Learning New Diagnoses
I love learning, so, when I child presents with a diagnosis I have not dealt with before I rub my hands together and dig in. One of those diagnoses years ago was Rett Syndrome. It is one of those infrequent rare disorders that some school nurses may never see, or they only see one or two over the length of their tenure.
In my case it’s been many years since I took care of a child with Rett Syndrome in our preschool. We had two children within a 5-year span from one to the other and since then? Nothing. Nary another. It happens in about 1 in 10,000 female births and is even rarer in male births. It is a neurodivergent and developmental disorder that can have mild to severe symptoms.
The impact of the diagnosis on the family can be tremendous. Since I work in a preschool, we often have parents that are dealing with newly diagnosed disorders. This must be taken into consideration when working with the child. The parents may be in denial, they may seem anger and out of sorts every time you contact them. Don’t personalize the anger. It really is not about you. I have one nurse that takes every bit of anger that comes her way and immediately feels like it is something she did wrong. It’s not about you.
The first child I met with the condition was so darn cute. She was a three-year-old who had been progressing typically through milestones. Initially progression halted around 12-months-old then her parents started seeing a decline. First a loss of muscle tone, then the few words she was saying started to drop off. When she entered program was no longer mobile, non-verbal and the parents had been told to expect her lifespan to be shortened. Every child presents differently. It is a disorder that may be mild, but it might also be severe. In our little one’s case, it was severe.
When writing a school health care plan keep in mind the impacts of the child’s symptoms and complications related to Rett Syndrome.
Symptoms which include:
Rate of growth and development
Loss of speech
Loss of coordination and movement
Loss of purposeful use of hands
Unusual hand movements
Unusual eye movements
Breathing problems
Irritability and crying
Other odd behaviors, such as: Long bouts of laughter, hand licking, grasping hair or clothing
Seizures
Scoliosis
Irregular heartbeat
Sleep disturbances
Decreased response to painful stimuli
Problems with bowel function
Complications of Rett Syndrome include:
Sleep problems that cause significant sleep problems for the whole family
Difficulty eating leading to poor nutrition
Delays in growth and development
Bowel and bladder problems, such as: constipation, GERD, bowel/bladder incontinence, gallbladder disease
Pain that may accompany problems, such as: GI issues, bone fractures
Muscle, bone, joint issues
Anxiety and problem behavior that may hinder socialization
The need for lifelong care, assistance with ADLs
Shortened life span
As you can see, many of the complications can be worked into nursing diagnoses:
Alterations in Nutrition related to unusual hand movements and a reduction in purposeful movement
Alterations in Skin Integrity increasing the risk of infection and decreased mobility
Potential risk of Infections related to decreased mobility There are more to be pulled from what you know about the syndrome. Now it’s your turn to build on this. The two children I worked with were adorable, however, keep in mind this is a challenging path the family is on. Watching a child losing skills is so very hard for parents and it takes a toll on the whole family.