interview | Lessons from my daughter

When we got Emily’s diagnosis of Cri du chat syndrome, we were told everything she would never do. Walk, talk, feed herself, recognize us, show emotions…

So many things…. Such an overwhelming feeling of sadness.

When babies are diagnosed today, parents are still receiving a similar “talk” from their doctor.

In today’s world, parents of newly diagnosed babies can find a supportive community just by searching Facebook. 🙂

Not long after they find us, they are greeted by Rachel…

Rachel is that one person who instantly lift some of the sadness away…

Today, I am introducing to Rachel. She is an inspiration to all of us and I am sure you will be inspired too.

1. Can you tell me about your family?

I am the oldest of 3 children but then I have 2 stepsisters and 2 stepbrothers. David and Rebecca (siblings) Hannah and Abby (stepsisters) and John and William (stepbrothers) my parents names are Simon and Kathryn and my stepdad’s name is Robert (Robbie) and my stepmum’s name is Andrea.

2. Can you tell me about yourself?

I live in New Zealand on the West Coast of the North Island in a city called Wanganui. I have a mild verison of CDC called mosaicism. I collect elephants, love playing on my gameboy especially playing pokemon games. I won Cri Du Chat superhero of the year for 2014.

3. Can you tell me what a mosaic is?

A mosaic is a person who has some of their cells affected by Cri Du Chat so 30% of my blood cells are affected by Cri Du Chat so not all of my blood cells are affected but don’t know the rest of the percentages throughout my body because they can’t test for those cells. My deletion is 13.1 so which means I am missing 90% of my 5P arm.

4. Can you please tell me a success story?

I live independently away from my parents in a house of my own with a ginger and white cat called Fanta. I volunteer at the YMCA where I help run a playgroup on Tuesday mornings and then I help run a programme called Boogie Buddies it is a fitness programme for 2-5 year olds.

5. What else would you like the world to know?

I am a daughter, sister, person living with a disability, an aunt, a friend, a granddaughter, a niece, a girlfriend, an inspiration, a role model, an adult, was named Cri Du Chat superhero of the year for 2014, I am a cook and a member of society, a cousin, a volunteer and a light in this world, a fur mama to Fanta. I am all of these things and so much more. I have CRI DU CHAT SYNDROME!!!

Thank you Rachel!

You are giving a voice to many of our kids and for that you are a true superhero!

This week, I am introducing you to Caroline and Maxwell.

We haven’t had the chance to meet but I sure hope to have the opportunity to one day.

Hi Caroline, Can you tell me about your family?

Answer: Me and my husband live in London, and we have 18 month old Maxwell who, when he was born, had some complications and was admitted to the special care unit. Maxwell had low blood sugar and breathing difficulties. He was diagnosed with a floppy larynx on day 2. We were in the hospital for a week but it felt like a lifetime. I had complications following an emergency c section and the whole experience was traumatic.

Tell me more about Maxwell

Answer: When we got home we struggled to get over our ordeal and was worried about Maxwell as he still had breathing issues. He couldn’t lay on his back for more than a few seconds so changing him was difficult. We would put him to sleep on his side. Maxwell had some mid line issues so further investigations were to take place. The paediatrician ordered genetic testing but didn’t really explain why. At 5 weeks old Maxwell got ill and was admitted to hospital again with pneumonia. On our second day in the hospital the paediatrician came to tell us hat he had received the test results and that was when Maxwell was diagnosed with CdC. We were devastated and to this day our biggest fear has always been that Maxwell may not grow up mentally and may always be a child. All your hopes and dreams for your child go out the window and you just hope for a smile, some form of communication, a laugh….. We have been very lucky with Maxwell. He is doing so well and is such a happy boy. Always smiling and laughing and his fine motor skills are fantastic. He cannot stand or crawl but he bum shuffles and understands so much more than he can communicate back.

Tell me about therapies

Answer: We have weekly appointments with portage and physio along with regular checks for speech and language, endocrine and paediatricians. It’s hard going but all the hard work we put in is worth it.

Tell me a success story.

Answer: Maxwell signed for sleep recently and is starting to try to talk. We are so proud of him.

Here is Maxwell smiling at Christmas.