Friday, September 7, 2012

An education for others

This weekend has been busy with parties and picnics and at one I became aware of something I have not really thought much about.  A close relative's husband was reading one of Lucy's purple cards that briefly outlines Rett Syndrome, and he said, "Are you serious? This is going to make me cry." My response was like, what are you talking about?! Don't you know what's going on here? Of course it's serious! But he didn't, and still probably doesn't know much, and then it occurred to me that maybe others, even people who are close to us, don't know as much as they should or could.  And I believe it is Chad and I's job to help educate the world, so I wanted to take some time to have an educational post. Most of what I will include will come right from the Rett Syndrome Handbook  (paraphrased) which is sent to all new families that register on the Internatinal Rett Syndrome Foundation's website.

Before writing this I went back and read the post I did the day we had Lucy's appointment with the ill-informed Dr. Coffman. What a shame that he has spent so many years in college, has years of experience as a developmental pediatric neurologist who also specializes in movement and I have learned more in six months about Rett Syndrome than he has apparently learned in his whole career.

Rett Syndrome is caused by a "genetic mutation which occurs at the time of conception. The name of the mutated gene is MECP2"  (pronounced " Meck-pea-two") Less than 1% of the time the mutation is inherited. In that small percentage, the case is that a mother is a carrier and her daughter inherits the mutation from her causing Rett Syndrome. The other 99% of the time the mutations are caused by the sperm randomly mutating. So most of the time, it just happens; to anyone, anywhere, of any race, any ethnicity, and any age.

The mutation of the MECP2 chromosome creates too much or too little of certain enzymes or proteins and that interferes with normal development.

Rett Syndrome effects primarily girls. The symptoms do not start to manifest until 6-18 months of age, so when they are born, there is seldom any evidence of the existence of Rett Syndrome.

In the beginning there is a regression period where the girls begin to lose skills that they may have already acquired, or depending on the point of onset, have been in the process of acquiring. They start to lose their hand functioning to various degrees. They lose their ability to talk, if they had started talking at that point. They might lose their ability to walk if they could walk in the first place.

Many girls are originally diagnosed with hypotonia, which is low muscle tone. Rett Syndrome is in fact the cause of the hypotonia. For the record, hypotonia seldom occurs for no reason. There is generally an underlying cause for it.

The most disabling aspect of Rett Syndrome is a severe apraxia that effects every aspect of functioning in a girl's body.  Apraxia is: "the inability or difficulty to program the body to perform motor movements". The apraxia effects everything the girl with Rett Syndrome tries to do. It is why she might not be able to walk, it is why she cannot talk, cannot make her hands and arms do what she wants, and why she can't even look in the direction she means to at times. The desire to do these things exists within her, but the apraxia is constantly, cruelly getting in her way. Our Rett specialist in New York said that 50% of girls are never able to walk independently which is primarily due to apraxia.

Another fundamental aspect that the apraxia gets in the way of is allowing the girls to let the world know what they know. Until recently, it was believed that the girls effected had significant cognitive impairments. Experts have been working diligently to help us learn ways to let our girls express themselves and to tell us what they know. They are smart and they are in there, even though it can seem as if they are in their own worlds sometimes.

Girls with Rett Syndrome also experience near-constant, repetitive hand movements when they are awake. The Rett Syndrome Handbook describes this as "being done to them", it is not a compulsion, or something that they have any control over. The movements can look like clapping, hand wringing or washing, or even flicking and flapping. The girls may also have problems with mouthing their hands and forearms. Both situations can cause mild to severe skin irritation, not to mention the way it must feel to the girls as their hands only stop moving when they fall asleep. To give the girls some respite from the movements and mouthing, elbow splints are often used which seems to relieve the girls for the times they are on and make them feel more relaxed.

Many girls have difficulties with eating and drinking. There can be issues with chewing including how efficiently they can do so.  There can be problems with swallowing including choking and gagging on both liquids and solids. The girls can have issues with easily aspirating on their food and drink and are susceptible to aspiration pneumonia. Many girls suffer from reflux and almost all girls have some degree of constipation. Many girls and women will eventually get a g-tube or a feeding tube due to these complications. Because of these situations, girls can become malnourished,dehydrated, severely underweight, and lose energy, all of which prompt the decision to have a feeding tube inserted.

All girls with Rett Syndrome have an abnormal EEG. 80% of those effected by Rett will have at least one seizure in their life.

Approximately 90% are at risk for some degree of curvature of the spine. The risk increases when girls are not mobile.

In addition to aspiration pneumonia, infectious pneumonia is a common problem in the Rett population.  "Lack of normal movement makes the individual with RS more prone to pneumonia." Pneumonia can quickly become very serious in girls with Rett, often resulting in hospitalization, and sometime even becoming fatal when it causes severe respiratory complications.

Girls with Rett also need to have regular EKG tests to check for "Long Q-T Syndrome". "Q-T refers to one of the intervals that characterize a normal heartbeat cycle.  In people with Long Q-T Syndrome, this interval is longer than usual, which disturbs the heart's rhythm. The disorder may cause attacks of fast heart rhythm, which can be serious."  A girl needs to be continuously checked because she can not have it one year, and it can develop over the next year.

Many girls have abnormal breathing patterns that include hyperventilation, breath holding, gulping air, and shallow breathing. This causes problems throughout the day including too much air in the stomach, but it can also cause sleep disturbances throughout the night.
So the two most obvious issues that we deal with on a constant basis are Lucy's inability to walk and talk. I spend the majority of every waking moment trying to figure out ways for her to be able to communicate with the world and ways for her to navigate through it. But, Rett Syndrome unfortunately is not just made up of those two difficulties. Everything I have mentioned above can contribute to compromising her health in so many ways, which sometimes leads to a shortened lifespan...because there are just so many things that can go wrong. This has taken me several days to write and during this time a four year old with RS died. She had been sick and had been in the PICU with respiratory failure, but I do not know the specifics of why she passed away.

My goal in writing this truly was to be informative, however, I do realize that it is probably gloomy to read. My intention was not to come off as, "Oh, whoa is me, pity us." However, I think it is important for the people in our life to fully understand, and accept what the situation is and what we have to deal with everyday and what all we are constantly worrying about. I guess it is the same as not ignoring what Lucy's hands do, we can't pretend that this stupid Rett Syndrome is not scary and horrible. But, I felt I had been remiss in helping everyone to understand what it is all about.  I guess I was just learning myself during these past months since receiving the diagnosis. I will continue to share information as I learn it.


  1. Thank you for posting that. It is a very clear concise picture of what Rett Syndrome is and what it means to you guys and Lucy. I also thought the "Holland" essay was very spot on. I know words don't mean a whole lot, but I think you are doing the best, most courageous job of being a Mom that I've ever seen anyone do yet. Love you!

  2. Julie -I want to thank you too for taking the time to explain so much more about Rett's Syndrome. Until you started writing about it, I think I'd only heard of it -by name only -as being under the Autism Spectrum's umbrella. Sure I did Google it and got a little more information on it that way but nothing as clear and concise as your explanation here. Reading this, it makes me wonder but what my youngest first cousin might have this too! She is now 55 years old and has numerous issues but I remember some of the things you mentioned in this also being present with her when she was a baby and toddler. With her, eventually it was decided her issues had been caused by RH factor as my aunt was RH negative and had had a miscarriage before my cousin was born and that was in the days prior to the Rhogam shots being given after a live birth or a miscarriage to prevent the build-up on the antibodies. Anyway, she was then also diagnosed as having Cerebral Palsy plus, supposedly an IQ below 70 -which is usually the dividing line for mental retardation. And, of course, that was a half-century ago too long before a lot of things were learned about how to teach people who have severe physical and also, mental handicaps. Ok -"challenges" as they are generally called today. Makes me wonder too now how much she might have been able to do had she been born in the last 5-10 years -were it possible to change one's birth, ya know. But after having seen my Aunt take her from one doctor to another, to trying to find ways to teach her daughter to speak, to learn little things, anything at all, reading your posts here reminds me very much of my cousin and also, you remind me of my aunt -determined, persevering in getting every bit of help humanly possible to assist your daughter! I always thought my aunt was the epitome of being a good mother and you fill that bill to a tee too! The key here is to never give in, never give up and always have faith that you will find something that works! And that's something I think you have and will do and keep on doing -all for Lu's benefit and well-being.