Angelman Syndrome

[Anonymous]

Our DC has had developmental delays since he was born and now as a toddler he still has some delays. Recently a friend of mine suggested to look up Angelman Syndrome (she saw Colin Farrell talking about his son on Ellen) because our DC seems toahve some of the symptoms. I looked it up and am afraid that he does have some of the symptoms (although we've taken him to Kennedy Krieger for blood work and it came back negative, but he wasn't tested for that). I'm trying to make another appointment with them for a follow-up, but wanted to reach out to everyone and ask if your child or if you know anyone's child that has the Angelman Syndrome. I've real a lot on the internet, but would love to hear anecdotes from actual parents. I understand what it is, but would like to learn more about treatment, when/ how the child was diagnosed, what your day is like, what kind of childcare is your child in, etc.

[Anonymous]

Anonymous wrote:Our DC has had developmental delays since he was born and now as a toddler he still has some delays. Recently a friend of mine suggested to look up Angelman Syndrome (she saw Colin Farrell talking about his son on Ellen) because our DC seems toahve some of the symptoms. I looked it up and am afraid that he does have some of the symptoms (although we've taken him to Kennedy Krieger for blood work and it came back negative, but he wasn't tested for that). I'm trying to make another appointment with them for a follow-up, but wanted to reach out to everyone and ask if your child or if you know anyone's child that has the Angelman Syndrome. I've real a lot on the internet, but would love to hear anecdotes from actual parents. I understand what it is, but would like to learn more about treatment, when/ how the child was diagnosed, what your day is like, what kind of childcare is your child in, etc.

Very good friends have a child with it.

Sweetest child I've ever known, but she'll always be that way, which is the heartbreaking thing. Always smiling, but even as an adult, will be like a child in terms of intellect.

There are some physical challenges as well (seizures, that sort of thing). I think they used Easter Seals daycare for a while but have changed.

[Anonymous]

Kids with AS are completely nonverbal. They walk very late. They are prone to seizures. Very happy very sweet kids.

[Anonymous]

What you need is a microarray test ordered from your developmental pediatrician. My son had that test and we found out he has a rare chromosome disorder. Although he does not have Angelman Syndrone, one of his neurologists suggested he had some of the symptoms of Angelman Syndrome (among other syndromes). My child is very sweet, has seizures and a movement disorder.

http://www.angelman.org/

Can you connect with other parents thru this foundation?

[Anonymous]

You definitely need to see a geneticist for a micoarray which will show if he has the deletion on chromosome 15 that causes Angleman. There is A LOT of research in hopes of finding a cure/ treatments for AS. In fact there is a study going on right now of 28 children with AS using a common antibiotic to relieve some symptoms.

I have a daughter with Rett Syndrome, similar to Angelman (but only affects girls and is caused by a single gene mutation). The RS and AS communities are very close. RS was featured on NPR yesterday because of a research study that effectively cured RS in mice using a bone marrow transplant. I wouldn't trade my daughter for the world, but know that even if your Son does have AS, there is real hope for treatments someday in his lifetime.

[Anonymous]

There is a geneticist I've heard a lot about -Rosenbaum? or Rosenberg? at Children's in D.C.. One of the heads at Hopkins referred me to him and said he is the best around. Maybe you can directly get a referral to him.

My son has another rare genetic disorder; he required FSH and metyhlation testing to confirm the diagnosis and I suspect you'll have to go through a similar process. There are some other disorders that can look like Angelman's in presentation as well.

Good luck.

[Anonymous]

I agree that if you have a child with this level of severity you should have the genetic testing done anyway, but your description of your child as having "some" delays make me think it's probably not Angelman's.

I've only worked with Angelman adults, but the ones I know function far below level, more like a young toddler in terms of communication, impulse control, and cognitive skills. As a chronological toddler, I would imagine that they functioned ,more like young infants.

[Anonymous]

I know a colleague with a child with AS and she tells me how it is like having a baby in many ways esp in that his sleep is not typical for a child his age. He is up a lot at night and she gets little sleep herself.

[Anonymous]

We have a child with a genetic issue also. I highly second the rec to have a microarray done. Getting it answered all of our major questions and put an end to a year long quest to figure out what was wrong. We had our initial one done at NIH in this study, although it can be done anywhere. It was the positive posts on this board about NIH that even got me thinking about going there--totally free, awesome docs. http://clinicalstudies.info.nih.gov/cgi/wais/bold032001.pl?A_02-CH-0023.html@developmental@delay

The doc at CNMC a PP mentioned is Ken Rosenbaum. We never saw him but he has a huge reputation. NIH sent us to see a neurogeneticist named Andrea Gropman at CNMC. With a suspected genetic issue plus seizures I would go see her. She can order the microarray for the you and have you tested as well.

[Anonymous]

I just want to give a caveat that my friends often point out that my child (for whom we are still searching for a diagnosis) seems to have features of such and such syndrome. It's best to take such comments with a grain of salt. Many children have features of many syndromes. You can't base a guess on the fact that, for example, Angelman's kids are happy and your child is happy.

[Anonymous]

A consult with Dr. Rosenbaum certainly wouldn't hurt. It may take a while to get one. Have your pediatrician call if you have a hard time getting an appointment.

[Anonymous]

I can recommend www.angelmanforum.org where you can read about people's experience - this is where I first had contact with people when my son Elijah was diagnosed with Angelman Syndrome. It is possible to have a clinical diagnosis of Angelman Syndrome even though the bloods may not have a positive result. If you are on Facebook - you could post on The Angelman Network Group - https://www.facebook.com/groups/104686089609200/ and you could get some contact wisdom insight or the Angelman Syndrome Foundation site if you post in the Angelman Network site I will see i I can make some local connections for you if you were interested.-

Darren
The Angelman Network

[Anonymous]

Getting an appointment with Dr Rosenbaum takes many months. But he works with other geneticists at Childrens; they are easier to see. I have mixed views about genetic testing: it is not always clear how actionable are the results. We have gone back and forth on this with my 17 yr old daughter, who has characteristics of some syndromes e.g. Turners, Fragile X, but first round testing came back negative. NB at 17.5 yrs old she has still not started her period, has been diagnosed with non-verbal learning disabilities, is somewhat anxious. But generally doing well... However she was recently diagnosed with some form of congenital heart condition and it made me realize that more detailed genetic testing is probably a good thing. There can be all sorts of lurking problems that only become apparent as a child matures. NB we are working with Children's on this.