Supporting people with Cri du Chat Syndrome and their families

Debbie's Story

by Gill Beazley on 04 August 2016

My sister, Debbie, was born in 1963, the year Cri du Chat was discovered, the fourth daughter to Jack and Margaret Beazley. She was diagnosed when she was aged 3 by Dr Penrose at Harperbury Hospital, St Albans and she was the 27th known case in the world. She had a large depletion of her 5th chromosome and at the time the life expectancy for someone with CdC Syndrome was mid-20s. My parents fought for her throughout her life and were involved with the start of the Cri du Chat society.

My parents were told that Debbie would not be able to do anything – would not speak, talk, etc, and they should forget they ever had her and should put her in a hospital. My parents decided otherwise and did all they could to help her. We had a wooden frame made to help her walk and she would spend hours in the garden in the frame. She eventually managed to walk by herself and could do walks of about 3 miles with the family, but always needed encouragement.

She managed to communicate through monosyllabic sounds and would persist with a word until we understood what she meant. Communications could cause problems with those who did not understand her and didn’t have the patience to try and understand, and Debbie could become very frustrated.

From the age of about mid-20’s Debbie moved to live in a house in the community, living in one for about 26 years and then moving to another one in the area about 4 years ago. She made many friends in the area and loved going out to places to meet them.

Unfortunately in her last year Debbie had started what we think was “premature ageing”.  This first showed in hip problem and she began to have difficulties walking. She then had a thyroid problem – being overactive at first, which led to her losing a lot of weight, and about 9 months  later she was diagnosed as having an under-active thyroid. At a routine eye check-up it was found that she had bad cataracts on both eyes that needed treating urgently as she was having problems seeing.  She was then having pain with her teeth and wasn’t able to eat properly and it was found that her gums were in a bad condition and she probably needed filings as well. As this things couldn’t be done under normal conditions she was therefore due to have general anaesthetic to have her teeth done and another for her eyes.

Then she began to get infections and was generally run down which led to her being taken into hospital with a chest infection and intensive care where she was incubated. She had 10 days in intensive care, 5 days on palliative care, and she didn’t regain consciousness. In that time one of my sisters and I were by her bedside while she slowly deteriorated.

It was difficult to lose our little sister and someone who has been such a large part of our family for so long.

If our knowledge and experience with Debbie can be of use to anyone please let us know as we would be willing to help people understand this condition a bit more.