My six year old son was diagnosed with Ring Chromosome 8 Mosiac close to his third birthday. I have yet to find another parent with a child with this genetic disorder but I do know that there is a very technical complicated way to describe it... I just doubt a mom or dad would ever sit down and type in all those letters, hyphenated number/letter combinations that denote this disorder. If I hadn't pushed so hard for genetic testing, I'm sure I would simply have a diagnosis of autism.
Truth be told - Josiah wouldn't have been approved for many of his therapies if it weren't for this diagnosis. Remember, I'm not a doctor. I'm a nurse but not one versed in genetic disorders or trained to be a developmental specialist. Instead, I'm a mom that knows how this chromosome defect is reflected in her son.
The genetic specialist that Josiah saw when he was diagnosed told me that it is a wild guess as to his potential because we would be hard pressed to find another child with the same ratio of normal segments of chromosome 8 and sections of the genetic strand that have the "rings" which are pieces of genetic material that loop back onto the strand.
It is interesting that even his crossed eyes (strabismus) are associated with this genetic disorder - along with low muscle tone, sensory issues, learning disabilities, lack of coordination, fine and gross motor delays and processing issues. As you can tell by this general list - Josiah has a long history of speech delays, motor planning and sensory issues which led to problems with eating, sleeping, crossing "planes" especially midline plus communication issues.
For the longest time, our energies were focused on sensory issues and communication because meltdowns and trying to figure out he wanted or needed simply took up most of our time. Then we realized that his attention span was so short that he didn't even have the ability to carry most tasks out successfully until he started medication for ADHD.
It is still hard for him to sit long to eat or be read to... but some things (like church) seem to simply calm him down. The evenings though (once he has no medication helping him) he is very unfocused, irritated and hyperactive but over the last year - we've worked hard to get most of our "teachable" moments during the day when he is more focused and calm.
I believe the ADHD is something he would have had with or without the genetic disorder because of such a strong history of it on both sides of the family. Few of the adults with it take anything but without medication - Josiah was physically too hyperactive and impulsive to keep safe without a great deal of help.
Now that he is six years old, in first grade - I'm hoping we can get a better picture of his cognitive ability so we can help him learn things HIS way. Basically - because he does not "perform" on request for anyone other than me (and that's iffy at best!) we don't know what he really knows until we catch him showing us what he knows. Like weather and maps which he loves or explaining how roller coasters work. He can get stumped on words or putting a sentence together so we understand but this is one area that is coming along naturally as he spends more time with highly verbal kids.
Right now - his behavioral diagnosis is pervasive developmental delay - most likely Asperger's but until we can help him establish a relationship with someone that can "test" his abilities... it's simply best for us to focus on helping him build relationships and relate to others - build connects because it seems to NOT come naturally for him.
If you think about it - it doesn't always come naturally for alot of us :-)
Tam
Monday, September 24, 2007
Sunday, September 23, 2007
Take Your Baseball Cap Off Inside and Other Bits of Foolishness
Usually, I get Josiah to give up his yellow baseball hat once we get inside church but today I had to put it back on his head during the singing. Sitting there - his head down, arms criss crossed up over his head to cover his ears and back of his head.
Not moving. No sound. Just frozen that way. Couldn't get him to answer me but I tracked where his eyes were locked - to a window with a house fly buzzing around the corner. I whispered assurances to him but he wouldn't lower his arms. I asked if he needed his yellow hat and he nodded. Done deal. Once the cap was on his head, he was looking around at everyone and moving his hands to the music.
Even now, back in my hometown - most of the men here were baseball caps with store or farm logos but in church, there are no hats. Except my Josiah. Part of me wants to explain that I'm not just being indulgent.
Instead, I'm trying to make being in church a safe place for him to be. I showed him how a real piano works, seeing the hammers inside and the foot pumps - he was facinated but then he wouldn't leave. I took him up front for a bit so he could watch the pastor's wife play a song - then later I caught him moving his fingers to the piano playing. He's always been facinated with his hands and fingers.
I am not thinking he could actually play the piano or be ready for lessons but seeing how he responds to the movement of hands and feet to create music was incredible.
The Bits of Foolishness?
Worrying that I couldn't be alone with the boys in church. With my mom out of town, I worried that I couldn't handle the boys through the transitions for Sunday School, Big Church and Junior Church. Either they did remarkably well or we all did because it went great without any meltdowns or crankiness until we left church. Sensory Issues Prevail... The strong winds made Josiah panic on the way to the car but despite dropping the bibles as I chased him - the whole thing went off without a hitch. :-)
Tam
Not moving. No sound. Just frozen that way. Couldn't get him to answer me but I tracked where his eyes were locked - to a window with a house fly buzzing around the corner. I whispered assurances to him but he wouldn't lower his arms. I asked if he needed his yellow hat and he nodded. Done deal. Once the cap was on his head, he was looking around at everyone and moving his hands to the music.
Even now, back in my hometown - most of the men here were baseball caps with store or farm logos but in church, there are no hats. Except my Josiah. Part of me wants to explain that I'm not just being indulgent.
Instead, I'm trying to make being in church a safe place for him to be. I showed him how a real piano works, seeing the hammers inside and the foot pumps - he was facinated but then he wouldn't leave. I took him up front for a bit so he could watch the pastor's wife play a song - then later I caught him moving his fingers to the piano playing. He's always been facinated with his hands and fingers.
I am not thinking he could actually play the piano or be ready for lessons but seeing how he responds to the movement of hands and feet to create music was incredible.
The Bits of Foolishness?
Worrying that I couldn't be alone with the boys in church. With my mom out of town, I worried that I couldn't handle the boys through the transitions for Sunday School, Big Church and Junior Church. Either they did remarkably well or we all did because it went great without any meltdowns or crankiness until we left church. Sensory Issues Prevail... The strong winds made Josiah panic on the way to the car but despite dropping the bibles as I chased him - the whole thing went off without a hitch. :-)
Tam
Saturday, September 22, 2007
Dramatic Rescue In The Pumpkin Patch
Okay, it wasn't so much dramatic as it was TRAUMATIC (at least for me!) but we survived a trip to the pumpkin patch.
Since I've moved back home to the place where I grew up - I've tried very hard to recapture that part of me that was the mother I was the first time around.
The girls had loved our tradition of visiting local pumpkin patch where hundreds of new pumpkins in all shapes and sizes spread all around the farm stand with cool scare crows and antique tractors tucked here and there. The farm store filled with cool halloween displays. I knew it wouldn't be the same kind of trip with the boys but I didn't want to jinx it.
Instead, I pretended it was my first time there at the farm...
The sun had come out, the wind blew wildly but warming us. The trees are already a mixture of red, orange and yellow with leaves swirling all around us. I love the smooth feel of the bright orange pumpkins and try to get the boys to touch them just for a moment. They won't.
Josiah has his hands over his ears and he is darting around, telling me "let's go" while Caleb is running to the store front looking for candy. There is none. Now, there are shiny new apples all bagged up and ready to go but I can't get an answer out of either of them on the apple decision.
I'm grappling with Josiah because he wants to get back in the car. Caleb won't come over where we are and Josiah has now plopped himself down on the ground, yelling something I don't understand.
Somehow I get the pumpkins we picked out over to the vegetable stand but it's inside to pay. Josiah is still yelling "the car" over and over so I decide to let the whole thing go. I tell Caleb to come over to us - We are going home.
Of course, Caleb is just as focused on "Where is my halloween stuff and how come we can't get the pumpkins??" I have both boys now over by the bales of hay and dried corn stalks but we are no where near the storefront.
What to do... as much as I want to be an independent mom to these boys of mine, outings like this calls for more than one person.
The Rescue
An angel in disguise... she steps up to Josiah and says sweetly, "Do you want me to stand with you while Mom pays for the pumpkins? That way you don't have to go in the store and Mom can hurry up so you can get in the car..."
Ahhhhhhhhhh - I am rescued from the trauma of going home empty handed and frustrated with the whole situation. Josiah is rescued from his cranky mom that just wanted him to have fun at the pumpkin patch. Caleb is rescued from being pumpkinless.
She was a godsend! Without her, I might still be there trying to get one or the other to cooperate.
Dramatic? You Betcha! Traumatic? Not to the boys and I'm reslient :-)
Fun? Yep! Actually once we were piled into the car with our treasures in the trunk of the car - I was happy. A beautiful fall day in Maine with my boys.
Tam
Since I've moved back home to the place where I grew up - I've tried very hard to recapture that part of me that was the mother I was the first time around.
The girls had loved our tradition of visiting local pumpkin patch where hundreds of new pumpkins in all shapes and sizes spread all around the farm stand with cool scare crows and antique tractors tucked here and there. The farm store filled with cool halloween displays. I knew it wouldn't be the same kind of trip with the boys but I didn't want to jinx it.
Instead, I pretended it was my first time there at the farm...
The sun had come out, the wind blew wildly but warming us. The trees are already a mixture of red, orange and yellow with leaves swirling all around us. I love the smooth feel of the bright orange pumpkins and try to get the boys to touch them just for a moment. They won't.
Josiah has his hands over his ears and he is darting around, telling me "let's go" while Caleb is running to the store front looking for candy. There is none. Now, there are shiny new apples all bagged up and ready to go but I can't get an answer out of either of them on the apple decision.
I'm grappling with Josiah because he wants to get back in the car. Caleb won't come over where we are and Josiah has now plopped himself down on the ground, yelling something I don't understand.
Somehow I get the pumpkins we picked out over to the vegetable stand but it's inside to pay. Josiah is still yelling "the car" over and over so I decide to let the whole thing go. I tell Caleb to come over to us - We are going home.
Of course, Caleb is just as focused on "Where is my halloween stuff and how come we can't get the pumpkins??" I have both boys now over by the bales of hay and dried corn stalks but we are no where near the storefront.
What to do... as much as I want to be an independent mom to these boys of mine, outings like this calls for more than one person.
The Rescue
An angel in disguise... she steps up to Josiah and says sweetly, "Do you want me to stand with you while Mom pays for the pumpkins? That way you don't have to go in the store and Mom can hurry up so you can get in the car..."
Ahhhhhhhhhh - I am rescued from the trauma of going home empty handed and frustrated with the whole situation. Josiah is rescued from his cranky mom that just wanted him to have fun at the pumpkin patch. Caleb is rescued from being pumpkinless.
She was a godsend! Without her, I might still be there trying to get one or the other to cooperate.
Dramatic? You Betcha! Traumatic? Not to the boys and I'm reslient :-)
Fun? Yep! Actually once we were piled into the car with our treasures in the trunk of the car - I was happy. A beautiful fall day in Maine with my boys.
Tam
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