The Super Rory

One of the interesting aspects about Bohring-Opitz syndrome is that it is multiple-anomaly meaning there are multiple congenital abnormalities in the same person.

Sometimes my heart hurts for Rory when I think about that and subsequently all of the challenges that he has to face.

However, I like to remember that he is not alone. While Bohring-Opitz may be rare and all of the children may present differently, there are similarities to other conditions, and as a result there are others who have faced similar issues.

Because of that, I am able to gather ideas and connect with parents who are raising and finding solutions for their special babies.

So, if you’re like me, remember that there is a community, there are others…remember that you are not alone.

Earlier this month was Tube Feeding Awareness week. I wrote a piece on the feeding struggles that Rory, those with Bohring Opitz and similar conditions go through. Click the link in my bio to read more.

In this post I'm highlighting all of the different tools that we've come across to help kids with feeding. 💜💚

A day in the life of and mommy. I know it’s a strange thing to find solace in, but I love wearing the same (or similar) shoes to Ro. It’s probably because he’s really cool. 💜 💚

and I had an amazing time today at the 37th Annual Education Conference. If your kiddie is special needs and you live in Georgia, I highly advise you tap into this network. 💜 💚

Happy 2nd Birthday to ! 👦🏽 💜 💚

We didn't post in October because Rory was out having too much fun. In October, Rory got to head to Memphis and Los Angeles thanks to some amazing people.

While traveling with a medical/special needs toddler can be stressful, we were still able to have a lot of fun with our friends and loved ones.

Where should we go next?

We are grateful to ASXL Rare Research Endowment (ARRE) for featuring Rory in their 2022 impact report.

ASXL Rare Research Endowment (ARRE) foundation is the organization that focuses on supporting research and raising awareness for rare genetic disorders caused by mutations in the ASXL genes, such as:

- ASXL1/Bohring-Opitz Syndrome (BOS)
- ASXL2/Shashi-Pena Syndrome (SPS)
- ASXL3/Bainbridge-Ropers Syndrome (BRS).

According to their report, President Biden signed a $1.7 trillion government spending bill with a provision that recognizes the three ASXL-related disorders in December. The language in the bill encourages the National Institutes of Health to "expand funding for basic, clinical, and translational research" into these syndromes.

Click on this link to read more about the ARRE 2022 annual report https://www.arrefoundation.org/annual-report

Rory makes one of the [almost] perfect activity buddies. If he’s interested he keenly watches and if he’s not, he falls asleep. This activity? Hanging out at a local library. 😂

This week we’ve sent out our August newsletter to our supporters who continue to ride on this journey with Rory and me. It means a lot.

This month, we talked about embracing balance and finding joy in simplicity. We’re making a commitment to creating joy and relishing in the good times. 🌸

We’re reaching out to our community with two requests that can impact lives:

1. Seeking Pediasure 1.5 Resources:
Rory’s specific dietary needs have posed challenges in accessing proper nutrition. If you know of resources for Pediasure 1.5, a nutritional supplement, please share. Your insights could help other families too.

2. Donations for Families in Need:
Our hearts go out to mothers and children facing difficulties, especially disabilities. If you’re aware of shelters or initiatives supporting these families, kindly share. As Rory continues to grow, there are quite a few items that we know could bring positivity to their lives.

Thank you for being a shining light in our journey. 💜 Super Rory

Diving into old IG stories and came across a blast from the past that made me reflect on my journey with preparedness!

From color-coded schedules to emergency kits, I had become obsessed with planning ahead. But life had its own plans, especially with Rory’s son's disability. It taught me the value of being present.

His unique journey showed me that while it's important to be prepared, it's equally vital to find the balance between readiness and being in the moment.

Now, I'm on a new path, navigating life's twists and turns with a fresh perspective.

Anyone else out there who's discovered the beauty of this balance? Share your stories of finding harmony in preparedness and presence!

Rory is all splinted up this summer, and we couldn’t be prouder of his strength and resilience.

These amazing devices are essential tools that support him on his unique journey! Swipe to see him wearing his splints, braces, and his trusty Benik vest. ​➡

We wanted to take a moment to shed light on the importance of these devices for children with physical disabilities. Splints, braces, and the Benik vest aren’t just accessories; they serve a vital purpose in enhancing mobility, providing support, and preventing complications.

These custom-made splints and braces are tailored to meet Rory’s specific needs, helping him with daily activities and ensuring he can actively participate in therapy. They play an essential role in promoting better posture, reducing discomfort, and supporting his overall well-being.

As we continue this journey with Rory, we hope to raise awareness about the significance of assistive devices for children with physical disabilities. Our mission is to create a world where every child has access to the tools they need to embrace life’s adventures, no matter the challenges they may face. Let’s celebrate the strength of these incredible kids and the impact of these life-changing devices. 💜💚

Rory, at 16 months people think you’re only 5 months old. You don’t really smile but you love a good smirk and eye roll. You know your mom is unconventional and you’ve just become okay with petting Sasha. Happy 16 months Ro 💜 💚

We’ve mentioned before how we had a difficult time getting Rory’s supplies. Vitality Medical was the site that I turned to in order to order Rory’s feeding bags. If you have the budget capacity to order backup stock for your kiddies, check out their site. They’re currently offering a 5% off discount code.

I’m extremely appreciative of all of you who support .

Since the start of our campaign, we’ve received our first donation which will be used to continue to search for resources for Bohring-Opitz families.

P.S. here are a few photos of Rory being happy. 💚💜

In less than a month will be Rory’s 1-year diagnosis anniversary. If there was anything that I never believed would happen, it would be grieving the life that I wanted for Rory.

There are days where I’m extremely hopeful juxtaposed by days where I’m not even sure how we made it through. is a disorder with such extreme variations — in the one year that we’ve been aware of Rory’s diagnosis, we’ve come across people with the condition who have made it their 30s, while there are babies no more than 1-2 years older than Rory passing away.

We’ve attended more doctor appointments, seen more specialists and have been on more calls than I’ve ever been on at any other point in my life.

I doubt that the anger and guilt will subside but I am growing more and more accepting every day. There is a community that has grown around those living with and caring for those with this syndrome. Support groups, research studies, doctors, specialists, family and friends who contribute in both small and big ways to creating the best for BOS babies.

Anyway, April 6th is Bohring Opitz day and to continue to meet this disorder head on, and to continue helping us support those doing the work behind the scenes, please continue to support The Super Rory by liking, commenting, sharing and more.

from the Bohring-Opitz Syndrome support group

“From Dr. Russell:

Dear BOS Families,

Thanks to a generous grant from the RTW Charitable Foundation (Foundation - RTW Funds Investments), we have launched a research study looking at the neurologic function and brain wave activity (EEGs) in children with Bohring-Opitz Syndrome! The study is approved by UCLA but all study activities will be done electronically and in your home.

Your child may be eligible for this study if:
They have a mutation in ASXL1 causing Bohring-Opitz Syndrome.
They are under the age of 18.
They live in the continental United States.
They do not have a second genetic condition or history of brain injury.
They are enrolled in the ASXL-Related Disorders Registry at UCLA.

Please note, enrollment is limited and despite our best efforts, we may not be able to offer in-home EEG studies in all locations.

Please see attached flyer for more information about the study and contact us at [email protected] to inquire and enroll.”

The email for participation/questions is linked in the bio.

Rory and children like him are marked as “Failure to Thrive” because they aren’t able “feed normally.”

This is usually marked by a poor latch to the breast and subsequently any other feeding tool such as the bottle.

Also, children with the ASXL1 disorder, have laryngomalacia. Laryngomalacia is “a condition that results from a birth defect in your child’s voice box (larynx).” The soft tissues of the larynx fall over the airway opening and partially block it making it hard to feed without choking and coughing. This also makes it hard for these babies to feed independently.

Kiddies with also seem to have an issue with taking in and digesting as they tend to throw up and get irritable tummies after feeding.

There are few methods to meet a child where they’re at though, with special formulas, feeding therapies, nutritional guidance and tube feedings to get a child up to a good weight.

Has anyone you’ve known ever been labeled as “Failure to Thrive”? If yes, what was their journey?

When a child is born with a rare syndrome like Bohring-Opitz, they may initially be diagnosed with the separate/different conditions that are a part of Bohring-Opitz.

Although this condition presents itself differently in each person that receives a diagnosis, if you and your physicians start to realize that your kiddie has a lot of other medical conditions arising, ask for a genetics test in order to come to a solid diagnosis on which syndrome they may have.

After getting Rory’s diagnosis for , I had to contend with my own internalized Ableism.

Although I believed I didn’t have a bias towards those who are disabled, I realized that not having a hateful attitude towards those that aren’t able bodied or are neurodivergent is simply not enough. I didn’t take into account how difficult it could be for those who needed extra help in certain areas of their lives regardless of how their disability presented.

Now that I have a child that is medical/special needs, I realize that “disability” is only a problem because our society doesn’t make room for those that are different.

Through my son’s care, I’ve had to check myself on whether or not I was fighting for my son to be “normal” or if I was fighting for the what was best for him. To make room for Rory’s disability, meant I had to grieve the loss of a life I WANTED for him and fully accept that I would never know what was to come, but to fight for my son’s joy and equity everyday.

We’ve created a small tradition of celebrating Ro’s monthly birthdays on Twitter but thought this one was too good to pass up. It’s a bit delayed but someone turned 11 months yesterday. In less than a week my Rory got his first haircut aaanndd got on his first plane ride for his first business trip. ✈️

abnormalities and how they present in and other syndromes. 💜

Don’t worry! This isn’t a baby cast. It’s actually a corrective arm splint. We’ve had an influx in appointments recently, 1 in particular to get Rory fitted for his arm splints which will help correct the way he naturally wants to hold his arms close to his body.

What is another way to tell a baby or child has syndrome?

The colored patch on their forehead.

These are caused by an issue with capillaries, which are very small blood vessels.

Check out Rory’s pictures to see where his is.

This particular formation on the skin can show signs of a congenital disorder and isn't only seen on babies with Bohring-Opitz.