2020 Update

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!