Ring Chromosome 8 Mosiac - Something to Talk About

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

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