The test results are in and I am waiting for the geneticist’s discussion on July 11th. But, the discussion page is fairly mortifying. And for that reason, I’ve remained more silent and reserved than I normally am. I pray that the geneticist will dispute or diminish what I am inferring from the page. To be succinct, this is the key piece:
SCN2A VARIANT INFORMATION:
This patient is heterozygous in the SCN2A gene for a sequence variant defined as c.5026A>G, which is
predicted to result in the amino acid substitution p.Ile1676Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0026% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-166245342-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Pathogenic variants in SCN2A have been associated with autosomal dominant developmental and epileptic encephalopathy 11 (OMIM #613721), autosomal dominant benign familial infantile seizures 3 (OMIM #607745), and episodic ataxia type 9 (OMIM #618924). Of note, de novo variants have also been reported in individuals with autism spectrum disorder and developmental delay phenotypes (Chérot et al. 2018. PubMed ID: 28708303; Fitzgerald et al. 2015. PubMed ID: 25533962). A family study of affected and unaffected individuals may clarify the significance of the uncertain variant.
The second paragraph suggests possible presence of:
- autosomal dominant developmental epileptic encephalopathy 11
- autosomal dominant benign infantile seizures 3
- episodic ataxia type 9
- Autism spectrum disorder and,
- developmental delay
While it doesn’t mean I have all of these issues, the results go on to say that the findings should be corroborated with clinical presentation of symptoms to back up the report. As all genetic tests have limits.
I’m going to use the vernacular in the following paragraphs. My apologies. I’m not quite ready to be formal.
The first one “…epileptic encephalopathy 11” fucking sucks. If I’m interpreting it right, I have seizures that fuck my brain permanently. My wife, children and I have held for the last 3-4 years of this disease that I seemed and felt more confused with tasks and I felt like I’ve been loosing my “smarts.”
The second “…infantile…” is evident in the types of spasticity and spasms that wrack my body. IMHO, “infantile” refers to the type of spasm. The contraction of the muscles make my body curl like a startled baby.
“Ataxia…” Shoot, I’ve had severe issues with speaking for over 2 years now. However, there is an effective medication for this.
The last two, ASD and LD, are no-brainers, no insult intended. People close to me have accused me of ASD and I’ve been questioned by several docs if I have ever been diagnosed with Aspberger’s. LD — definitely in the area of socialization issues. I’ve never claimed to be able to function in a crowd. I could tutor 5 kids to the moon. Expand that out to a classroom and then you know why I left teaching. I sucked at the classroom. I wish I could have reached more kids, but the environment was not conducive to me being able to operate.
Not being found in literature? I would have to be unique. I just worry about my kids. I don’t want them to ever experience anything like the last 7 years of my life. Pain in excess of 10 for months at a time is not anything that any human should ever be made to experience. Feeling like you are losing your mind because the docs say one thing that is 180 degrees opposite of what you feel your body is doing, having family members dispute and disbelieve what is happening and a list of other psycho-social ramifications due to the disease; these things should never be experienced by any human.
However, in this journey, I have found new friends. My family list may have significantly decreased, but I have people all around the world (RR, NISSA members, Mother GiGi these are you) that are in my support group. The journey has not been glorious or fabulous. But, I’m here. I will continue to be here. I don’t know in what form, but I will persist.
I want to thank those that continue with me on my journey. And, thank those that have left my journey. Both groups have taught me considerable lessons. I hold no grudge or ill-will against anyone. The emotions surrounding hate and distrust take up too much energy that I don’t have. The fight is against my physiology and psychology. If I have learned anything at all, it is that your pathway shouldn’t be tread over other people. Have God send an emissary. Jesus will carry you through all the darkness. It is a hard path, but it is one that leads to light. Whether you are of any or no faith, follow your heart. Mine tries to lead me to Christ. Yours may lead you to Mohammad or Apollo or to yourself. Cleave yourself to these beliefs and they will get you through some very dark times.
Thanks for reading, In Christ,
Jay C. “Jazzy J” Theriot