Mighty and the Bean

Perhaps victory is a bit of a strong word to use for this scenario, but none the less. The same day we found out that Mark’s genetic results were back I received an Explanation of Benefits from Mark’s self insured plan that I obtained through the state. It indicated that Mark’s Kennedy Krieger program was not covered, and in fact, all of it was denied. The entire reason I hunted, fought for, and ultimately, by the grace of God, obtained his additional insurance was to pay for THIS program. And why is this such a big deal? Because Mark’s program costs $1,500 per WEEK. That’s $6,000 per month. Yeah…

When I received the phone call from Kennedy Krieger I was under the assumption that it was the billing office responding to my desperate email regarding his account, but instead it was the neurogenetics department offering us some other news…

After we wrapped our heads around the genetic mutation situation, I resumed my insurance coverage battle. I was armed with written communication to demonstrate that the speech program should be covered, that I was unaware of a prior authorization needed and my insurance information was submitted well in advance of his program’s start date. Then I received an email that simply stated that Kennedy Krieger is working with Care First to remedy the situation. There was a system wide issue with Care First’s prior authorization service and that regardless of the outcome, if they would be able to resubmit the claim or not, we would not be responsible for anything beyond our copay. I won one! Finally, I was thrown a bone, and oh how appreciative I am of that bone.

Praise the Lord! 🙂

Many people who read my previous blog post were surprised at how much I blamed myself for Mark’s autism, and while Ike may not share the same level of “mama guilt”, he can understand what causes me to feel such a deep sense of responsibility. We are constantly having appointments. I mean weekly. Our challenge is to find the most effective interventions for Mark’s unique and complex needs. Mark’s team is made up of over 30 professionals.

Two developmental pediatricians, one that specializes in biomedical/functional medicine (diet, supplements, etc.)

General pediatrician

Neurogeneticist

Two audiologists

Ear, Nose & Throat physician

Pediatric ENT

Pediatric Gastroenterologist 

Developmental Optometrist

Pediatric Ophthalmologist

Pediatric dentist specializing in children with special needs

Dermatologist

Chiropractor

Genetic Counselor

Social Worker

Two Physical Therapists

Four Occupational Therapists

Four speech pathologists

Music Therapist

Special Education Teacher

Two Applied Behavior Analysis therapists (ABA)

And a partridge in a pear tree…

I need to find some economical Christmas presents for these amazing people

And as part of these appointments I have to fill out intake forms and evaluations. Most new patient forms are at least ten pages in length and inquire about every detail of our life, particularly my choices made before, during and after my pregnancy with Mark. What medications did I take, what interventions were used during labor and delivery, questions about nursing, infancy, and the list goes on. I swear I have PTSD surrounding his birth, it’s so vivid because I constantly have to relive it. And the questions, which are typically not discussed with us during each appointment, begin to subliminally send the message “you did something, something happened to cause this”.

When I read a news article about a new study linking something to autism, I evaluate whether or not that was a factor for us. I recently read a story about sonograms and their excessive use in relation to the uptick in autism cases. I think about it, and realize I had three with Mark, and I can feel a pit in my stomach. Scenarios like this repeat constantly. Though I enjoy the hunt for new information, the studies can often wear on me since the subject is so emotionally raw.

We frequent a lot of physician’s offices, and thus we critique the decor. 🙂

Autism is such a mystery. So many caring people are trying desperately to identify the causes. I have listened to podcast after podcast, read book after book, and so many variables have been considered. The old theory of cold or “refrigerator mothers” has obviously been dis-proven, but things like additives and chemicals in food, electromagnetic field exposure, medications, and even the controversial topic of vaccines continues to swirl around. So when we found out Mark’s issues all stem from a genetic mutation that wasn’t caused by me, I took the deep breath I had been holding for the last several months.

We have been waiting for several months for the results of our genetic testing, and our big appointment is on September 8th, the appointment where we find out if the geneticists at Kennedy Krieger found anything from the Whole Exome Sequence . Yet out of the blue I received a phone call this morning from Sonal, our genetic counselor and Dr. Naidu from the Neurogenetics division of Kennedy Krieger. They had the results back a month early and wanted to review them with us. Here’s an excerpt from our communication note:

Mark was found to have a missense mutation in a gene called SCN2A. This is a gene that provides the instructions to make a subunit of neuronal sodium channel. This gene plays a very large role in the brain and is responsible for mediating normal neuronal firing and regulating the sodium channels. There have been many other children who have been reported to have the gene mutation, and it primarily known as the gene in which mutations cause various epilepsy syndromes.

Although this is true, de novo mutations (meaning not inherited from either parent) in this gene have been reported in association with autism spectrum disorders, intellectual disability, and developmental delays. Thus, this is definitely our answer in regards to the underlying cause for Mark…

Well there’s a first. Mark’s labs produced a definite answer.

I’ve shared this news with a few family members and my co workers, given how quickly I left work this afternoon. Everyone’s main question seems to center around Mark’s prognosis. Unfortunately, though we know the cause of Mark’s autism spectrum diagnosis, it doesn’t tell us much about the future, or his trajectory. According to Dr. Naidu, the course that we are on with diet and therapy doesn’t need to change. What we are doing is not harming him, and can only help. Though at this point there are no gene therapies, cures or treatments available, that doesn’t mean that there won’t be in a few years with more research. With or without a potential research breakthrough, I feel hopeful that Mark will make improvements. I’m thankful that he hasn’t experienced a seizure thus far, and I pray he never does.

The trouble is this gene mutation is relatively rare and currently Kennedy Krieger only has one other patient in their database with it, and her condition is further complicated by other gene mutations, making her condition much more severe. There is a database of families with gene mutations linked to autism and I plan to further explore this to see if I can connect with other families.

My biggest prayer request would be that God would protect Mark from serious illness so we could avoid a potential febrile seizure. The doctors want us to be super vigilant, keeping him home from school and daycare when other children are sick, avoiding crowded places, and seeking immediate medical treatment for less serious illnesses to avoid fever and complications.

It’s possible that Mark will catch up significantly, though it’s doubtful that he will ever be 100%, per Sonal’s earlier conversation with me. She said that children have made great strides, going further than they ever expected based on their genetic map, so again who knows, Mark could be a trailblazer.

I’ve done a significant amount of research with regard to autism, and the more articles, books and podcasts that I soaked up, the more I felt responsible for his diagnosis. The flu shot I got, the foods I ate or didn’t eat, the antibiotics he received through my breast milk, choices I made, big and small. It all left me feeling like I held the key. Now I feel a significant sense of peace knowing that I did nothing to cause this. It was a random occurrence that was not influenced by anything I did or didn’t do. Though the tremendous amount of guilt that I’ve been carrying around has been somewhat lifted, the challenge of working against genetics is daunting. “Recovering” Mark seems less feasible when his genes say something different, but I’m up for the challenge, bring it 🙂

Have I not commanded you? Be strong and courageous. Do not be frightened, and do not be dismayed, for the Lord your God is with you wherever you go. Joshua 1:9