Support Luke's Journey to Health and Happiness
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Hello everyone,
Today is a very special day—our little man, Bubba “Luke,” turns 3 years old. As Gina
and I celebrate this milestone, we’ve decided to share some of what we’ve been going
through with Luke over the past few years. Since we’ve recently been invited to an
exclusive medical conference in Los Angeles this December that we hope will present
an amazing opportunity for Luke and our family, this seems to be the perfect time to
bring everyone up to speed with what is going on with our special little guy. While some
of you may already know parts of this story, we’ve kept much of it private until now.
Three years ago today, Luke came into this world healthy and strong. He had a normal
weight and height, passed his hearing test, and within 24 hours, we were home with our
little man. The first few weeks were wonderful. However, soon after, I faced my own
health crisis with bilateral pulmonary embolisms. Just as we were getting through that
ordeal, our whole family, including Luke, came down with COVID-19. It was terrifying.
Luke struggled to breathe when lying flat, often gagging and choking. We spent
countless nights holding him upright, praying for his safety. Thankfully, we all made it
through, and we hoped the worst was behind us.
But as Luke approached 6 months old, we began to notice some concerning signs.
While he met his weight and height milestones, he wasn’t responding to his name or
tracking us around the room. We also noticed his eyes were off-axis, appearing
misaligned. We took him to the Wilmer Eye Institute, where he received glasses to help
correct his vision and strengthen his eye muscles. He looked absolutely adorable in
them (though I might be a bit biased), but even with the glasses, his issues persisted.
He also struggled with eating, and it became very difficult to keep weight on him. At
several points, we were discussing a potential feeding tube, and he started falling
behind on other milestones as well.
By June 2022, Luke was seeing a team of specialists at Johns Hopkins Hospital,
including nutritionists, gastroenterologists, otolaryngologists, ophthalmologists,
neurologists, and geneticists. Gina and I initially thought his challenges might be related
to diet or feeding issues, but something else didn’t seem right. After months of
appointments, tests, and various feeding strategies, Luke still wasn’t gaining significant
weight or progressing as he should.
In November 2022, Luke had to undergo several painful tests, including multiple blood
draws. It was a nightmare trying to find a vein in our little guy and holding him while he
screamed in agony was heartbreaking. He also had an MRI of his brain, and I had to
hold him as they placed a mask over his face. Watching him go limp as they carried him
away for the procedure was one of the hardest moments of my life, and I hope no
parent ever has to experience it. Just a few days later, Luke had to be put under again
for eye surgery. When we arrived at the hospital, the staff recognized both Luke and me
from just a few days prior. They all loved him, and their kindness helped us get through
that difficult time.
Luke made it through his surgery with flying colors, and we immediately noticed a
difference—he started visually tracking things around the room and was more engaged
when playing with toys. His eating improved slightly, but by the time he was 15 months
old, he had still only gained one pound since reaching his first milestone at 6 months.
The results of his MRI were normal, but it was clear that something more was going on.
We were finally referred to a geneticist, and after more testing, we received the results:
Luke has two genetic mutations. The first, TBC1D25, is largely unknown and not well
documented. The second, GABRA1-related Disorder, is better understood but still rare.
GABRA1 is a gene that plays a crucial role in the functioning of the brain and nervous
system. It provides instructions for making a type of receptor called a GABA-A receptor,
which interacts with neurotransmitters to send and receive signals in the brain. When
there are variations or mutations in the GABRA1 gene, it can affect how the brain
responds to GABA, leading to imbalances in brain activity. These imbalances can be
associated with neurological conditions such as epilepsy, developmental delays, and
other similar disorders.
Luke has already shown signs of some of these challenges. His EEG results revealed
some anomalies which are often observed in individuals with GABRA1 mutations, even
in the absence of clinical seizures. Luke is at risk for developmental and epileptic
encephalopathy (DEE), a severe neurological disorder characterized by early-onset
epilepsy and developmental regression or impairment. He also shows signs of global
developmental delay (GDD), which refers to significant delays in multiple areas of
development, including cognitive, motor, social, and language skills.
Receiving this diagnosis was both a relief and a new source of worry. Luke’s care team
now includes about 15 doctors from Johns Hopkins and Kennedy Krieger Institute. He
has undergone numerous tests, EEG overnights, and therapies to help him progress.
The journey has been exhausting, but we’re determined to do everything we can to
support Luke.
Luke has been making progress. He’s gained almost 6 pounds since he turned 1, but
feeding remains a significant challenge. He struggles with the textures of food, often
spitting it out after only a small amount stays down. Communication is difficult—he
doesn’t speak much besides “mama” and “dada.” He crawls and pulls himself up but is
at high risk for falls since he doesn’t yet understand the danger. Luke is an EXTREME
wiggle worm, making diaper changes and dressing a daily adventure. He rarely sleeps
through the night in his own bed, a special containment bed called a Cubby bed. Most
nights, Gina ends up bringing him into our bed for the rest of the night. We still need to
spoon-feed him and supplement him with bottles of Pediasure to help with weight gain.
Next week, Luke will start PreK 3 at Battle Monument School, a special education
school. We’re hopeful that the full day of education, therapy, and specialized training will
help him progress even further.
Through hundreds of hours of reading and researching Luke’s condition and symptoms,
we were connected with a Facebook group called GABRA1 Research & Support | Cure
GABA-A has connected us with other families facing similar challenges. This
group has been a lifeline, offering support, information, and a sense of community.
This journey has been incredibly challenging for our family—emotionally, physically, and
financially. Even with health insurance, the costs have been overwhelming at times. Our
bank accounts are drained, and it has affected our ability to enjoy family outings, spend
time with friends, and give our kids the experiences they deserve. Finding childcare,
even for a night out, is sometimes next to impossible (but we are extremely thankful for
our family and friends who help out whenever they possibly can). To help cover costs,
I’ve had to make some tough decisions, including selling my motorcycle and other
hobby items that mean a lot to me, but nothing is more important than Luke’s well-
being.
We’ve been invited to the Cure GABA-A 2024 Conference in Los Angeles this
December. This conference is a unique opportunity to personally meet leading experts
in GABAAR research face to face, and also connect with other families dealing with
similar issues. This could be life-changing for Luke and open the door to opportunities
and resources that we could never access otherwise. However, we need help to afford
the trip and cover some of Luke’s ongoing medical expenses which aren’t covered by
insurance.
I’ve always been someone who prefers to handle things on my own, but for Luke, I’m
willing to ask for help. My family is my life, and I will do whatever it takes to improve it. If
you see me posting a GoFundMe, selling items, or holding yard sales, it’s all for my
family. Any support you can offer would mean the world to us.
As we celebrate Luke’s 3rd birthday today, we can’t think of a better gift than one that
could change his life and ours. Thank you for taking the time to read this, and for any
help you can provide.
Organizer
Ben Sloboda
Organizer
Dundalk, MD