The Beginning of our Journey

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.