We recently had an appointment with almost all 21 doctors and therapists of Isaac's.  I must say our family is extremely blessed to have so many intelligent minds working with us.  They discussed different procedures they want to go through with in August if we still can't get Isaac off of oxygen during the day time.  Isaac's diagnosis is in question right now but for now he is still said to have Cornelia de Lange Syndrome (CdLS) until proven differently.  We are enrolling Isaac in a medical study for a newly discovered syndrome called CHOPS. CHOPS was discovered by a genetic specialist named Dr Kranz, in Philadelphia. There are currently only 3 people in the US who have been diagnosed with CHOPS. If Isaac does have it he will be the youngest person to be diagnosed and would prove a great resource for the study. We will be going to Philadelphia soon to have Dr Kranz examine Isaac and do some genetic tests. Dr. Kranz is world renowned for his knowledge in CdLS and is considered the foremost authority on the syndrome. People are referred to him from all over the country by geneticists who suspect CdLS to diagnose their children. Because of that he had also become a foremost authority in things that look like CdLS but aren't. That is how he discovered CHOPS. So, even if Isaac does not have CHOPS or CdLS Dr. Kranz will be the best person in the world to tell us what he does have.
Isaac's walker has proven to help him developmentally in more areas than we could have imagined.  Since he started walking with his walker, he is babbling more, he is much more physically active, and he seems to be more curious about everything around him.  He puts a lot of objects in his mouth, unfortunately food is not included in those objects. He does not like eating and usually gags  or does a little head shaking dance to say "no thank you".  In order to help him have more of a desire to eat we let him play with as much food as possible.   He is completely off of fructose so his diet is very limited between the texture and the content of food he is aloud to eat.  Non the less, with his new blenderized diet that he eats through his G-tube, he has started gaining weight again which makes everyone happy.
Also, it seems as though Isaac does not have 3 teeth. He has all of his teeth that he should have for his age except for the lateral Incisor and Canine on the bottom right and the Canine on the bottom left.  There are no signs of these teeth even starting to come in. They will be doing x-rays soon to see if these teeth are not there or have simply not come in yet.  That's all we have for now.  Till next time, we hope all our family and friends are doing well.

            It's been awhile since I've written about what is going on as I have been working on getting my CNA to take care of Isaac, but in general Isaac is progressing and standing still all at the same time.  To note the positive information first, Isaac received braces on his ankles to give him support as well as a walker and I can't tell you how excited he was to walk like his sisters do.  His smile was from ear to ear as he pushed himself to move with all the strength he has.  He has also began crawling up the stairs very well and he is very close to having all the confidence he needs to crawl down the stairs too.  He started saying Mom about two weeks ago, which of course makes me very happy, and recently he has started liking basketballs, footballs, soccer balls and more. Isaac's ears were good when the E.N.T. saw him again and after a hearing screening they said Isaac's hearing is also good. Isaac's eyes continue to water and gunk even after getting the stents put in for a time and then taken out but not as much as they use to so we will continue to watch them closely and we are postponing the procedure called Dacryocystorhinostomy for now.  There is fortunately still hope that Isaac will grow into his wide nose and his tear ducts will not be pinched as much as they are now, therefore avoiding the Dacryocystorhinostomy procedure all together.  Isaac has started getting use to his glasses and only takes them off to chew on them when he is bored of sitting (hence we take them off when he is eating or sitting in the car).   After going to his swallow study test, we were told Isaac can eat 3 to 7 bites of soft foods (the size of our pinky nail) and he can drink 3 to 5 ml's of liquid through a syringe very slowly per day. This was exciting as on Isaac's 2nd birthday he was able to have a little bit of a brownie and some ice cream. We saw an Immunologist and after many tests, Isaac's Immunologist said Isaac is not allergic to anything and he does not have an immune problem.  He told us that Isaac's structural issues are part of Isaac's biggest problem and cause him to get more sick and stay sick longer than most kids.  The Immunologist also told us that Isaac is safe to travel but we need to remember that he is still very young and he is still building up his immunities.
             With the information from the Immunologist I thought, "Great! We can travel, keep Isaac safe, and everything will be great!" I really did think it was safe to travel after this conversation with the Immunologist so we planned a vacation to Washington. But now for all of the bad news... no more than two weeks later Isaac got very sick with the flu, the common cold, and the Adenovirus all at the same time.  He was admitted to the hospital where he was put on 6 liters of oxygen to help him breath smoothly and he slept for three days straight as he had no energy to even sit up.  After almost a week of being in the hospital Isaac was able to come home on 1/2 a liter of oxygen day and night. We obviously canceled our trip to Washington and in the last month Isaac has been able to come down on his oxygen a little during the day, but we cannot get him off of it completely nor can we bring him down on his oxygen at night. I'm sure God stopped us from going to Washington knowing all too well how Isaac is right now and how careful we need to be with him. I was in denial as I so wanted to visit family in Washington but thankfully I have good friends and family who helped me to understand that now is not our season for traveling and we just need to keep on moving forward.  Isaac's pulmonary Doctor said he will probably do another bronchoscopy soon to check Isaac's lungs since he is having such a hard time coming off the oxygen.  Isaac did go through the sleep study before he got sick and they found that his heart rate drops during 9 pm and 12 am to as low as 41 and then between 2 am and 5 am his oxygen drops significantly as well.  He has a small case of sleep apnea when his oxygen drops early in the morning and no one knows why any of this occurs.  Isaac is either plateauing in weight or losing weight so the GI Doctor and the Pediatrician have tried increasing Isaac's G-tube feedings but his stomach is distending too much despite our constant actions to vent him. We are in the process of changing his diet to a more natural diet and hopefully this will help the distending of his stomach but in the mean time a big meeting has been arranged between all 21 of Isaac's Doctors and therapists to figure out what they all need to do and what procedures need to be done next.  Isaac's pediatrician said quote, " Nothing about Isaac is normal." So we will continue to press forward and be grateful for the areas of development Isaac is doing well in.