Type: Featured

Brinley

October 3rd, 2018 started off like most days for our little family of three (Kelly & Todd, and big sister Jayla) as we eagerly awaited the arrival of our twin babies in a couple months. We had no idea a huge surprise was in store for us. By the end of a chaotic day we were welcoming Brinley and her twin brother, Wesley, into the world. They were delivered premature at 32 weeks, 6 days which was completely unexpected and a bit frightening. Luckily, Brinley & Wesley were doing just fine after delivery and we began mentally preparing for an extended stay in the NICU until they both passed key developmental milestones. We were so excited about our newest little additions to our family but we also knew the road ahead in the NICU would be tough. In reality, we hadn’t the slightest idea of the challenges to come.

The extended NICU stay probably wound up being a bit of a blessing in disguise since we had help from an amazing staff of NICU nurses. Brinley had feeding issues due to suck/ swallow struggles from day one, which wasn’t completely unexpected, but she showed very little improvement over the coming days and weeks while her twin brother excelled. While feeding Brinley wasn’t a fast or easy process, she would eventually finish her bottles (or at least most of them) with the guidance and support of the NICU nurses. Wesley never had feeding issues and he continued to thrive so he was able to come home from the NICU after a little more than two weeks. Brinley’s stay wound up being longer due to her struggles so she came home just in time for Halloween at exactly four weeks old.

We were relieved to finally have our family home but things only got harder and harder for us. Brinley continued to have significant challenges eating as she would often choke and cry while attempting to drink her bottle. We saw a GI Doctor early on who confirmed Brinley was struggling with suck/swallow coordination which was often causing her to aspirate. At the recommendation of the GI doctor we started meticulously tracking her calorie intake to ensure she was eating enough. We added extra calories to her bottles by mixing in oatmeal cereal and doubling up on formula powder.  We also added powder thickener to help prevent aspiration. It took a ton of effort but we were able to keep her on a decent growth track while her ability to take her bottle showed some improvement.

During these first challenging weeks at home Kelly had the first inklings, the mother’s intuition so many of the Ogden Moms mention, that something was wrong with our sweet little Brinley. I wouldn’t admit it at the time but I also noticed a lack of eye contact and tracking of objects which concerned me. We hoped and prayed she just needed more time than usual because she was a premie. The most pressing matter was just ensuring both of our babies were eating, sleeping and growing which is no easy task with twins. We were in survival mode.

At about three months old, we introduced Brinley to eating purees by adding formula to mashed avocados and soft boiled eggs to help increase her calorie intake while at the same time reducing her reliance on bottles which she still struggled to drink. She immediately loved food and we quickly realized her eating improved when the consistency was thicker. Eating soft solids became a complete game changer as she quickly began to gain weight. To this day, she’s the best eater of our three children. Meal time is messy and she’s still learning to use utensils but she loves pretty much any type of food.

As the first few months continued to pass by, Brinley was clearly missing developmental milestones while Wesley went from one to the next. At about four months old, Brinley started physical therapy because her limbs were unusually stiff. It was to the point where she could barely reach out in front of her and she constantly kept her hands in tight fists. We later discovered this was due to hypertonia in her muscles. For months we sought out specialist after specialist in an attempt to figure out the cause of her struggles but we didn’t really get solid answers beyond the generic “developmental delays due to premature birth” explanation. We almost wished we could accept that answer but we knew there was something more and kept searching for concrete answers.

Finally, we saw an incredible neurologist in Dallas that immediately connected with Brinley and was determined to figure it out. She too was a young mother and had a strong feeling something more than a developmental delay was going on with Brinley. After several tests including an MRI came back seemingly clear she recommended we undergo whole-exome genetic testing, which had only recently become widely accessible, to rule out any genetic disorders. And so a few weeks later in August of 2019 when Brinley was 10 months old, we received the diagnosis that she had an incredibly rare genetic disorder called Ogden Syndrome (OS). Our neurologist explained it the best she could while adding it had only been diagnosed in about 100 people at the time- in the entire world, ever. There were so many more questions than answers and we quickly started to realize major challenges would lay ahead for all of us.

Almost immediately after getting the OS diagnosis, Kelly lined up another specialist that was able to formally diagnose Brinley with Autism as well. It was an absolutely critical diagnosis as it helped open so many doors to see other specialists and obtain quick insurance approvals for services like therapy which Brinley desperately needed.  Unlike OS, Autism is widely understood and recognized.

Brinley began intense therapy well before her first birthday and while the progress often seems minimal day-in and day-out, especially when you consider the amount of effort it requires of both Brinley and Kelly, we can confidently say Brinley would not be where she is today without it. Her therapy includes Occupational Therapy, Physical Therapy and Speech for a total of three hours twice per week and ABA Therapy in the morning and afternoon for roughly five hours a day. In all, her therapies total approximately 30 hours per week and it’s been at that level for a few years.

The first couple years of therapy were challenging to say the least. Early on, we learned OS affects Brinley’s neuro motor skills so the connection between how Brinley wanted to move versus how she could move was vastly different. She was battling hypotonia in her trunk, hypertonia in her extremities and general muscle weakness. The combination was inhabilitating and an intense PT regimen was necessary if we had any chance of her achieving physical milestones such as walking down the road. The overall effort required of Brinley to accomplish simple milestones, such as sitting-up, nearly took her to exhaustion and caused more tears than anyone wants to witness as a parent. It was heartbreaking. During the early stages of therapy, we even questioned if we were doing the right thing for her. But slowly, we began to see the hard work pay-off and Brinley was getting stronger.  At one year old she could sit up. At two and a half years old she stood independently. Then she began spending thirty minutes to an hour a day in a stander, eventually graduating to a gait trainer, to help teach her to walk. She took her first steps at three and a half years old and now she is quickly progressing towards running as she approaches her fourth birthday. Being able to walk has opened up her world so much and she’s so happy! She’s on her third pair of AFO braces which help her stability and confidence in walking. We’re certain the years of intense PT and OT were the key to Brinley walking and it has increased her developmental growth across the board.

Similarly, ABA therapy has been life changing for Brinley and our family. It provides one-on-one support which has been crucial in her overall development, behavior and communication skills. Thanks to the assistance of her one-on-one ABA therapist she is able to attend a typical preschool in a normal classroom three days per week. We’ll also add that the other kids absolutely adore Brinley. At preschool, they are working on peer interaction along with the social norms of a classroom setting so she can be ready for elementary school.

Communication can be a real challenge for Brinley and it’s obviously so important. Her Speech and ABA therapist have done an amazing job working in parallel to improve her communication skills. She can say roughly 10 words and is able to use simple sign language. Our current focus is improving her communication skills to ease her frustrations.

She is now learning how to use a Proloquo communication device and she impresses us every day with what she is learning.

Despite all the challenges she was dealt in life, Brinley was certainly blessed with the ability to instantly connect with people and win their hearts in a matter of moments. She’s incredibly social and loves being around everyone. When she walks into her class all the kids run over to her excitedly shouting “Brinley is here!”. She has a silly and spunky personality and you can’t help but love her. And it’s a good thing she has that going for her because she is certainly a handful and full of sass! Her twin brother would attest to this as she is frequently found chasing him around, swatting him, and giggling while he is running away yelling at her to stop. Sibling love at its finest.

Brinley is the love of our lives, she is so innocent, so loving, and just so pure. It’s hard to put into words the love we have for her, but we could best try to explain it to parents. It is most similar to the kind of unconditional love you have for your children, the kind of love you simply couldn’t comprehend existed until you have kids of your own. The love our entire family has for her is just that, love you simply cannot know until you have someone like Brinley in your life.

While every day brings a new set of challenges, we are incredibly proud of Brinley and her progress. She has to work ridiculously hard and fight to hit every single milestone in her life, the type of milestones that naturally develop with minimal effort for the rest of us like learning to eat, sit up, walk, talk, etc. All of these things are like climbing mountains for Brinley. Thankfully she is incredibly driven and independent almost to a fault. There’s not a mountain she can’t climb and we are so excited for her and her future!

-Kelly and Todd

Kamilla

On July 22nd, 2014, my husband and I brought a beautiful baby girl into this world. When Kamilla came into this world, she was silent and unlike any child I have seen born, there were no tears, no screams– just a perfectly quiet little blessing. We had no idea at the time that her silence would go on for years, and not only did we have a baby that never cried, but we had silence from all the doctors, as no one could give us any answers.

Fortunately for Kamilla, her smile speaks a million words, and she touches lives everyday with this infectious smile. When Kamilla was two months, she was diagnosed with two holes in her heart which the cardiologist watched closely until they closed and then discharged us and told us we would never have to see him again.

At 18 months Kamilla, was diagnosed with Hypertrophic Obstructive Cardiomyopathy and had open heart surgery when she was almost two years old. Due to some oversight by the medical team 24-hours after her surgery, Kamilla’s heart stopped, and my husband and I stood there begging God not to take our precious baby while the team rushed in and worked on Kamilla; this resulted in a second emergency surgery at the bedside.

For the first two years of her life, we were admitted to the hospital roughly every three months for respiratory distress. During all this time, Kamilla was not developing the same as other children. She wasn’t crawling or walking the way other children her age were. She wasn’t babbling and saying all those first words parents long to hear. Her physicians re-assured us all her developmental delays were related to her heart disease. We were uneasy but had to trust the physicians.

Kamilla was full of love and kisses and giggles. When Kamilla was three, we transferred her care to Dallas Children’s Medical Center. We had had one too many bad experiences at the local Children’s hospital, and from that point forward, we started finding answers.

After Kamilla met a geneticist and had three rounds of extensive genetic testing, we finally had an answer. As the Geneticists read the definition of Ogden Syndrome from a sheet of paper, because he too had never heard of the disease, we knew we were in for a long journey full of no answers.

From the time she could sit up in the grocery store shopping cart, Kamilla has been touching strangers’ lives. Strangers would come from across the store just to touch her and see her smile up close. Often, they would pick her up, hug her, and tell us how she had made their day. This little girl has the strength and power of God within her, for certain, and knows exactly who needs Kamilla loving when she meets them.

When Kamilla was five, she was diagnosed with Mitral Valve Stenosis and after medically managing it for a couple years, she recently underwent a mitral valve replacement, and in true Kamilla fashion, she hit every road bump post-operatively. Kamilla went into liver failure, kidney failure, and was not responding.

Again, my husband and I found ourselves praying that God’s Will be done and praying even harder that His Will was to let us keep our precious rare girl. With a prayer circle that reached many states and countries, God heard our prayers and in three weeks, Kamilla was home and running from window to window to greet the neighbors.

Kamilla is blessed with two sisters who love her to no end. Kinzley, who is 10, and Evelyn, who is 3, and she could not wait to get home to see them.

She now has nine specialists and three therapists that we visit. She is continuing to grow and develop at her own pace and is working with her therapists on a communication device so that she can put into words her wants and needs. Kamilla has a list of medications and diagnosis that take up page after page, and she continues to fight through them day in and day out.

Kamilla gets to go to school, which she absolutely loves, and there she has a second set of therapists who are on her team. She amazes us every day with her strength and determination, especially if she knows her end goal is to get a popsicle or to give someone a hug!

Stefanie

Caroline

This is the story of an 11-year-old girl named Caroline. She is more the spicy version rather than the sweet one you hear about in the song, but she’s our favorite anyway! She, along with myself (Jenny) and my husband (Bradley) live in Central Florida. This works well for us as Caroline has a passionate love for all things ocean and water related.

After a 5-year roller coaster ride, Caroline was diagnosed with Ogden Syndrome in September of 2016 through whole exome gene sequencing. She was born in 2011 after a normal, healthy pregnancy and delivery. I can’t explain it, but from the beginning I felt that something wasn’t quite right. Over the first several months of her life she was very slow to grow, had a small head circumference, slept much more than other babies, and was not progressing with her motor skills. As with most first-time moms, my concerns were met with the wait and see speech from the pediatrician as well as early intervention evaluators. Feeling frustrated and seeing that she was still not even sitting up by herself at age 1, I reached out to a neurologist and developmental pediatrician. After an abnormal MRI and going through various cognitive and social evaluations, we were given both Cerebral Palsy and Autism diagnoses. Feeling both empowered and panicked that I needed to get Caroline “caught up”, we hit the ground running with ABA therapy, OT, PT, Speech, Music, and Therapeutic Horseback riding. ABA, OT, and PT were very helpful with her progress, but she was still very much delayed cognitively and with speech.

In September 2015, Caroline had her first seizure. In many ways this was the key to us getting to our correct diagnosis. Her seizures started and progressed quickly to the point where she was experiencing hundreds per day. During one of our various hospital visits for testing and overnight EEGs, it was discovered that Caroline had a heart murmur. These additional medical complications ultimately led to us meeting with a genetic counselor who thought it would be beneficial to undergo whole exome gene testing. While we had already been tested for other known genetic syndromes and hadn’t found anything, this test had the ability to find what could simply be mis-alphabetized genes. In August 2016, Caroline underwent a brain surgery to attempt to stop the spread and reduce the frequency of her seizures. Three weeks later she was diagnosed with Ogden Syndrome. The geneticist explained that this was a spontaneous mutation (not inherited) and that little to nothing was known about it. She went on to say that we would probably know more about it than she would and that we should look to social media to connect with other families who may have the diagnosis.

It was more exhaustion than shock when I heard her words. I didn’t want to deal with explaining yet another diagnosis to friends and family, especially when there wasn’t much I could even tell them about it. About a year after receiving the diagnosis, I found our group on Facebook. To say it was a relief was an understatement. I have never felt so instantly connected to complete strangers from around the globe. It has been invaluable, and the greatest help and support of our journey. While Caroline continues to be completely dependent on Bradley and myself for her daily needs and activities, she excels in personality and problem solving (i.e., pretending to be asleep to get out of therapy). She is non-verbal but manages to get her point across and show love and affection to others. It takes a lot of extra effort, planning, and physical support for activities, but she has participated in recreational soccer, adaptive ice skating, adaptive surfing, and dance classes. Caroline is our greatest blessing and inspiration. She has taught us so much and given us a fresh perspective on life.

-Jenny and Bradley

Savannah

Meet Savannah. Savannah is my beautiful rare gem who inspires me daily. She’s truly one of a kind. We are a family of three. Savannah is our only child and she lives at home with Mark and me (Lacey) in Salem, Massachusetts.

Savannah was diagnosed with Ogden Syndrome in March of 2015 through whole-exome sequencing. Savannah has a complex history from the moment she entered the world. She suffered a stroke and brain bleed during birth leading to hydrocephalus. Savannah consequently required a brain surgery to place a VP shunt resulting in a six week NICU stay. Her stay was also complicated by feeding difficulties. During her NICU stay, her skin was very mottled, her cry was weak, but throughout she demonstrated her warrior attitude. Savannah is a tough little girl who has endured so much, smiling through most days. She is pure, strong, brave, beautiful, happy, hard-working, funny, resilient and the biggest blessing in my life. She’s my rare gem.

Initially when Savannah was diagnosed, I honestly thought it was amazing that she was so rare. We were told 1/6 in the world. Then everything set in. How would I get answers? Would she live long? What would her future look like? Thankfully we immediately connected with two US families sharing pictures, stories, and a Facebook group was started. It was crazy to learn some of their similarities. Our group has grown so much and has given me so much hope that there are girls near my age living with her same mutation. This was one of my biggest fears early on.

Following the diagnosis, we set up an appointment with cardiology because of the risks for heart arrhythmias and that Savannah carries another heart mutation (independent of her NAA10 mutation) that was discovered with genetic testing. We already had every specialist under the sun and adding cardiology was a little scary.

Savannah is 100 percent dependent on us for her daily living skills. Some of our biggest challenges were not early on but have emerged as she has grown and different challenges were added, including epilepsy. Savannah is nonverbal, non-ambulatory, and legally blind due to her cortical/cerebral visual impairment diagnosis. This presents many challenges, but loving her is so easy. She truly gives me strength every day.

I find some of life’s biggest challenges to not really be my biggest concerns although sometimes they are very frustrating. We are constantly fighting and advocating for what she needs whether it’s with insurance, school, or anyone who doesn’t understand the complexities of raising such a unique child. In addition, trying to figure out financially how we will support her needs including a one-level house, a wheelchair-accessible vehicle, and any supports that are not covered through insurance that she needs. This can be mentally draining when you’re in the thick of it and trying to remain focused for your child, but we always move forward and conquer our next obstacle.

I have found connecting with other families of children with special needs to be so helpful. When Savannah was two, I joined an infant-toddler group at Perkins School for the Blind where I connected with families raising medically complex children with special needs.

Connecting with others via social media has also given me strength along this journey. In learning to open up and share our own journey, I have also opened up to community events for children with special needs including: adaptive hockey, adaptive surfing, Team Hoyt racing, adaptive skiing, biking, horse therapy, and more. Always seeing the ability in disability. It’s truly rewarding. Above all, our Naa10 family is strong, full of different ideas and recommendations and a more intimate place to share your journey, ask questions, express concerns, and connect to other families.

I hope any family living with NAA10 knows that immediately they become a big family of Naa10 supporters. It’s truly amazing to not know many of the families but to feel so connected. I also want anyone with a new diagnosis to know that it’s going to be OK. There will be tough days but those days will only make you stronger. You will see the warrior spirit and want to fight as hard as your child will fight in their daily life. You will be inspired by this amazing group of children and families. You will grow tremendously from this journey and when the days are tough, know that we are here and we are your NAA10 family.

-Lacey Smith