Cri du Chat Awareness week 2018 (Day 6)

Celebrating my daughter the artist!

I remember very clearly the day Emily was diagnosed.

The grim diagnosis, the speech we received. Your daughter will never walk, never talk, she will be in a wheelchair, fed by tube in her own world. She will not recognize you, she will not understand you and show emotions.

Let that sink in for a moment. I was 24 years old and the genetic counselors looked at me like my life was over.

This was 1999, the majority of the information available said the same thing, I also found some information saying that my daughter’s life expectancy was shorter due to various other possible health complications.

We were devastated but Emily was already 15 months old and I knew she knew us.

I held on to that knowledge with all I had and believed she had a potential. We were ready to do everything possible to give her, her best life.

I was ready for the worst case scenario but had a feeling it wouldn’t be quite like that.

So today, I am celebrating, Emily, the artist!

She was never afraid to get dirty!

She paints!

on canvas and on glass!she is also quite interested in pottery!

Not just the painting of pottery, she is making some cool items too!

My girl is an artist!

Emily has turned her passion for art into 2 incredible opportunities.

Once a week, she goes to a pottery studio in town where she cleans and organizes their equipment in exchange for studio time and the owners help in developing her skills.

She met the owners during her school coop last year and they were happy to expand on the relationship. Emily is dropped there by her support worker and I pick her up at the end of her shift.

Emily also volunteers at a local Boys and Girls club, once a week. She is responsible for a craft activity for kids around the age of 6. She now has 7 regular students. Emily’s support worker stays with her for this and helps her pick the craft and organize the activity.

I am very proud of her and we will continue to seek opportunities like this for her!

When she paints or does pottery, her focus is phenomenal!

Her fine motor skills continue to improve as she continues to work on them…

And she’s still not worried about getting dirty!

This is only a fragment of Emily’s story and I’m so glad to be a part of it!

If you haven’t had a chance yet, please go see her Facebook page, if you like it, please hit that like button and share it with your contacts, friends and family.

Emily’s Hopes and Dreams

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