Ilona is a very friendly, affectionate, happy little girl who can make the grumpiest person smile with joy, just like her all her PACS1 cousins. She absolutely LOVES music – dancing, “drumming” to the beat, acting out nursery rhymes etc. She also enjoys going on the park swings and painting.
As with all of life’s lovely miracles, however, there were and still are challenges to overcome.
Ilona was born in October 2011 by planned C-section without any complications during pregnancy. Immediately after birth, the attending doctor had her tested for Down Syndrome due to her facial features and the creases on her palms. The results came back negative and she came home.
Soon after, we noticed that she was smaller than average and had trouble gaining weight as she was too weak to breastfeed. She also didn’t want to reach for toys or touch anything, and held her closed fists up to her shoulders to avoid any contact with “strange” surfaces.
By seven months, she hadn’t hit any of her milestones (such as rolling to her side or tummy) and barely held her head up with difficulty. Her head was much larger in proportion to her body, and we thought that might be why she was behind.
She was diagnosed with excess fluid in her head, but it didn’t need to be drained as there were no blockages. They decided it was inherited (her Dad has a large head too!) and wanted to test for pressure on her optic nerve. That’s when we found out she needed glasses.
The roller coaster ride started.
Ilona started going to a number of therapies was tested for a wide range of genetic and neurological conditions.
By her first birthday, she had a team of specialist doctors and therapists including: neurologist, neurosurgeon, audiologist, clinical, geneticist, metabolic, geneticist, nutritionist, ophthalmologist, developmental pediatrician, adele-suit therapist, cardiologist, speech & feeding therapist, osteopath, hematologist, orthotician, occupational therapist, physio therapist, naturopath, and a cranio-sacral therapist.
Ilona was poked, prodded, and tested over and over. MRIs, Xrays, dozens of samples, Fragile X, FTT, neutraphillia, Angelman’s, Rett’s, William’s and several more. The results were all “normal, but not quite… and we don’t know why…”
As each test came back negative, we sighed with relief and thought she was just taking her own time. Then she had her first seizure at 15 months. Until then, a large number of conditions were not tested because seizures were a primary symptom. Even those came back “normal… but…”
We realized then that this was uncharted territory for the medical community and we had to take charge of her diagnosis and treatment. After switching out some specialists and replacing them with others, right after her second birthday, she finally got into a research program at Sick KidsHospital in Toronto for whole genome sequencing. The study looks at all 20-25,000 human genes, as opposed to the previous tests where they look at smaller sub set.
Eight months later we had an answer. She had a mutation in the PACS1 gene, the first case in Canada, and maybe the third known case in the world. Through Facebook we found other families of children with the PACS1 mutation, and our little community is about 20-strong as of March 2015.
In addition, she was recently labeled with “high concern” for “moderate to severe ASD” – which in our case is a good thing because she will be able to access even more services that will help her grow as independent as she can.
With continued therapies, Ilona is making progress every day, slowly but surely. She started crawling at two, and by three she could walk with the help of orthotics and a walker. She said her first words (UP! and KICK!) at 39 months and is becoming quite the chatterbox!