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Points for Reflection

1. Imagine that the parents of a child with special needs in your area are concerned about his/her education. Think about how you could assist them as a healthcare practitioner.

2. In her story Louise says "Next thing, I had an appointment with a consultant. Thinking this was about her "clicky hip", I went along to discover my doctors and health visitor had suspected she had this syndrome."How could Louise’s GP and health visitor have best prepared her for that first appointment with a consultant?

Activities

1. What warning signs or factors might alert a midwife or neonatal nurse to the possibility that a newborn might have a genetic syndrome?

2. Find out what range of symptoms a child with cri du chat syndrome might have.

3. Cri-du-Chat syndrome is associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from a few base pairs to the entire short arm and evidence exists to suggest that the size of the deletion is related to the severity of symptoms. Find out what you can about how the size of the deletion might relate to the range of symptoms.

4. Louise talks about the special educational needs school that her daughter goes to as being “an amazing special needs school which she loves”. Who is responsible for ensuring that the educational placement is appropriate for a child with special need?

5. Louise stresses the importance of parental support groups. Find out what type of support is available in your area and what information could be used to enable parents to find an appropriate group?

6. What information would you give the family about reassurance risk for any future pregnancies? How would you find out this information?

Quotes

"When I first had my daughter, as a new parent, you think what she is going to be like? What will her firsts words be? When will she take her first steps and what school will she go to?"

"After she was diagnosed with cri du chat, it was more a question of will she walk? Will she talk? Will she go to a 'normal 'school? It will be a long time before these questions are answered."

"To improve the care of any family with a child with learning disabilities, what is required is improved communication."

"Tell parents what is going on, so they can mentally prepare themselves and look for support as soon as possible."

"My local GP surgery failed to tell me anything about my daughter and her condition."

Further information

Cri Du Chat Syndrome Support Group

Contact a Familywebsite

US National Library of Medicine, Genetics Home Reference - Cri-du-chat syndrome


Location: The Stories
Transcript

You can download the full transcript here

The need for improved communication: Louise’s story
Cri-du-chat syndrome - a condition caused by a chromosomal abnormality

As a parent of a child with cri du chat syndrome, I had a normal pregnancy, until about two weeks before my due date. When I went for a routine check up in my surgery, they found I had protein in my urine and my blood pressure was a little high, so I was sent into hospital. The hospital did a scan and found my baby to be a little small and not a lot of water around her, so I was transferred to another hospital. I was there for a week when they decided to start my labour only four days before my due date.

Delivery was normal - my baby was 5lbs 15ozs and all was well. The next day, the paediatrician came to check her and found a "clicky hip" - nothing more was mentioned and I was sent home. When she had her injections at two months old, the doctor in the next room heard her crying and unknown to me, suspected she had cri du chat syndrome. In French, this means "cry of the cat" because my daughter’s cries sounded as if cats were fighting. Next thing, I had an appointment with a consultant. Thinking this was about her "clicky hip", I went along to discover my doctors and health visitor had suspected she had this syndrome. This was not only because of the cry but also other features which included a small chin, the bridge of her nose was flat, her ear lobes were low and she had an extra fold of skin on her eyes. Also, she had a skin tag on her cheek and two webbed toes on each foot. After further blood tests, it was confirmed. I was told there was a 1:50,000 chance of this happening.

It changed my life completely. At one time she was under five different consultants, so eventually I had to change my job for more flexibility. My daughter had a turn in her eye so we saw an orthoptic consultant for this. She saw an orthopaedic consultant for her clicky hip, a consultant for her feeding difficulties as she vomited due to a weak reflux, two paediatric consultants for her general needs and any necessary referrals.

When I first had my daughter, as a new parent, you think what she is going to be like? What will her first words be? When will she take her first steps and what school will she go to? After she was diagnosed with cri du chat, it was more a question of: Will she walk? Will she talk? Will she go to a “normal” school? It will be a long time before these questions are answered. My daughter is now five and she cannot walk yet but it won’t be long before she is doing that, as her talking is improving every day and she goes to an amazing special needs school which she loves.

My local GP surgery failed to tell me anything about my daughter and her condition. Even up until now, every NHS staff member I have come across has been excellent. They have provided excellent support emotionally and explained everything that my daughter has been involved in.

One place in particular is a children’s centre in my local area. My daughter was referred to a number of health care professionals such as a dietician, physiotherapist and a portage specialist. If I needed any help or support, they were all there readily available in one place. My daughter also attended playgroup there. I got to meet other parents of children with special needs and there were activities and functions to join in with. Overall it was an excellent source of support.

To improve the care of any family with a child with learning disabilities, what is required is improved communication. Tell parents what is going on, so they can mentally prepare themselves and look for support as soon as possible. The best places I have found support for cri du chat syndrome is through the organisation "Contact a Family" and the Cri du Chat organisation in the UK. Also, if a person comes under the care of a health care professional with a particular diagnosis, read about it and have some knowledge of what it is all about.