Rebecca’s Story

Rebecca was born on the 25 October 2000, weighing 7lb 10oz. It was an absoulate classic pregnancy with no problems. The first thing the midwife said to the nurse was she has a birth mark and sounds like a pig (I was very upset by this obviouly), then they took her away to another hospital 18 miles away (I didn’t get to see her for 9hrs). At the other hospital they said Rebecca had nasal stents implanted because her nasal passage was so narrow due to her birth mark (I of course believed them). We were at the hospital for five weeks, while they taught me to nasal gastric feed. Then we were sent home with a breathing monitor, suction bottles, pumps, and tubes.

After three days Rebecca ripped the stents out of her nose, and we rushed to hospital, to be told she didn’t need them anymore. Rebecca was never a very good eater and only had tiny amounts of milk at a time but very often. She was never a good sleeper (she still isn’t), so I used to sleep when she did.

As time went by I never thought that anything was wrong, just thought she was a little slower at doing things. That was until she was thirteen months when she stopped making any sounds. I was telling health workers there was something wrong but they wouldn’t take any notice ignoring her inability to walk or talk and I described her absencess (which we now know were seizures which shes grown out of), but I kept getting fobbed off as a hysterical mother.

Well by the time she was twenty two months, when she couldn’t talk or walk properly they did an mri scan, and found she has a condition called chiari malformation (which is totally unrelated to 17q) and everyone started saying yeah we have solved the problem aren’t we clever. From that point on Rebecca did not want for any support. Physio therapists, speech and language therapists came to our house for sessions and also vistited her at nursery, I was sent on a makaton course and given makaton dvds and books. When she attended mainstream school she was given her own full time support worker and was also given support at lunch and recess. When she was five Rebeccas geneticist did not believe that Rebeccas condition was caused by her chiari malformation (it turns out she is actually a-symptamatic of the chiari). So he asked if he could do more test.

It actually took nearly two years for us to get the results (I forgot all about it) to say Rebecca has 17q21.31. Rebecca is now 7yrs 5mths and is a very happy child and a total joy to be around. She now attends a very good special needs school who are doing wonders for her. Rebecca is an only child and I am a single mum but neither of us could be happier.

Submitted by Margaret-Rebeccas mom