Medical Resources and Information
Newly Diagnosed
Although your journey as a parent will be different than what you expected, rest assured that your journey will be equally as joyful and wondrous. Before you begin reading about what to expect, we hope you that you will find comfort in these words: you are not alone. There are many families dealing with Williams syndrome.
The diagnosis can come at varying ages. Regardless of when your child was diagnosed, the first few days following the diagnosis are often the hardest. You may be confused, sad, scared or even angry to find out that your child has a genetic condition. Some people accept the diagnosis and immediately move along to find what to expect next. Others experience the classic stages of grief. Whatever your response to the diagnosis, please know that there is no "right way" to react and you should not feel guilty about being sad or angry. Also, know that many times one parent reacts differently than the other.
As you read through all of this information, we hope that first and foremost you consciously make an effort to see your child as your child first and not see "Williams syndrome" first. Your child is the same child you fell in love with. Your dreams are the same. The journey to reach those dreams may just be a little different than you expected. It can be overwhelming to have your child diagnosed with a genetic condition. Our hope isthat you find answers to many of your questions throughout our website and inspiration through reading about stories with families that have children with Williams syndrome.
“Yesterday was our three year anniversary of our WS Diagnosis. I forgot. I never even gave it a thought until I saw heard someone else mention their anniversary of diagnosis. I thought about the date and realized it was yesterday. Seems like so long ago. I searched for months for answers. I took Keith to every doctor imaginable. Finally, our last stop...the Geneticist. I truly did not expect answers there. I assumed that people with genetic issues had a profound look about them. I didn't see that in Keith. I certainly see it now.
The Geneticist told us almost immediately that she suspected Williams. She gave us information that included pictures of children with Williams. I knew immediately. It was like reading Keith's life story and seeing his twin siblings. I remember walking around in a fog for two weeks waiting for the FISH test results.
Now, I feel like an old pro at this Williams thing. I still have my moments, but I think it's more about worrying that I am making the right choices for him. I have accepted who Keith is and what may or may not lie ahead for him. He's happy, so that makes me happy. I'm glad yesterday was just another day. I'm glad I forgot. It means it's okay now.” Penny, Parent
So, where do you go from here? Broadly speaking, there are a few things you can do early in your child’s life to make the journey easier for you and your child:
Get Informed. Information is power. You are your child’s best advocate. Read through all the sub-sections of Medical Information on this website. Medical issues in Williams syndrome can range from mild to severe and it is vital that you are aware of all potential complications that may arise.
Get Medical Support. It is critical that your child have a complete cardiovascular evaluation to assess any cardiac and/or vascular issues. Williams syndrome can affect multiple organs in the body and complete evaluation and subsequent referral to appropriate specialists should be provided. It is important to establish a relationship with a pediatrician who has experience with children who exhibit developmental delays.
Most times, your pediatrician will be the one to make qualified referrals to other medical doctors and specialists. There is a link provided below titled, "Healthcare Supervision for Children with Williams Syndrome" and it should be thoroughly reviewed by parents and caregivers as well as provided to your child's physicians. This is an in-depth informational article on the varying complications of Williams syndrome, how often to evaluate each issue and special considerations to be aware of.
Get Peer Support. Sometimes the best support for parents is to reach out to other families who have "been there." You can email us at info@wschanginglives.org and we will connect you to a fellow parent of a child with Williams syndrome.
Get Professional Services. It’s important for you to contact your county or state social service office to enroll your child in "Early Intervention Services" if your child is under age 3. For children or individuals diagnosed at an older age, it is still important to identify any developmental and/or therapeutic needs. Each state has different agencies dedicated to ensuring all children needing early services receive them. Even if you feel your child is developmentally on track, it’s important to be in contact with your local Early Intervention Services. The National Dissemination Center for Children with Disabilities (NICHCY) compiles information by state.
“I have spent the past several weeks worrying about schools and who will teach Keith and how he will learn and what he will learn, etc. Today, I just sat and focused on what he has taught me.
First and foremost, he has taught me to appreciate the small steps and success in everything he does; from holding a spoon, to saying two words together, to walking up a step
To look at life through his eyes and see things that I would have never before seen
Not to take the most simple things for granted
Patience, patience, patience
That work is something we do, not who we are
That my real job in this life is to be a mother
That it's okay to sing in public
That I really don't care what other people think
That I would really love to be a stay at home mom
And finally, that my little Keith, is my special gift and it is him who teaches me the important things in life." Penny, Parent
The diagnosis can come at varying ages. Regardless of when your child was diagnosed, the first few days following the diagnosis are often the hardest. You may be confused, sad, scared or even angry to find out that your child has a genetic condition. Some people accept the diagnosis and immediately move along to find what to expect next. Others experience the classic stages of grief. Whatever your response to the diagnosis, please know that there is no "right way" to react and you should not feel guilty about being sad or angry. Also, know that many times one parent reacts differently than the other.
As you read through all of this information, we hope that first and foremost you consciously make an effort to see your child as your child first and not see "Williams syndrome" first. Your child is the same child you fell in love with. Your dreams are the same. The journey to reach those dreams may just be a little different than you expected. It can be overwhelming to have your child diagnosed with a genetic condition. Our hope isthat you find answers to many of your questions throughout our website and inspiration through reading about stories with families that have children with Williams syndrome.
“Yesterday was our three year anniversary of our WS Diagnosis. I forgot. I never even gave it a thought until I saw heard someone else mention their anniversary of diagnosis. I thought about the date and realized it was yesterday. Seems like so long ago. I searched for months for answers. I took Keith to every doctor imaginable. Finally, our last stop...the Geneticist. I truly did not expect answers there. I assumed that people with genetic issues had a profound look about them. I didn't see that in Keith. I certainly see it now.
The Geneticist told us almost immediately that she suspected Williams. She gave us information that included pictures of children with Williams. I knew immediately. It was like reading Keith's life story and seeing his twin siblings. I remember walking around in a fog for two weeks waiting for the FISH test results.
Now, I feel like an old pro at this Williams thing. I still have my moments, but I think it's more about worrying that I am making the right choices for him. I have accepted who Keith is and what may or may not lie ahead for him. He's happy, so that makes me happy. I'm glad yesterday was just another day. I'm glad I forgot. It means it's okay now.” Penny, Parent
So, where do you go from here? Broadly speaking, there are a few things you can do early in your child’s life to make the journey easier for you and your child:
Get Informed. Information is power. You are your child’s best advocate. Read through all the sub-sections of Medical Information on this website. Medical issues in Williams syndrome can range from mild to severe and it is vital that you are aware of all potential complications that may arise.
Get Medical Support. It is critical that your child have a complete cardiovascular evaluation to assess any cardiac and/or vascular issues. Williams syndrome can affect multiple organs in the body and complete evaluation and subsequent referral to appropriate specialists should be provided. It is important to establish a relationship with a pediatrician who has experience with children who exhibit developmental delays.
Most times, your pediatrician will be the one to make qualified referrals to other medical doctors and specialists. There is a link provided below titled, "Healthcare Supervision for Children with Williams Syndrome" and it should be thoroughly reviewed by parents and caregivers as well as provided to your child's physicians. This is an in-depth informational article on the varying complications of Williams syndrome, how often to evaluate each issue and special considerations to be aware of.
Get Peer Support. Sometimes the best support for parents is to reach out to other families who have "been there." You can email us at info@wschanginglives.org and we will connect you to a fellow parent of a child with Williams syndrome.
We also encourage you to become part of Williams Syndrome Changing Lives Foundation Facebook community by "liking" us on Facebook.
Get Professional Services. It’s important for you to contact your county or state social service office to enroll your child in "Early Intervention Services" if your child is under age 3. For children or individuals diagnosed at an older age, it is still important to identify any developmental and/or therapeutic needs. Each state has different agencies dedicated to ensuring all children needing early services receive them. Even if you feel your child is developmentally on track, it’s important to be in contact with your local Early Intervention Services. The National Dissemination Center for Children with Disabilities (NICHCY) compiles information by state.
“I have spent the past several weeks worrying about schools and who will teach Keith and how he will learn and what he will learn, etc. Today, I just sat and focused on what he has taught me.
First and foremost, he has taught me to appreciate the small steps and success in everything he does; from holding a spoon, to saying two words together, to walking up a step
To look at life through his eyes and see things that I would have never before seen
Not to take the most simple things for granted
Patience, patience, patience
That work is something we do, not who we are
That my real job in this life is to be a mother
That it's okay to sing in public
That I really don't care what other people think
That I would really love to be a stay at home mom
And finally, that my little Keith, is my special gift and it is him who teaches me the important things in life." Penny, Parent
