I do not have a child who wanders, but I know a family who contends with this issue frequently. This is by far the only comprehensive tool kit I have seen for Wandering. It is an issue that hits close to home, so I thought it was important to share the link to the tool kit.
Big Red Safety Toolkit
Thursday, July 31, 2014
Friday, July 25, 2014
Developmental Pediatrician Appointment
After 5 years of waiting lists I will finally have my son properly evaluated by a developmental pediatrician! We are not going to the place I have been on a waiting list for, but still we have an appointment in September of 2014!!
The first thing I am going to ask them do is give us a documented Autism Spectrum Disorder diagnosis. The psychologist who initially diagnosed my son did not provide any medical reports, only a 2 paragraph letter stating she diagnosed my child with ASD and a recommendation that we apply for SSI.
I am also going to ask for the neurologist referral. I may not get the referral, but asking won't hurt. Given the family medical history I am pretty confident they will want me to explore the option.
I know I am not going to have all of my questions answered, but I am going to make sure a few are answered! Honestly my main concern is the behavioral "issues" and the educational anxiety. I am so sick of teachers telling me my child struggles with anxiety. What is causing his anxiety? His educational setting, distractions, and disruptive peers.
I am also going to tell them since getting in contact with Unique and GARD I have found more resources and support then I could ever imagine! If they have no idea of what either organization is, they will after I see them.
Ideally the outcome would include a treatment plan, but for now I am just relieved that my child will be evaluated. With the properly documented diagnosis and medical reports completed my family will be able to access the resources available in our community.
The first thing I am going to ask them do is give us a documented Autism Spectrum Disorder diagnosis. The psychologist who initially diagnosed my son did not provide any medical reports, only a 2 paragraph letter stating she diagnosed my child with ASD and a recommendation that we apply for SSI.
I am also going to ask for the neurologist referral. I may not get the referral, but asking won't hurt. Given the family medical history I am pretty confident they will want me to explore the option.
I know I am not going to have all of my questions answered, but I am going to make sure a few are answered! Honestly my main concern is the behavioral "issues" and the educational anxiety. I am so sick of teachers telling me my child struggles with anxiety. What is causing his anxiety? His educational setting, distractions, and disruptive peers.
I am also going to tell them since getting in contact with Unique and GARD I have found more resources and support then I could ever imagine! If they have no idea of what either organization is, they will after I see them.
Ideally the outcome would include a treatment plan, but for now I am just relieved that my child will be evaluated. With the properly documented diagnosis and medical reports completed my family will be able to access the resources available in our community.
Monday, July 21, 2014
Summer 2014 update.
I have not been able to update because my internet access has been limited. I contacted the Genetic and Rare Diseases (GARD) Information Center, and their response was beyond anything I could imagine! The phone call I received in response to my email boosted my confidence and hope. They provided contact information for a few researchers, which is more then the genetics specialist we see here in Syracuse had to offer. They also refereed me to a blood bank of sorts in which researchers will have access to. I simply provide a blood sample and whenever a researcher wants to conduct a study that pertains to our chromosome disorder they will use the blood. I had no idea such a place existed! I will elaborate more once I contact the researchers. Even if they appear to be dead ends thay may lead to other open doors or opportunities.
Aside from that my son is participating in a local parks and recreation program, and has done exceptionally well. I have not received any phone calls to pick him up. The majority of the kids are typical, and none have bullied or harassed him because of his differences. It is a huge step for him. It is nice to have part of the day to myself. I have been able to exercise and apply for jobs. I have also done a lot of cleaning and organizing.
Well I hope you all are having an enjoyable summer. I have a lot to do today, so I am going to cut this short. Just remember there is always a new door when one is closed. I keep advocating and perusing any lead I find. Eventually the hard work is going to pay off.
-Patricia
Aside from that my son is participating in a local parks and recreation program, and has done exceptionally well. I have not received any phone calls to pick him up. The majority of the kids are typical, and none have bullied or harassed him because of his differences. It is a huge step for him. It is nice to have part of the day to myself. I have been able to exercise and apply for jobs. I have also done a lot of cleaning and organizing.
Well I hope you all are having an enjoyable summer. I have a lot to do today, so I am going to cut this short. Just remember there is always a new door when one is closed. I keep advocating and perusing any lead I find. Eventually the hard work is going to pay off.
-Patricia
Monday, July 14, 2014
Genetic Mutations
Well I figured the easiest way to do this was to repost and excerpt from my Unqiue Facebook group introduction. "Hello everyone. I am going to take a moment to introduce myself, and my child. The most important thing is that my child and I have a 1.10mb loss (deletion) of 12q13.13, and several other micro losses and gains in our DNA. The losses are from chromosomes 2q32.2, 6p21.1, 8p11.23, 14q11.2, 17q21.31, and Xp22.33. The gains are on chromosomes Xq11.1, and Xq28. There is unclear clinical significance for all of our DNA losses and gains (according to my genetics counselors). My child and I are the only 2 clinically diagnosed in the world with the 12q13.13 deletion (Microarray Result 48,681,290-49,784,059)."
These are the results of the Microarray and FISH analysis done 3 years ago. Still my child and I are the only 2 clinically diagnosed with the 12q13.13 deletion. If you would like more information about the sizes of the micro losses and gains just ask.
In further review it has been determined that my son is a carrier of a rare autosomal recessive iron metabolism disorder.
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=209981
These are the results of the Microarray and FISH analysis done 3 years ago. Still my child and I are the only 2 clinically diagnosed with the 12q13.13 deletion. If you would like more information about the sizes of the micro losses and gains just ask.
In further review it has been determined that my son is a carrier of a rare autosomal recessive iron metabolism disorder.
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=209981
Unique
Well once again insomnia is plaguing me. I went through the private Facebook group I belong to and searched every chromosome deletion and duplication we have. I found other families with the deletions, different sizes, but still. So finding other families led to more information.
Finally information about the Xq28 duplication. Funny a genetics counselor couldn't tell me ANYTHING about the chromosome, but you can google legit articles about it. These links gave me some insight on the Xq28 duplication, also known as a MECP2 Duplication syndrome.Xq28 diplications, Rarechromo.org
mecp2-duplication-syndrome
To sum it up the Xq28 duplication the Unique (rarechormo.org) pdf states "Most common features of a duplication of Xq28 in boys.
Every boy with an Xq28 duplication is unique and so each person will have different
medical and developmental concerns. Additionally, no one person will have all of the
features listed in this guide. However a number of common features of duplications of
Xq28 have emerged:
Hypotonia (floppiness or unusually low muscle tone) in newborn babies and infants
Delayed or absent speech and language
Learning (intellectual) disability
Progressive neurological conditions such as seizures and spasticity (a disorder in
which certain muscles are continuously contracted. This contraction causes
tightness and stiffness of the muscles and may interfere with gait and movement)
Recurrent respiratory infections"
My son has low muscle tone, delayed speech and language, and Autism and ADHD (intellectual disabilities). He also has had constipation issues, which is also linked to Xq28. Another point unqiue made is that "Children with an Xq28 duplication are typically pleasant, calm and sociable. However, they are as vulnerable to frustration as other children with a communication difficulty and temper tantrums and aggression can present carers with challenges." My son was defiantly frustrated with his communication difficulties and tantrumed until he was 7 because of the speech impairment.
Also "Behavior within the autistic spectrum has been reported both in the published medical literature and in a number of Unique children. Some children do not have a diagnosis of autistic spectrum disorder (ASD) but show some autistic tendencies or traits." My son does had an ASD diagnosis, and has many of the traits like unable to make eye contact and repetitive behaviors. I finally have some "significant clinical data" to provide the Genetics counselors with. Amazing how a Google search can turn up an article that is significant to my sons diagnosis.
Finally information about the Xq28 duplication. Funny a genetics counselor couldn't tell me ANYTHING about the chromosome, but you can google legit articles about it. These links gave me some insight on the Xq28 duplication, also known as a MECP2 Duplication syndrome.Xq28 diplications, Rarechromo.org
mecp2-duplication-syndrome
To sum it up the Xq28 duplication the Unique (rarechormo.org) pdf states "Most common features of a duplication of Xq28 in boys.
Every boy with an Xq28 duplication is unique and so each person will have different
medical and developmental concerns. Additionally, no one person will have all of the
features listed in this guide. However a number of common features of duplications of
Xq28 have emerged:
Hypotonia (floppiness or unusually low muscle tone) in newborn babies and infants
Delayed or absent speech and language
Learning (intellectual) disability
Progressive neurological conditions such as seizures and spasticity (a disorder in
which certain muscles are continuously contracted. This contraction causes
tightness and stiffness of the muscles and may interfere with gait and movement)
Recurrent respiratory infections"
My son has low muscle tone, delayed speech and language, and Autism and ADHD (intellectual disabilities). He also has had constipation issues, which is also linked to Xq28. Another point unqiue made is that "Children with an Xq28 duplication are typically pleasant, calm and sociable. However, they are as vulnerable to frustration as other children with a communication difficulty and temper tantrums and aggression can present carers with challenges." My son was defiantly frustrated with his communication difficulties and tantrumed until he was 7 because of the speech impairment.
Also "Behavior within the autistic spectrum has been reported both in the published medical literature and in a number of Unique children. Some children do not have a diagnosis of autistic spectrum disorder (ASD) but show some autistic tendencies or traits." My son does had an ASD diagnosis, and has many of the traits like unable to make eye contact and repetitive behaviors. I finally have some "significant clinical data" to provide the Genetics counselors with. Amazing how a Google search can turn up an article that is significant to my sons diagnosis.
The other link is helping, and provides similar information. "MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Most people with this condition also have weak muscle tone in infancy, feeding difficulties, poor or absent speech, seizures that may not improve with treatment, or muscle stiffness (spasticity)." All except the last 2 fit my child again.
I wish I had a dollar for every time I taught a doctor something new. I guess they just don't Google in med school. I am going to print out copies of these articles and mail them to the medical professionals who failed to provide me ANY "Clinically significant" information.