Jessica's story

Jessica was born in 2009, after a relatively normal pregnancy and a natural birth. At 24 hours old, she was admitted to the Neonatal Unit with jaundice and because she was “jittery”. An EEG (a tracing of the electrical activity in the brain) at this point showed that she wasn’t having seizures, but it was commented on as being slightly unusual. However, no-one really knew what that meant, and we were told not to worry.

Jessica had a few health problems as a baby (allergies to dairy & wheat, as well as reflux) which she grew out of by the time she was a year old. She was quite hyper-mobile (really flexible limbs), which professionals said was the reason that she was nearer the latter end of “normal” in reaching all her milestones. She sat at 9 months old, and crawled at 14 months old. She has never pulled to stand, or walked and has only ever said the odd word here and there, although always in context.

 At 14 months old, she was referred to a Neuro-Developmental Consultant, and this was the first time that anyone said they thought she could have learning difficulties, and that she wouldn’t just “catch up”. From here, she was referred to a geneticist. In between these appointments, Jessica went through the regression stage of Rett Syndrome, although it was very subtle and you had to know Jessica very well to notice that anything was amiss. She became slightly more withdrawn when with people outside of her immediate family, and her sleep became even more disrupted than normal; becoming very restless and distressed at night. She began the stereotypical hand movement and to lose the use of her hands, although this was very gradual, and looking back, we can see the hand movement in photographs long before we actually noticed it. We saw the geneticist when Jessica was 23 months old, we mentioned that she was doing a “weird” thing with her hands that was interfering with her crawling and feeding etc. The geneticist didn’t mention Rett Syndrome, and just said she would send off a selection of tests, but didn’t tell us what, and we didn’t ask. However, a few weeks later I got a phone call to say that they had found something, and made an appointment to see us the following week. However, the geneticist gave us enough clues to research it on the internet, and find Rett Syndrome.

That week was the longest and hardest week, but it gave us time to do our research and list our questions. This meant that when we met the geneticist we were more composed than if we had just found out during the appointment, and were therefore able to absorb the information we were given a bit better than otherwise. Now, a year and a half after Jessica was diagnosed, we are still getting our heads around the impact Rett Syndrome is having on Jessica and our family life. However, Jessica herself is actually doing really well and amazing everyone.

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