Friday, March 18, 2016

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 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 ;)


Jan the Woman said...

Thanks for posting! While Jane's problems aren't as severe as your little one's I understand every ounce of the realities you are going through. We have just started to realize that Jane is never going to "get better". Jane his 21 months and has a speech and overall communication understanding of 11 months. I always said life would be easier when she would be able to talk and now we're not sure she ever will talk!

And you understand the stress of all the doctor's appointments plus having other kids to focus on. I'm so sorry you are going through this but know that you are not alone!

You probably already do this but one thing we didn't after Jane's 5th major seizure was this: we put together a little carrying case with her diazapam meds, tylenol, ibuprofen, syringes and thermometers that we take everywhere with us. I have given her tylenol in the middle of church when she had a fever. It's nice to have it all handy. I wish we would've done it sooner! You guys are in our prayers. Call if you need anything!

Yours, Mine, &, Crazy Daisy said...

Lindsey, you are an amazing mama! Your little Mason has been through so much but is doing so well thanks to you, his loving advocate! We continue to pray for strength for you all. We love your family and look forward to meeting Mason! ♡

Rachel said...

I love you, Lindsey. I'm rooting for Mason and keep your family in my thoughts and prayers.

Lindsey said...

Thank you so much! That is a great idea to take a little pack with "first aid" type stuff in it! Knowing that were not alone in this is such a blessing!

Stacey said...

We think of your family often and we are praying for little Mason.