Daughter with Microcephaly

[BrandiCanucks]

Hi there,

I am the proud mommy to a 3-year-old girl, Zoe, with microcephaly, seizures, global developmental delay, and undiagnosed genetic condition. Her MRI suggests a metabolic disorder, one that is eating away at the matter in her brain.

Developmentally, she is 18 months old, but we don't know how she will develop in the future.

Her website is www.zoemeszaros.com

 

[Lottie86]

Just wanted to say hi

Can I ask a question please. Has her head circumference always been small or has it just failed to progress at the expected rate? (ie as a younger child was her head always below the lines or was it 'ok' up to a certain age and then has dropped off?)

 

[BrandiCanucks]

She was born with a normal head circumference in the 25th percentile, but growth had slowed by 8 weeks old. Her current head circumference is 44.3cm, which is equal to that of a 14-month-old of her height and weight. Her brother, who is 20 months younger than she is, has a head circumference that is 4cm larger than hers.

What is your son's chromosomal disorder? My daughter just had microarray done which came back negative for chromosomal abnormalities, but her geneticist thinks there is a specific chromosome deletion that she may have, and her deletion may be so small, the microarray didn't pick it up. We are entering more testing for mitochondrial disorders and looking into RNA sequencing to see if she does, in fact, have the chromosome deletion.

 

[Lottie86]

Findlay has a duplication on part of chromosome 12q. He has got very delayed development (can't sit unaided, crawl, walk, talk etc), his stomach and bowels don't work properly without lots of medication, floppy muscle tone (which caused *horrendous* GORD which required surgery), failure to thrive, seizures, possible vision problem etc.

He was weighed/measured yesterday and is 13lb 1oz, 68cm and has a HC of 43cm.

At birth he was 5lb 7oz (just above 50% line for his gestation), 49cm and HC of 32cm (on 50% line for gestation).

 

[BrandiCanucks]

There's a family in my micro support group whose daughter was just diagnosed with something involved 12q, and I remember them saying they were the first. I wonder if it is the same family.

 

[Emmea12uk]

Can I ask what microcephaly is? I thought I new all about brain disorders.

And I just wanted to give you a hug.