2024 Update

As 2024 comes to a close, here is a brief update on where we stand in our journey. All good things!

Our daughter has continued to grow and progress. She can now run more confidently with her head up and, more importantly, without tripping! We are still in diapers, but she will communicate she needs to you the potty most of the time (some days are better than others). Her fine motor skills are improving, but we are yet to be able to write any letters without assistance. This said, we are able to get a "+" shape pretty consistently so our next goal is circles! Receptive language is strong enough where it is now clear she can understand what we are asking, but is instead choosing not to do it. So fun to see her personality come through. In terms of expressive language, she can count from one to ten and can state all of her letters when she sees them. She is also starting to put more than three word phrases together, such as "I wa mo Peppa Pih, Pease."

Speaking of Peppa Pig. We went through a Minnie Mouse phase followed by any and all animals and she is presently in love with Peppa Pig. Her favorite place to visit is certainly the zoo.

Medically, 2023-2024 was pretty tame with the main medical intervention being shaving her tonsils. The her dentist had consistently  stated her tonsils were enlarged and her ENT agreed it would be worth taking them out. The experience from previously removing her adenoids had us ready with her ketogenic favorites along with keto ice cream and she revered well. After healing, we have noticed her being able to speak more clearly and we no longer have ear infections or severe sinus congestion.

Other than tonsil removal, the only other medical appointments have been check-ups. Ultrasounds of her liver have continued to come back clean and her bloodwork shows she is stable with the keto diet. The only other change has been a new pair of glasses with her prescriptions slightly increasing strength.

Research wise, there was a new case published in 2024 in Germany, bringing our total to 10. In addition, another family from the United states contacted us through this site so we are now at 11! We are on our way to building a community!

Lastly, while we did not meet our goal to have a paper published in 2024, her doctors have recently submitted a manuscript so we are hoping that 2025 is the year we can post our case and put the US on the map to continue to expand our community.

Thank you for swinging by. I hope you stay well!