Now what?
When your child was diagnosed, you were probably handed a piece of paper that says "ADNP mutation" with a combination of letters and numbers showing the location. You probably also were not given much information and that is because there is not much information out there and that is why I created this website. I am parent just like you with the only difference being that when my son was diagnosed there was no website, no support group, no online information and no community. We are constantly meeting new families and learning more each and every day. You are no longer alone in this struggle, you now have an entire ADNP community to find information and support. An ADNP Tribe!
I am going to talk to you about this as a parent and hopefully will address some of the concerns that you might have as a parent of a child with an ADNP syndrome diagnosis. I am not a doctor, but I am working directly with the research teams in Belgium, Israel and in the US and am very involved in the genetic research of the phenotypes of this syndrome.
I am going to talk to you about this as a parent and hopefully will address some of the concerns that you might have as a parent of a child with an ADNP syndrome diagnosis. I am not a doctor, but I am working directly with the research teams in Belgium, Israel and in the US and am very involved in the genetic research of the phenotypes of this syndrome.
FROM A PARENT:
Colleen: "Sandra, I want to thank you again for all of the insight you gave me some months ago! We were able to get (childs name) into our hospital's collaborative motor clinic (with developmental pediatrician, neurologist, physical therapist, occupational therapist, speech and ortho). We're getting a consult to an ...ophthalmologist, a second MRI, referral to the only PROMPT speech therapist in the area and like 3 walking assistant chairs/walkers! I'm SO EXCITED! The developmental pediatrician said right off the bat she found your website and was so appreciative of it!"
Colleen: "Sandra, I want to thank you again for all of the insight you gave me some months ago! We were able to get (childs name) into our hospital's collaborative motor clinic (with developmental pediatrician, neurologist, physical therapist, occupational therapist, speech and ortho). We're getting a consult to an ...ophthalmologist, a second MRI, referral to the only PROMPT speech therapist in the area and like 3 walking assistant chairs/walkers! I'm SO EXCITED! The developmental pediatrician said right off the bat she found your website and was so appreciative of it!"
What does this mean? A parents perspective
“What does this mean for my child now? What should I do?”, First of all, try not to worry, your child most likely does not have all of the known conditions or symptoms and if they do, the degrees can range from very mild to very severe, so please don’t panic or worry that something worse is going to happen. This is important information for all ADNP families regardless of the degree the child is at and I suggest doing some homework to get familiar with this condition so that you can make informed decisions moving forward. Unfortunately at this time, there is very limited information “publicized”, and new phenotypes are being discovered often.
As a parent who has experienced getting this painful diagnosis and one that has done an enormous amount of research, I can simply try to explain it as this. Something has caused a hiccup in vitro to the ADNP gene. It could cause some congenital abnormalities during development, (such as heart or brain defects), but it also can cause a lot of issues after birth. It greatly affects cognition. Many children have intellectual delays, speech delays, behavior issues and Autism. It greatly affects muscle tone all over the body. To date,(2/2017) 100% of the children have gross motor delays and fine motor delays. It also effects oral motor control and has caused many feeding problems such as aspiration and chewing/swallowing difficulties in infants. Many have neurological vision and hearing impairments. Many have compromised immune systems and have frequent problems such as viral, respiratory, ear, kidney and bladder infections as well as spiking high fever. Many children have mild to severe constipation issues. Some have brain and heart abnormalities, some of which will be noted below. Some have severe sleeping patterns. They are ALL loving, funny, beautiful children. If I could scientifically make "ADORABLE" a phenotype, then it would certainly be a phenotype of ADNP Syndrome, because all of the children are absolutely adorable!
What does this diagnosis mean for you, the parent? From one parent to another, it means you should continue to do what you have been doing for your child all along; love them, care for them and continue addressing their medical needs. But also become aware of what to look for and find out as much as you can. (For me, my child is on the severe end and lived in and out of hospitals with extremely serious surgeries, illnesses and complications. I came from a fairly healthy family, so I was clueless at first!)
Become your child’s biggest ADVOCATE and make sure that all of your medical specialists are communicating with each other. This might sound like obvious advice, but I am amazed time and time again when I see doctors who do not share information. You might come across doctors who will only stay inside their own bubble or who may not feel they need to investigate or understand ADNP Syndrome. My advice for that, well you may want to think about finding a new doctor! This is a very VERY complicated neurodevelopmental disorder. If your doctor is not looking at a concern, talk to another one. I could write a book on the mistakes and over looked issues that my child’s doctors have made and it’s shameful! Since these doctors didn't know what was wrong with my son, we assumed they knew how to treat him. We went along with whatever they told us 'to do' or 'not to do' for years. Even though my gut said we should be doing more, we didn't question or push his doctors for more and we ended up loosing valuable years that we could have been doing intensive therapy and finding out things that were medically complicating my child's life that we didn’t even know about. Then I began super-stalking the Internet, researching everything that I could. I became what my friends refer to as a 'honey badger' parent. I started to speak up for my child and started questioning doctors and asking for to do more. I realized that there is no one that cares more about what happens to my child than me so it was up to me to find him the help he deserved! So I began speaking up. I began looking for answers myself and I began questioning his doctors, his therapists and his school and guess what, I started seeing things improve for my son! So sometimes I look like the “deranged honey badger parent”, but I’m ok with that, because it wasn’t until I put on my Mommy ADVOCATE cape and hounded the professionals that I finally started getting answers and seeing improvements and more treatments for my son. So go with your gut. Read about the syndrome and if your gut says to ask your doctor for a test, or for more therapy, or to answer questions, then do it! Become your childs biggest ADVOCATE! I can't say that enough! Ask questions and join our amazing parent support group. If you are like many of us, the feeling of relief and comfort you will get from connecting to other families who are going through the same thing is beyond amazing.
Ease into the medical information slowly. Try not to worry. I would think that if your child had anything medically severe, most likely your doctors would already know about it. Your child is probably not going to have all of the issues noted and your child is unique and at their own level. The one thing I would suggest you do immediately, is to start pushing for more services and therapies. The earlier you start the better! We are seeing patterns in oral motor speech therapy that seems to be helping the kids much more than traditional speech therapy. We are seeing that certain types of aggressive physical therapy are helping the kids with severe walking delays. If your child was evaluated at a younger age for autism, ask your doctor about re-evaluation. If you haven't had an evaluation, you should talk to your doctor because autism is highly linked to ADNP Syndrome. Try not to be afraid of an autism diagnosis. Autism in ADNP kids looks different, our kids are loving and happy and like to interact with adults. But as many of them get older, they start to develop traits and getting an evaluation is so important. Why, because ABA therapy is showing big results. Push for as much ABA as you can get! (A lot more details about that later) Every day, as we meet new parents and share information, we are seeing that there is more and more hope and help for our children to succeed and we are seeing that there are many children who are doing very well.
Please check out the Parent Support Group page!
Welcome to the ADNP family, our little tribe of superhero kids and parents!
As a parent who has experienced getting this painful diagnosis and one that has done an enormous amount of research, I can simply try to explain it as this. Something has caused a hiccup in vitro to the ADNP gene. It could cause some congenital abnormalities during development, (such as heart or brain defects), but it also can cause a lot of issues after birth. It greatly affects cognition. Many children have intellectual delays, speech delays, behavior issues and Autism. It greatly affects muscle tone all over the body. To date,(2/2017) 100% of the children have gross motor delays and fine motor delays. It also effects oral motor control and has caused many feeding problems such as aspiration and chewing/swallowing difficulties in infants. Many have neurological vision and hearing impairments. Many have compromised immune systems and have frequent problems such as viral, respiratory, ear, kidney and bladder infections as well as spiking high fever. Many children have mild to severe constipation issues. Some have brain and heart abnormalities, some of which will be noted below. Some have severe sleeping patterns. They are ALL loving, funny, beautiful children. If I could scientifically make "ADORABLE" a phenotype, then it would certainly be a phenotype of ADNP Syndrome, because all of the children are absolutely adorable!
What does this diagnosis mean for you, the parent? From one parent to another, it means you should continue to do what you have been doing for your child all along; love them, care for them and continue addressing their medical needs. But also become aware of what to look for and find out as much as you can. (For me, my child is on the severe end and lived in and out of hospitals with extremely serious surgeries, illnesses and complications. I came from a fairly healthy family, so I was clueless at first!)
Become your child’s biggest ADVOCATE and make sure that all of your medical specialists are communicating with each other. This might sound like obvious advice, but I am amazed time and time again when I see doctors who do not share information. You might come across doctors who will only stay inside their own bubble or who may not feel they need to investigate or understand ADNP Syndrome. My advice for that, well you may want to think about finding a new doctor! This is a very VERY complicated neurodevelopmental disorder. If your doctor is not looking at a concern, talk to another one. I could write a book on the mistakes and over looked issues that my child’s doctors have made and it’s shameful! Since these doctors didn't know what was wrong with my son, we assumed they knew how to treat him. We went along with whatever they told us 'to do' or 'not to do' for years. Even though my gut said we should be doing more, we didn't question or push his doctors for more and we ended up loosing valuable years that we could have been doing intensive therapy and finding out things that were medically complicating my child's life that we didn’t even know about. Then I began super-stalking the Internet, researching everything that I could. I became what my friends refer to as a 'honey badger' parent. I started to speak up for my child and started questioning doctors and asking for to do more. I realized that there is no one that cares more about what happens to my child than me so it was up to me to find him the help he deserved! So I began speaking up. I began looking for answers myself and I began questioning his doctors, his therapists and his school and guess what, I started seeing things improve for my son! So sometimes I look like the “deranged honey badger parent”, but I’m ok with that, because it wasn’t until I put on my Mommy ADVOCATE cape and hounded the professionals that I finally started getting answers and seeing improvements and more treatments for my son. So go with your gut. Read about the syndrome and if your gut says to ask your doctor for a test, or for more therapy, or to answer questions, then do it! Become your childs biggest ADVOCATE! I can't say that enough! Ask questions and join our amazing parent support group. If you are like many of us, the feeling of relief and comfort you will get from connecting to other families who are going through the same thing is beyond amazing.
Ease into the medical information slowly. Try not to worry. I would think that if your child had anything medically severe, most likely your doctors would already know about it. Your child is probably not going to have all of the issues noted and your child is unique and at their own level. The one thing I would suggest you do immediately, is to start pushing for more services and therapies. The earlier you start the better! We are seeing patterns in oral motor speech therapy that seems to be helping the kids much more than traditional speech therapy. We are seeing that certain types of aggressive physical therapy are helping the kids with severe walking delays. If your child was evaluated at a younger age for autism, ask your doctor about re-evaluation. If you haven't had an evaluation, you should talk to your doctor because autism is highly linked to ADNP Syndrome. Try not to be afraid of an autism diagnosis. Autism in ADNP kids looks different, our kids are loving and happy and like to interact with adults. But as many of them get older, they start to develop traits and getting an evaluation is so important. Why, because ABA therapy is showing big results. Push for as much ABA as you can get! (A lot more details about that later) Every day, as we meet new parents and share information, we are seeing that there is more and more hope and help for our children to succeed and we are seeing that there are many children who are doing very well.
Please check out the Parent Support Group page!
Welcome to the ADNP family, our little tribe of superhero kids and parents!
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This information guide is not a substitute for personal diagnosis. Families should consult a medically qualified clinician in all matters relating to genetic diagnosis, management and health. Information on ADNP changes is a very fast-moving field and while the information in this guide is believed to be the best available at the time of publication, some facts may later be updated or change.
This information guide is not a substitute for personal diagnosis. Families should consult a medically qualified clinician in all matters relating to genetic diagnosis, management and health. Information on ADNP changes is a very fast-moving field and while the information in this guide is believed to be the best available at the time of publication, some facts may later be updated or change.