We had our genetics appointment yesterday. I wasn't expecting much since we got the results back on Monday. Unfortunately, they still believe John has fg syndrome, and did another round of testing yesterday. I am not sure how I feel about all of this. Genetics is so confusing to me, and there is never a 100% diagnosis. Whether he has a normal or abnormal test result. So John got to go and get his blood drawn again. I can't even count how many times he has had to get blood drawn. Again whether he has FG syndrome or not, we still have to continue doing what we are already doing which is keeping him in all his therapy. If only there were more days in the week for all of this.
On a good note, John is now walking holding my hand! It is so great, he is so proud of himself he just squeels and laughs. He has almost fallen down because of his uncontrolable excitement. His speech therapist is working on sign language with him, and his has learned a sign for twinkle little star.
Again, I want everyone to know how amazing this little guy is. For those of you who don't get to see him often, or not at all, he is the sweetest, happiest kid you will ever meet. The one thing that I have learned about him is that more than likely he has a genetic deletion. I do believe this for many reasons, but I am sure that his unhappy gene was deleted.

My bad week just got very good! John was cleared from Cardiology today. His heart is fine, and unless his lung issues effect his heart in the future, we should be able to stay away from Cardiology. I also got a phone call right before the Cardiology appointment from Genetics. John does not have FG syndrome! Again this is great news. I love to have this scratched off our list. They still want to look at that gene closer, but for now I am happy the first test came back normal. So our stressful week just made a turn in our favor! It is about time.
As of our dog situation, with time to think about it, we are going to do everything we can to keep Jasmine! There still is a chance that with his lung problems and his chronic sinusitis they may recommend us give up the dog, but for now I am going to hope for the best. The blood work will give us a better idea to how allergic he is, and if the dog is making John's symptoms worse. As of now, both of the kids as well as Johnny and I benefit from Jasmine, and could not imagine life with out our lab! I am so glad I have nothing but good news to report. I have been so stressed about this week. I know that we will just begin another round of genetic tests, which means another 6-8 weeks to get that test back, but for now I can still have my hope that John can outgrow this. Another hard part of these genetic disorders is that Sienna would not be able to have children because of the high chance of her being a carrier. I cannot imagine having to pass that news on to her one day, So I will continue to hope for the best!
Hope all is well!

I wish I could go to an appointment without coming home with any news! Today we had our allergy appointment... dog allergy! So now what do we do with our wonderful family lab. Give her up too. We have already given up our home, our friends, left our belongings in Colorado, and now we might have to give up our dog. We have more testing to do for allergy and immunology, but I chose to wait until next week to get the bloodwork done. It will tell us how allergic to the dog John is. We are going back to genetics next week, and there is a good chance we will have to give some more blood for that, so I wanted to wait so we could do it all at once. I am so tired of having to hold my son down so someone can take his blood. So that is what happened today. Obviously it is not a good day, but am not making any decisions until we get the blood results back. Wish I had better news today!

I got the best valentines day present this weekend. Johnny took the kids to Vermont, and I had the whole weekend to myself. I had to work a bunch, but it was so nice to have some time to myself. I got my haircut and chopped my hair! A little short, but I like it. The kids had a great time. Sienna skied, and Little John slept. It was nice to get them back. John and Sienna had their dentist appointment last week, and Sienna did great, but John did not like the appointment at all. We had to force him down to get into his mouth, and turns out he has two cavities! They aren't too bad, but we will go back in a month and try to decide what to do about them. I have never had a cavity, so this is all new for me! We had our therapy appointments, but it turns out that I had looked at the wrong month, and all those appointments I had talked about are next month. This week we have allergy. They will test him for any allergies. He has had this before, but only for cat and dog, and he was too young for it to show correct results. We have therapy, but it should be a good week because I got Sienna in Dance camp on Tuesday, and on Thursday if she likes it. So I will get a break! I hope you all had a wonderful weekend.

Here are some pics from xmas. I finally got them downloaded.

Yesterday Sienna had another playdate. She met this girl at ballet, and I swear they have been friends for ever. They were singing and dancing, and having a great time together. I am so happy to see her begin to make new friends. Her mom was even fun to hangout with. She is about to have baby number #3, and was fun to talk with while our girls performed.
After the playdate I realized that I had missed a call from our pediatrician. I called her back, but was not able to get intouch with her until it was time for me to go to work today. I stressed all night that she was calling about John's genetic test results which are supposed to come back any day. Instead she totally shocked me with news that after John's EKG the learned that he has an enlarged muscle in his heart. So we must now go see a cardiologist. I have been told by others that this is no big deal, but to me it is a huge deal. I have felt that throughout this whole rollercoaster, the one good thing was that we did not have any cardiology issues. I have even said that a ton, but now we need to go get his heart checked out. I am so sad about this, but am hoping for the best. He did have a bad sinus infection, and whatever his lung issue is, so maybe his heart has just been working overtime. I will keep you all posted.
Again I have to say how wonderful our therapy is going out here. I was not happy with our therapy we were getting in CB, but really had nothing to compare it to. It was a big reason for our move. We still haven't even started feeding therapy, or Laryonthology (however it is spelled), but we do have PT, OT, and now speech every week. I am seeing such progress with them, and am very impressed with our therapists. It is keeping me very busy during the days, but am glad to see it benefiting him.
I hope you are all well.

It has been a busy week, and I am finally getting a chance to write. John is doing very well. His therapy is going so good, and we are seeing such progress in him everyday. Wednesday we had an apointment with his nutritionist. We are working on a plan to get him to start eating by mouth. She is hoping to get his feeding tube out in 9-12 months. I would be so excited, but will just continue to take one day at a time. We have to cut his calories back for three weeks, and he will also be given a medication to stimulate hunger. They plan on him loosing weight, but he now has enough fat stored now that he will be fine. We then met with another neurologist on Thursday. The other one we met with was wonderful, but he was not affiliated with Children's, so I wanted to meet with a neurologist at Children's. He talked about some possible tests for the future if the genetic test comes back negative. He also had some ideas of programs for us to get involved in at Children's which is another reason why we went to see him. I have learned that it is so easy to do everything at the same place, so they can all communicate with each other, and I know no tests will be repeated.
We finally got to have our first play date this week. It was so nice to see Sienna playing with another kid. Her friend also has a little brother so it is good for little John as well. We met at the science museum which was so neat. I love the museums here in the city, as well as the indoor playgounds I have found. Sienna has another playdate with a different girl on Monday. So hopefully we will begin to make some new friends.
Another quick story, John has been very interested in fish tanks lately. He has been getting his little pointer finger out again, and pointing at them, and talking to them. Not sure what he is saying, but it is so nice to see him do this. So being the mom I am I got him a tiny little fish tank. Sienna decided she would teach him how to take care of the fish, so she gave him the instructions. He then put his arm around her, turned and gave her the longest, biggest hug. It was so sweet. She is always trying to hug on him, but he is never interested.
We have a very busy week. We have 5 doctors appointments, and 2 therapy appointments. So hopefully I'll make it through the week. Wish us luck!