 of those 40 minutes to fall asleep.  I'm praying they at least got some info because if not we have to go back! We're supposed to get the results from the EEG back on Monday and that will tell us a lot about what treatment in the next few months will be.

Sleep Medicine
We met with the sweetest sleep medicine nurse practitioner to go over minimally invasive options to try to treat Mason's sleep apnea. She suggested getting another sleep study here in a few months.  In the interim she wants to start Mason on inhaled steroids in hopes that they'll open his airway passages and therefore help him to breathe better.  Mason is sick a lot with upper airway stuff and she thinks the steroids will help to clear a lot of that out.  The plan is to do that for a month and then start reflux meds again.  She thinks reflux meds could help a lot in reducing congestion but she wants to try each separately so we get a better idea of what's actually working. I hate the thought of more meds but I'm all for trying reflux meds again for Mason if it means they could potentially make it so he didn't need surgery on his throat! After the steroid and reflux treatments and another sleep study then we'll try a cpap.  Mason also got a bunch of labs done at this appointment and he didn't even cry at all.  Him not crying made me cry because I'm so heartbroken that he's been through so much that getting blood drawn doesn't even phase him!

Social Work
Something awesome about the neuro clinic at Seattle Children's is that all new families are required to meet with social work which I think is awesome! I need all the help I can get.  The social worker gave us a lot of info on how health care works here in Washington and resources for special needs kids.  Thankfully we have private insurance through Casey's work but private insurance isn't good at covering medical equipment and medical equipment isn't cheap.  My main questions were how in the future do we go about getting medical equipment like wheelchairs etc. We found out that when Mason turns three he becomes eligible to go on a waiver. The waiver will provide some medical equipment for us each year which is such a relief!

So that's the long winded summary of what we've been up to.  Mason got his first hair cut a few days ago and for documentation's sake here's the before and after pic:

We sure love this little bundle of love.  I can't believe he turns one in 2 weeks!

Cortical Visual Impairment and SPTAN1

We finally have some big answers related to Mason's diagnoses. They aren't the answers that we necessarily want to hear but we'll take any answers we can get! First, we've always known that something is wrong with Mason's vision. He's never made eye contact for very long and he won't focus on toys or books. We've taken him to two pediatric ophthalmologists and had an MRI of his brain. The MRI showed everything was completely normal. The ophthalmologists have dilated Mason's eyes and told us everything is normal anatomically and the only explanation they gave us was that he has visual processing issues. Being told that your child has visual processing issues is tough because we know he can see, but we have no idea how much or how well he can see. I'd rather them just say he has very poor eyesight so we can put some glasses on him! There aren't easy or insurance-covered tests that can be performed on children to figure this out what he can process visually. His brain just has difficulties making sense of what he sees due to the brain damage epilepsy has caused. I haven't known at all where to go or how to help Mason see better, until I found the Cleveland Sight Center. Mason's early intervention therapist who comes a few times each month told us about it and our service coordinator sent in a referral. The sight center has various type of therapists and resources to help all ages of people see better! Better yet is that all services are free! A few days ago a visual therapist from the sight center came to our house and after playing with Mason for a few minutes and asking some questions she said that Mason has Cortical Visual Impairment (or CVI). A lot of kids with infantile spasms have CVI, and I've thought for a few months that he has it but didn't know what to do because both ophthalmologists we've seen have been extremely unhelpful. You can go to www.littlebearsees.org to learn more about CVI, but in short Mason's vision is like he's looking through a piece of Swiss cheese... Certain things in his field of vision are clear and easy to focus on, but most of his field of vision is blurry. Because his vision is so patchy he can't make sense of what he sees. Kids with CVI see bright, single-toned toys best-which I have realized most of his toys have complex patterns with multiple colors, ugh! Red and blue are usually the easiest to see and his therapist suggested getting Elmo, Cookie Monster, and Big Bird toys and stuffed animals since they are the easiest for Mason to see. The amazing thing is that vision CAN improve a lot with therapy, but of course it also takes a lot of time.

Also, we finally got to meet with Mason's geneticist (Dr. Moss) to get the results from the blood draw Casey and I had at the end of January. The results showed that Casey and I both don't have the gene (SPTAN1) misspelling that Mason has, which means that Mason's health issues stem from that gene misspelling.  So his diagnosis of infantile spasms is genetic and had nothing do with a birth injury! This is such a relief! If we have more kids their chance of having the same gene misspelling is 1-3%, the same chance as anyone else. This confirms what we already knew: that Mason is really 1 in a billion! I know nothing about genetics but what Dr. Moss explained to us is that because of this misspelling Mason has epilepsy. Infantile Spasms, Mason's specific type of epilepsy, causes the other issues that Mason has such as hypotonia (poor muscle tone), CVI, feeding difficulties etc. All kids with Infantile Spasms have varying degrees of effects from it. Unfortunately Mason has horrible effects from it, BUT his seizures are under control now thanks to amazing medications and he can grow and develop at whatever pace his little body will let him. We'll take whatever we can get and be so excited for any development we get to see.

As for how we're feeling...we take each week and sometimes each day at a time. We always try to stay positive and grateful, but it's not always easy. Although I feel like I've lowered my expectations I still hang on to every ounce of hope I have left that Mason will be able to have some normalcy in his life. Lately it seems like this hope gets taken away from me little by little at every doctor appointment and every therapy visit. Although it is comforting to know that Mason's condition is genetic and not caused by some error on my part or my OB/GYN's part it also means that epilepsy is ingrained in his DNA. His brain will ALWAYS be prone to having seizures, and he will always have to take seizure medications which all have their own horrible side effects. Every time he gets sick or has a fever he'll have a higher chance his seizures will creep back in. All of this has been tough for us especially lately because Mason isn't a baby anymore... My back and neck hurts from carrying him around everywhere. He can't support his head so I have to cradle him like a newborn baby or carry him in his car seat. It's hard to carry a 20 pound baby around like that! His physical and occupational therapists have started recommending buying medical equipment.  I can't wrap my head around buying my child a wheelchair, leg braces, and walkers in the future, it's too hard for me to think about. In a way having him be a baby up until recently has made his physical ailments easy to work around, but now everything has gotten more real. So real that we have to start thinking about things in the future we don't want to think about! We know our sweet little guy has an important purpose here on earth. We love him so very much and are so grateful we get to be his parents. He has already taught us so many important lessons! Good thing he's so cute ;)

8 months old!

This past week we have seen miracles happen for our sweet little Mason. A month ago Mason was still having spasms and his EEG showed no improvement. Dr. Moosa increased Mason's Sabril dosage to the max amount for his weight and age at this point.  Last week Mason had been on the max dosage for 4 weeks and was still having spasms (although they had reduced a lot).  The max dosage of Sabril knocked Mason out.  For 4 weeks straight he slept about 22 hours a day.  He would wake up when it was time to eat and then fall back asleep right when we started feeding him. He even slept through therapy:

He woke up so I started taking pictures. then within 10 seconds he was back asleep. haha.

I kind of think he looks like Chris Soules in this pic. See any resemblance?

Dr. Moosa didn't like that the Sabril made Mason so sleepy so he decreased his dosage last Wednesday a little bit. After a few days of the dosage change Mason smiled and laughed!!!!!!!!!!! He hasn't smiled in 4 long months!  He also started sucking on his hands again and batting at toys.  Although the dosage is lower he hasn't had any spasms either.  This is HUGE progress! We meet with Dr. Moosa on Thursday and he might want to do another EEG to see if it's improved at all. We are so excited for this progress! Go Mason! What's cool is that Casey's parents have been visiting us and they've gotten to see all of these awesome changes in Mason too! 

Mason and Holland kind of have the same look going on. 

Love these sweet kids.

Mason is a little worried...

Happy 8 months sweet boy, we love you so much and we're so excited to see what next month brings! 

Mason's G-tube

Mason finally got a G-tube! I say finally because he originally was supposed to have the surgery the first of November but then he got pneumonia...so we waited until he was all better and rescheduled for the end of November. 10 days before the scheduled surgery he got diagnosed with Infantile Spasms and got hospitalized.  He got put on the ACTH injections and we had to wait until 2 weeks after he was done with the injections to schedule surgery again! So 3 months later he finally got the surgery! We didn't want him to have surgery until he was healthy enough but boy was it a pain to have to keep rescheduling!
We had to be at Cleveland Clinic at 6 am so we had to leave our house at 5:15. My amazing friend Teri came over to our house at 5 so we wouldn't have to wake the girls up early.  She stayed at our house all morning and got the girls all ready for school and drove them around.  Thank you Teri!
I was pretty impressed with how efficiently everything ran when we got to CC at 6 am.  Mason's surgery was scheduled at 7:30 ( he couldn't have anything to eat after midnight) and I was expecting to be sitting around waiting forever like I have had to in the past when I've gotten surgery.  However, after getting all registered and getting our pager we were in pre-op at 6:30! The nurses checked Mason all out and asked questions, then the anesthesia team came in and went over more stuff. I was pretty anxious because a poor child in the room next to us was extremely upset (probably starving) and I was worried Mason would be so hungry he would start crazily crying too but he just slept in Casey's arms while we waited for everyone to come talk to us. At about 7:15 Dr. Seifarth (pediatric surgeon) arrived and went over what the surgery would entail. He said they would perform the surgery through endoscopy.  He would put a camera down Mason's throat and into his tummy to identify where the G-tube should be placed. Then he would make a small incision and place the G-tube. He said in about 5% of kids he cant place the tube through endoscopy so he has to go laproscopic through the belly button.  I handed Mason to an anesthesia resident and they sent Casey and me out to the waiting room. We got our first page at 8:00 saying that surgery started.  Our next page at about 8:30 said Dr. Seifarth couldn't place the tube endoscopically so he had to go through the belly button (of course). At about 9 Dr. Seifarth came out and talked to us. He said everything went well with the surgery but he had to put a lot of air in Mason's stomach (because its so small and never had much food at one time in it) to get it to reach the wall of the belly to be able to put the tube in. He couldn't get it far enough so he had to go through the belly button to see better.  He told us Mason will probably be in a lot of pain from all the air but he should be able to pass it and be fine.  We got to go back to the PACU to see Mason in recovery.  He was already awake and just looking around.  After about an hour in recovery we got transferred to our room where we would stay overnight.

 

 When we saw Mason after surgery he just wanted to stare at Casey and listen to him.  Its was so sweet.

 Mason in the PACU.  He got a few stiches in his belly button, and a few in his tummy to hold the stomach wall against the belly and to hold the g-tube in place.

 Our room ended up being the same exact room that we stayed in for a week when Mason got his NG tube! It was fun to see a lot of the same nurses who helped us 4 months before.
We could start feeding Mason through his G tube at 3 that afternoon, but he could only have 10ml an hour for 4 hours (he normally gets 100ml every 3 hours).  Then 20ml an hour for 4 hours. He handled the 10ml just fine but when the nurse switched him to 20ml he started throwing up. He kept retching even when he didn't have any food in his tummy.  He started to act like he was in a lot of pain so the nurse started giving him morphine which should have calmed him down and made him fall asleep but he just seemed more uncomfortable. At about midnight he started acting really uncomfortable. He was super stiff, his legs were straight out and his feet pointed and his arms straight out and his hands clenched.  He kept moving his head back and forth while he was crying... he did this for about 2 hours.  The nurse paged the hospital pediatrician to come check him out because she thought he might be having seizures. He had no idea what was going on so he ordered an EEG. The EEG techs came at 3 am and put the leads on Mason's head.  After being awake for about 6 hours Mason finally settled down and slept for about 20 minutes then he started doing the same thing ALL NIGHT LONG.

 

  I ended up sleeping through his cries because I was so exhausted.  At 7 am the surgery resident came and checked Mason out and said he looked extremely bloated and he'd send Dr. Seifarth up to see us when he was out of surgery.  Dr. Moosa came in too and said the EEG didn't show any new seizure activity, just his normal spasms and hypsarrhythmia. That was a relief! I had been a crazy mess at 3 am worried that Mason had new seizures and wondering if I made a horrible mistake subjecting him to surgery, I'm glad my worries weren't justified.
That morning Mason kept throwing up.  He still seemed very uncomfortable and it was so sad! I couldn't soothe him because when I held him it seemed to make him more uncomfortable. Later that morning Dr. Seifarth came and said we needed to stop all feeds and vent (leave his g-tube open to let air out) all day. He also said the morphine probably made him more bloated so he could only have tylenol from then on and he had to have gylcerin suppositories and tylenol suppositories every 4 hours to get his bowel going to push all that air out. He also said we couldn't leave that day since Mason wasn't tolerating feeds.  I was fine with that because I didn't want to go home and have Mason get dehydrated and end up having to go back to the hospital.

 

 Thankfully I learned from past hospital stays that snap jammies are a must in the hospital.  He had his IV coming out of his right foot, pulse ox on his left foot, tube coming out of the center and EKG monitor on his chest. Good thing he didn't really feel like moving around too much because he wouldn't be able to!

 

The next morning Mason was doing a lot better and Dr. Seifarth came in and said Mason could start feeds again but we would slowly have to get back to his normal amount.  He wouldn't get back up to his normal amounts until that night so I just decided to stay another night to make sure everything was good (and so I could have more time to have the nurses take care of Mason!).
After a long stay we ended up leaving on Thursday afternoon, and Mason has been doing really well. He's been tolerating his feeds and he seems so much happier without the NG tube, and less gaggy and raspy. I've been loving the G-tube already.  It's so much easier to give meds through, and I don't wake Mason up every time I hook up his feeds.  He hasn't seemed to be in any pain and the g-tube site is healing well.  Overall everything has been great! Now we get to focus on controlling those nasty seizures.

Dr. Seifarth took out Mason's stitches the last day we were at the hospital, but all those red dots were stitches. When Mason needs to eat we just hook up the extension into the button and feed him. When he's not eating we can unhook the extension and close up the button.  The button is really soft silicone and is really low profile so it doesn't stick up much.

Where we're at now

The past few months have been a roller coaster ride. Mason finished the ACTH steroid injections right before Christmas.  The injections were supposed to 1) stop the spasms and 2) clear up the hypsarrhythmia. ACTH is a first line of treatment for Infantile Spasms (IS) and it's effective in treating many children. The steroid injections had horrible side effects but they got rid of Mason's spasms.  However, an EEG showed that Mason still had hypsarrhythmia (hyps for short), so we started to wean him from the steroids and went to plan B.  As we started weaning him from the ACTH his spasms started coming back. The hyps is the horrible part of infantile spasms. Hyps is what keeps Mason from developing mentally and learning new things. The spasms on their own don't cause harm but they are an indication of hyps.

After the EEG still showed hyps we met with Dr. Moosa and talked about Plan B which is the medication Sabril. Sabril is also a first line treatment for IS and is popular because it doesn't come with the annoying side effects that steroid therapy does and it's still very effective in treating IS. However, Sabril does come with a rare but scary side effect: peripheral vision loss. We have to take Mason to monthly ophthalmology appointment while he's on Sabril and I had to sign a paper stating that I couldn't sue the pharm company if Mason goes blind... Dr. Moosa assured me that he's never seen a child lose their vision while taking Sabril but it still scares me. He told me that chance of vision loss is better than IS.

Mason started Sabril right before Christmas. After 3 weeks he got to the therapeutic dose so he got to go in for another EEG.  The 3 weeks he had been on Sabril he was having spasms so I wasn't hopeful at all that the EEG was clear of hyps.  Right after the EEG I met with Dr. Moosa and he gave me the results that the EEG hadn't improved at all, and we had to go with Plan C. Plan C is increasing Sabril to the max dose.  Of course increasing Sabril to the max dose is scary because it increases the chance of vision loss even more, but it still has a good chance at getting rid of hyps.
Dr. Moosa also delivered the bad news that ACTH and Sabril work for most children, but since ACTH didn't work and Sabril hasn't worked yet the chances of other medications being effective are low. We still have hope though, and we won't ever give up until we find something that works. Mason gets another EEG in 3 weeks to see if increasing Sabril has worked. The good news is that since increasing the Sabril dose Mason hasn't had any spasms! I'm always cautious about not getting too excited though because the spasms can still come back at any time, but we're at least hopeful. If Sabril hasn't cleared up the hyps in 3 weeks we're onto Plan D.

I'm actually pretty excited about Plan D.  Plan D is the Ketogenic diet. The ketogenic diet is a high fat, no sugar, no carb diet.  The ketogenic diet makes the body have to use fat for energy instead of sugar which reduces seizure activity. If you want to read more about how it works read this article: (http://www.hopkinschildrens.org/high-fat-diet-can-reduce-of-end-debilitating-seizures.aspx).  It sounds pretty simple but the diet is very strict because any sugar even in medications and fruits etc. can start seizures again.  To start on the diet Mason would have to be hospitalized for a week.  His blood sugar levels have to be checked regularly and a dietitian has to make sure he's receiving enough fat for his body to reach ketosis. The ketogenic diet is proven to treat seizures, and many children on it are able to stop taking other seizure medication because the diet alone is so effective.  How awesome is that!?! The diet isn't as popular as medication because it's so difficult to monitor everything the child eats, and they don't have many options (butter, cream cheese, whipping cream etc). It makes sense that tube fed children are the easiest to put on the diet because there's a formula that they can get through the tube that's ketogenic.
I don't want to have to think a lot about Plans E, F, G or H yet but I have a little bit. I'll leave that for another post.

We got a fun surprise while we were in the hospital last week, Dr. Moss (geneticist) came and saw us and gave us the results of the epilepsy panel that Mason got drawn just before Christmas. We weren't planning on seeing him until the end of March, but his wife was Mason's hospital pediatrician and she told him to come see us.  In short the results were that a misspelling of a gene came up and 2 other kids with that same misspelling have IS. Casey and I got out blood drawn while we were at the hospital so we can be tested and see if we have the same misspelling.  If we do, the gene isn't important because Casey and I don't have epilepsy. If we don't have that misspelling then Dr. Moss will delve deeper. The hope is that this gene can give us answers on what treatments could be effective. On the other hand, there is still the chance that Mason suffered brain damage at birth from lack of oxygen, but that's another post too.

Dropping an NG tube (like it's hot)

In case anyone is dying to know how to put in an NG tube, Casey recorded me putting in Mason's tube a few days ago to hopefully be able to help someone and because this is hopefully THE LAST TIME (YAY!!!) I'll have to put it in. Sorry in advance for our coughs, my raspy voice and lack of makeup...