Romy, a girl with Mecp2 duplication syndromeBirth Date: March 7, 2001
Parent's Names: Paul and Karen
Siblings: None
Other Affected Family Members: The duplication is 'de novo' -- no other family members are affected.
Date Diagnosed: November 2004: DNA test showed the Mecp2 duplication. July 2010: The duplication is not situated on the X chromosome, as assumed, but on chromosome 3. A small part of chromosome 3 is also duplicated. May 2010: EEG showed Lennox–Gastaut syndrome (LGS), also known as Lennox syndrome. This is a difficult-to-treat form of epilepsy.
The duplication: SNP-array shows 279 kb duplication on the long arm of the X-chromosome in the MECP2-region (including MECP2, OPN1LW, TEX28P2, OPN1NW, TEX28P1, OPN1NW2 and TKTL1). Also a duplication of at least 207 kb was found on the long arm of chromosome 3, band q25.33q26.1. This duplication concerns only one gene: IL12A.
The MECP2 duplication is not situated on the X chromosome, but on chromosome 3, next to the duplication of IL12A.
Development:
0 - 4 months: We had no idea something was wrong with Romy. She was a very happy, healthy baby.
9 months - 8 years: She became a very happy and always smiling little girl. We worked really hard on motor skills and communication. She could crawl, walk with our support or walking device and we communicated on a low level with pictures, and she enjoyed it very much! She couldn't speak, but understood more than we expected. Unfortunately, she was hospitalized several times (pneumonia 18 x, pyelonephritis 2 x, She had surgery for reimplantation of the right urether)
8 years - till now: In May 2009 she had surgery for hip dysplasia and in October 2009 epileptic seizures started. Within 2 1/2 month she had 80 seizures a day and was hospitalized to speed up the search for medication. These two things had such impact, she changed in many ways. Seizures are still not completely under control (still 6 a day) and medication also weakened her and she doesn't really show emotions now. Almost all her motor skills were gone after surgery, and we hope someday, we find the right medication to control the epilepsy (Lennox-Gastaut syndrome), and she can learn to crawl and stand again. But most important: we want to see her smile again!
Therapy:
3 days a week, Romy goes to medical daycare. There she has physio, speech therapy and she swims once a week. They also use buttons you can record a sentence on.
At home we practice with pecs. I've made photo's of things like food, drinks and toys, laminated them and we have a special book with velcro where they all fit in, and on the front you can stick for example two pictures, she can choose from. It was going really well, but seizures ruined so many things! She does still recognize the items, but is not able to point out or get them from the book.
We also do physio exercizes, like on a balance ball. She sits on it and it really helps her straitghten her back and upper body. Once a week we go horse riding with Romy, and also once a week physio. I don't know an english word for it, but Romy also likes 'snoezelen' a lot, a room with all kinds of light effects, like a starry sky, fibre glow, butterflies projected on a wall and rain forest sounds etc. Depending on her mood, it helps her relax, other times she gets interested and activated.
