I just became a registered nurse, and my ten-year-old son is infant-like, has frequent meltdowns, and cannot stand without support. He is missing a piece of DNA (chromosome 9q22.2) but we are unsure if it made him disabled. He has a diagnosis of severely multiply impaired, paucity of white brain matter, partial agenesis of the corpus callosum, microcephaly, deformities of the ankle and foot, and Autism.
Amy: I hope your received your email. I tried to find your facebook page and notify you that way. I read your blog and really enjoy it so nominated you for a Liebster award. Please check it out here: http://outoneear.com/liebster-award/ scroll to the end to see your name. I've linked to your blog. Rules are at top.
HI Amy. My name is Veva Roberts, and I am contacting you because I have a nephew/adopted brother who has a similar condition. He was very delayed when he was a baby. He did walk, babble and the baby things, but he seemed to stop there for such a long time. We were told that his condition was due to physical abuse as a baby. I went to Las Vegas to pick him and his 4 month old brother up when he was just 2 years old. He is now 15 and still has many milestones to get to, but he continues to throw fits as well as having accidents occasionally in his pants.His MRI shows that the right and left sides of his brain in not connected with the nerve or tissue matter that is normally there. I have been looking for some kind of information about how to essentially deal properly with this disorder and searching for others who are successfully teaching kids world lessons to better their future. We are fighting a loosing battle with the school system in the sense of teaching him rather then simply giving him something to do while he is there. (Playing with toys) Does this sound to you as if the Dx you beautiful boy was given, and if so, What have you been told the long term prognosis could be for children living with this will be able to grow to level wise? Thank you so much for reading this. I am simply looking for some kind of support for this wonderful and very loved 15 year old boy.
Thank you for posting. I've read through a bunch of your posts and these feelings really hit home. My son was diagnosed with Complete ACC and Dandy walker variant soon after birth.
While my wife was pregnant we've been to 24 prenatal ultrasounds and 1 prenatal MRI for a CCAM cyst forming next to his lung. They found this cyst by his lung at our 20 week ultrasound. My only question was, are the brain, spine, and heart ok? The answer from the doctor was yes.
Due to the ongoing cyst concern, 25 weeks later landed us in the NICU after he was born. On day two, they noticed that he was low toned and not as responsive as most babies. They suspected meningitis and they were insistent on doing the spinal tap, and what better did we know? The doctor said to do this, so we must put our faith in the doctors. To this day, I still detest myself and feel like I've failed my baby boy.
About a week into the NICU, a brain scan was done and the diagnosis of complete ACC and dandy walker variant was made. I recall getting the news on the phone from my wife, because I had to check into a hotel room. The hospital was over an hour from our house because of the lung specialists that we needed to have on standby for the possible breathing issues due to the lung mass.
When I picked up the phone, I could tell that my wife was at a loss of words and could only explain to me that something is wrong with the brain. But how? I asked the doctors if the brain was ok at week 20! I vaguely remember how numb I felt and the moments after seeing her and my mother are very suppressed in my memory.
The next couple of months we were transferred to pediatrics and then eventually to a children's hospital. We had our many challenges there, and we were finally able to bring the little one home after a full month.
We've put a complete stop to our original plan of relocating for my job from the east coast all the way to the west in light the situation. My wife has decided to stay at home full time to take care of the little one, while I was lucky to find a new job locally to transition right to.
On a day to day basis, your blog are like our feelings in words. Erik is only a year now, the list of unknowns are still ongoing. Behaviorally, he is no different than an infant. My wife is the primary care taker. Like you, she has stayed so strong day to day and week to week. All the OT's, PT's, countless number of doctors, etc etc. My parents have recently moved somewhat closer (2 hour flight away), and having her stay with us has given all of us some opportunities to cope. I recall one of your posts that you have a lot of good people in your life, and I strongly urge you to seek them out. While most of our family members and friends still don't understand what's wrong, there are good ones that understand we are going through a difficult time and are willing to help with what they can emotionally.
Thank you for posting, and I look forward to see what is new with Andy. Our little one just recently laughed for the first time when we tickled him and his voice just completely melts our hearts.
Hi Amy ! I am an ABA therapist and stumbled across your blog. It's heartbreaking to hear about your struggle but wonderful to see notes of hope and happiness across your life too. I wish you and your family all the best.
My son has very similar special needs. We adopted him at 11 months old. Our doctors did genetic testing and we found out he has MECP2 duplication syndrome. A very rare syndrome. It was only discovered in 2005. He will never talk, walk, or get beyond a 12 month level. He is over 2 and at a 6-9 month level right now, fed by a g-tube, and in a wheelchair.
Amy: I hope your received your email. I tried to find your facebook page and notify you that way. I read your blog and really enjoy it so nominated you for a Liebster award. Please check it out here: http://outoneear.com/liebster-award/
ReplyDeletescroll to the end to see your name. I've linked to your blog. Rules are at top.
warm regards,
linda atwell
http://outoneear.com
HI Amy. My name is Veva Roberts, and I am contacting you because I have a nephew/adopted brother who has a similar condition. He was very delayed when he was a baby. He did walk, babble and the baby things, but he seemed to stop there for such a long time. We were told that his condition was due to physical abuse as a baby. I went to Las Vegas to pick him and his 4 month old brother up when he was just 2 years old. He is now 15 and still has many milestones to get to, but he continues to throw fits as well as having accidents occasionally in his pants.His MRI shows that the right and left sides of his brain in not connected with the nerve or tissue matter that is normally there. I have been looking for some kind of information about how to essentially deal properly with this disorder and searching for others who are successfully teaching kids world lessons to better their future. We are fighting a loosing battle with the school system in the sense of teaching him rather then simply giving him something to do while he is there. (Playing with toys) Does this sound to you as if the Dx you beautiful boy was given, and if so, What have you been told the long term prognosis could be for children living with this will be able to grow to level wise? Thank you so much for reading this. I am simply looking for some kind of support for this wonderful and very loved 15 year old boy.
ReplyDeleteHi Amy,
ReplyDeleteThank you for posting. I've read through a bunch of your posts and these feelings really hit home. My son was diagnosed with Complete ACC and Dandy walker variant soon after birth.
While my wife was pregnant we've been to 24 prenatal ultrasounds and 1 prenatal MRI for a CCAM cyst forming next to his lung. They found this cyst by his lung at our 20 week ultrasound. My only question was, are the brain, spine, and heart ok? The answer from the doctor was yes.
Due to the ongoing cyst concern, 25 weeks later landed us in the NICU after he was born. On day two, they noticed that he was low toned and not as responsive as most babies. They suspected meningitis and they were insistent on doing the spinal tap, and what better did we know? The doctor said to do this, so we must put our faith in the doctors. To this day, I still detest myself and feel like I've failed my baby boy.
About a week into the NICU, a brain scan was done and the diagnosis of complete ACC and dandy walker variant was made. I recall getting the news on the phone from my wife, because I had to check into a hotel room. The hospital was over an hour from our house because of the lung specialists that we needed to have on standby for the possible breathing issues due to the lung mass.
When I picked up the phone, I could tell that my wife was at a loss of words and could only explain to me that something is wrong with the brain. But how? I asked the doctors if the brain was ok at week 20! I vaguely remember how numb I felt and the moments after seeing her and my mother are very suppressed in my memory.
The next couple of months we were transferred to pediatrics and then eventually to a children's hospital. We had our many challenges there, and we were finally able to bring the little one home after a full month.
We've put a complete stop to our original plan of relocating for my job from the east coast all the way to the west in light the situation. My wife has decided to stay at home full time to take care of the little one, while I was lucky to find a new job locally to transition right to.
On a day to day basis, your blog are like our feelings in words. Erik is only a year now, the list of unknowns are still ongoing. Behaviorally, he is no different than an infant. My wife is the primary care taker. Like you, she has stayed so strong day to day and week to week. All the OT's, PT's, countless number of doctors, etc etc. My parents have recently moved somewhat closer (2 hour flight away), and having her stay with us has given all of us some opportunities to cope. I recall one of your posts that you have a lot of good people in your life, and I strongly urge you to seek them out. While most of our family members and friends still don't understand what's wrong, there are good ones that understand we are going through a difficult time and are willing to help with what they can emotionally.
Thank you for posting, and I look forward to see what is new with Andy. Our little one just recently laughed for the first time when we tickled him and his voice just completely melts our hearts.
I'm so happy people can relate to the way I feel, and that my blog is helpful to others!
DeleteHi Amy ! I am an ABA therapist and stumbled across your blog. It's heartbreaking to hear about your struggle but wonderful to see notes of hope and happiness across your life too. I wish you and your family all the best.
ReplyDeleteMy son has very similar special needs. We adopted him at 11 months old. Our doctors did genetic testing and we found out he has MECP2 duplication syndrome. A very rare syndrome. It was only discovered in 2005. He will never talk, walk, or get beyond a 12 month level. He is over 2 and at a 6-9 month level right now, fed by a g-tube, and in a wheelchair.
ReplyDelete