Friday, March 16, 2012


When leaving the Geneticist appointment 3 weeks ago, we set up an appointment to see her again 6 weeks from then to go over the results of the blood work. I got a call on Tuesday 2/21 to come in and see the Doctor because she had the results back (3 weeks earlier than planned). She opened up her books for Friday 2/24 and made an appointment for us to come in at a time she doesn't usually work so that Austin could be there.

We went in on Friday afternoon to find out that the results of the tests came back positive. We found out that Oaklynn has Rett Syndrome. Austin knew nothing about it where as I had researched a lot about it because she told me that was what she was testing for. Austin didn't want to research about something without knowing if that was what Oaklynn had (makes plenty of sense). Me on the other hand wanted to see if I felt Oaklynn fit the mold of a Rett Syndrome child and to my surprise, she did! I was amazed at doing the research, how much I felt like they were talking specifically about Oaklynn. I kind of wanted the tests to come back positive because we would have an answer that would make sense to me. But then again, what parent wants their child to have any type of syndrome?!?

She also tested positive for Smith-Magenis Syndrome and is the only child ever known to have BOTH defective variants in her genes. Most of her characteristics are Rett Syndrome but she does have some that are Smith-Magenis as well.
What is Rett Syndrome?
Rett syndrome is a unique development disorder that is recognized in infancy and seen almost always in girls, but can be RARELY seen in boys. It has been most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. It is caused by mutations on the X chromosome on a gene called MECP2. It occurs worldwide in 1 of every 15,000 female births. It is a developmental disorder, not a degenerative disorder. Rett syndrome causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensation, mood, movement, breathing, cardiac function, chewing, swallowing, and digestion. Symptoms appear after an early period of apparently normal or near normal development until 6 to 12 months of life, where there is a slowing down or stagnation of skills. A period of regression then follows when she looses communication skills and purposeful use of her hands. Soon, stereotyped hand movements such as hand washing, gait disturbances, and slowing of the normal rate of head growth become apparent. (Oaklynn has a normal sized head though which is rare). Other problems may include seizures and disorganized breathing patterns while she is awake. (that's why we are doing the EEG tomorrow, to see if she has been having seizures that we have been unaware of. Only about 20% of children have Rett syndrome but don't have seizures). There may be a period of isolation or withdrawal when she is irritable and cries inconsolably. Over time, motor problems may increase, but in general, irritability lessens and eye contact and communication improve. (her eye contact is getting SO MUCH better so that's a huge improvement).

I found this explanation of Rett syndrome for children but I think it's GREAT for adults too:

Most people have never heard of Rett syndrome. But you might know a girl with Rett syndrome! She may live in your neighborhood or attend your school. You probably noticed right away that she makes special movements with her hands almost all the time. Do you wonder why? It is because she has a condition called Rett syndrome that affects her brain.

Why is it called Rett Syndrome?
Rett syndrome was named for Dr Andreas Rett, who first recognized the syndrome. A syndrome is a group of symptoms – when you put them all together they identify a special condition. Girls with Rett syndrome have the same symptoms.

What are the symptoms of Rett Syndrome?
Rett syndrome almost always happens in girls. When she is born, a girl with Rett syndrome seems to be healthy. She smiles, sits up and may begin to walk and talk. Within the next couple of years, though, she begins to lose skills and is no longer able to do what she once could.

Here is a list of features or symptoms that must be present to call it Rett syndrome.
Her head does not grow at the rate it should. (Oaklynn's is fine so far. Very rare) She loses the ability to use her hands to pick up and hold things. She can no longer say words. She begins to make different hand movements such as clapping, “washing her hands”and putting her hands in her mouth. If she can walk, her legs are stiff and wide apart. She might walk on her toes. When she is upset or scared, her body trembles or shakes.

She may also have other symptoms like the following:
She may breathe differently, either holding her breath, called apnea, or huffing and puffing, called “hyperventilation”. She may have seizures, which happen when her brain creates extra powerful jolts that make her behave or move differently. Seizures can be scary to watch, but they do not hurt her. She may have scoliosis, when her back curves so she is leaning to one side or leaning forward. She may grind her teeth. Her feet are very small and cold. She is almost always thin, even though she eats a lot. She may be irritable or not sleep as well as she should. She may have trouble chewing or swallowing. As she gets older, she may not be able to move and walk as well as she did when she was younger.

What kind of problems does a girl with Rett syndrome have?
She has a lot of problems that affect her in different ways. The biggest problem is apraxia. Because of apraxia, her body cannot do what her brain tells it to - things like moving and talking. Just imagine how hard it would be to know what you want to do and not be able to do it, or to understand what someone says but not be able to show that you understand. It can be frustrating to have Rett syndrome.

How much does she understand?
Not being able to talk doesn't mean she doesn't have anything to say! She probably understands everything you say, but she cannot speak or react the way you want her to. Pay attention to her body language and her eyes - they tell you a lot! When she is irritable or loud, she is probably trying to tell you something important in the only way she can. BE PATIENT.

How can I help her?
Talk to her like you would someone else her age. Give her time to respond. Sometime it takes several minutes before she can give an answer or make a movement to show you she understands. Include her in everyday activities even if she can't participate fully. She is really more like you than she is different - just like a regular kid. And all kids have the same smile! Get to know her and you will see.

How do you get Rett syndrome?
You can't catch Rett syndrome! It is caused by a fault in a certain gene that a girl with Rett syndrome is born with. Genes are sets of directions that each of us carry in all of our body cells. They tell our body cells how to make the substances that our bodies need to function well. Each cell has thousands of genes, and each gene has thousands of pieces of code. These codes determine weather we will have blue or brown eyes or whether we will be short or tall and all of the other characteristics that make us all different. These chemical codes are long and complicated, so sometimes there are mistakes. Each of us has some of these mistakes, or mutations, in our body that are harmless. But sometimes, the directions get so mixed up that they caused conditions like Rett syndrome.

How come she seemed OK as a baby?
The mixed-up gene is there even before she was born. It just takes some time for enough problems to develop for us to notice that something is wrong.

How is Rett syndrome treated?
A girl with Rett syndrome may need to take medicine to control seizures or to help her motor coordination or breathing. She also needs special therapies.
Physical therapy is used to help her keep flexible and able to move better and walk.
Occupational therapy helps her to use her hands for everyday activities like eating and drinking, brushing her teeth, and even playing with toys or games.
Speech therapy does not teach her how to talk (apraxia makes that very difficult). It teaches her to use other ways to communicate.
Music therapy gives her another enjoyable way to communicate and to make choices.
Through hydrotherapy, she is able to move more easily in warm water.
Many girls participate in horseback therapy, which helps strengthen muscles and improve balance.

Just like you and your friends, not all girls with Rett syndrome are exactly the same. Some girls go to special schools, while others attend their local neighborhood schools. They may learn in different ways, but they love to learn, just like you. They also love music, sports, animals, food and friendly people, just like you!


Rett was reveresed in mice in 2007 and they are testing the drug on girls right now! We have found a Rep. for Rett syndrome here in Arizona. She lives in Tucson but said she is always in Phoenix to help other families out. We are going to meet with her on Saturday to discuss things we should be doing to help Oaklynn out. Also, she is keeping us aware of events and meetings so we can meet other families and be up to date with the latest information.

We are VERY blessed to have such amazing friends and family and thank you all for your love and support. We feel that now that we have a diagnosis, we understand Oaklynn better and understand how to help her progress the best she can. Knowing that she understands us and that we just need to be patient and look for signs of communication, we now feel we are finally starting to understand her and communicate with her. If any of you have ANY questions, please feel free to ask. I am more than happy to answer any questions anyone may have. Love you all!

(You can learn more by visiting

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