Illyana would have to be one of the sweetest, most genuine and kindest children you will meet. She is resilient, brave and has more courage in her delicate little finger than I do in my whole spirit. She is entirely remarkable.
She also has some impressive credentials against her name:
PTLS
Level 3 Autism
PEJ FED & nil by mouth
Chronic Aspiration pneumonia
Femoral torsion, bilat
Hearing loss, bilat
Non-Verbal
Severe intellectual disability
Poor tone
Gastroparesis
Severe dysphagia
Newly discovered and yet to be treated Obstructive Sleep Apnea
Intractable Epilepsy, generalized seizure disorder.
Many other issues, but who has the time to worry about those!
Illyana has Potocki – Lupski (PTLS) syndrome which is a genetic condition born from a partial duplication of chromosome 17. This happened at the point of the first cell dividing at conception. I was told it was a rare genetic abnormality and that I couldn’t have done anything to prevent it. I remember I met with a genetic counselor who had a role in meeting with parents/carers post diagnosis. She sat on the edge of her chair, fully engaged with me, using her hands to express herself as she spoke.
“I just want to reiterate.” She gently said. “That this isn’t your fault, you didn’t cause this.”
She said it like it mattered. I remember being struck by the genuineness that was spilling out from her. Like perhaps she had encountered parents that felt they were responsible for their child’s disability. I looked away, and dipped my head. “Thank you, thank you.” I said.
Illyana also has a chronic seizure disorder. This has been responsible for some permanent and persistent brain injuries. She has lost the ability to talk, eat, drink, use her hands for sign language, and has had permanent damage to big muscle groups in her legs, causing stroke like weaknesses, especially on her left side. Epilepsy is dangerous and unpredictable. Illyana has had thousands of seizures over the years, maybe even more. She has seizures from standing, resulting in head injuries and trips in ambulances. She has seizures in her sleep resulting in her losing her airway and developing aspiration pneumonias. She has had seizures in the shower.
She was knocked unconscious recently, as she fell from her shower commode, during a seizure. The support worker desperately tried to grab her to break her fall but Illyana had shampoo in her hair making her little body unbearably slippery and unable to be caught. I heard the commotion and found Illyana knocked out cold on the tiles, her convulsing body covering the drain, as the water from the shower started to fill the floor space. The support worker crouched beside her holding her head up out of the water, unable to reach the tap to shut the water off, getting drenched herself.
A wretched, heartbreaking sight, that little can prepare you for. I turned the water off and calling 000, dragging her little body to safety, attempting to consol the support worker at the same time. Illyana started vomiting from the concussion, with me handing the phone to the support worker as I desperately tried to maintain a patent airway and clear her mouth of secretions.
“I tried.” The support worker sobbed. “I tried so hard to catch her. I’m so so sorry.” Crying into her hands. The desperation in her voice rang in my ears long after the event. It’s a cruel life at times.
Epilepsy tried again to steal my child again, the little vengeful bastard.
Illyana doesn’t eat or drink either, which is a really hard to compute concept for most people. She is fed into her bowel and she lives exclusively off a very specialized formula. We needed her stomach bypassed as she would just vomit constantly. She has a type of paralysis in her stomach so the formula that she is fed doesn’t move through her system, it just sits there and pools until she brings it all back up. Her little tummy doesn’t have the natural peristaltic action that pushes the contents of the stomach down.
She is also a huge aspiration risk. Aspirating is when you breathe fluids or solids into your lungs, the problem being that your lungs aren’t designed for that. The lungs try to reabsorb the contents but mostly it turns infective and becomes pneumonia, which can be devastating. If it happens regularly it can scar a person’s lungs and they can have long term effects.
So for Illyana, the bowel is the safest place for her to be fed. Feeding into the bowel, or the jejunum requires a significant sterile style set up to ensure there are no bugs introduced in it. The bowel does not have the same protective acids that the stomach does. Managing the tube is very difficult too as well. It can only be changed by specialists in an interventional radiology suite. This needs to be done every three months, which is obviously a big effort to organize.
A lot of people don’t really understand me fully when I say she doesn’t eat or drink anything, simply because eating, drinking, tasting, putting things into our mouth is categorically an entirely human act. It’s something we do without thinking, wondering, without ever questioning why or how or if it’s going to hurt you.
“Oh does she get to taste anything or drink?”
“No.” I’d reply, “She can’t really swallow.”
“What nothing?” shocked faces. “Not ever?”
“No, not ever.”
When Illyana was born I was young, inexperienced and I had not encountered disability so closely before. In fact, I knew nothing about disability at all. I had never been around it and I had never seen it. I didn’t know anything about nursing or being a carer. I was from a destructive and profoundly dysfunctional home. I have done my best with the skills I had, grabbing hold of everything I could along the way.
