When I was asked to share our story at the Utah Rare Symposium, the one where we find out how we created a very unique little person, not intentionally mind you, I thought:

When did our story actually begin?

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It began during a family trip to Mexico in 1946 when the 5 year old only son in a family of 9 uttered his very first words: So, what do you want to talk about?

Forest Fires or Rattlesnakes?

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That son, 19 years later would watch his oldest son be born and then say HIS first words at the age of 4. Doubtful there was anything about forest fires, but no one remembers.

Another 33 years later and this child’s son was brought into the world, small but lively, and destined to not utter a discernable word in his, so far 13 years of life.

This son would begin instead to have seizures at the tender age of 2 years and 11 months.
We asked ourselves, why does this new son, this next in a long line of strong men of agriculture and science, born to stout women, have seizures?

Why does OUR son have seizures?

Let’s use the popular topic of discussion in the Maughan family: Forest fires AND rattlesnakes.

We can very easily equate what was going on with our son as a fire. It started with a spark…many years ago, a similar gene, or inherited trait. It then could have taken one of two paths, that spark could have gone nowhere, burned out – bred out. Or, as was the case with our son, a little tinder could have been added and it began to smolder.

Glenn David Maughan inherited his father’s first name as his father inherited his father’s name, and so we call him Bug.

Bug was a rattlesnake bite AND a forest fire all in one seemingly perfect little body. Let me explain…

Bug began his life, healthy, typical, interactive and happy.

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By year 3 of his life, he had a little sister and began to have seizures.

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That spark began to smolder…a year later the seizures changed, became more regular and the real fire began. The genetics he got from his dad and that, which he got from me, sparked this fire, this soon to be out of control wildfire. We began to aggressively search for the cause of his epilepsy and his regression when he was 6. He had genetic testing, his genes were shared in databases for future reference, but all tests were…normal. ALL tests were normal. By the age of 9 our efforts to contain the fire where lost and he was nearly consumed when he went into Status Epilepticus. For those that don’t know what that is, he was seizing nearly nonstop. His EEG showed he was having one seizure every 15 seconds but was showing almost no outward appearances. The official term is Nonconvulsive Status Epilepticus and it’s terrifying. We could have lost him 4 times in 18 months. We added medication after medication, failure after failure, we tried the keto diet, we tired anything we could but the fire was growing. And in the middle of this raging inferno, I poured a teaspoon of water on it when I asked a new attending Doctor for a lumbar puncture. When the results came back after being lost for a full year, (yes, I know…oops and more) we were handed a fire hose.

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After 3 years of asking for this test, and 3 years of being asked WHY I wanted it, what was I looking for and being told it ‘wouldn’t tell us anything we didn’t already know’, we actually learned something new. Go figure. We learned that Bug did not have enough folate in his brain one of his very important neurotransmitters was low.  He was diagnosed with Cerebral Folate Deficiency. His FIRST official diagnosis. Having that ONE clue into what was going on with him was the start of something really grand: successful treatment or the fire hose.  Bug began taking a folate supplement, a folate very specifically designed to cross the blood/brain barrier before it begins to break down and I said to Glenn and his Neuro: what caused this? No one had an answer. It seemed we would be holding that hose for the rest of our lives, just focusing on the most intense part of the fire. But Bug began to sleep better, his seizures reduced, he made better eye contact and still, he was not really ‘there’, not present like he had been when he was younger, I would hold the fire hose all his life if needed. But still, I had to answer that question: what caused the low levels of folate?

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I jumped onto Dr. Google. Don’t cringe, I Googled responsibly, and what I found didn’t take too long but it caused it’s own set of issues. Still, another piece of this puzzle was exposed, another ‘hot spot’. I found that more than a few individuals with an Autism Diagnosis had also been found to have an autoantibody to folate and a diagnosis of Cerebral Folate Deficiency. This autoantibody, Folate Reductase Autoantibody to be precise, could be the CAUSE of his seizures and his regression.  Oh goody! Something to test for that might make a HUGE difference! I printed out all of the research papers and ran, not walked, to his primary care physician.

This Doctor had seen Bug at his very worst, he did not see the gregarious, outgoing, neuro-typical child, he saw the in-status, medicated, and detached child.  And he may not have been convinced Bug was anyone other than whom he had seen. Still, when I showed him the research papers, he took them and he READ THEM. I cannot stress how important that is. You MUST find a Doctor that is looking for all sources of possible combustion, you must have a Doctor that READS the documents you have spent days combing through and cross-referencing, you MUST have someone as interested in the answers as they are in treating the symptoms. When Bug’s Doctor, Weston Spencer, read the papers he said:

Wow, let’s call this guy! – And like that, we had instructions in hand and went on our way to get the blood draw. Several weeks later I opened my email to see the subject line: Yep, He’s Got Some! He meant he had blocking and binding autoantibodies. The excitement and fear were almost overwhelming; I sucked in a breath, held it for a moment and then slowly…let it out. When I opened that email attachment before I even read it, I thought: This could change his life. The results showed his autoantibodies were very high, the highest that the specialist had ever seen, but we didn’t find THAT out for another 18 months. We took the results to his neurologist and he upped follinic acid.  The follinic acid crosses the blood/brain barrier quickly, before his antibodies have the chance to attack, or at least that is the theory, and once his brain was getting more folate, he COULD come back to us. The fire…could be out. Dr. Spencer worked with 4 Doctors to get this, , the cause of our of first diagnosis, he read the research, he picked up the phone and he sent messages.

He advocated for Bug, really advocated for his care.

Dr. Spencer couldn’t be here but he sent this:
In this age of technology and digital social connections primary care physicians should be willing to embrace the idea of networking for patient care.   Even specialists sometimes have a hard time with this type of coordinated care. The hard part for physicians in a busy practice to wrap their minds around is the fear that this is going to take a lot of time.  If I can read a couple of articles, understand the science and contact the principle investigator to get the family headed in the right direction then I have perhaps saved some unnecessary visits, studies and aimless wandering.  This is frankly our job as primary care physicians,  to take a broad differential and narrow the scope of possibilities to provide definitive treatment or a logical path to follow to get a diagnosis.  As we are talking about rare diseases we should realize that this extra effort will usually only be required in the minority of patients.  We should also realize that this extra effort will make all of the difference to the families we care for.

We looked into his treatment options, drove to Arkansas, started immune system therapy and he didn’t seize for 3 days. He threw up a lot, but he didn’t seize.

We thought we were on to something and we felt like maybe we could put this fire out. And then…the insurance began to deny his treatments.

They stated he wasn’t covered for IViG to treat epilepsy; it was approved for Autism though.

We appealed, our neuro appealed and we offered to pay out of pocket. They told us no. One denial after another.
It began to feel like the fire was building again. And then, we were offered full exome testing after meeting some wonderful people while helping to get cannabis treatments in Utah for people with epilepsy. This testing was free of charge, for our entire family.  Initially we turned it down because we were thinking this is as good as it gets, this is our life…holding a fire hose and keeping the fire back. Then Glenn said something to me that I will always remember: Why doesn’t Bug deserve this? I emailed Season Atwater at Aware of Angels and she signed us up. And Bug started a pharmaceutical cannabis product in September of 2014. He began to sleep even better, seize less and he started humming again. My Boy started making sounds again!  In November of 2014, Dr. Gholson Lyon came to our house. Who says Doctors don’t make house calls?

As we sat listening to the diagnosis of KBG Syndrome, we heard 1 in 60 known cases, we heard the ONLY one of those 60 with an insertion in the ANKRD11 gene and not a deletion or duplication. And we heard: No standard treatment, just…treat the symptoms. It was exciting and disappointing.  It was a snakebite. Out of all the people in the world he had a random mutation that NO ONE else has…he has a sudden, deadly strike. I reached out to other families with rare conditions and one Mom, whom I consider my evil twin, told me this:

Getting a diagnosis is like this 1) YAY! An answer! 2) Aw, crap. 3) Well, that’s messed up. 4) But YAY!

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We were encouraged to reach out to other families living with KBG and we were told there was NO supporting organization. Glenn looked at me and said: Of course you will build one and I just shook my head yes, very vigorously.  We spent months sending each other research papers, I signed up for Google alerts, joined several online Rare Disease sites and took every opportunity to talk about Bug’s history to find a treatment.  I held that fire hose and put salve on the snakebite. There was nothing else to do while we STILL search for a treatment. With this snakebite we are looking at rare treatments, expensive treatments, genetic modifications and we are constantly wondering: How big will the fire get while we are treating the snakebite? Which one is more likely to do the most damage? We don’t know yet, but we are looking for those hot spots, and we treat them as they arise. This is KBG Syndrome. For now.

We know that none of our other 3 children have inherited his conditions, he is unique and the relief that brings has no words to convey. We now, for now, the fire will burn out for the rest of our family. There is, so far, no other person, plant or animal on this planet like him. Literally. A fluke, some might say: a mutation that should not exist.

We have all heard that, haven’t we?

But to us he is just a little boy who seizes, who enjoys his life fully; he is our little boy, born in fire.

FOR MORE INFORMATION  KBG Foundation

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About the author

Gina

Gina began working tirelessly as an advocate for the rare and undiagnosed diseases community several years ago after her and her family moved to Utah. She is the Co-founder and Executive Director of the Rare and Undiagnosed Network (RUN), Chair of Utah Rare, and Utah Ambassador for National Organization on Rare Diseases (NORD).

Gina is currently undiagnosed and the mother of three children with an undiagnosed genetic dysfunction. She is advocating for clinical whole genome sequencing covered by insurance companies and hopes to help rare and undiagnosed families emotionally and financially.

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