Saturday, February 16, 2013

Not just About Us

I have this amazing niece, her name is Kimmie and she has mosaic down syndrome. Her and her incrediMom Jody are raising money for International Mosaic Down Syndrome Awareness.
Hop on over and check it out and if the spirit moves you go ahead and help out.
Jody wrote a little for us all about Kimmie and her total awesomeness.

Kimmie is quickly approaching her 14th birthday. She is smart, sassy, funny and she gives the BEST hugs!!  She is in the 8th grade and continues to bring home A’s and B’s. By looking at her you would never imagine the daily struggles she faces. You see, Kimmie has Mosaic Down Syndrome (MDS).

This is a rare form Down Syndrome (DS) that makes up less than 2% of the DS population. We received this diagnosis, just 3 days after Kimmie was born, by the genetic specialist at Boston Children’s Hospital.
Kimmie’s amazing road has been long but our Blessings are countless!! Kimmie was born full term, an adorable 7lbs 3oz 20inches long on March 29th at Falmouth Hospital. At birth she had gurgles and the testing began. She was transported to BCH at 6hrs old and by 12hrs after birth she was undergoing her first surgery. The morning testing had resulted in a diagnosis of Tracheo-esophageal Fistula with Esophageal Atresia. In English, her esophagus had never formed all the way to her stomach and she had a nonsense tube connecting her stomach and her lungs!! At one week she underwent another surgery to remove a second fistula connecting her esophagus and her trachea.  A feeding tube was put in during this surgery as she had never eaten by mouth with fear of aspiration. She needed to heal and then learn to suck and swallow. Here is where her amazing strength went into over drive!
She spent 2wks in the NICU and 3wks in the surgical recovery before being released from BCH.  They told us she would probably have a feeding tube for up to 18mths. She had it 11wks! They told me she would never learn to nurse as I faithfully pumped every feeding for her. By 4mths she was exclusively breastfeeding! Every doubt they have given us, she has proved them wrong!

Yes, she had delays. She walked a little later than my other two children (14mths).  It took her longer to potty train and get her verbal skills together. She still, at 13, sees a speech therapist twice a week. She began stuttering in the 3rd grade. She has sensory issues: no hoods, turtlenecks, ties around the neck. She likes the idea of jewelry but after a few minutes fusses it’s choking her or itching. She is STUBBORN! That is one stereotype of children with DS that is completely undeniable! She has “quirks” things need to be done a certain way, routine is a must! I often call her “my little rain man”. If she slept late and ate breakfast at 10:30 lunch is still at noon and as she eats breakfast “what’s for lunch” is coming out of her mouth.

Kimmie was also diagnosed with Hypothyroidism at age 9. This was not a complete surprise her daddy also has it. It is also very common in those with DS. We have also switched her to a Gluten Free diet as she had all symptoms of Celiac Disease, also common with not only Down Syndrome but with Hypothyroidism. We did have a biopsy done but it was negative, though I was told that she could have a long term reaction as opposed to an immediate reaction. Since the GF change I have seen some great improvements.

I would have to say through all of this her social skills are her biggest struggle. Her maturity level is definitely a couple years behind her peers. She “has no filter”, if she thinks it, she says it, though we don’t have an issue with improper language. She does have an IEP at school and has minor adjustments made as needed within the classroom. She is in a mainstream class room with her peers and has an aide with assignments as needed. She is planning to try out for the High School Dance team next year and she is going to begin guitar lessons for her birthday! She amazes me everyday!

God sent me this Blessing to love and cherish with no warning of the road to come. He felt I could handle it and Blessed me with this precious girl. Would I have changed anything knowing the road we struggled down and continue to travel? Absolutely not!!  She has changed and Blessed my family in so many ways and for that I am Grateful! I wouldn’t have my life any other way.