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 ;)
