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!

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. 

A LOT has been happening in 2020 in the world. Here is a brief update on where our daughter, as well as the ATIC community at large stands.

In February of this year, our daughter started exhibiting a strange "intense stretch" behavior that led us to fear that she was once again having infantile spasms. We had an "ambulatory EEG" (Pictured at right) and it was concluded that the behavior was something non-epileptic known as "shudder attacks." Apparently these are fairly common in children under the age of 1, so the only anomaly was the fact that our daughter showed them above that age. As our neurologist dismissed them, so did we.

Developmentally, our daughter is still exhibiting global developmental delay, but has continued to show growth. She is now walking and is able to get food from the plate to her mouth on her own. Both her physical and occupational therapists have been happy with her improvement. The area she has the most trouble with is speech where her main words with association are "up," "apple," and "baby."

The BIG news for the ATIC Gene community is that in June a new paper was published documenting three additional cases of ATIC Ribosiduria in France! Then, for the first time, upon contacting the author, he replied! Our daughter is not currently a part of the paper, but looking ahead will hopefully be added to the research. Of ALL of the cases, our daughter seems to be the most mild in terms of presentation. She is also the youngest. We have collected additional metabolic tests to share with the researchers in France and we are  curious to see what happens next. Our family has also been in contact with one of the other families in France. Thank goodness for translation software!

As one last bit of news, in August, our daughter began exhibiting "head drops," and upon bringing her to the hospital for an EEG it was determined that, after over a year of being seizure free, her infantile spasms had returned. Our neurologist had also been hoping that her seizures had merely "morphed" into a new form of epilepsy, but with the presentation of hypsarrhythmia, it was clear that these were indeed infantile spasms. While the initial plan was to do ACTH for a third time, our daughter (and soon after the entire family) tested positive for COVID-19, taking steroids off the table. As a result, we have now started our journey with vigabatrin, specifically Vigadrone. We had been avoiding this medication due to its possible side effects of vision loss, but now that we are on it, we are crossing our fingers that this medication will be able to improve our daughter's EEG for the better.

Thank you for stopping by to read this post. Say safe out there!

Less than a year ago, during the holiday season of 2018, all seemed to be well. Our daughter, while missing developmental milestones, was happy and growing and we assured ourselves that all children develop at different rates so there was nothing to be concerned about.

Come February of 2019 at the age of 9 months and our daughter started to display small convulsions around bedtime as she also became fussy. We saw this happen on and off for about a week and thought nothing of it beyond another "weird" behavior exhibited by infants. Then, one morning she did the same thing after waking up so we thought to send the video to a neurologist who, upon receipt, told us to bring our daughter to the hospital. It was there that we discovered our daughter was exhibiting a symptom known as Infantile Spasms. 

To find the root cause of infantile spasms, the hospital ran an "overnight" EEG (Pictured) in addition to an MRI, lumbar puncture as well as blood samples to use for metabolic screening as well as genetics. In the end, while the lumbar puncture provided a hint, it was not until the genetics returned a month later that our daughter was officially diagnosed with ATIC Deficiency due to inheriting two recessive mutations of the gene.

The next few months were a whirlwind of doctors visits and medications that will be detailed in future posts. As of June 2019, after one relapse, the Infantile Spasms have been under control as a result of using two rounds of ACTH injections. Our daughter still exhibits "Global Developmental Delay" but we are working every day to help close the gap.

As parents we are now settling in to out "new normal," and we are placing our focus into building a community as well as finding out more information about ATIC Deficiency. Being only the second known case leaves a lot of questions unanswered and it is our hope to learn more about the potential long term outcomes of this rare genetic mutation and disorder not only for ourselves, but to help provide a road map for others.

Thank you for reading the start of our journey. We look forward to providing future updates, not just about our journey, but about rare diseases in general. In the meantime, if you wish to learn more, check out information about Rare Disease Day 2020 which, at the time of this post, is just over 100 days away.