Very few people can say that they have walked in the shoes I wear...

I wrote this on my facebook page last year about this time...I think it deserves a re-post on my blog.

 

My daughter was born with cri du chat syndrome. I delivered her, I watched her turn blue. I sat through all of the geneticist appointments, the GI appointments, the neurology appointments. I went to all of the therapists and all of the doctors, all the medical professionals...I have never missed an IEP, an IPP, a DHS meeting or an evaluation. I did not walk out on her during her diagnosis. I have been with her ever step of the way. I have fed her, taken her to the dentist, sat in the waiting room during surgery. I witnessed that first cat cry...her first ear infection, her first bout with constipation. I have made sure that she has had everything that she has needed for the last 8 years....YES, I have needed a break at times but I have taken it when everything else had been done. I do not sit, I sometimes do not sleep...I do not wait until the last minute to bring her to the doctors or get her treatment. I AM HER ADVOCATE AND HER MOTHER!!!!!!

I believe that the more people around to love her the better. I relish the opportunity for her to meet people and touch their lives as she touches mine every day...I will not push new people or opportunities away. I thank GOD for the respite and assistance that I receive in order to be able to care for her, revitalize myself and be a wonderful mother for her.

If you do not know about her disorder because you have just come into her life, take the time to read and learn. She will forever suffer from constipation...Because she has it does not constitute neglect on my part. She will forever struggle with severe behavioral issues...Because she has them does not constitute neglect on my part. She will always struggle with instability and clumsiness...BECAUSE SHE HAS A SEVERE GENETIC DISORDER.

I have experienced things within the last 8 years that most can only imagine...I would hope that you would sympathize rather than judge me. I have entered a land that I had never thought to go...I have come out changed, for the better.

No one can make me question what I have done and what I do every day in order to support and raise my disabled child, nor can they make me question the way I raise my two normal developing children.

You can call me a lot of things but a negligent mother is NOT ONE OF THEM...and never will be.

If you care to learn more about her disorder, read below...or just ask me...I have become somewhat of an expert in the last 8 years.

History: The following may be noted in patients with cri-du-chat syndrome:

Characteristic cry: Subtle dysmorphism with neonatal complications and a high-pitched cry typically prompt diagnostic evaluation using cytogenetic studies. Many infants with cri-du-chat syndrome have this distinctive cry, but it is not associated with other aneuploidies. About one third of children no longer exhibit the catlike cry by age 2 years.

Developmental history: Early feeding problems are present because of swallowing difficulties; poor suck; failure to thrive; early ear infections; and severe cognitive, speech, and motor delays. Almost all affected individuals have these problems.

Behavioral history: Behavioral profile includes hyperactivity, aggression, tantrums, stereotypic and self-injurious behavior, repetitive movements, hypersensitivity to sound, clumsiness, and obsessive attachments to objects. Some of these problems are more pronounced in individuals with lower cognitive-adaptive levels and with histories of previous medication trials.

Features similar to those of autism and social withdrawal may be more characteristic of individuals who have a 5p deletion due to an unbalanced segregation of a parental translocation. However, children with cri-du-chat syndrome are able to communicate their needs, socially interact with others, and have some degree of mobility.

Cornish and Pigram consider an auditory behavioral phenotype, hyperacusis, as a characteristic trait. 6 Hyperacusis is a condition characterized by a hypersensitivity to sound, which causes auditory discomfort, and is reported to be one of the main characteristics of the syndrome.

Childhood findings include the following:
Severe mental retardation
Developmental delay
Microcephaly
Hypertonicity
Premature graying of the hair
Small, narrow, and often asymmetric face
Dropped-jaw, open-mouth expression secondary to facial laxity
Short philtrum
Malocclusion of the teeth
Scoliosis
Short third-fifth metacarpals
Children with cri-du-chat syndrome also have chronic medical problems such as upper respiratory tract infections, otitis media, severe constipation, and hyperactivity.