AK who once could not eat, lived solely off bottles of pediasure, could not walk or talk, never crawled, who didn’t gain an ounce of weight for over a year and a half is now a very vibrant, fun loving, talkative, energetic little girl.
At the age of four months old AK starting having what her pediatrician called classic “Breath Holding Spells”. The first episode was very scary and we had no idea what was going on. Her episodes seemed like they were becoming more frequent triggered by agitation, anger, a bump on her head or things that took her by surprise. She lost complete bowel control with every episode and was developmentally delayed. We kept taking her to the doctor, but there was “nothing we could do for Breath Holding Spells”, so we tried to eliminate the trigger factors as the days/months went by. Our parental instincts told us that there was more to this. We just couldn’t see how a four month old baby, when upset, would know how to hold their breath to the extent of turning blue, stopping breathing, all enough to trigger a tonic clonic seizure.
When AK was almost a year old our family relocated to another state. She was having more seizures and they seemed to be lasting longer. Along with the seizures, she was having other complications, which later we have found out that she also suffers from general autonomic dysfunction. Concerned that she was having more seizures we found a new pediatrician in our new “hometown” hoping for answers. Again, AK was diagnosed with classic “Breath Holding Spells”. One day, she had an episode which triggered a grand mall seizure, we called the paramedics. She was in isolation for a week with a team of doctors on her case. The journey deepened from here.
The doctors agreed that there was something wrong, but had no answers. We decided we should visit out of state hospitals to find answers. She was on an EEG monitor for a week which concluded that she definitely was not having epileptic seizures. One out of state hospital gave us a tentative diagnosis of Rett Syndrome that was concluded by her irregular breathing patterns. Of course, being a concerned mom I started doing research on Rett Syndrome (RS). This diagnosis didn’t make sense and later after seeing a specialist was concluded she did not have RS. So, this brought us back to the beginning of our journey of chasing for answers.
A year later, AK was still having episodes. Her seizures were becoming more frequent and longer. We still had no answers. My husband and I started doing a lot of research on our own. Our parental instincts told us that we had to be her advocate. We knew it wasn’t “Breath Holding”. It was here, after a year of being into this journey, my husband and I discovered STARS. I contacted them via email to see if they could recommend a doctor that may know something about what AK was suffering from. I printed out and highlighted all of their information about Reflex Anoxic Seizures (RAS) and Syncope so I could bring to her pediatrician and Cardiologist. They both were not familiar with RAS and kept their same diagnosis, “Breath Holding”.
After contacting STARS I finally felt like there was hope. All of our research was paying off. They sent me their educational information and talked to me on the phone for a very long time answering my questions and reassuring me. They mentioned if we had taken AK to an electrophsiologist. My husband and I had never heard of this type of doctor. We were shocked that none of the specialists she had seen mentioned this. We immediately began searching for an electrophsiologist in our city. We found one, made an appointment, and it was here where we took a sigh of relief. This doctor has seen patients with RAS and Syncope. He put AK on a heart monitor and after he received the data he diagnosed her with RAS and Syncope. We now know that there is not much we can do to “cure” this disorder, but we have the education and support we need thanks to STARS.
Today, AK is doing great. She still has days having several episodes, sometimes back to back. Because of her autonomic dysfunction, she has other complications as well, but over all, she is doing great. I want to pass on the most important thing I learned on this journey, never lose hope in your child/ren and always trust your parental instincts. RAS episodes are scary to experience, but there is definitely peace to know there is great hope for the future of this and other related disorders, and support and guidance from STARS.