This would be a fascinating time to be in medicine! Advances are taking place at warp speed. The genetic testing that revealed Henry had an SCN1B variant didn’t exist when he had his first seizure. Fifteen months after his first seizure, this genetic testing was available and gave us a name for his fight. But, other than a string of letters, what is an SCN1B variant?
I understand SCN1B, but I sound as clear as mud when I try to describe the genetics behind it. So, I’ll call it intractable epilepsy and skip the genetic side of the explanation. Intractable epilepsy is a type of epilepsy that doesn’t respond to anticonvulsants. That’s exactly what we had been seeing in Henry. Despite a rigid medication schedule, he continued to have seizures. Despite attempts at multiple anticonvulsants, he continued to have seizures. The most alarming aspect of intractable epilepsy that continues to concern us is that rescue medication has not been as effective as it should be for Henry, often taking multiple doses to stop grand mals. This one genetic mutation is responsible for every seizure Henry has ever had. There are many triggers, but this one gene is the culprit.
There is no cure for intractable epilepsy, and it is managed with medication. Hello rock. Let me introduce you to hard place. Medicinally treating an epileptic who doesn’t respond to medications is no small feat. When we received Henry’s diagnosis, we asked how this would affect his development. The doctor explained that outcomes vary, and a lot of his development would be directly related to his seizure activity/control. He expected that Henry would need support throughout his lifetime. I asked what he thought developmental progress would look like for Henry, and he gently shared that if Henry wasn’t regressing, that would be considered developmental progress. His prognosis was correct. Henry had already lost his words, and eventually testing showed that Henry has global developmental delays/intellectual delays.
WHAT DOES THAT MEAN FOR HENRY?
-Henry is 7, but cognitively (in some ways) around the age of 1
-He needs 24-hour-a-day supervision
-Henry requires support with all activities of daily living
-Processing information is a struggle
-Sensory issues
-Requires multiple therapies (speech, physical therapy, occupational therapy)
-Rigidity and repetitive behaviors
Through every step of Henry’s diagnosis, leaning into my friendships has been uplifting. Friendships are treasures that I want Henry to experience. Befriending someone who has special needs is worthwhile but can be intimidating. What if I say the wrong thing? What if I do the wrong thing? Building relationships with profoundly delayed children might look a little different, but it’s similar to nurturing any friendship…discover & encourage their passions, appreciate their differences, and be kind. If we get right to the heart of it, everyone wants to be seen, heard, and loved.
HOW CAN I BE A GOOD FRIEND TO HENRY/ (neurodivergent children)?
-Be friendly. Smile or say, “Hi Henry!” He can’t say, “Hi” back, but he loves to hear your hellos!
-Be patient. Henry moves a little slower. It’s okay to slow down when you’re in a line or walking behind him.
-Listen extra close. He communicates in unique ways.
-Be understanding. Henry thinks like a one-year-old so sometimes he behaves like a one-year-old.
-Be forgiving. Henry has a rigid med/nap routine and has to miss/cancel plans sometimes. He still loves his friends, even when it’s from a distance.
-Listen to music with him! Henry’s music is special to him. Sitting and listening to music is one of the most meaningful ways you can connect with him. (This can be less than 5 minutes!)
In the past, I’ve written about staring. Some people stare at us in curiosity, or pity, or disgust. I recently caught myself in a stare and learned there’s another type of stare...one of admiration. I stare in awe at Henry’s friends. I cannot peel my eyes off these selfless, extraordinary human beings…A little girl who slows down at a party to quietly swing with a friend who cannot join in the inflatable fun…A little boy hugging a friend who can’t reciprocate through words or eye contact. Witnessing children who are determined to love and include our son despite the walls his diagnosis could build is breathtaking. Henry is incredibly blessed to have friends who have taken wrecking balls to the barriers of an ugly diagnosis.
A SWEET FRIENDSHIP REFRESHES THE SOUL
~PROVERBS 27:9