Our beautiful daughter Genevieve (Vivi) was born in London, 2nd January 2006 and diagnosed with MWS in December of the same year.
Her deletion is a mutation c.2441delA in the gene SIP1, also called ZFHX1B.
Ante-natal diagnosis of Tetralogy of Fallots with absent pulmonary valve 16 weeks into pregnancy.
Amnio came back negative.
Uneventful pregnancy followed by 3 day labor, despite being induced.
From day one, very unsettled, crying a lot, refusing to sleep or feed properly and within 6 weeks only taking bottle feeds.
On a positive note her heart condition was thought to be more stable than originally expected.
During first 3 months of her life it became apparent that she was not as other babies........
As a result she was admitted to Great Ormond Street Hospital for a week of tests when she was 5 months old.
Neurology - MRI (no evident narrowing of the corpus collosum)
Genetics - bloods etc
Findings as follows:-
Global developmental delay
Failure to thrive
Delayed visual maturation and Nystagmus
Unusual facial features
And finally the MWS result from France just before Xmas 06.
In October of 06, at 9 months old, Vivi had corrective surgery for her heart at GOSH.
This proved to be more complex than anyone had expected and also resulted in her needing a permanent pacemaker 10 days later due to post operative heart block. Amazingly, she bounced back and we were home after a total of 3 weeks in hospital, with our 'bionic' baby.
Just over 2 months ago prescribed Amiodarone for junctional tachycardia which was interfering with the pacemakers ability to work properly. This appeared to reactivate her silent reflux with the addition of aggressive vomiting, coupled with panic attacks and long periods of manic activity. Changed briefly to Sotalol and from today to Atenolol to hopefully eradicate side effects.
Recently she was in for a catheter balloon dilation procedure, during which a 'stent' was put in to alleviate turbulence caused by a stenosis in the branch of her pulmonary arteries next to the homograft.
Is now also being seen by Gastro unit at GOSH for her continued feeding problems (still no solids at 16 months) with plans for a barium investigation in next 6 weeks. Given the MWS history of Hirschsprungs, Pyloric Stenosis and narrowing of the gullet, we have yet to determine if more invasive biopsies required.
Finally, next month she has an appointment at the Orthopaedic unit at GOSH for her feet.
For her continuing sleep problems, she was prescribed Melatonin 3 weeks ago, which to date has not been very successful.........but we're still hopeful!
Vivi is assigned a team of Community health professionals including consultant pediatrician, speech and language, physio, occupational, dietetics, clinical psychologists and a specialist pediatric dentist. All have been very supportive and a special thanks to our long suffering health visitor, Jane.
Vivi is unable to talk, but appears to understand much and babbles happily and often, we hope to start some basic Makaton to help with her communication. She can sit unsupported but only for very short periods of time and only stands with support. No walking, but is attempting to crawl commando, usually ending up in reverse! She got her first tooth on her first birthday, and to date has 6 with more on the way judging by the amount of drooling!
On a personal note...............
Genevieve is, and always has been, a very boisterous and energetic little girl who loves rough and tumble, especially bouncing.............any kind of bouncing, the more energetic the better! She has a wicked sense of humor (which is only matched by her wrath) and laughs like a drain at the oddest things. Loves to play with her many, many toys and books but has a very short attention span. Loves music, watches far too many music videos and loves Pocoyo and the original Mr Men (discerning taste) She's very inquisitive (or should that be nosey) and loves nothing more than looking at the sky.
Vivi can be an absolute joy and her smiles can melt your heart.
She is loved by grandparents, aunties and uncles to the point of nonsense, who's support is unfailing and more appreciated than they probably know, and she never fails to charm everyone she meets with her blue blue eyes, flame hair and 'butter wouldn't melt' cheeky grin.
No one, however, loves her as much as her Mim and her Dada!
Alette and Duncan Jessen-Killin
(written May 2007)
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