Cri du Chat Awareness 2018 (Day 7)

My girl the athlete!

4 words I didn’t thing I would ever say when we started on this journey!

So today, I’m not speaking of limitations, today, I am showing possibilities!

Fishing

Swimming

Playing baseball

Horseback riding

Walking on the beach!

Playing on outdoor exercise equipmentMeeting an Olympian

Completing a 5km walk

Playing a game I can’t remember the name of…Playing mini golfMeeting a Dolphin Stretching

Still fishing! She’s her father’s daughter! SailingCheerleading

Emily knows no limitations!

Her activities are adapted to her which means the possibilities are endless!

Emily’s syndrome doesn’t define her!

Find more about about Cri du Chat syndrome at 5p- Society

Emily has a her own page in the family stories , you can find it here: Emily

If you want short updates and timely pictures of the little things that are happening in our life, please like and follow Lessons from my daughter‘s page on Facebook.

You can also find me on Twitter at @plebrass

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Cri du Chat Awareness Week 2018 (Day 4)

By now, I hope you have clicked on the 5P-Society link at the bottom of my posts, if you haven’t had a chance to, here is the link 5p- Society.

Meanwhile, just in case you still haven’t clicked, here is one of the FAQs

Diagnosis

How is Cri du Chat Syndrome diagnosed?

Cri du Chat syndrome is diagnosed by a blood test that is put through a full genetic testing.

There are various tests that can be used to determine if your child has Cri du Chat Syndrome.  The first is a simple Chromosome Analysis also known as a Karyotype.

The Karyotype will map our your chromosomes and will let you know if something is missing (or added).  An example of a karyotype for Cri du Chat Syndrome would be:  46,xx,del5p14.2.  To translate this it would be as follows:  the number “46” means that you have 46 chromosomes (23 pair); “xx” in this case means it is a girl with two “x” chromosomes (a boy would be “xy”); del5p indicates that there is a deletion on the 5th chromosome, “p” arm.  A chromosome consists of a “p” or short arm and a “q” or long arm and then the centromere which is in the area where the “p” and “q” connect.  Next the 14.2 is the location on the “p” arm that the deletion has occurred.

Another test that is being used is called FISH testing.

FISH stands for fluorescence in situ hybridisation. This test looks for gene changes in cells. Genes make up your DNA and control everything the cell does, including when it grows and reproduces. FISH tests look for specific genes or parts of genes.  The FISH test can also be used when providing a diagnosis for Cri du Chat Syndrome and may provide a very similar karyotype as above.

A third test, and also the newest testing that families are seeing done with their children, is called Chromosome Microarray Analysis.

A Microarray analysis is a DNA-based method of genetic analysis, used to identify significant chromosome abnormalities.  The way it works is a DNA sample is prepared and hybridized to a glass slide.  Then a large number of molecular probes are arrayed.  The probes have small segments of DNA from the patient and are compared to a control DNA.  This type of analysis is able to diagnose deletions and duplications of whole chromosomes, portions of chromosomes, and specific locations.  A chromosome analysis from a Microarray will have more information on it and will provide you with the exact location of the deletion or duplication.

But regardless of the testing, Emily is not a syndrome.

She is a young lady with dreams and aspirations!

We have a facebook page: If you want short updates and timely pictures of the little things that are happening in our life, please like and follow Lessons from my daughter‘s page.

You can also find me on Twitter at @plebrass