Special Needs Spotlight || Colton

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. Miggy: What are the biggest worries you have for Colton? On the flip side, what are your hopes and dreams for him?

Erin: I think my biggest fear for Colton is that he won’t be accepted, that he won’t have real friends. We’ve come a long way in acceptance of people with disabilities but we have a long way to go. I worry about him being left out, made fun of and even harmed by cruel people.  On the converse, I hope he finds one or two true friends, that he is accepted by his peers and that they love him for who is. I also hope that he has some level of independence someday. I really worry about him as an adult, especially when we are gone and not able to care for him.  I hope someday he can somehow live somewhat independently and have a meaningful and happy life.

Miggy: Now for a lighter question, I’m a big believer in seeing the humor in life and learning to laugh, so have you ever had any funny conversations/moments you never imagined due to your special needs situations?

Erin: I love this question. We often joke about this just with general parenting but there are definitely some humorous moments related specifically to raising Colton. Recently Colton has been working on pulling his pants and pull-up up and down as we are starting to work on potty training. He is much better at pulling everything down than up. Often times he’ll pull down or remove his pants when we are at home and while many little boys do this, most 5 year-old boys can put their pants back on or pull them up or at least have a general understanding that it’s not appropriate to run around without pants. Not Colton. A few weeks ago I was cooking dinner and trying to supervise Colton. He had his pants off but no one else was around so I wasn’t too worried about it. However, we do have a glass screen door and some solicitors rang the door-bell. Colton wanted to see who as at the door so he squished himself up against the glass – totally pantless. I was cracking up but the solicitors seemed unphased. I told them it wasn’t really the best time and they asked when it might be a good time to come back. I told them maybe in about 10 years. I found myself saying “Colton we don’t squish our private parts up against the glass door.”

Miggy: How can people best approach or respond to Colton? Is there something you wish other people knew so as to avoid awkward or hurtful situations?

Erin: Colton loves everyone. He has no idea that he’s different. I think people can best approach or respond to him just like any other kid. He may not have many words but if you say hello and give him a chance he will wave or blow you a kiss. I guess you really just need to give him a bit more time to respond because his processing time is a little slow. He also uses his hearing a lot because of his low vision. He likes to hear your voice and really listen and think about who is talking to him and what they are saying. I wish people knew that we just want to be included, that we will decide if it’s something we can take part in or not. We are realistic, but also creative. Having Colton makes our life harder and sometimes we can’t do all the things we wish we could, but we want our lives and his life to be a typical as possible and we want to chance to try to be a part of things every other family is able to do. The friends who include Colton and treat him like just one of the kids with a few small tweaks are so valuable and appreciated.

Miggy: Are there some ideas you had about having a child with special needs that have since changed now that you actually have a child with a disability?

Erin: Well, as I mentioned earlier, having a child with special needs was my biggest fear before we had Colton. Now I know that there are many blessings that come from having him. It’s not easy, but it’s really incredibly beautiful. I see the way his life affects so many people around him and I’m so grateful for that. I also thought it was so rare to have a child with a disability but now I’ve met so very many moms and families with a child or children with disabilities and I know that it’s not so rare and it’s really powerful to know we are not alone and that we are amongst some pretty incredible and inspirational people.
Miggy: Lastly, what is the biggest lesson you’ve learned since becoming Colton’s mom?

Erin: Gosh, that’s hard. I’ve learned SO MANY things, a lot of which I’ve already mentioned. I guess one of the biggest lessons I’ve learned on a really personal level is that I can do this. I remember thinking “I could never do that.” I’ve heard it myself from so many people. The thing is you can. I can. You don’t have a choice if your child has a disability or many… they need you and you will do it. Just like you would for any of your children. Sometimes it’s just one foot in front of the other and sometimes it does feel incredibly overwhelming and impossible but you just take it one day at a time and every now and again you look back to how far your kiddo has come, how far you’ve come and you realize you’ve made it this far and you will continue to blaze a path with your child that may not look like what you expected but day by day you move forward.

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Erin thank you, that was wonderful. First, thank you for freely sharing your feelings regarding Colton and his diagnosis. As you said, there are some special needs mama’s who wouldn’t change a thing about their kid but you’re not one of those mama’s. I’m really glad you said that as it’s important to recgnize that not all special needs situations are created equally and regardless of the specific conditions, individuals can vary in their feelings as well! AND you can still grieve his diagnosis and love your son fiercely. The combinations of emotions and thoughts in regards to parenting a child with special needs is endless and can look a little different depending on the day. THERE IS NO ONE RIGHT WAY. Thank you for sharing this. Also, thank you for sharing with us the following sentance, “Colton we don’t squish our private parts up against the glass door.” Haha! Come back in 10 years! Best response ever. You’re a wonderful mom Erin and thank you so much for sharing your family and especially your sweet Colton with us today. 

As always if you or someone you know would like to participate in the special needs spotlight please email me at thislittlemiggy at gmail dot com. 

Have a fantastic weekend!
XO, 
Miggy