Hi everyone, this is Colton, who just turned 5 years old in March. Colton is mischievous, loving, happy and happens to face quite a few extra challenges. We only recently learned that all of his symptoms were caused by an ultra rare genetic syndrome known as Bosch Boonstra Schaaf Optic Atrophy Syndrome. We entered a research study for Infantile Spasms when Colton was about a year old and in January we finally got a call. The crazy thing is that one of the doctors who helped discover and identify this syndrome happened to be in Houston for one week at the exact same time we got the call about the diagnosis. Dr. Christian Schaaf lives and works in Germany but lived and worked in Houston for many years and was here for meetings, etc and we were able to see him which was pretty incredible. Colton has two big sisters, Ella and Addy who are 10 and 9. Colton’s Dad is an assistant dean and entomologist at CSU and he is Colton’s favorite person! My name is Erin and I am a registered nurse and Colton’s parent CNA and organizer of ALL THE THINGS including 8 therapies a week, preschool drop off and pick up, IEP’S, etc. Life is crazy busy but also very rich and rewarding in our family!
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Miggy: Welcome Erin, I’m so happy to feature your family and particularly your son Colton on the blog today! Can you take me back to the day you knew you found out Colton would have special needs? Do you remember how you felt? Can you compare those first thoughts and feelings with how you feel now?
Erin: Thank you so much for sharing our story! There wasn’t really one particular moment in time that we knew Colton would have special needs but I do remember that when he was about 2 months old I started to get really worried because he wasn’t meeting his milestones. I remember being on the floor with him trying to do “tummy time” and he couldn’t lift his head up and I just had this sick feeling in my stomach. I was texting with a friend and I remember that I told her that I just knew something wasn’t right. The pediatrician wasn’t concerned just yet, but I was.
At his 4-month appointment she was concerned too and I remember sobbing in the exam room. She assured me it could just be a little delay and he might be just fine after some intervention, but I knew better. Somehow deep in my soul I knew there was something big going on. I remember thinking at that time that my biggest fear was coming to life before my eyes. I had always thought that I could handle a child with medical issues, being an RN, but my biggest fear was having a child with developmental and/or intellectual disabilities. I don’t know particularly WHY I was so afraid but I think it was because my experience with children or anyone with intellectual or developmental delays was so limited, as is the case for most people until they are smack dab in the middle of the special needs world. As more and more issues came up with Colton including a particularly grim diagnosis of Infantile Spasms I went into a deep dark hole. I did everything I needed to do for him, but there was no joy or enjoyment of his baby days. I regret that now, but it was literally all I could do to just put one foot in front of another and start putting everything in place that he needed and take care of my other children and work and have a marriage.
I’ve come a long way since then. I find joy in the little boy that I have, instead of only grieving that one I thought I would have. I celebrate every little thing he accomplishes and I advocate and fight for him to be the very best he can be. Now, I won’t lie and say I don’t feel sad sometimes, or grieve the things he won’t or can’t do. I know some special needs moms who say they wouldn’t change their child, I’m not one of those moms. I would love to see him not struggle for every little inch stone. I’d love to see him play soccer with all the little boys on the street. I’d love to not spend hours and hours a week taking him to therapy instead of to play dates, or sports or any of the things typical kids are doing. However, I’m learning to find the joy and the blessings that come with raising him. I’ve met incredible people I would have never known otherwise, other special needs moms, doctors, providers. I’m helping other moms navigate the “system” and that brings me incredible joy and satisfaction. So, I’d say I’ve come a long way but I’ve got a ways to go and I really don’t know how my thoughts and feelings will change and evolve but I do know I love him fiercely and I know that he is in our lives for a reason and I see more and more how he has changed our lives and so many lives all around him.
Miggy: Your son Colton has a very rare genetic disorder called, Bosch Boonstra Schaaf Optic Atrophy Syndrome or BBSOAS. Could you please educate us about this syndrome and explain how it is manifest in Colton and how his needs affect your day-to-day life?
Erin: BBSOAS is a mutation or deletion of the NR2F1 gene located on the 5th Chromosome. There are only about 110 people in the world with a confirmed diagnosis, although there are probably more out there who have not been identified. The is a spectrum of impact even within the small affected population. Common characteristics are optic atrophy (or optic nerve hypoplasia), developmental delay/intellectual disability. Many PSOAS individuals also experience infantile spasms and/or other forms of epilepsy. Many have CVI (cortical visual impairment) and Autism is also a comorbid diagnosis for many. Other interesting commonalities include a high pain tolerance, a strong love of music and a lack of tears. Colton has most of these, other than an Autism diagnosis.
The myriad of symptoms/diagnoses affect our everyday lives in many ways. Colton is considered to be legally blind and as such we have had to make many adjustments in our home as well as places he commonly goes, such as school. Visual clutter must be minimized, he needs visual cues such as a bright yellow edge painted or taped on a step so he can see the edge. He also has found ways to adapt, such as scooching on his bottom and feeling with his toes to determine how far a ledge drops off. He does wear glasses that he loves to toss out the minivan door as it slides closed. A pair or two have met their death, and I joke that I spend 80% or my day worried about where his glasses are. Colton’s seizures have been under control for a few years but we live with the constant worry just under the surface that today could be the day they return. Colton is quite delayed and requires much more care than a typical child his age. I quit a full time job to be his primary caregiver. Thankfully in Colorado I am able to be paid to be his CAN which has been a lifesaver for us. I do work outside the home a bit as a registered nurse and I’m thankful for a chance to use my brain and education in a different way and connect with adults who are not Colton’s providers! We also have two older typical kids and it is difficult to bring Colton to gym meets and soccer matches because he does not sit still and has an incredibly short attention span. We often have to get someone to care for him so we can attend their events. This adds quite a lot of expense to everything they do. We also can’t take him to a movie or things like that which is sometimes hard because we’d love to do some things as a whole family that we just can’t do with him.
[readmore title= “Click here to keep reading about Colton… you won’t want to miss the funny pantless story!”]
This sounds like a great birthday party! And love, love, love the idea of giving kids a pocket constitution. I hope this doesn’t sound too treacly, but Lamp is a gift for all of us. I’ve certainly had my eyes opened to the world of limb differences. A few months ago my son was playing in a soccer tournament where one of the side officials was a young man with limb differences. My 10 year old daughter later commented that she felt so bad for him, how sad. It was a good opportunity for me to have a discussion with her. I pointed out that he was very clearly doing just fine, nothing to feel bad about. He was out there doing just what the side judge is supposed to do, with his flag indicating if the ball had gone out, who had possession, etc. And I’m sure when he’s not on the field he’s a student, and on weekends is running around with his friends having fun. The same was as she does.
My son obviously didn’t notice any differences, he complained about this official, as he did (and does) ALL the officials, not knowing what they’re doing. 😉
This is a pure gem. She is a gift of pure joy – love this sentence. Its always inspiring and entertaining to read your articles. Waiting for your next post of 2020.
What is your Instagram? I have tried to find you there! (@thislittlemiggy does not seem to work…or the link in your sidebar?)