TheMighty.com has asked everyone to write a letter to the specific disability or disease that you or a loved one is living with. This is my letter to my sons PTEN Deletion.
Dear Deletion,
My mother-instinct told me you were with us long before we were formally introduced. You witnessed the birth of my precious child. His head and body too large (with you) to come into this world without the help of modern technology. You stood there silently as the doctors marveled at the giant infant in my arms. I carried you, I rocked you, I held your tremnedous weight in my arms every day. You tried to prevent my tiny treasure from hitting his milestones. I wondered if your weight would be too much for him, but as he pushed forward learning to walk and talk I learned to be greatful for things other parents took for granted. As you tested his ability to overcome obsticals we both became stronger. He discovered the ability to work hard and accomplish great things and I became patient and more compassionate.
I remember the day we were first introduced. My husband and I sat in a tiny room while medical experts and social workers revealed your true identity. At first I was thrilled to hear your name. Thrilled to finally learn about our sons mysterious cohort. When they told us that someday you would likely give him cancer and that you were the reason that he now suffered from autism, my feelings for you changed. I hated you. I feared you. I wished you never existed and I prayed that you would disappear.
You stood inbetween me and the other mothers at the library, the park, and the playgroups. You made them feel awkward as they boasted about their childs latest accomplishments. They would catch a glimpse of you and and their look of pride would turn into something uncomfortable as they would stammer off an appology or offer the reassurance "not to worry" because "susie is just gifted...and most kids her age can't do that." I felt so alone and I didn't think I could bear watching you hold my darling in your possessive and isolating grasp, preventing him from playing with others. Making it impossible for him to run or jump like the other kids. Your chaotic presence overwhelming his senses, making it difficult for him to concentrate, leaving him unable to find the words to express himself. Did you realize that his love and compassion for others would barrel over you? You could not stop a child who offers such joy from being loved.
You have taunted me with your power. You have already threatened to take his life and the memory of that day still haunts me. Anxiety attacks me while I sleep and I wake unable to breathe. When I think of how incapable I was of protecting him from you I feel worthless as a mother and weak. On the other hand when I look at the scars you left behind I am reminded of his strength and it renews mine. You should know, I will never give up. I will do everything I can to protect my baby, and will fight with him no matter what.
I've learned from watching my son navigate through this world with your companionship. You've educated me on topics ranging from special education to civil liberties. You've reminded me that the value of a person does not lie in their ability throw a football or make honor roll. You have taught me not to judge a person by their weaknesses. You have shown me that there are no limits on any individuals possibility. You've introduced me to a community of people with special needs and given me a greater understanding and compassion for my fellow man espeacially those with physical or intellectual disablities.
You do not dicate our lives, although your challenges have forged us into something beautiful and strong. I have stopped wishing you would magically disappear because I know you will not. Now my hopes are for medical advances that will disarm your threats. I write this letter to you in hopes that more people will learn your name. In hopes that more funding and research will find solutions to the trials you've promised for us.
Wednesday, March 25, 2015
Thursday, July 26, 2012
Early Educational Services (Early Intervention / Preschool)
Our son participated in the state's educational services from a very young age. The first program we participated in was Early Intervention Services. I believe Early Intervention is available to any child from birth to age 3 who has not / or who is expected to not meet developmental milestones due to a medical condition. Although we did not have a diagnosis we were able to qualify because Noah's doctor reported that Noah had a speech delay due to multiple ear infections. This program does receive state funding, but it is not free. The cost of the program is determined by your family's income. I think Noah started this program around 18 months.
I was directed to the program by a parent with a child in the special needs community. At that point I didn't even consider our situation "special needs," but I'm glad I applied. I was told by a my sons ENT that we "should not apply" because we "would not qualify". This just goes to show what a wonderful resource parents are. Parents are self taught experts on available services and treatments for their kids.
Once we got accepted to the Early Intervention Program they evaluated us and we qualified for physical therapy, occupational therapy, and playgroup. Noah loved the one on one attention he received from his therapists, and the playgroup was awesome! Playgroup was great mommy & me time. It was structured with play time, song time, snack time, and story time. He loved it, and I loved the opportunity to meet other moms and dads who were dealing with similar struggles. It was such an awesome experience, I wish there was something like that available all of my children.
Another great thing about Early Intervention is that when your child turns 3 they arrange for you to be evaluated for Preschool Services. As a parent of a special needs child you always have a long list of things to research. I found it really refreshing to have someone point me in a direction for a change. If your child continues to qualify they will help you set up your individualized education plans, and other services that will follow your child through school. (These services are fully funded, and are free for those who qualify)
The state funded preschool program can be a wonderful experience for your child. The preschool is an inclusive environment which means your child with be educated with their non disabled peers. I believe that working with peers of all different abilities is a positive experience. It educates the kids about diversity and acceptance as well as giving them a sense self awareness and offering them the opportunity to serve others.
On my last visit to my son's school I was touched to see him serving another child by pushing her wheelchair into the classroom. My son has low muscle tone and physical activity is difficult for him. There have been many times when his muscles weren't strong enough and he needed assistance climbing stairs, playing on a jungle gym, or trying to ride a bike. What an amazing experience it is for him to able to be the aid. It almost makes me cry. I love that all the kids have a chance to shine here. Every child has something valuable to offer their peers.
State funded programs are wonderful if you get good educators and workers. Unfortunately, if your teacher is burnt out, or your worker is apathetic, you are stuck with them based on where you live. It's good idea to get into the classroom and observe your child's services. This way you can know if you should be seeking additional or alternative treatments for your child. In general I think the experience was good for my son. His teacher, Miss Holly, at North Point Elementary school was wonderful. She really understands and cares for her students. She see their strengths through their disabilities and helps them excel.
I was directed to the program by a parent with a child in the special needs community. At that point I didn't even consider our situation "special needs," but I'm glad I applied. I was told by a my sons ENT that we "should not apply" because we "would not qualify". This just goes to show what a wonderful resource parents are. Parents are self taught experts on available services and treatments for their kids.
Once we got accepted to the Early Intervention Program they evaluated us and we qualified for physical therapy, occupational therapy, and playgroup. Noah loved the one on one attention he received from his therapists, and the playgroup was awesome! Playgroup was great mommy & me time. It was structured with play time, song time, snack time, and story time. He loved it, and I loved the opportunity to meet other moms and dads who were dealing with similar struggles. It was such an awesome experience, I wish there was something like that available all of my children.
Another great thing about Early Intervention is that when your child turns 3 they arrange for you to be evaluated for Preschool Services. As a parent of a special needs child you always have a long list of things to research. I found it really refreshing to have someone point me in a direction for a change. If your child continues to qualify they will help you set up your individualized education plans, and other services that will follow your child through school. (These services are fully funded, and are free for those who qualify)
The state funded preschool program can be a wonderful experience for your child. The preschool is an inclusive environment which means your child with be educated with their non disabled peers. I believe that working with peers of all different abilities is a positive experience. It educates the kids about diversity and acceptance as well as giving them a sense self awareness and offering them the opportunity to serve others.
On my last visit to my son's school I was touched to see him serving another child by pushing her wheelchair into the classroom. My son has low muscle tone and physical activity is difficult for him. There have been many times when his muscles weren't strong enough and he needed assistance climbing stairs, playing on a jungle gym, or trying to ride a bike. What an amazing experience it is for him to able to be the aid. It almost makes me cry. I love that all the kids have a chance to shine here. Every child has something valuable to offer their peers.
State funded programs are wonderful if you get good educators and workers. Unfortunately, if your teacher is burnt out, or your worker is apathetic, you are stuck with them based on where you live. It's good idea to get into the classroom and observe your child's services. This way you can know if you should be seeking additional or alternative treatments for your child. In general I think the experience was good for my son. His teacher, Miss Holly, at North Point Elementary school was wonderful. She really understands and cares for her students. She see their strengths through their disabilities and helps them excel.
Monday, February 13, 2012
Autism Awareness
My son is 4 years old. He has a PTEN Deletion and has been diagnosed with Autism PDD. I worry about him starting kindergarten next year. There are many parts of his disability that pull at my heart strings. It was difficult to hear a doctor express concerns over his intellectual abilities, and physical abilities. It even more difficult to hear that he was at high risk of cancer, and also very hard to accept the diagnosis of Autism. Even with all of these trials the one thing that cuts the deepest is chance that these differences might isolate him and prevent him from finding friendship. He is the sweetest child, and longs so much for a good friend.
I recently read a blog by a mother whose child faced cerebral palsy. She lamented that the greatest trial her son faced was that of isolation. It frightened me, and I began to search the web. Many parents suggest that the best tool is to come to the school and educate your child's peers about their condition. It seems difficult task to try to make children understand something that adults struggle to understand.
However in my search I found a blog where one mom shares her lesson plan on how to educate her sons class on Autism. Her explanation was so clear and logical, I feel like everyone who knows a child diagnosed with Autism should read this post. It was called "A hair-dryer kid in a toaster-brained world." When you get to the bottom of her post click on the link "Question 2" and continue reading. Its such a simple way to explain the world of a child with Autism.
I recently read a blog by a mother whose child faced cerebral palsy. She lamented that the greatest trial her son faced was that of isolation. It frightened me, and I began to search the web. Many parents suggest that the best tool is to come to the school and educate your child's peers about their condition. It seems difficult task to try to make children understand something that adults struggle to understand.
However in my search I found a blog where one mom shares her lesson plan on how to educate her sons class on Autism. Her explanation was so clear and logical, I feel like everyone who knows a child diagnosed with Autism should read this post. It was called "A hair-dryer kid in a toaster-brained world." When you get to the bottom of her post click on the link "Question 2" and continue reading. Its such a simple way to explain the world of a child with Autism.
Her experience really gives me hope. It sounded like the kids were very receptive. I pray we will find the same type of children in our neighborhood, and escape the trial of isolation that sadly many special needs children face daily.
I was excited to see that Lady Gaga is starting a foundation called "Born This Way" to help promote awareness and acceptance for children with Rare Diseases. I hope that it has an deep impact to improve the lives of special needs individuals.
Cancer Risks
I think every parent realizes that their child will face a variety of problems, illnesses, and sorrow in their lifetime. Even with that knowledge it's still hard to hear that your child will likely have to deal with cancer. The good news is that the cancers shown to correlate with PTEN are curable if caught early. Try to remember that information is power.
I recently read an article entitled "Lifetime Cancer Risks in Individuals with Germline PTEN Mutations." This study followed all types of PTEN mutations including: insertions, deletions, indels, splice site mutations, and the category we fall under "large deletions". The article was published by the American Association of Cancer Research, and most of it went over my head. However I was able to glean a few details which I've compiled into this simple list. The list includes the cancers associated with PTEN mutations/ the percent chance that someone with a PTEN will face this type cancer/ and the age to start screenings:
I recently read an article entitled "Lifetime Cancer Risks in Individuals with Germline PTEN Mutations." This study followed all types of PTEN mutations including: insertions, deletions, indels, splice site mutations, and the category we fall under "large deletions". The article was published by the American Association of Cancer Research, and most of it went over my head. However I was able to glean a few details which I've compiled into this simple list. The list includes the cancers associated with PTEN mutations/ the percent chance that someone with a PTEN will face this type cancer/ and the age to start screenings:
- Breast Cancer (Females with PTEN mutations 85.2%) - Cases start appearing at 30 years of age.
- Epithelial Thyroid (35.2%) Cases start appearing in infancy
- Endometrial (28.2%) Cases start appearing at 25 years of age.
- Colorectal (9%) Cases begin appearing around age 40
- Kidney (33.6%) Cases begin appearing around age 40
- Melanoma (6%) Earliest case documented was age 3
Tuesday, December 20, 2011
Jumping for Joy
What a wonderful Christmas present! A gift I'd wanted for so long and I wasn't sure would come. Noah jumped with both feet off the ground. A real jump. It came unexpectedly wrapped in a little boy and tied with a smile. What a happy, happy day. Merry Christmas!
Saturday, December 17, 2011
Embarking on Autism
I've been told that some of my son's behaviors correspond with autism. Because of this I asked many doctors if he should be evaluated. The answer was always "No, your son does NOT have autism." They always noted that he was too social, loving, and easy going. I was a little disappointed that they didn't want to evaluate him. I thought that perhaps some of therapies or services available for autistic kids might be helpful for our son too. However all of the doctors seemed to agree we did not have autism.
Here is a list of some of the characteristics that seemed to correlate with autism:
Eventually I stopped asking about autism. Just when I'd put it out of my mind his doctors started to suggest having him evaluated. Our new geneticist told us that many kids with PTEN mutations also have autism. Since deletions are so rare there is not enough information to rule out a strong correlation with deletions as well. I was shocked, nervous, and excited. He recommended taking Noah to facility called "Children With Special Healthcare Needs" for an evaluation. I had to wait over two months to get an appointment.
I had been told that the evaluation would include examining how our son plays with toys. I told Noah we were going to go play toys with some nice doctors. When we got to our appointment they pulled us into a doctors office with no toys. Noah started to protest. He wanted to go back to the waiting room where there were lots of toys. The doctor started asking me about Noah's PTEN deletion and I started to explain his condition. Noah was very irritated and started whining and pulling on my arm. He was expecting toys. Then just as quickly as so many others had diagnosed him autism free, he was diagnosed. Autism/PDD.
This was the full extent of the evaluation:
Doctor: "Hi Noah"
Noah: "Hi"
Doctor: "Do you go to school"
Noah: "Yeeesss"
Doctor: "What do you learn at school"
Noah: "Opposites.... Mom I want to go play outside"
Doctor: "You want to go outside and play with your Aunt?"
Noah "Yes!"
Doctor: "Okay go outside and play"
Noah: "OKAY" (Happily marches out of the room)
Diagnosis = Autism PPD
I'm not sure how to feel about this not so thorough evaluation. I hate to diagnose my son with something he does not have. On the other hand if there is some type of autism treatment that would help.... that's great!
I asked the doctor what to do next. He said that this was not something you go get treatment for, its just something you work on in your daily life. He suggested:
Despite the lack of information offered by the doctor I do believe there are treatments for autism. I've heard of things like ABA and Son-Rise Methods. I don't know what they are, but I know there is something out there.
Once again I feel disappointed in the medical industry. It seems that once again I am embarking on a unguided expedition. They give you a diagnosis, and no instructions on how to proceed. It will interesting to figure out where this will take us. I hope it turns out to be more then just a label to stick on an IEP.
Here is a list of some of the characteristics that seemed to correlate with autism:
- Speech Delay
- Echolalia (He likes to quote movies and books. He often repeats the script of whatever TV show he watched that day)
- Social Problems (He tries to hug everyone and has a hard time with conversations)
- He Self Stimulates (Usually By Humming)
- Dosent always make eye contact while talking
- Has a hard time following directions ( Doesn't seem to understand when I point to something more then an arms length away)
Eventually I stopped asking about autism. Just when I'd put it out of my mind his doctors started to suggest having him evaluated. Our new geneticist told us that many kids with PTEN mutations also have autism. Since deletions are so rare there is not enough information to rule out a strong correlation with deletions as well. I was shocked, nervous, and excited. He recommended taking Noah to facility called "Children With Special Healthcare Needs" for an evaluation. I had to wait over two months to get an appointment.
I had been told that the evaluation would include examining how our son plays with toys. I told Noah we were going to go play toys with some nice doctors. When we got to our appointment they pulled us into a doctors office with no toys. Noah started to protest. He wanted to go back to the waiting room where there were lots of toys. The doctor started asking me about Noah's PTEN deletion and I started to explain his condition. Noah was very irritated and started whining and pulling on my arm. He was expecting toys. Then just as quickly as so many others had diagnosed him autism free, he was diagnosed. Autism/PDD.
This was the full extent of the evaluation:
Doctor: "Hi Noah"
Noah: "Hi"
Doctor: "Do you go to school"
Noah: "Yeeesss"
Doctor: "What do you learn at school"
Noah: "Opposites.... Mom I want to go play outside"
Doctor: "You want to go outside and play with your Aunt?"
Noah "Yes!"
Doctor: "Okay go outside and play"
Noah: "OKAY" (Happily marches out of the room)
Diagnosis = Autism PPD
I'm not sure how to feel about this not so thorough evaluation. I hate to diagnose my son with something he does not have. On the other hand if there is some type of autism treatment that would help.... that's great!
I asked the doctor what to do next. He said that this was not something you go get treatment for, its just something you work on in your daily life. He suggested:
- Work on his conversation skills,
- practice eye contact,
- practice socializing,
- give him plenty of opportunities to socialize
- coach him on what to say.
- Inform the school of this diagnosis so they can include social aspects in his next IEP.
Despite the lack of information offered by the doctor I do believe there are treatments for autism. I've heard of things like ABA and Son-Rise Methods. I don't know what they are, but I know there is something out there.
Once again I feel disappointed in the medical industry. It seems that once again I am embarking on a unguided expedition. They give you a diagnosis, and no instructions on how to proceed. It will interesting to figure out where this will take us. I hope it turns out to be more then just a label to stick on an IEP.
Thursday, December 1, 2011
Happy Holidays
Hope everyone is enjoying the holiday.
With Love Christmas Card
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