My pregnancy with my daughter was just like any other with morning sickness and cravings. It all changed at 36 weeks pregnant. I went for a routine check-up with my private obstetrician who did a quick ultrasound. She picked up that the baby’s head was already at 40 weeks and it looked like it had excess fluid on her brain. I was sent immediately back to the ultrasound clinic for a more detailed scan. At this point they completed an amniocentesis (which had no findings), sat my husband and I down explaining that there was an issue with her brain. We were told a range of outcomes from hydrocephalus to the possible death of our baby during birth due to the pressure on the brain. I was closely monitored and at 38 weeks I went in for a planned caesarean with a number of specialist on hand for my baby.
I gave birth to a little girl Imogen who came our looking normal for hydrocephalus and had high Apgar scores. She was sent straight to intensive care for further testing. Later that evening I was surprised when she was returned to my room but this was short lived when she stopped breathing and was placed back in NICU for 8 days. The size of her head was too big for her neck to hold up, its kept cutting off her breathing so she was placed in a special position and monitored. They then did an MRI on her brain. They found she had a number of brain conditions. She has hydrocephalus and needed a shunt to release the blocked fluid on the brain, Corpus callosum hypoplasia with ventriculomegaly, Plagiocephaly (left), Colpocehaly, Hypoplasia of the septum pellucidum and the cerebellar vermis, plus Polymicrogyria.
At nine days old we were discharged. She wouldn’t feed from me which I later found was due to her low muscle tone so I expressed as long as I could. At 8 weeks old she was sent in for brain surgery to have a VP shunt to drain the fluid off her brain into her stomach. This malfunctioned and she went back in again at 12 weeks of age. Time progressed and we started to notice she wasn’t hitting her milestones. About 4 months old I was at my grandparent’s house and she had what I thought all along was bad reflux so contacted her paediatrician. I was told she was having a seizure and to call the ambulance immediately. Imogen then had an EEG which showed she had epilepsy, so her paediatrician recommended genetic testing to see if there was a reason behind all these issues. She was found to have a 6q25.3 quarter deletion (missing chromosome 6q25.3, 26 & 27). Her chromosome abnormality is completely spontaneous, not inherited from either of us & they estimate that only 40 people in the world have this genetic condition but each has different health issues as a result. No two are the same. The geneticists really couldn’t tell us anything about her condition or prediction on life or health. We walked out with a cause but no idea to go from there.
When she was about 6 months her epilepsy got really bad, up to 50 seizures a day. It saw her stop breathing on numerous occasions and we spent nearly every fortnight at the hospital. We had a few horrible few years and nearly lost her many times. Once the correct epilepsy medication combination was found Imogen started to develop.
On her first birthday she began crawling and blabbering, and about 20 months old when she took her first steps. She had difficulty chewing and swallowing until about four years of age. This was due to a high palate and oral sensitivities. She has some dysmorphic characteristics, a sacral dimple. Her eyes have small nerve endings, esotropia and has Strabismus. The parts of the gene that Imogen is missing are also related to your immune system so Imogen has a very low Immunity. Recent testing due to issues with her legs and balance have the doctors also believing that she may have ataxic cerebral palsy but we are still continuing down that path.
Imogen is classed in the severe developmental disability range. She is classed as severely delayed for cognitive, language and motor skills. At 4 years of age she was diagnosed as Autistic. She also has sensory modulation disorder- sensory defensiveness.
On her fifth birthday Imogen began at a special needs school and has since blossomed. At 6 she had another shunt malfunction which required another surgery and has been in and out of hospital for seizures and falls due to issues with her legs. Now at 7 we can’t get Imogen to stop talking, she has an amazing memory, loves numbers, letters and signing, especially The Wiggles. She is such a bubbly child and even wakes from a seizure smiling and asking for tickles. It has been a really hard road but things are improving as we learn more about her. I also have a 4 year old son with Autism and apraxia, but that’s another story!