In my last article on the topic of MECP2 Duplication syndrome, I discussed the first step to understanding what it is and how it happens.
In this article, I'll discuss what types of symptoms you can expect to see in a person who has been diagnosed with MECP2 Duplication Syndrome.
It is important to keep in mind that the rare girls who are diagnosed with this disease usually show less severe symptoms than boys due to the phenomenon of x-inactivation.
If the duplication is translocated to another chromosome however, girls can have symptoms just as severe as boys.
It is likely that the first symptom parents in particular will notice is hypotonia, low muscle tone often referred to as "floppy baby syndrome".
When my Anna was a baby, she often flopped backward when being held if you didn't fully support her back.
I'm sure there were other examples of her floppiness, but we really didn't know enough to notice it.
We just thought she was kinda scrawny and that she was a slow developer, which is most likely the next thing you would notice.
Development can be slightly to severely delayed.
We kept taking Anna for well child check-ups and she wasn't meeting the milestones she was suppose to be meeting.
(Is she waving bye-bye, saying ma-ma, sitting up, rolling over? no.
) She would seem to do these things really late, but she did get to where she would do them.
For instance, Anna didn't crawl until she was ten months old as to where many babies start crawling at six months old.
We just thought she was a little delayed but would catch up.
Poor speech development will also occur.
We feel really blessed because Anna is completely verbal in communication.
She does still say things we cannot understand even now at seven years of age, but we started out with pictures and pointing and teaching basic sign language to communicate.
One very special story to me is when I first discovered Anna was saying, "Mommy".
She was saying "Ah-di", but we couldn't discern that from any of the other babble she continually made.
One day I asked her to say mommy and she said ah-di and I thought, "Is she saying Mommy?" Then I had to leave the house and when I came back she rushed up to me saying, "Ah-di, Ah-di!" It was a priceless moment I could never forget.
My baby was calling me mommy.
Now she calls me "nonny", and I'm told she probably always will.
I'll give her the benefit of the doubt though - I believe she WILL call me Mommy! Unfortunately, many children with MECP2 develop very few words all the way into adulthood.
I'm told even the males who are the functioning the best have fewer than 10 words.
Mental retardation is another severe characteristic of MECP2 Duplication Syndrome.
In Anna's case, she is seven and operates at about the age of three.
So far, this has been an envy to many other MECP2 moms because we most often hear even more severe retardation such as nine years old operating at nine months old.
As a result, many MECP2 kids don't learn to walk.
Seizures are often reported with MECP2.
Usually the tonic-clonic seizures are the ones most often seen.
These are the epilepsy type seizures.
There can also be atonic seizures where the child's head falls forward and he or she spaces out for a moment.
In Anna's case, she had the absence seizures known as staring spells.
She seems to have "grown out" of these since we have not noted them in a long time.
One particularly dangerous effect from MECP2 is the instance of recurrent infections.
The reason it can be serious is because sickness like pneumonia can be repeated over and over and has been recorded as one reason that 75% of males with the disease pass before the age of 25 years.
In Anna we see a predisposition to illness, but never respiratory problems that can so often happen with this disease.
It does keep her out of school a lot though as she seems to get every bug within a hundred mile radius.
You may also see autistic behavior.
We had Anna tested for autism and were told that she has the behaviors but not enough to be diagnosed with it.
Her geneticist said that just because she wasn't officially diagnosed with it doesn't mean she doesn't have it, it could be a really mild form.
Finally, you might notice gastrointestinal issues.
I know we do.
Constipation is a constant problem in our home and we have to take precautionary measures like giving clear laxatives in her drinks.
Sometimes we will forget, and there have been times we've had to administer an enema.
Eating fiber rich foods could help, but because of the hypotonia, it's very hard to get Anna to eat right.
She wants easy to chew and swallow foods like soft pudding or crunchy crackers or pretzels.
These are the main signs and symptoms you will see if your child or someone you know has MECP2 Duplication Syndrome.
Research is still underway, and there could be much more information to come.
If you want to support research, give to the Baylor College of Medicine in Houston, TX and make specific your intention that the funds should go to MECP2 research.
In this article, I'll discuss what types of symptoms you can expect to see in a person who has been diagnosed with MECP2 Duplication Syndrome.
It is important to keep in mind that the rare girls who are diagnosed with this disease usually show less severe symptoms than boys due to the phenomenon of x-inactivation.
If the duplication is translocated to another chromosome however, girls can have symptoms just as severe as boys.
It is likely that the first symptom parents in particular will notice is hypotonia, low muscle tone often referred to as "floppy baby syndrome".
When my Anna was a baby, she often flopped backward when being held if you didn't fully support her back.
I'm sure there were other examples of her floppiness, but we really didn't know enough to notice it.
We just thought she was kinda scrawny and that she was a slow developer, which is most likely the next thing you would notice.
Development can be slightly to severely delayed.
We kept taking Anna for well child check-ups and she wasn't meeting the milestones she was suppose to be meeting.
(Is she waving bye-bye, saying ma-ma, sitting up, rolling over? no.
) She would seem to do these things really late, but she did get to where she would do them.
For instance, Anna didn't crawl until she was ten months old as to where many babies start crawling at six months old.
We just thought she was a little delayed but would catch up.
Poor speech development will also occur.
We feel really blessed because Anna is completely verbal in communication.
She does still say things we cannot understand even now at seven years of age, but we started out with pictures and pointing and teaching basic sign language to communicate.
One very special story to me is when I first discovered Anna was saying, "Mommy".
She was saying "Ah-di", but we couldn't discern that from any of the other babble she continually made.
One day I asked her to say mommy and she said ah-di and I thought, "Is she saying Mommy?" Then I had to leave the house and when I came back she rushed up to me saying, "Ah-di, Ah-di!" It was a priceless moment I could never forget.
My baby was calling me mommy.
Now she calls me "nonny", and I'm told she probably always will.
I'll give her the benefit of the doubt though - I believe she WILL call me Mommy! Unfortunately, many children with MECP2 develop very few words all the way into adulthood.
I'm told even the males who are the functioning the best have fewer than 10 words.
Mental retardation is another severe characteristic of MECP2 Duplication Syndrome.
In Anna's case, she is seven and operates at about the age of three.
So far, this has been an envy to many other MECP2 moms because we most often hear even more severe retardation such as nine years old operating at nine months old.
As a result, many MECP2 kids don't learn to walk.
Seizures are often reported with MECP2.
Usually the tonic-clonic seizures are the ones most often seen.
These are the epilepsy type seizures.
There can also be atonic seizures where the child's head falls forward and he or she spaces out for a moment.
In Anna's case, she had the absence seizures known as staring spells.
She seems to have "grown out" of these since we have not noted them in a long time.
One particularly dangerous effect from MECP2 is the instance of recurrent infections.
The reason it can be serious is because sickness like pneumonia can be repeated over and over and has been recorded as one reason that 75% of males with the disease pass before the age of 25 years.
In Anna we see a predisposition to illness, but never respiratory problems that can so often happen with this disease.
It does keep her out of school a lot though as she seems to get every bug within a hundred mile radius.
You may also see autistic behavior.
We had Anna tested for autism and were told that she has the behaviors but not enough to be diagnosed with it.
Her geneticist said that just because she wasn't officially diagnosed with it doesn't mean she doesn't have it, it could be a really mild form.
Finally, you might notice gastrointestinal issues.
I know we do.
Constipation is a constant problem in our home and we have to take precautionary measures like giving clear laxatives in her drinks.
Sometimes we will forget, and there have been times we've had to administer an enema.
Eating fiber rich foods could help, but because of the hypotonia, it's very hard to get Anna to eat right.
She wants easy to chew and swallow foods like soft pudding or crunchy crackers or pretzels.
These are the main signs and symptoms you will see if your child or someone you know has MECP2 Duplication Syndrome.
Research is still underway, and there could be much more information to come.
If you want to support research, give to the Baylor College of Medicine in Houston, TX and make specific your intention that the funds should go to MECP2 research.