GI Appt Update

Kyleigh went to see Dr. Ulshen for the follow up appointment from 3 months back. To say I was nervous would have been an understatement. If her reflux had not improved and if her weight gain had not shown improvements then she was going to be a candidate for the surgery to fix the band that allows the reflux to flow. I don't know how to spell it sorry "nisen". Anyways, when we were there 3 months ago she weighed 18 lbs 4 oz on their scales. Yesterday she was 20 lbs 1 oz. So despite her stubborn ways of eating she is still gaining and she even looks "fleshy and healthy". So we don't have to return to GI for 6 months unless otherwise needed. If her reflux comes back with a vengeance again we can look into have them go in with a scope to check the severity. Right now I chose to keep her medicated, keep using thick-it in her juice and water, and go with the good news. So glad that appointment proved uneventful. Now, we can put all the surgeries behind us and continue moving forward watching her grow and develop new skills.

5 Years Old

Pretty Purple Nails
Five years ago at 2:36 am on July 26th I was blessed with a beautiful small bundle of pink. Kaitlyn Ann was born with a head full of hair and a lot of spunk. She is so smart and changes in her occur on a daily basis it seems. Today she enjoyed a cookout with the family and in preparation for her big day we painted her toes and fingernails using polish that was in a present from her baby sister Kyleigh. She loved the purple polish and we are hoping it continues to deter her from biting her nails. Tomorrow will begin with her opening a special present from mommy and daddy, a Leapster Explorer, which is a handheld game system that can also hold e-books and videos as well as play games for learning. The day will end with special time spent with her little friends at the pool. She is super excited and we are too. It is fun to watch your child be so anxious in anticipation for fun and happy times with friends and family. She is also looking forward to our trip to Carolina Beach this weekend except her sense of elapsed time is off a bit because she thinks we leave after her pool party and we really don't leave until Friday- she'll figure it out soon enough.

So, happy Birthday to my BIG GIRL! Mommy and Daddy and Kyleigh love you SOOO much!!!

Kyleigh's First Steps

This morning I heard a gleeful squeal and turned to see Kyleigh standing up on her on and practically running across the floor towards the dining room table and play kitchen. She was laughing and I was so thrilled I shouted, "you are walking..yeah!!" and of course she then plopped on her butt and turned around as if to say, "no I wasn't". That's my girl! Anyways, she has mostly still scooted around today but I did catch her in the walking act a little on my phone and thought I'd share with everyone. It won't be long and she will figure out this walking business is so much better than scooting. I'm such a proud mommy right now. What it reminds me is that Kyleigh will do things in her own time when she is good and ready. Now, when will she be ready to eat real food I wonder?

Watch Kyleigh Move...

Kyleigh is so close to walking. Today she was a cruising little lady. She would go round and round in circles at her sister's princess table and the chair at the pool. Sometimes she was moving pretty quickly and didn't even realize that she wasn't holding on to the table or chair everytime. It is just a matter of time and practice before she is truly mobile. Woohoo!

Eye Update for Kyleigh

We had a very busy day today beginning with Kaitlyn at the allergy doctor where she received a good report and doesn't need to worry with allergy meds again until the fall. Then off to swim lessons for Kaitlyn. Then off to Duke Eye center for Kyleigh. We arrived at Duke at 2:45 only to find out that Dr. Freedman was running way behind schedule and her 1:30 patients had not been called back yet. Geesh.. it was going to be a long wait. Needless to say, I hate waiting with two small children in tote but my mom was there to help and given we received the best of news today that made it some better.

Kyleigh's pressure is equal in both eyes and steady between 9-12. These are GREAT numbers!!! Her optic nerves and retina looked beautiful and her corneas are crystal clear!! We were all so thrilled. Dr. Freedman was tickled and even Kyleigh threw her hands up in the air to acknowledge her approval. Both girls were excellent today at their appointments. We finished at 6 and headed home to put an end to our long day. We return for Kyleigh to be rechecked in 6-8 weeks. Praise Him for a good report and a good end to a very busy day!

Genetic Testing to Come

After speaking with Dr. Rietnauer we are going forward with genetic testing on Kyleigh. The appointment will be early in August and blood will be drawn and sent to a lab at Tulane University. The testing is very specific to three genetic strands and they will focus on two of the three strands that Kyleigh exhibits characteristics for the syndrome. It is called "Stickler Syndrome". Here is an explanation of Stickler's Syndrome from the "SIP-Stickler Involved People" brochure.

Stickler Syndrome is a genetic disorder affecting collagen throughout the body. It is an autosomal dominant genetic condition. It occurs equally in male and females and the traits will be exhibited in the child if the gene is passed on by the affected dominant parent. It is a progressive disorder, so the symptoms are more likely to worsen and become more severe with age. It is characterized by problems with vision, joints, and hearing. It is a disorder not a disease, so people can live a long and happy life. It is estimated to be in 1 in 7500 people but often goes undiagnosed or misdiagnosed. When a mother or father has the dominant gene there is a 50% chance that it will pass to the child with each pregnancy. A parent can be the carrier of the gene without having symptoms themselves. This syndrome does not affect life expectancy or mental capacity but it does affect the health of eyes, ears and joints in the person with the gene mutation.

I have done a lot of reading on the Mayo Clinic website and other resources provided by our doctors. It seems that Kyleigh exhibits so many of the characteristics for this disorder. There is a diagnostic criteria chart (12 points) where a score of 5 or more indicates Stickler Syndrome. It can be found at www.sticklers.org and our doctor used this chart to determine that further blood testing was necessary.

My greatest fear is that she has the harshest form of this syndrome and could very well face blindness as it is a progressive disorder and her vision is already weak. However, we will continue to put her in the hands of God and trust that he has her life planned out.

On a side note, we go to the eye doctor tomorrow at Duke for a follow up to her surgery in April. I hope to hear that her pressure is still stable and that her eye is healthy. Kaitlyn will also see the allergy doctor tomorrow for her annual check up.