Saturday, September 25, 2010

Genetics Testing

The genetics counseling doctor called me the other day and said the results had arrived from the lab regarding Stickler Syndrome. Kyleigh had met the criteria of the syndrome based on the checklist, or at least enough of the criteria to warrant testing. Seems that the test cannot be 100% accurate. Kyleigh's blood work came back inconclusive meaning as far as we can tell she most likely does not have Stickler's Syndrome. The doctor explained that she may have Stickler-like Syndrome. What does this mean? It means, we do more bloodwork in about 6 months. The doctor doesn't want to just accept that we have yet to find a link connecting Kyleigh's birth defects and development to a common cause. We agree that it would be helpful to have a name to call it so that every doctor, teacher and care provider can best work with Kyleigh if we have an understanding of what the future holds for her development and medical health. For now, we go on with everyday life and meet with the doctor at some point next summer to draw blood for a microarray screening which can lead to a broader spectrum of genetic chromosomal testing.

On another note, please keep my mother in your prayers as she has been experiencing a decline in health recently. Her doctors finally conducted an echocardiogram that showed her right ventricle is not pumping properly. This could be the culprit of her severe fatigue and chest pains. She is waiting to get connected with a cardiologist and go meet with them to determine the course of action. Until then we pray for healing and strength for her as it has been very difficult for her to do even the most ordinary tasks lately.

Blessings to All.

Wednesday, September 15, 2010

We have come a long way...

Today we visited with Kyleigh's team of doctors' at Duke Children's Hospital. The team meeting is very much a carousel of doctors and specialists meeting and asking questions. It began at 8:45. This was our 4th visit since her birth and since that first visit we have come a long way! They all were awed and amazed at her growth and development over the past 20 months. We met with the Audiology Department first and they conducted hearing screenings. In the past Kyleigh has done very well for these screenings. Her last ABR (under anesthesia) showed that both ears were working properly. Today she was asked to respond to noises in the environment by looking towards the noises and she would be rewarded by animals and lights. It was cute to watch her respond. After a series of times she signed "finished" and looked at me like that is all I want to do with her silly grin on her face. It was so cute. Then they put headphones on her and wanted her to respond in the same fashion but she was frozen in time literally. They said we will have to wait and try again when she comes back next time on the headphones. During one of the other screenings they placed foam pieces in her ear and told her I am going to take a picture and I will be all done by the time I count to 3. He said "1" and to my surprise Kyleigh said "doo". WOWSERS!!! This was the first I had heard her respond to counting. Later we were counting to 5 and I would say 1, she said "doo", 3, "or", 5, "ix", and so on until I definitely think she counted to 10. My mom was a witness and we were completely amazed.

Then off to wait in the waiting room for the next appointment. Next we met with the Speech Therapy team where they discussed her eating, drinking and word development. She said "poon" for spoon and "icken" for chicken, along with all of her most commonly used words at home "up", "dowwwwn", "bye-bye", and others. By the end of the session she had won them over to her side and gotten a sticker for being so cute. She even ate her turkey for them so they could see that she was no longer endangering herself eating solids. Great visit so far. Back to the waiting room we go..

10:30 we took a break and went to the bagel shop downstairs (new addition to the Children's Hospital) and it was very good. Kyleigh enjoyed her second snack of the day as well as our water.

11:00 we are ready to be seen by the ENT doctor except he has been called into surgery and his back-up plan doctor is in the OR too so we see the Nurse Practioner on her team instead. She said Kyleigh's ears looked good despite some "webbing" or wax build up which could explain her digging in the ears. She thought she was experiencing some Allergic Rhinitis and needed a nasal spray to open her nasal passages more freely.

Then back to the waiting room. By this point happy go lucky Kyleigh was tired and cranky and hard to convince to stay all smiles.

11:45 we get called back to meet the Orthodontic-Cranial Facial Surgeon (Dr. Santiago) for the first time. He was really nice. We spoke of her interesting way she has gotten her teeth and that they are coming in very slowly. She currently has 6 teeth at 21 months of age - 2 bottom molars, 2 top molars, one bottom tooth in front, and top right front tooth. He said we should worry too much and they will continue to follow her development of bone and physical structure as she ages. If by age 5 she doesn't have all 20 teeth then we will do x-rays and determine if we need to have a Dental Savings Plan (much like a college plan) for her dental needs. Geesh...I hope not.

Following our meeting with Dr. Santiago we met with Dr. Georgiade her Cleft Palate Plastic Surgeon. He was very pleased with her talking, eating and overall appearance of palate. He then agreed that we should be focusing on chopped and small bites of food so he changed her diet order for school and sent us on our way.

Overall, it was a great visit. Everyone was so positive. Kyleigh was so good. She kept my mom and I laughing most of the time. Duke has become a place that feels almost like home. It is a place where they all know her name and we see others going through the same thing. I felt bad for the mom that was struggling with her infant and feeding using the Haberman bottles. I remember all too well the pain of those days. I smiled at the mom that was thrilled her son was eating baby food and not having it come through his nose. Familiarity...everyone has a story...similar walks...similar pain...but very different all the same. That is what I gained from today's visit.

Each year we will return for this team visit and in between we will have separate check ups with specialists. For now, we bask in the joy of good news and no looming surgeries around the corner!

Tuesday, September 7, 2010

Because God Gave Us You

Tonight I read Kaitlyn a bedtime story that brought me to tears. It is called, "Because God Gave Us You" and it was given to us by friends when she was born. I have read it a couple of times since then and we even have a copy of the book, "Because God Gave Us Too" but I have never really listened carefully to the words until tonight. As I read to Kaitlyn all snuggled up beside me in the bed all of today's worries, woes and frustrations melted away. She was so intent on hearing my every syllable and I was careful to use inflection of my voice to help set the tone. As I read the words, "Mama do you wish you ever had a different baby" and then Mama Bear replies, "No, not ever, never ever".
"Why?" asked Baby Bear. Mama replies simply, "Because God Gave Us You".

This is so true. No matter what, God gave us two beautiful girls - Kaitlyn and Kyleigh. I am so blessed! I love them and I love the special moments we make each and every day that help erase the hard moments away.
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