3:21 & CHD Days!

Today is Down Syndrome Awareness Day, March 21, 3:21, three copies of the 21st chromosome.  Also, we missed Congenital Heart Defect (CHD) Day in February because Katie wasn't feeling well.

Rocking 3:21 and CHD Survivor!

Katie update

Katie is doing amazingly well and rocking her extra chromosome. She is now 16 months old. Below is her current status with all the early intervention teachers and doctors.

• Speech Therapy: Katie has several words and signs (see Katie-isms post for the current list). We are starting speech therapy this month (once a month) to track her language development and to strengthen her tongue. Katie is not delayed in her language/speech development at this time, but she developed a little bit of tongue protrusion from all the colds and sicknesses this winter.  Her tongue positioning has already improved now that she is healthy (and her teeth are all in), but it is a good idea to keep her mouth muscles working for the long term benefits.
• Physical Therapy: She progressing quickly with the help of her physical therapist (once a week). All of this list is new in the last seven months. When we moved (age 9 months) she still needed assistance to sit.
• She is sitting up without any trouble (some children with DS are unable to sit without assistance at her age, 16 months and more)
• She can sit in shopping carts and swings and adjust to the movements with ease 
• She can crawl correctly with alternating arms and legs with her belly off the ground
• She pulls to stand on many surfaces
• She can crawl up and down several stairs at a time
• She can walk the full length of the couch holding on
• We just bought 'big girl shoes'. They have hard soles, ankle support, and her PT teacher made her some arch supports.  The very next day she started walking across the room holding my hands.
• Special Skills: Her skills teacher visits twice a month.  She is a general early childhood development specialist.  She mostly focuses on helping Katie develop her vocabulary but she also works on hand-eye coordination and fine motor skills.  
• Feeding: Katie eats like a champ.  She eats table food and drinks from an open cup while I hold it for her (no sippy cups for her!) Our next round of goals is to add chewy foods and straw drinking.  I also want to start practicing with her holding the cup and her managing her own spoon.
• Growth: Katie is 16 months old and only 18lbs! Children with DS have a very different growth trajectory than typical children. There is a totally different set of growth charts used to track her height, weight, and head circumference. If charted on typical charts she would fall of the charts too small.  However, when charted on the DS charts, Katie is 30% for both height and weight.  She is on the smaller side but a totally acceptable size.
• Cardiology (Heart doctor): Katie is being checked every six months while the doctor gets to know her.  After a few visits he plans to switch her to yearly visits.  Her new cardiologist has the same view as her cardiologist in NY (whew!) that the surgery was a great success, that she will probably never need another heart surgery, but that we need to watch for the rest of her life just to make sure.
• ENT (Ear, Nose, Throat doctor): Katie had at least three ear infections this winter. Her ear canals are so small that her pediatrician is unable to see her ear drums and even the ENT has to use a special tool. Due to the chronic infections, she developed mild/moderate hearing loss.  To test her hearing I would hold her in a sound booth.  They would play sounds in different areas of the room and watch for her to react.  When she had hearing loss I would hear the sounds, hear them significantly increase the volume, and then she would react. She had ear tube surgery in January to drain the fluid, to prevent new infections, and to improve her hearing (typical children have this surgery commonly too).  We retested her hearing in February and now she responds to the sounds at the same time I hear them!
• Ophthalmology (Eye doctor): Katie is near-sighted.  At her last visit in September, she was borderline and we decided to hold off on glasses (mainly to get her a little older and perhaps more willing to wear glasses).  We are pretty sure she will need them when she has her next visit this April.
• Sicknesses: Katie had a rough winter.  She caught many colds, she took a long time to recover, and they would almost always progress to ear or sinus infections.  I think she is now on her sixth round of antibiotics since Nov. The ear tubes have helped greatly by preventing ear infections but the sinus infections continue. Our pediatrician is preparing me that they might suggest adenoid and/or tonsil removal surgery next year if she has this much trouble again next winter. Katie has very tiny sinuses and nasal and ear drainage tubes which are much more prone to infection.
• Hematology (blood doctor): Every year Katie has to get her blood drawn to check her thyroid levels and her blood counts since people with Down syndrome are more susceptible to low thyroid levels, leukemia and other blood disorders. At her 12 month check her lymphocyte counts were low, but it could be explained by recently having a cold.  At 15 months we wanted to recheck to make sure the counts improved but we couldn't get her healthy enough to get a good reading so we did the recheck with her still sick.  The recheck showed her lymphocytes were still low and then her neutrophils where a little high.  So, we were referred to a hematologist. Long story short, she is fine (although, admittedly, I had convinced myself something was really wrong...lesson learned...don't freak out at a simple referral!).  Apparently it is well established that people with DS have blood counts outside the typical ranges.  Nothing in her blood counts suggests leukemia or any other disorders, so they are confident that it is 'just her'.  However, these 'a little off normal' counts could explain why she is catching so many colds and is taking longer to recover than the rest of the family.
• Pulmonology (lung doctor): We have been visiting a pulmonologist once a month all winter so Katie could receive her Synagis injections. Synagis is an anti-viral therapy that protects against the RSV virus. It is a very common virus which is dangerous for babies but particularly dangerous for babies with heart or lung disorders. The RSV season is now over, so we shouldn't have to return to the pulmonologist!  One specialist down!  Next year, Katie will be old enough that catching RSV isn't as dangerous, so she will no longer qualify to receive the injections.
• DS Clinic: This week we visited the Down Syndrome Clinic in Dallas.  The DS Clinic is a group that contains nurses, doctors, genetic counselors, social workers, and volunteers from the Down Syndrome Guild of Dallas that specialize in the care, treatment, development, and support of children with DS. We spoke with a nurse who asked all about Katie's medical history. She was very pleased with the medical care Katie has received from her pediatrician and that Katie has been seen by all the appropriate specialists.  Then we spoke to a genetic counselor, we didn't really learn anything new but I am sure it would have been more helpful if we didn't understand genetics already.  Then we spoke to the social worker and DS Guild volunteer who told us about the ABLE Act and some waiting lists that we needed to add Katie's name too.  Apparently there are a few governmental assistance programs that can help Katie with supervision and housing when she gets older, however, the wait is 10-18 years!  So, I called this morning and added Katie to both lists.  It was very nice to talk to people that are experts in Katie's condition. It was a relief that they were very pleased with her development and medical care and to hear them confirm that she really is doing great!
• The social worker at the DS Clinic gave us some interesting advice. I had heard it before, but it really hit home the way she explained it. She wanted to really encourage us to stay on top of the discipline for Katie.  She needs to be disciplined and expected to follow all the same rules as Ellee. She said that it is easy to fall into the trap of letting behavioral issues slide with children with DS because they are just sooo cute, or you assume they don't understand, or you feel bad for them.  She explained the number one way Katie will be able to have a large variety of opportunities in the future is if we ensure she behaves appropriately.  For example: if we can tell the band director (coach, whatever) when she is in high school that Katie will not disrupt, will listen, and will not wander off, then there is no reason she cannot participate.  If we are lacks with her discipline, and she is disruptive, her opportunities will be greatly reduced.  She also said that children with DS are typically very visual learners and also very receptive of emotional situations.  She encouraged us to develop very visual ques for no and yes, basically a mean face and a happy face to go along with our interactions.  Many parents fall into the trap of talking to much.  If we provide facial visual ques of yes/no and we do it constantly, she will be able to tell with our look if it is okay or wrong without needing a lengthy explanation. 

Katie-isms

First words

• "Dada": Her first word, of course. She LOVES her daddy.
• "All done": This is her very consistent second word. She says it at every meal. It sounds like "All don don". Occasionally she says it when she is tired of playing or annoyed with her Physical Therapist. She even said it after waiting too long in the waiting room before her ear tube surgery.
• "Ellee": She has a consistent sound for Ellee, it sounds more like "EEHda"
• "Mama": She can say it but has only done it twice when she was sick.  She is still holding out on me!
• "Diaper": I really believe she said diaper today, right when I handed it to her to hold. Grammie heard it too.  I will need a few more instances to be convinced!

We have been teaching Katie sign language to prevent her from becoming frustrated while she increases her spoken vocabulary.  Her current list of signs are:

• Mama
• Dada
• Katie/mine
• Grammie
• More
• Food
• Milk
• All done
• Up
• Hi/Bye
• Kiss

She also does several interactive games

• Big girl: Hands up in the air
• Blowing kisses
• Clapping/happy
• Row your boat
• Itsy bitsy spider
• Peek-a-boo
• Dancing: She dances EVERY time she hears music.  She basically rocks side to side with a huge grin.

Ellee-isms

I love these.  They always make me laugh:

• "Diddy": We call Katie, Katie-did quite often. Then it morphed into Katie-diddy.  Now Ellee uses diddy as a word for baby. "Come here little diddy" or "Look at the wee little diddy!"
• "Holy Moly Cows": She says this all the time. The first was "Holy moly cows that is a lot of birds!"
• "Holy Moly Christmas Cows": When Christmas lights are particularly beautiful.
• "Going ice creaming": she only said this once but it was cute.
• "My butt needs to be pant-ed": I slid her into the car seat and her pants slid down.  She struggled to tell me what was wrong and finally settled on this. Makes perfect sense to me.
• "I'm drinking water like a camel": Random. I have no idea where that came from.
• "Hug-tuation" (pronounced hug-chew-A-shun!): Ellee likes to play a song called Punctuation.  The chorus is "Punc, Punc, Punc, Punctuation".  Ellee thought it was "Hug Hug Hug Hug-tuation."

Restart

It has been about seven months since my last post and we have been busy! We have moved into our new house in Texas, unpacked, started preschool (Ellee) began two new jobs (Mike & Robin), picked a church, started bible study (Robin, Ellee & Katie), transferred to new doctors and early intervention (Katie), and had ear tube surgery (Katie).  A lot has happened and it all went smoothly. We are very happy in our new Texas Adventure and are very happy to be close to family again after 13 years away. Instead of trying to catch up I am just going to start up again in the present. I figure if I try to find time to do justice writing about the past I will never get going again.