Summer of a Lifetime

When school ended, we wasted no time in our memory making.  Josiah was slated to attend summer school 3 days per week.  I was scheduled to teach drama for 2 weeks.  The big boys were signed up for 2 weeks of summer camp at the YMCA.  All would come to pass and a whole lot more.

In the 48 hours following the end of school, Josiah had 5 therapy sessions (2 physical therapy, 2 speech therapy, and 1 occupational therapy).  We visited a playground, a playground/splash pad, and attended a baseball game.  Oh yes, we hit the ground running!!!!  It was summer, at last!

July rolled in quickly.  Josiah continued his therapies 2 days per week.  We had play dates and movie nights.  We celebrated the 4th of July by meeting Josiah's new best friend (the little girl with Down syndrome, who attends school with him) and her family.  We spent a glorious day at a local theme park.  In the evening, we went to a friend's house.  We enjoyed great food, friendship, and fireworks over a private pond.  The boys all played with friends.  The adults enjoyed the fun that friendship affords.

We went to a zoo.  The boys had Saturday swim lessons.  Josiah started his summer preschool program.  Mama started teaching her 2-week drama camp.  The big boys started their 2-week YMCA summer camp.  It was busy but everyone was happy, and at peace with life.

We threw in drop-in playgroups & farmer's markets.  The oldest resumed karate (though it was short-lived).  Carl started iron infusions and found more energy.  We attended a benefit dinner for the 5 year old's preschool teacher, who had since been diagnosed with Cancer.  Carl & I celebrated our 9-year anniversary.  We enjoyed a few date nights.  Josiah had an audiology appointment & his hearing came into question (again).  It was believed hearing aides may be beneficial so we started considering the option.

August was quickly upon us.  I was still teaching.  The big boys were still attending summer camp.  Josiah was attending summer preschool 3 mornings per week & therapy 2 afternoons per week.  Yet we continued pushing our goal - making memories with our boys.

We went to a water park with a great local group - all families have a child with Down syndrome.  We attended family night at the YMCA.  The boys attended summer Birthday parties & back to school parties.  They loved summer camp so much that they were signed up for an extra 2 weeks.  It was proving to be the summer of a lifetime!!!

We revisited the local theme park, playgrounds, splash pads, and filled in many days with love and laughter.  As the last week of August approached, our busy schedule started to slow.  My 2-week drama camp ended.  Josiah completed his summer program.  4 weeks of summer camp came to an end.

Josiah had a sedated CT scan to rule out possible physical causes of his hearing issues.  There were none.  The CT scan did note an unusual density to his cerebellum - something that will be further examined with an MRI.  Meanwhile, we actively pursued the hearing aide option.

The former preschool teacher lost her battle with Cancer.  We said goodbye to her, crammed in a field trip, celebrated my Dad's Birthday, and quickly welcomed September.  A new school year was about to begin.  Josiah was moved to a toddler bed (from his crib) and has slept like a big boy every night, since! 

September 1st: The first day of school!  Summer was over.  We were disappointed but looked forward to what a new school year would bring.....

Friday's Facts 051812: DS and Leukemia

Individuals with Down syndrome have a 15 to 20 times greater risk of developing leukemia.

The majority of cases are categorized as acute megakaryoblastic leukemia (AMkL), which tends to occur in the first three years of life; thankfully, there is a high cure rate.

A transient form of leukemia is also seen in newborns with Down syndrome, disappearing spontaneously during the first two to three months of life.

One in every 95 children with Down syndrome develops leukemia, compared with one in every 2000 children without Down syndrome.

It appears that the extra genetic material found on chromosome 21 also may cause stem cells to proliferate before they have developed to maturity, creating “blast cells,” and thus, leukemia.

Children with Down syndrome are usually diagnosed with one of the two major forms of leukemia -- ALL (acute lymphoblastic leukemia) and AML (acute myeloid leukemia) -- in about the same proportion as all other children.

Compared to most children with AML, children who also have Down syndrome respond to treatment better, and have survival rates as high as 85%, compared with 50-55% for the others.

     For children with Down syndrome, leukemia treatment is more successful than for other kids. It's likely due to a genetic mutation found only in Down syndrome children, new research shows. However, the same mutation also increases the kids' leukemia risk.

     Children's cancer researchers have consistently reported the pattern. A specific type of acute myeloid leukemia (AML) called acute megakaryocytic leukemia (AMkL) is the most common type of AML in young children with Down syndrome.

     Recent studies have identified a genetic mutation in virtually all Down syndrome children who have AMkL. Non-Down syndrome kids with AML don't have this mutation. The mutation, known as the 40-kDa GATA1 protein, may be responsible for the survival difference.

     The GATA1 mutation seems to contribute to the Down syndrome kids' greater sensitivity to a specific cancer fighting drug, called cytosine arabinoside, which is used in treating AMkL.

     Cells with the normal GATA1 protein were 8 to 17 times less sensitive to the chemotherapy drug.  They were also 15 to 25 times less sensitive to gemcitabine, another leukemia drug.

     Tests of cells taken from 16 newly diagnosed Down syndrome children (including 12 AMkL patients) and 56 non-Down syndrome children with AML showed that 14 of 16 Down syndrome kids had the GATA1 mutation.

     This GATA1 mutation is a double-edged sword. It may increase a child's risk for leukemia, but it may also contribute to the high survival and low relapse rates of this unique group of Down syndrome patients.

SOURCES:

http://www.annas-angels.org/geninfo.html

http://www.webmd.com/parenting/news/20050201/down-syndrome-mutation-helps-leukemia-survival