BiographyEllè was one of a set of identical twins. At our 12 week scan it was noted that we had selective growth restriction and this meant that one twin (Ellè) was taking more nutrients/blood flow than her sister. We were monitored closely but unfortunately at 16+4 we lost Ellè's sister. Protocol was that once you had lost a twin you would need weekly ultrasounds for 6 weeks & then an MRI. Our weekly ultrasounds were looking good just Ellè's head measurements were on the small side. Consultants were confident Ellè was going to be fine. We had an MRI at 23 weeks and Ellè was too wriggly so repeated at 25 weeks. Two weeks later we were called in to meet with a neurosurgeon who explained Ellè's brain had not formed properly. She had severely enlarged ventricles (fluid on the brain), her brain was very small and its anatomy was abnormal. As a consequence of this Ellè would be disabled and in later life require 24 hours care.
We continued with regular ultrasounds that began to show how large Ellè's ventricles were getting and on the percentiles Ellè's head was very small (microcephaly). They weren’t sure if Ellè would survive after birth at one point. At 37+3 Ellè entered this world via C-section, she came out screaming and didn’t even need NICU against all the odds.
We took Ellè home and the first few weeks were good until we noticed Ellè did a lot of abnormal shaking movements and we ended up in A&E The nurse then noticed Ellè stares blankly and she was rushed for CT & MRI. We then met Ellè's neurologist and Ellè was diagnosed with spastic diplegia, left hemiparesis and dystonia. Ellè's neurologist was shocked at how well Ellè was doing compared to her brain scans. We are still unsure of why Ellè's brain is the way it is, her neurologist has put Ellè forward for whole genome sequencing so we are awaiting the results of this.
At 9 months old Ellè started with epileptic spasms and began anti-epileptics.
Feeding has always been a huge issue, as a baby she was constantly sick and when we went to wean her this was a real struggle. Ellè was then diagnosed with dysphagia. We began to really struggle from about 14 months old, she’d not eat much, not drink much and was constantly sick so at 18 months had her NG tube fitted.
A barium swallow shown gastric dysmotility this meant that her stomach was not emptying how it should. Ellè didn’t do very well with the NG and she had a gastrostomy fitted. Again Ellè didn’t do well with this she was constantly sick, not tolerating feeds, losing weight and began to sound really chesty. We believed this was down to her severe GORD. Ellè then had a fundoplication and GJ placed. Ellè has been thriving since the GJ and the fundoplication.
Ellè takes medication daily to help control her muscle spasms, dystonia and reflux and to help her stomach empty. She also takes anti-epileptics, medication to help with constipation and to help her sleep too.
Ellè is now 3 and loves life, she takes it all in her stride. Ellè is currently non-verbal and doesn’t have any effective communication. She can shuffle along the floor, loves to fill and empty her toy truck and my kitchen drawers! Ellè currently scores under 12 months in all her developmental areas. She never lets things keep her down for long or anything get in her way. She’s the most determined and sassy little soul.
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