Emma Kissock – Emma’s Syndrome

Emma is starting to get better.  She is getting nebs every 3 hours.  Will not be able to go home until she has at least 4 hours between nebs.  Early this morning they lost the IV site, but the nurse was able to get another one started on the first try.  Even the on-call doctor was surprised.  Not a lot of news yet.  I will update this site when I know more.
Love to all, Grandma Carol

It appears that Emma has a double ear infection as well now.  She is still having a hard time to breath.  They are giving her neb treatments every 2 hours.  She had been spiking temps this afternoon, but that seems to be better now that they have her on tylenol and antibiotic.  Don’t know much more now. 
Have a good weekend.  Love, Grandma Carol

Emma’a cold has not been getting better and today Emma was having a hard time breathing and the nebs were not working.  So Robin took Emma to the emergency room and they decided to keep her for observation and so that she can get nebs every 2 hours.  Hope everyone had a Happy Thanksgiving!
Love, Grandma Carol

Robin, Emma and I had an appointment last Thursday with the Geneticist.  The geneticist had an intern and a genetic counselor with her.  It was about a 2 hour appointment.  They went over Emma’s history again, updated information and developments since Emma’s last visit, did an exam and watched Emma and then answered all of our questions.  The blood test for Cornelia de Lange syndrome came back negative.  So, they don’t have any idea as to which genetic syndrome Emma has.  We just have to deal with what ever comes next – one day at a time.  It is definitely not Rhetts Syndrome as Emma is progressing instead of regressing.  Along with the genetic disorder comes a neurological dysfunction.  This means that Emma’s brain is not sending all the right signals and is not growing like it should.  Which can also be classified as a form of mental retardation.  All they could tell us was that Robin and John are doing a superb job with Emma and making sure that she has all the medical attention and physical therapy that she can get.  We have to keep trying to get Emma to leave her helmet on to see if we can reshape her head in hopes that that might help the brain grow easier.  There are no guarantees and no definitive answers.  Questions included:  Can Emma reach adulthood? Yes, but will probably always need assistance.  At this time, the best case scenario would be that Emma could develop to a stage that in adulthood she could live in an adult group home.  Does she have autism?  No, but she does have autistic traits.  Will she walk?  This one does not have a definitive answer.  Possibly, but she may need some kind of a walking aid.  Why are her feet always cold?  Because she isn’t walking and using her feet to stimulate the circulation.  As far as Emma’s eating and drinking, that will all be determined by her neurological system.  Right now the brain is not telling the flap in Emma throat to close when she is eating or drinking – thus causing Emma to aspirate.  This can even be seen if Emma has been laying on her back and has swallowed saliva – causing her to have noisy lungs.  Neb treatments are helping, so they will be continued as an as needed basis.  Emma continues to be very active and continues to roll over (both from her stomach and her back).  Emma knows what she wants and will move to get it or not take it from you if she doesn’t want it.  Emma will grab anything that is in her reach.  She also will chew on anything she gets her hands on.  She still is our smiley, happy baby.  She loves to give mommy and daddy lots of hugs (love) and kisses.  I must admit, sometimes the kisses are very wet kisses.  So for now, all we can do is treat the symptoms and keep her healthy.  We celebrate all the little accomplishments.  Emma is now over 20 pounds.  While at the clinic yesterday, we met some of Emma’s other doctors in the hallways.  They all thought Emma looked great and told Robin to keep up the good work.  So, as long as we don’t have a medical diagnosis, we are just calling it “Emma’s Syndrome”.

Last Friday Robin and John took Emma to physical therapy.  They are going to work on getting her to bring her knees to her chest instead of to the side.  They are going to be checking to see if the helmet will still help or if Emma’s brain has already fused in its current shape.  So more appointments to make and to check out. 

On Sunday evening John was playing with Emma and was checking Emma’s mouth because Michelle said that she thought she felt a tooth in Emma’s mouth.  John did find the tooth.  It is not the front ones, but one just to the side of the front ones.  So we are celebrating the arrival of Emma’s first tooth.

Love to all, Grandma Carol

Robin noticed some drainage in Emma’s ears and had that checked out yesterday.  Emma has the start of an ear infection.  Emma was given ear drops for it.  So hopefully that helps.  Emma is maintaining her 19+ pounds so we are still in the infant car seat as of yet.  Emma is getting longer and continues her rolling.  She seems to be very active and wants to keep moving.  She definitely lets you know what she wants and doesn’t want.  Of course, it is still a guessing game at times, but that is natural.  Emma still just babbles and there are no words as of yet.  No teeth as of yet either, but there is a lot of chewing and drooling.  Emma is back to her smiles, so that is good to see.  Not much new or different, just trying to keep up with the appointments and exercises and Emma’s other needs. 
Love to all, Grandma Carol

Emma has learned how to give Mommy and Daddy and Michelle hugs and kisses.  It was very heartwarming to watch as they would pick up Emma and she would put her head down on their shoulder for a few moments and then turn to them with her mouth open ready for a kiss.  Of course, she is just like any other kid – sometimes she won’t give you a kiss – but that doesn’t happen too often.  Most of the time she is ready to give you multiple kisses.  This weekend she rolled from her back to her stomach many times, but has trouble rolling onto her back.  She have let her on her stomach until she gets mad and then we help her roll back over.  She even put herself on her side while she was sleeping.  She was very active this weekend and didn’t want to stay still.  She seems to like to rock back and forth when you are holding her.  If you have her laying on your lap, she likes to hang her head and arms off your lap.  See likes to arch her back backwards.  That is how she manages to get where she wants on the floor.  She even used a toy to move the strap on the diaper bag closer to her so that she could reach it and then chew on it.  She has become quite vocal also.  They couldn’t even keep her quiet in church.  Of course, everyone knows Emma and was glad to hear her.  Some of these seem like small items, but to us it shows Emma using her muscles and progressing a little bit.  She is even starting to learn that when they put her in her crib, it is time for bed.  She may play for a little bit, but then goes off to sleep.  She hasn’t learned to sleep all night yet, but fusses just enough to get someone to give her the pacifier back and then goes back to sleep for a couple more hours.  She does have an infection around her feeding site, but that is also getting better.  So, Robin and John are continually on the go with Emma and her appointments thus keeping Robin from working full time. 
Thanks for continuing to pray and support Emma and the family.
Love to all, Grandma Carol