2023 UPDATE

It has been quite a journey since the last post in 2020.

As a family we made it through COVID with no unique medical issues. However,  we were uncomfortable with Evelyn being on Vigabatrin due to potential side effects and our daughter continued to seem "off." So we spoke with our neurologist to see what other options were available. He proposed to place our daughter on the ketogenic diet. (Fun fact, the "Keto" diet has existed since 1924 as a treatment for seizures and it only recently became a dieting fad!) This said, food is a central part to our family and we hesitated to restrict our daughter to a prescribed foods in certain ratios, but after much discussion and research we made the shift in December of 2020. 

The hospital onboarding was difficult. Our daughter at one point was completely unresponsive due to low blood sugar, but with  the help of the medical team we were able to get her stabilized and our official Keto journey began. The Charlie Foundation has been a wonderful resource and we were provided with a login to their keto diet calculator that has allowed us to "make" meals from scratch to ensure they meet the necessary ratio. What began as a chore to make three meals and three pre-measured snacks has now settled into a familiar routine. This is not to say it is easy as there have been many times we just want to give her a goldfish or other quick snack, but it has been encouraging to see her grow. There is even a sense of accomplishment when we measure an ingredient to the exact number of grams the first time! 

As a result, our daughter has been seizure free since August of 2020 controlled only by the diet. This said, to help balance her nutrition and assist her body in processing a high fat diet she takes the following supplements (EfferK, A Multivitamin, Miralax, Vitamin D & Calcium, L-Carnitine, Probiotic). Early on there were quite a few travel experiences where we left one of the above behind or did not pack enough resulting in frantic calls or in one case a 10 hour solo-road trip back home to retrieve the missing supplement. 

Outside of the diet, medically our daughter was having pretty consistent ear infections, even after putting in ear tubes. As a result we opted to have her adenoids removed. While the initial reaction to the surgery was difficult, especially with keto, she has not had ear infections (to our knowledge) since. She still has consistently enlarged tonsils, and it has been recommended that at some point we should shave those down.

Our big medical scare in 2022 were concerns that our daughter had developed liver cancer. This started from an interesting scan on an ultrasound followed by elevated AFP (Alpha Fetoprotein) level on a blood test. After a higher resolution image on an MRI, it was determined that the growths were focal fatty deposits and not cancer. Phew! At this time no further action is to be taken, but we continue to monitor her liver to see if further intervention is needed.

Diet and surgeries aside, our daughter has continued to make progress. She is now able to walk up stairs independently with the assistance of a handrail. She no longer wears her SMO (Supramalleolar Orthosis) for support and she is managing well without them. While her expressive language is still limited to two word phrases, her receptive language has expanded as she is able to understand directions and follow them if she wants...her personality is certainly starting to come out!

These gains are likely in part to her specialty school which has an incredible curriculum to allow her to interact with both typically developing peers as well as children who are on a different path. The support of her family and friends has made this unique journey become more manageable, even if the future is still unknown.

As is noted in the research section, in 2022 two new papers were published increasing the total documented cases to 8 (4 in France, 2 (twins) in Italy, 1 in India, and us here in the states)! Our goal for the coming year is to try to get our daughter's case published to see if we are able to find other cases here in the states.

Thanks for checking in and we hope you are doing well.