Meet Isabella

Alexia had a typical and full-term pregnancy with Isabella. Looking back, Alexia did experience odd vibrations that felt somewhat like tremors. She shares, “It was like little vibrations, it wasn’t like regular hiccup palpitations.”

It was never confirmed, but Alexia and Charles wonder if those vibrations were seizures that Isabella was experiencing in the womb. Other than those tremor feelings, Alexia had a healthy pregnancy and delivery.

When Isabella was three months old, she experienced her first seizure. They rushed her to the emergency room where the journey to a diagnosis began. The first neurologist that Alexia and Charles worked with told them that they did not think Isabella had infantile spasms.

After completing research on her, Alexia was positive that they were in fact dealing with infantile spasms, so she advocated for Isabella and pushed for an EEG to be completed. The EEG results proved Alexia to be correct and the neurologist confirmed that it was infantile spasms.

Isabella did not show any signs of developmental delay until she started having infantile spasms at seven months old. Alexia and Charles continued to research what was going on with Isabella and it was assumed she had epilepsy. They worked with UCLA to have genetic testing done, and it took four months for the results to be in. While in Florida visiting family for Isabella’s first birthday, the neurologist called to let them know the results were in and that Isabella had CDKL5 (cyclin-dependent-kinase-like5).

CDKL5 is a deficiency disorder characterized by seizures that begin in infancy, followed by significant delays in many aspects of development. The doctor said that Isabella would most likely never talk, walk, or self feed. The hospital offered their support and promised they would be with their family every step of this new journey.

At this point, Isabella’s infantile spasms were still not under control. They tried many different medications to get them under control but were not seeing improvements.

Alexia and Charles decided to put her on the ketogenic diet and shortly after, for the first time ever, Isabella’s EEG was cleared of infantile spasms. She has now been on the diet for two years.

But this diet does not come without risks. Alexia shares, “it’s very challenging and you have to manage and monitor it carefully because it can get dangerous. We were actually just discharged from the hospital because Isabella was acidotic, which is a risk when being on the diet. She caught a stomach bug and it made her bicarb levels drop critically low. Although it has its risks, it does wonders for a lot of kids who don’t have luck with seizure medications. We noticed she is so much more alert and active, and has a lot less seizure activity because of it. It’s been a miracle for our family and I’m so happy they are using it as a first line ‘med’ for infantile spasms and seizures.”

When asked what keeps them staying positive Charles shares, “The way that she handles everything. She would be hooked up to a million things and she would still find it okay to smile. She’s the one getting poked, uncomfortable. I’m not going through any of that. I’m the one having to feel sorry. I find it selfish for me to be sorry and upset.”

While the future for Isabella is unknown, the love her parents have for her and for each other very clearly radiates around them. They serve as a strong reminder to cling to one another when walking through the unknown and to hold onto the precious moments, such as a sweet smile.

Alexia shares, “All I’ve ever wanted for Isabella is just for her to be happy, just seeing her smile. I remember there used to be days were we couldn’t even get a smile from her and I just prayed so much that I just want her to be happy, please give me a smile, let her be happy, just know that she’s loved, she’s safe. Out of nowhere this personality bubbled up, now she’s a little sassy thing and she smiles. She’s amazing.”

Time to get loud shouters!

Throughout the month of August we will be shouting love for Isabella and her family. It is a great honor to be able to tell Isabella’s story and we hope you will join us in getting to know them.

So click here to shop now where every purchase will go towards the purchase of a handicap accessible van for Belly’s family. You can also start a monthly subscription and shout love for great families each month!

Join us in shouting loud for Belly!