Tuesday, August 23, 2016

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!


Ann said...

Thank you Lindsey for this beautifully written post about Mason. He is so loved by many and I know I am always praying for you all and wondering how it's going and since I sadly can't see you enough (I wish I could each week) I really appreciate the update so my prayers can be more specific. Love you and am hoping to see you someday soon! ❤️

Courtney said...

I am inspired by your example of gratitude for the tiniest progress. He has great cheerleaders!