Annette Maughan: After 7 years, our little miracle, Bug, made two….three.

Small, perfect, happy and very hungry. This little boy led us into a world we never realized existed, a world we were unprepared to receive and a world we would change.

Bug was seemingly perfect for the first three years of his life. He hit his milestones ahead of time; he ate well, slept poorly and had a very large soft spot. ‘Don’t be concerned’, the Doctor said, ‘just watch out for door jams’.

Right before his third birthday, on October 25th, 2005, he had his first and second seizures. We took him to the hospital, had all the pertinent tests done and then, he came home. Just like that. As if nothing serious had happened. Four months went by with no additional seizures and we thought it was a fluke, an unknown. Silly Mom and Dad, couldn’t we sense the storm coming?

That next seizure, forced a sharp turn in direction for where we were headed. We began the never-ending Doctor visits, holding him while he had blood draws, holding him while he seized so violently I thought he would break bones. This quickly became our new normal. Every 4 weeks, like clockwork, he would have a full convulsive seizure. We began to learn about different seizure types, about what possibilities there were for identifying the cause of his sudden epilepsy. And, mostly, it felt like we were the only ones looking for a reason. We felt alone. I felt alone.

When I took the children to the park, it felt like all eyes were on my son. To me, he stood out. Everyone must know he wasn’t like his or her child. But, to everyone else, he was just a beautiful little energetic boy. To me, it no longer felt like he was actually mine. He was so different. It was then that I realized what I had actually known for years: different isn’t bad, it’s just different. An apple is not an orange and yet they are both delicious, but still, they are different. This was our son, he was different. Different from other children and different from the golden-haired friendly child we knew him to be.

For years he changed seizure types every few months, he never spoke, he began self-stimming and slowly, he stopped making eye contact. Then, he began seizing multiple times a day. Each year, there was no new finding, no diagnosis, just perfect test result after perfect test result, loss after loss, seizure after seizure. We were losing our boy.

It happened so slowly that we actually forgot who he used to be; we only knew who he was now, how much effort it took to just get him to stay in one place for longer than 30 seconds. It overtook his ‘smiley’ nickname; we forgot he used to dance. I researched, I studied, I learned a lot about epilepsy and a fair amount about autism. I read books and stayed up late referencing medical terminologies against tomes of medical literature. It is fair to say that I also lost myself to his condition. I joined the Epilepsy Association of Utah Board of Directors and found support I never knew existed within the self-imposed isolation we lived within.

In 2011, he was close to death a few times. Status Epilepticus almost took Bug from us 4 times that year. Once, I sat by his bedside and held his hand while I heard his heart rate drop. 100…72…58…36. 36 beats a minute. I prepared to say goodbye to Bug. I held his little hand and expected to be the last thing he felt, the only love he would know, and I would hold him while he left us. But, that night, he stayed and things changed. Dedication turned to obsession. We changed medications, tried the Keto Diet which made him worse, we got genetic microarrays and finally a lumbar puncture. We were told all tests were normal. Normal.

It was the lumbar puncture, after 4 years of asking for it, that gave us the first insight and the first diagnosis: Cerebral Folate Deficiency.

Sitting in the office, hearing that something had been found that wasn’t perfect, something that they knew about an entire year before and lost the results turned us into statues. We sat, frozen, staring at one another and we repeated what we had heard: the test was done last year and there was a low 5-MTHF level. What was that? What did that mean? And then…what caused it? He started an analog folate supplement and began sleeping better, seizing less and began looking at us again. It was a start. A very good start.

The CFD diagnosis led to testing for a Folate Reductase Autoantibody. I would like to say we found a Doctor that guided us in that direction but we didn’t. It was my obsession that found it and taking the printouts to our Pediatrician who excitedly ordered the test.

‘Yep, He’s got some!’ the email read. It was confirmed that Bug does have an autoantibody. This autoantibody both blocks folate production and folate binding to help build proteins and regulate immune system function. It is quite serious and he began treatment after visiting the Arkansas Doctor that helped define FRa. He only had two treatments before our insurance began to deny it. After each treatment, he wouldn’t seize for days. We couldn’t let this go. We asked to pay out of pocket. They estimated that each treatment would cost almost $10,000 and we were prepared to pay it, we dedicated ourselves to paying for it. When the numbers were finally crunched, it was actually around $3,000 per treatment and we knew we could do that. But, the hospital was uncomfortable with it and wouldn’t sign off on the treatment. It was a big setback. Heartbreaking and unacceptable. As I was gearing up to make the insurance company cry, I was drawn into legalizing a specific cannabis product in Utah.

Throughout that entire legislative session, I would go to the Capital while Bug seized. I would testify, and shake hands and teach lawyers about epilepsy while Bug seized. It was worth it for the people of Utah to be able to try this cannabis-based treatment with the passage of HB105 – Charlee’s Law, but the cost to me personally was almost too high. No pun intended. Once it was over, I refocused on searching more causes of intractable epilepsy. And Bug started a cannabis-based oil.

3 months after the session ended, The Atwater’s, whom I met while working on Charlee’s Law, established ‘Aware of Angels’ and received funding for whole exome testing for several families. They invited us to participate. We originally and very politely said thank you but no, offering to let another family have our spot, but a little while later, Season Atwater asked again. We talked about it. Why doesn’t Bug deserve it? Why shouldn’t he have a chance? Why? Because we had given up finding those answers, it was elusive and always would be, we thought. We had resigned ourselves to never knowing, to watching him die eventually without knowing why. Still, we had to try. It is the mantra of the undiagnosed: We have to at least try.

Months went by, some things changed, Bug did well on the cannabis, and then we got a call. There was something. Something that shouldn’t be a thing. When it is a thing, it’s a bad thing.

Bug has KBG Syndrome. He is one of 60 known patients. Of those 60, he is the ONLY one that has an insertion in the ANKRD11 gene and not a duplication or deletion. After 9 years, we have an answer. But we are no closer to a successful treatment. KBG syndrome is a treat-as-you-go syndrome. The underlying deficiencies are not treated, only the symptoms. It is nothing more than what we have been doing. Small gratification knowing what to swear at. With 60 known cases, treatments are not a priority. So says the medical community, but not the rare community. The rare community says: we have to at least try.

For our boy, our little Bug, and for those who share his diagnosis, we are building a community. We are reaching out to the world to find his equal, to find this family of KBG patients that deserve a treatment, that deserve to have a voice, an advocate or advocates to help them find comfort and kin. Knowing is one thing, knowing what to do with it, is quite another. The more KBG patients and families we find, the more likely we are to find a cure. The more likely we are to provide awareness, acceptance and understanding earlier in a life full of unknowns. We will not give up on this, we have come too far, fought too long, sacrificed for so many other people, now is his time, now, Bug comes first. To help him, we need to find more like him. We need to innovate a treatment, examine the possibility of a cure and provide support for those who are used to being told there is nothing more to do. We have something to do: we have a world to change.