Journal of a Rett Mom
Are you new to Rett? Or you have never heard of it? Read the journal entries of Rett mom Dana Wyman Kamp, mom of Isabel to get a glimpse of a life with Rett Syndrome.
Diseases & illnesses
Having Rett Syndrome does not make the person immune from other diseases and illnesses...it just makes them harder to detect. When Isabel started having seizures, we had to still get a CT scan of her head “to rule out another cause in her brain for the seizure”...we could not just assume it was because of Rett. Additionally, it took me several days to figure out that Izzy probably had strep because she couldn’t tell me her throat hurt. Unfortunately, illness (even with a controlled fever) is a trigger for seizures.
Note about cardiac issue
People with Rett syndrome are prone to cardiac conduction delays. Every year we get an EKG to monitor for things like prolonged QT syndrome and AV conduction delays. If left unchecked, these conditions could lead to sudden cardiac death.
Rocking back and forth…
Sensory seeking behaviors occur when the nervous system is not able to process sensory input, so some children with Rett seek out sensory experiences. In Isabel, we see behaviors like rocking back and forth, mouthing objects or her hands, a lack of awareness to pain, touching others too often or too hard and difficulty sleeping. From the second Isabel wakes up, she sits in her bed, rocking back and forth.
Siblings
Let’s talk about siblings. Did you know that siblings of kids with special needs are at greater risk for emotional issues, anxiety, stress, feelings of being neglected and are forced to learn hard lessons early on in life. Hopefully, they also learn patience, kindness, acceptance of differences and empathy for others early on too. I worry all the time about how Brayden and Reagan are feeling. I was just as worried about Brayden the first time he saw Izzy have a seizure as I was about Isabel. I know at times my patience can be thin because of various things happening at home. I also know that Rett Syndrome is a very difficult thing for kiddos to understand. I am so grateful though that Isabel will have these two to look out for her and I am even more grateful they will have each other to lean on.
Communication
I always resent this part of Rett the most....communication for us is the very hardest part. To not know what Isabel is thinking, experiencing, feeling just breaks my heart. We have spent countless hours doing speech therapy, working to find a communication device that works best for Isabel and then so much time learning how to use it and for us to support her with it!! Some children with Rett have no use of their hands. Eye gaze technology allows them to pick choices by looking. Because Isabel has some use of her hands, she has this type of device.
We hope for a cure!
There is hope on the horizon!!! There have been some really promising studies to not only improve the symptoms of Rett (breathing issues and hand stereotypes) but also in reversing Rett Syndrome. They are looking at trying to re-introduce the MECP2 protein as well as reactivating the silent X. Rett syndrome is tricky though because too much MECP2 is as bad as not enough. It always amazes me how complicated it all is.
Patience is needed!
Tonight was one of those nights. Everything was fine all day. When I took Isabel to her room and helped her lay in bed, she pulled my hair, hard. As always, I told her to try to use her words and she needs to have soft hands or keep them to herself. Her eyes started to well up with tears. So did mine. I asked her if she was frustrated. She just looked at me with her tearful eyes. After a few minutes, she said “frustrated”, then “it’s hard”. She is becoming so keenly aware of all that is happening in her little body. She also knows that people have a hard time understanding her words. For a few minutes we just laid there and cried. I share this story not for people to feel bad for us, but instead to give a glimpse into the hard stuff. I ask this of my friends and family. Please try to have patience with us, especially Isabel. She needs lots of time to process things to say. Recognize that a hair pull or grabbing of your arm (while sometimes she thinks it’s a funny game) more often is her trying to get your attention...her telling you she is mad or frustrated...her just reaching out, or her hands not doing what she wants them to do. We are working hard to give her other means to communicate, but for now, we appreciate your patience.
Not all people with Rett syndrome are lucky enough to have the experts in the condition take care of them. We are. At The Children’s Hospital of Colorado, we have 1 of only 14 Rett Clinics in the whole country. Ours is so special that people come from all over the country to see our team. How amazing is that?! Izzy has been for a clinic visit twice (she goes every other year), but I have called upon this group of specialists many times. The support we have received is incredible and the guidance they show our regular doctors is invaluable. On a clinic day, the family gets their own exam room to set up shop and the specialists come to you. These kids can require so many different doctors visits. But at the Rett Clinic, you can see 12 different specialists in one day. Can you imagine trying to coordinate all of those visits separately?? Families are given snacks and provided with support resources. You can talk with other families. You don’t feel like you are navigating this terrible condition on your own. Because of the clinic, we are also a site for some clinical trials.
Gaby’s story - what an eye opener!
This is an incredible article written by a courageous young woman who has Rett Syndrome. Please take a few minutes to read what her experience has been like.
Living with Rett Syndrome…
Not necessarily a Rett fact, but a glimpse into the day to day stuff and the types of therapy Isabel does. Each day, we dress her, brush her hair, teeth, and help her cut food (though she is able to use a spoon and fork). Isabel is dependent on us for pretty much every one of her activities of daily living. She can have as many as 3 different therapies in a week, speech therapy, occupational therapy and physical therapy. I frequently wish we could work in a music class (or music therapy) because Isabel loves music! In addition to home therapy, Isabel also receives therapy at school. While we constantly work to try to help her gain some independence with tasks she likely will always need lots of assistance to do even the most basic things. We have been blessed with so many incredible therapists through our journey, for this we will always be grateful. Another older image, but I was in tears with Izzy riding this bike. I did not think I would ever get to see this.
Life expectancy
This one is hard. On the first night that we learned of Izzy’s diagnosis, we Googled so many things. One of which was life expectancy. The first website I saw was devastating ( I remember it quoting life expectancy only into the mid 20s). Since then, I have definitely found some better resources. According to Rettsyndrome.org, a child with Rett syndrome (just based on disease process alone) has a near 100% chance of reaching age 10, 90% chance of reaching age 20, 75% chance of reaching 30, 65% chance of reaching 40 and >50% chance of reaching 50. I sometimes get resentful of these statistics. But, more often than not, it makes me fight a little harder for her....there is every reason to believe she will live a long life. Just because I don’t want to do a separate sad post...usually a shortened life is due to uncontrolled seizures, pneumonia, or aspiration.
Sleeping
Sleep problems are a common occurrence in Rett Syndrome. There is a variety of different issues that can include laughing, screaming, teeth grinding, breathing abnormalities, wakefulness and seizures. For us, Isabel can be awake for hours upon hours at night. Unfortunately, a lot of her seizures happen at night also. We have a sound monitor from her room to our bedroom and a video monitor that allows us to see what is going on that we can access from our cell phones. Because of the sound one, we quickly hear if she lets out the tell tale scream before a seizure. The video monitor allows us to see how long she has had the seizure or if we have missed anything. Having both of these things in place is probably the only way we are able to get any sleep!
Cold hands & feet
Children with Rett are prone to cold hands and feet! I have tried to figure out why...one article suggested it is related to abnormal perfusion. This tidbit seems funny to include, but it is something that people comment on frequently with Izzy.
Boys and Rett Syndrome
Does Rett Syndrome affect boys? The short answer is yes. However, it is far more prevalent in girls. The reason for this is that the mutation occurs in the X chromosome. Because boys only have one copy of the the X chromosome, if the mutation is present they tend to have devastating disability (sometimes not surviving into infancy). There are “Rett like disorders” (similar symptoms but slightly different mutations) and also one mutation that affects boys that is less severe.
Pain Tolerance
Though it varies from person to person, those with Rett Syndrome tend to have a high tolerance to pain. There seems to be a difference in internal and external sources of pain. For instance, a child with Rett Syndrome may not cry with a skinned knee or for a blood draw (I have seen both of these first hand) but may scream and cry because of gas pains. This is difficult for several reasons. As an example, a child could be really hurt with a broken bone that could go unnoticed after a fall until several days later when bruising and swelling sets in. Also, it is incredibly difficult to identify what the source of why she is upset. Is she crying because of pain, sadness, hunger, illness, is she scared?
To see a recording of a webinar organized by Rettsyndrome.org about pain, register here.
Autism vs. Rett Syndrome
How does Rett differ from autism? At an early age children with Rett sometimes display Autistic-like features, but these feature disappear over time. Rett occurs primarily in girls where autism is more common in boys. The symptoms of reduced rate of head growth, loss of purposeful hand skills, loss of mobility and irregular breathing patterns are not seen in autism. Finally, a child with Rett almost always prefers people to objects and enjoys affection, where the opposite is true of autism. One way though that Rett and autism are similar is that no two kids are the same! The ability of a child in either group should not be judged based on their diagnosis.
Chances of having more children with Rett Syndrome
What are the chances of having more than 1 child with Rett? It is actually <1%. The genetic mutation is sporadic, meaning it occurs at conception and does not usually run in families. There are rare cases that one parent is a “silent carrier” of a mosaic version of the mutation (meaning they have some genetic mutation, but the features are not expressed), but it is exceedingly rare. Regardless of the encouraging statistics, this information did not really make me feel better because we learned of Izzy’s diagnosis while I was pregnant with Reagan. In fact, we made the decision to do genetic testing because I found out I was pregnant. We made the decision to check for the mutation after Reagan was born. I knew that if she fell behind on any milestone, or if her head was ever measured as small, I would be worried to a point of paralysis that she had Rett too.
Seizures
Up to 80% of people with Rett Syndrome have seizures. For Isabel’s specific genetic mutation, only 50% have seizures. Probably the scariest day of my life was September 20, 2018. A friend called me while I was at work. This never happened so I knew something was wrong. She said in a very calm voice “everything is ok, but something is going on with Izzy”. In a very short time Josh met her at the ER with Isabel and I came shortly thereafter. She seemed fine. Happy. We were just waiting on her discharge paperwork and she had a tonic/clinic seizure (grand mal) while in my arms. In total, we believe she had 4 seizures that day. We went in the ambulance to Children’s Hospital Colorado and stayed the night. We did a CT scan (because we had to rule out any other cause) and an EEG. We went 4 months before the next seizure. At the end of January, she had 4 in a day. We changed her anti seizure medication dose. The 2nd week of February she had more than 15 in a day and an ED visit. More medication changes. For 2 weekends I a row in April, we had seizures that were uncontrolled. Dose upon dose of rescue medicine. With each event, we changed her medication. On the worst night, she had 12 seizures in about 2 hours. The scream that she makes just before a seizure will forever be engrained in my memory. This was probably one of the hardest times in our journey. Isabel never has just 1 seizure. As soon as she has one, you know things will be bad for a few days. As terrible as the seizures are, we dread the day after “seizure day” more. The medications to stop the seizures (and the seizure activity itself), create this girl who thinks she thinks she is invincible (and is stubborn) who also has the coordination of a drunk toddler. It is absolutely heartbreaking. Every. Single. Time. Currently, we are on a better regimen. Hopefully , we are on the correct dose of the correct medication. But, I will never stop being terrified of the next “seizure day”. The picture was on her first seizure day. She totally handles it in stride.
What are the symptoms of Rett Syndrome??
In a nutshell: slowed growth, loss of normal coordination, loss of communication abilities, abnormal hand movements, unusual eye movements, breathing problems, irritability/crying, seizures, scoliosis, irregular heartbeat, cold hands and feet, problems swallowing, acid reflux, problems with bowel function and teeth grinding. Will Isabel be affected by all of these things? I don’t know.
Why do children with Rett syndrome regress?
Rett syndrome is caused by a mutation in the gene responsible for producing the MECP2 protein. MECP2 is critical for developing and controlling parts of the brain that are necessary for sensory, emotional, motor and autonomic functions. Without enough protein, these regions of the brain do not develop properly. Development occurs rapidly in infants, and appears normal until the MECP2 is needed. It is not until after the first few months of life that the effects of the missing MECP2 is evident.
I frequently think that this part is the most cruel thing about Rett. We went through my whole pregnancy and first 6 months of her life having no idea that one day, we would get news that changed things forever, for all of us.
Communication...
Such an important part of everyday life, and one of the most difficult parts of Rett Syndrome. Many children with Rett are unable to speak at all. I cannot imagine how difficult that would be. I am frequently asked if Isabel can sign. Because of the decreased ability in fine motor skills and verbal apraxia (knowing what she wants to say but unable to plan out the movements to be able to say it) signing is not possible. She understands everything we say. Her difficulties do not lie in the taking in or processing of information, but in her ability to voice her thoughts. Can you imagine how frustrating that would be?? Asking yes or no questions is best for her...but including her in the conversation means the most!
Our sweet Isabel has the amazing ability to tell grand stories. Unfortunately, we usually do not understand most of what she is saying. You can pick out a few words here or there and she will gesture with her hands, even using inflections in her voice to tell jokes. It is truly incredible. She will also repeat lots of words that she hears . I hope and pray that one day, I will get to know exactly what she is saying, but in the mean time, we are working with speech therapists to expand her vocabulary with her “talker”. These are older videos, but very similar to her communication now.
Stages of Rett Syndrome
There are 4 stages in Rett Syndrome. Stage 1–early onset: occurs between 6-18 months of age. Typically, delays in sitting or crawling are seen along with less interest in toys and decreased eye contact. Stage 2–rapid deterioration: there is a regression where the child loses skills they have mastered. Stage 3–plateau: the child can gain skills during this stage and the stage can last years. Seizures typically develop in this stage. Stage 4–late motor deterioration: decrease in mobility, muscle weakness, joint contractures and scoliosis occur.
For Isabel, we saw slowed head growth and delays in motors skills first. In fact, Isabel never crawled. Some people brag about that, but it is actually a very important skill to master. She didn’t crawl for lots of reasons, but in watching her, she would look terrified to even be in the position. Our stage 2 was brief. Izzy could roll over for about a week and was able to do the sign language for “more”. She abruptly stopped doing both things in the same week. It took months of intense physical therapy to get her to roll over. She never signed “more” again. We are currently in the plateau phase. Isabel has learned lots of new skills with support from therapists, teachers, friends and family. She models a lot of her new skills after her baby sister. Unfortunately, she developed seizures in 2018 also. We dread phase 4. Life frequently revolves around getting Isabel as many skills as possible before the possibility of losing things.
Atypical Rett Syndrome
Isabel has Atypical Rett Syndrome. Here is an explanation as to why she is “atypical”...there are main criteria and supportive criteria to meet requirements for Rett Syndrome. The main criteria is: at least partial loss of acquired hand skills and spoken language, gait abnormalities or inability to walk and hand wringing (very stereotypical for Rett). The child must have a period of regression followed by stabilization. The supportive criteria includes things like: breathing abnormalities, impaired sleep pattern, small/cold hands and feet, inappropriate laughing/screaming spells, diminished response to pain, slowed growth, intense eye communication, and a few other things. For classic Rett, you have to meet all main criteria. Isabel meets 3/4 of the main criteria, and a bunch of the supporting criteria, but she does not do the stereotypical hand movements. Also, her loss of skills was quite subtle compared to some kiddos.
History of Rett Syndrome
Dr. Andreas Rett first described Rett Syndrome in 1966, based on similar features that 2 different girls exhibited. From that point forward a diagnosis of Rett Syndrome was based on clinical features. In 1999, it was discovered that a mutation in the MECP2 gene causes Rett. Our Isabel only meets the criteria (based on her physical symptoms) to be classified with atypical Rett syndrome, even though she has the faulty gene.
Note from RMRA: if you would like to submit a blog entry for RMRett.org to help us spread the word about Rett Syndrome, please contact us.
