Thank you for being here to read about Owen’s Story. With a little help from you, I know that we will be able to make a difference in the world. It may not be within the time that we need in Owen’s life, but everything takes time. And we, as a family living with a rare disease in our home, are never giving up hope.
Below is a little peek into Owen’s Story. Our ‘family blog’ located in the navigation bar at the top of this website as well as the ‘educate + advocate’ page, will be two places where you can keep up to date with Owen and also become more knowledgeable about this disease and what to expect through his lifetime. If you have some time in your days, please take some time to read more about it and join along in our village of support. It does ‘take a village,’ after all, and we are so appreciative of every single one of you who mentions Owen’s Story to another friend, to not only help support him, but for all of these other children who need the love as well.
After six years of his life searching for a diagnosis, we are here. About a month before his 8th birthday. We got the phone call on Wednesday May 2, 2018 at 9:40am.
“It’s confirmed. We’ve received a positive result and there is no need for any further testing to be done. This is your final diagnosis.”
Those words, ‘This is your final diagnosis.’ Final. Diagnosis. Those are the words I’ve been waiting to hear for six whole years. My heart sank while an entire load of weight lifted off of my shoulders. I felt like I was flying. But only for a moment...
Owen was a healthy babe at birth, weighing 7 pounds, 2 ounces and was 19.5 inches long. He was born via c-section and we didn’t have any complications. He met all of his milestones as a baby and we soaked in every little coo and smile that he gave. He started sitting up at 6 months old and sat on that chunky bottom until 13 months until he decided he was ready to crawl for a week and then take off walking. It was around that time when we started noticing some changes. He said some basic words around one year old, ‘mama, dada, nana, book, duck...’ but then he just stopped all together around 18 months for about a 9 month period. He started to moan or grunt and point to things that he wanted, he would get frustrated a little quicker, it didn’t seem as easy for him to communicate but he still showed expression and enthusiasm. He started chatting again a little over 2 years old and it almost felt like he picked up where he left off. Life was good and happy and it was like nothing had ever happened. Something to me, however, just didn’t feel ‘right.’ I’ve been around children my whole life and I knew right then it was time for me to look into things.
We started early childhood intervention with speech and occupational therapy from ages of 2-3, which helped him tremendously in so many ways! He went to preschool for an extra year before heading off to Kindergarten as our big boy, with an IEP we created for him to be able to have a secure and safe future based on the extra help he was receiving with speech and occupational therapy at the time. Since then, we’ve been in and out of numerous hospitals hearing one answer, and then ruling it out and replacing it with another time after time. I felt like it was a joke. He couldn’t even go to one hospital for testing because he was ‘too old.’ Doctors kept telling me to ‘keep allowing him to develop and grow at his own pace’ and in my head, I knew that ‘he was getting too old now, he’s passed this milestone and this stage, doing that would only get him further behind...’ So, I became our own case worker. Needless to say, I’m completely exhausted.
I made all the phone calls, set up all the meetings, ordered more labs and attended conferences and did more research. As he grew, he showed more strong autistic characteristics. He lined up his toys, he flapped his arms, he had sudden meltdowns, he was repetitive, he showed signs of sensory issues, he obsessed over specific things daily, we started visual lists to get us through the day, ‘and then what?’ And so so many more... The autism spectrum is so broad and it was something I wanted to look deeper into.
A friend of mine knew that I’ve been working so hard to find out some answers and referred us to a different city, more recently, in hopes to help us work toward getting an official diagnosis. Again, we had months of travels and testing and labs and ultrasounds. They ruled out Autism. Again. Because he can communicate and passed all of the ‘tests.’
Because my son can SPEAK? That wasn’t good enough for me. I walked out of there feeling so frustrated. I thought we were finally there, I really did. I had such good vibes and feelings during the whole process, but walked out with, what felt like, nothing. He had a team of people there that worked with him on coming up with a diagnosis. A speech pathologist, occupational therapist, psychologist, pediatrician, I just knew there had to be more. Something. The pediatrician had been the best one we’ve had by our side since he was born and I knew I needed to stay by him. He’s the one who thought of questions and ordered tests that no one had mentioned to me before. I remember feeling I was just so excited. He scheduled lab work that showed he had higher liver enzymes, so we had an ultrasound to check and make sure his liver was okay. It looked normal. He ordered an MRI to check out his brain (I’ve been wanting this so bad since he was younger) which then came back abnormal. That’s when he sent us to a specialist out of town to get a sleep study ordered and to meet with a neurologist. For the first time in my life as a mom, I felt like we were truly going to be getting our answers through all of this.
So here we were, another hospital, another doctor. And as much as I was dreading it, I knew I was never going to give up. We sat and chatted about family history (for the 1000th time), they measured him, the neurologist gave him a short checkup, we talked about what we’ve been through and what we’ve noticed and how he’s growing. He kept glancing at him, noticing his characteristics and finally asked, “...they really did rule out Autism?” Yes. They did. He was willing to look a little deeper and help. We started talking about the sleep study that was ordered, how he is so restless in his sleep and how I witnessed his one and only seizure a few weeks prior around his bedtime. He immediately ordered up for an EEG and we had that scheduled as soon as possible.
After the EEG was over, the tech said to me, “...if doctor thinks it’s emergent to call you, then he will call you today or tomorrow. Otherwise, he will give you a call in 3-4 days.” Umm. ‘If doctor thinks that it’s emergent?!’ I took that as a sign...
The nurse called me the very next day. She said they suspected epilepsy and we needed to start him on some medication to help stabilize them right away. I was sort of expecting it, but there is just something about you actually hearing it that hits you like a bag of bricks in the face. When we met with the neurologist next, he said that he was suspecting a certain diagnosis and gave us papers to go home with. With all of the appointments, we had had before this, I didn’t want to read anything else until I knew there was a final answer. It’s just exhausting to try and keep up otherwise. He ended up having a reaction to the first meds and is now on the second one we’ve chosen for the seizures. We did genetic testing that same day to narrow down the answer. His dad and myself gave blood and Owen did his own set of labs along with a urine sample. We still kept up with the mentality of ‘Let’s do this.’
We got the phone call exactly one week later. “It’s confirmed. We’ve received a positive result and there is no need for any further testing to be done. This is your final diagnosis.” He explained things a little more and then said, “Have you read the papers that I gave you? If you have not, please take time to read them and you may call me back whenever you need with any other questions that you have. Normally it’s a 6 month wait, but I’ve talked to the Genetics doctor and he is able to get you in tomorrow if you can make it back up here to meet with him.”
We hadn’t read the papers...
I remember feeling so HAPPY and EXCITED that we had the ANSWER! My husband grabbed the stack of papers and read the first page and says to me, “NO. You’re not going to want to read this.” I read it and immediately curled up in a bawl and didn’t move. My husband called all of our family to meet that same night so we could talk to them. ‘This can’t be happening, this can’t be happening, WHY is this happening? I’ve worked my entire life as a mama finding this answer, this CAN’T be it!!’
On Wednesday May 2, 2018 we found out that our boy has Sanfilippo Syndrome: MPS IIIA. It’s a very rare, genetic childhood disease that is terminal.
As of right now, there is no cure or treatment for this disease or any trials available at this time. He was born without a vital enzyme that breaks down complex carbohydrates in the cells. Over time, the waste product will build up and cause brain damage. Without a treatment or cure, children lose their ability to walk, talk and feed themselves. They often lose their hearing and have seizures. The typical life expectancy is between 10 and 20 years of age. We are absolutely devastated and completely heartbroken. He won’t be leaving us tomorrow, but with this disease, it is hard to gauge on how quickly things will start to regress. Owen is a happy, extremely loving and caring soul. He does not realize that he is different from his peers. He loves swimming and soon we will start some therapeutic horseback riding. He receives Special Education at school, speech, OT and a life skills therapy. He has difficulty with developing and understanding learning skills and speech. As of right now, he continues to be able to walk, although he gets tired quickly due to his lower muscle tone, and can still talk and feed himself. He is living through it every day, although he doesn’t understand anything that is going on and I’m thankful SO much for the innocence in his heart for that. All we are asking is to pray for him to happily get through each day the best that he can. We know that his brain damage is slowly always occurring and are, and always have been, blessed to have him and want our sweet boy to live life with us to its fullest.
We plan to use Owen’s Story page on Facebook as well as our family blog here to keep our family and friends updated on Owen’s progress and accomplishments. We have several fundraising events in the future that we are planning out and will be updating you on those also, as we hope to see so many of you there with us!
Thank you so much for being here with us and to those of you who have helped Owen become successful so far in all aspects of his life. We can’t wait to share all kinds of his memories and updates with you here by our side. xx
If you’d like to donate directly to Owen’s Story, you can click here.
Please navigate to the other pages if you’d like to learn more on Sanfilippo Syndrome.