From The Beginning........

So, for those of you who don't know us, I will start with a very brief begginning adding all the fun we have had so far. Taylor was born June 25, 2003 by a scheduled cesarian at 9:52 a.m. She weighed in at a whopping 5lbs 3 oz 18 inches long. She was our caboose. She has a brother, Mason 12, sister, Miranda (8). At her 2 week check up she was diagnosed with a heart murmer and the utrasound showed a vsd (hole in her heart) and a aortic valve problem, out of 3, 2 work and one leaks?. The hole wasn't big enough to close but we have anual check ups and it is gradualy closing on its own and the other is doing fine too. We were told at 3 months that they believed that Taylor was deaf but we knew better. Finally after several hearing screenings and 2 abr test later we learned that her ear canals were so small that the slightest fluid in her ear canales was blocking her hearing. At 10 months we had our first set of tubes placed in Taylor's ears and 1 more abr test and she was hearing well. What a easy fix.
All along knowing that she had 2 major health problems going on and that 3 usually makes a syndrome (my mother is a O.B. R.N.) we knew something more was wrong not to mention that her fontenel (soft spot) went all the way down the back of her head and she just seemed soooo different from my other kids. So through out all this time passing I was sent to many different doctors and told many different things and nothing turned out to be what they said. I finally begged & demanded that her doctor do a chromozone test. In the process of waiting 6 weeks for test results I finally decided to get a 2nd from another pediatrician. He took one look at Taylor and ordered a cat scan. He said her forhead was too big and looked odd. Go figure we knew she looked different. I had prepared myself that things wern't normal but hearing it from his mouth confirming it, it was hard. I cried the whole way to the hospital. It felt good to cry and let it out. She was now 10 months old and it felt better having some sort of confirmation that something really was wrong and I wasn't just crazy. The cat scan showed abnormalties and an MRI was needed for further info. It showed microcephally and a bunch of other stuff I didn't understand. I now refer to it as a brain problem... more water to cushin the falls.... lol. (I have learned it is easier to laugh about it than cry) In the mean time... She started home therapy being perscribed for her failure to thrive. This has been a great thing in Taylor's life and am sooooo happy that I pushed for this to start soooo early.

We are sent to another doctor for a possible hip dsplacia and our second opinion on that came back negative. Good thing we didn't let the 1st quack do surgery. (Always get a 2nd) At age 1 we get our first pair of AFO's for her ankles. Her go go boots. (they were so weak they just flopped around no way could she stand on them).
When we got our 1st Chromozone test back & it was normal with no findings. We were then sent to a syndrome doc who said she thought she had cornelia delang syndrome. It seemed to fit alot of her facial features and other findings. Finally a name to this madness... not so, the new chromozone test came back not matching that either. Off to Salt Lake City to see the real Genetic docs. After 2 more chromozone test we finally got an answer, Taylor was now 16 months old. Finally a "real" name to this "thing" that was over taking our lives. One more doc without an answer and I was gonna freak out!!! 1P36 delition syndrome. What the heck is that?? I wanted something I had heard of and something I could find anything about. Her docs had only seen 1 other case of this and that child had multiple syndromes along with it so they had never just seen the one syndrome. The oldest child studied was 10 and that was in the 40 pages of paper work they sent me out the door with. What kind of out line was this for me to follow? I couldn't believe that there wasn't more they could tell me. I am a planner, how do I plan out what to do next with that. lol I am so greatful to have found the yahoo support group to be able to shre with others like Tay and find out more. I wish I would have had it from the beginning. It amazes me that these kids are all so much alike and yet still are so different. This syndrom varies so much. Taylor's test never showed how large of a delition she has and I can't afford to do another one but I think hers must be a slight one.
This little girl is the human pretzel. She bends every which way and sleeps in the oddest positions.
Taylor spent alot of time in the "stander" I hated this but it made her legs stronger. We are constantly doing therapy and thank heavens we have because it has progressed her so much. One thing with Taylor has been her immune system is so weak. For the first 2 years she recieved RSV shots during the winter and spring due to her heart problem. I was so careful with her and she never went out and people were litterally lisoled when they came in. I lost a niece to rsv a few years before and so I knew how serious it was. I was a FREAK about people touching/breathing/being in the same room with her. Our life was especially isolated during RSV season. She still got sick all the time. We have had pnemonia 4 times, rsv, roto virus, pink eye, you name it we got it. How, I don't know cause her doctor said I couldn't have been more careful. The child lived in a bubble. Now I know your thinking that its healthy to have a child build up their immune system and the only way is to have them out but not the case with this kid. It seemed that she lived in the hospital for a 3 year span. With every cold she got we ended up in the hospital for a week cause she never could fight it on her own. It's like when she got sick her body would just shut down. Iv's and isolation was the only way to nurse her back. Her doctor laughed that if there was a bug in the room it was going to find Taylor first. She was a magnet for them. We got pnemonia in July??? Explain that one??? Anyways, through them all she was the best patient ever. The nurses loved her and we knew them all by name. She knew what they would have to do to her and she just sat there why they did it. No fight and few tears. She just knew it had to be done. This kid has been through so much. All the sedated MRI's, eckos, x-rays, needles, iv's and continuous therapy, through it all she smiles and endures it. What a happy girl she is.
Because Taylor was so weak in her legs and ankles we have had several pairs of AFO's made for her feet. High ones and low ones. Taylor with this syndrome has been very delayed in her mobility. She has had to work really hard to strenghten her mussles so she could learn to sit up, stand, crawl and walk. Things that just come to other kids naturally.
Taylor started small and stayed small until about 4 and she grew tall, like her dad. She still has very small feet and hands. She stayed so small for so long. She never looked her age and I lied alot of the time to people when they asked just to not have to explain why she was so small. Her hair was getting quit long and she was still so tiny that I cut her hair really short so it looked more age appropriate. I loved having this small baby she was so lite and little. Every mom says "I wish my baby would stay a baby forever". Well after 2 1/2 years you start to think different when your living that cute saying.

We even have done horse therapy, which was Very very fun. I owe so much of her progress to her wonderful thereapist who have endured this journey with us. They have become family to us. They have also endured her very strong willed personality. We started with the physical, and occupational thereapy and as she got older added eating thereapy (due to the fact that she had so many troubles eating with textures, thickness etc. this was just for a short time.) speech thereapy and developmental thereapy. She has made amazing progress through the years and it is due to a lot of hard work from all involved.

Taylor does not speak. I tell everyone she's mute. She does however sign like crazy. Usually more than we can understand. She watches the "SINGING TIME" videos and has learned sooooo much. We as a family have learned along with Taylor all the basics as we have taught her. She has picked up so much more from the videos. If only we all could sit and watch them as much as she does and then also be able to retain the information in our memories. The kids do really good but my husband and I struggle. I just love it when we are out and someone says "wow what all is she signing and I say I don't know she knows more than me, but she's telling us something". She is so dang smart. She also knows all of her letters and numbers and can sign alot of them. She takes in everything and comprehends everything you say to her. She started signing around 1 1/2 and has just taken off with it.
I had a very hard time when Taylor turned 3. At 3 your toddler is now a big kid and my toddler was still so baby like. She was just starting to crawl and do normal toddler things. I was so excited for every bit of progress she made but still was hard to deal with the fact that maybe she would never catch up to her age. I am so thankful for her and all that she is able to do and how healthy she is don't get me wrong, I would never forget this angel we are able to raise & live with. It is just hard watching other kids around you that you know who are the same age & seeing all the things your child should be doing and wondering will mine ever do that?? It is a struggle emotionally. Having my other kids start to see her differences. Telling them that Taylor is just very "special". It is a challenge.... but it does get easier... as she learned to stand and walk with her walker and the more she signed and started to make noises.... oh the joy this brought. Taylor started walking when she was almost 4 1/2 right around Halloween. She was dressed like an angel that year and never was it more fitting. She wanted nothing to do with the goo at school.
So once she started walking let me just tell you how the world changed. This baby/toddler came to life over night. She started doing things that I couldn't believe. She has always been able to run every t.v. and dvd player in the house since she could pull her self up to them but now she started climbing up to the bigger ones. Notice how she climbed up to pick her out a new movie and she is signing help to get done. Oh yea she's full of it and she works it well with that cute little smile.
So after Taylor attending the special ed pre-school for 2 years (well when she went when she wasn't sick and mom wasn't mad at the teacher) lol I pushed for her to get the heck out of there. I felt that since she was 5, of age to go to the regular kindergaten center I was pushing for her to go there. I wanted her around mentoring peers and she was so achedically smart she needed to be stimulated more. So with great support from the kindergarten center's principal and teacher I picked (who taught my other 2 kids and is marvelous) we made the leap & did it. I have never regretted it. She is in the special ed class with a few other kids and is in her other class room part of the time too. She LOVES school. She signs school first thing in the morning. My other kids think she's crazy & I do too. lol Oh I can't forget to tell you how much she loves the bus. I would never let her ride it before to school so that is one of her favorite things in advancing to the big school. Taylor loves water so much. I know that this is a common thing the 1p kids have. We went to our local lake this summer and she could have stayed in there all day!! She has such a great big brother that loves playing & hanging with her.

One thing that we have done with Taylor is we have never catored to her. I know this sounds mean but she has had to struggle to learn how to do all the things she does. It has made her so much stronger. Yes I have always made her pick up after herself too. With this we have always made her apart of everything we do. We have so much fun as a family. This was Taylor this last fall catching her own fish. The funny thing was that when she got out of the boat and saw it moving around that she was laughing so hard she fell back into the water.

So this is a typical Taylor in the morning. Yes that is a mountain dew, she steals my husbands left overs from the night stand every morning. As picky as she is with what she eats and drinks the doc says what ever she'll take in works. lol
So with all this new activity since her legs stated walkin she really does crash anywhere. She has always needed alot of sleep but since school started she really has full days with half of the day being thereapy & the other school. It wears her out!!! Yea for us cause now she sleeps through the night!!!

So our little angel is so amazing in so many ways and she brings us soooo much joy. I hope that sharing our journey with you as other 1p36 delition parents and friends/family of us may help bring courage & new hope into your lives. She is so full of life so get ready to live the laughter with us.