Another test brings bad news...

Colin had a barium study done 2 days ago to check why he is still refluxing so bad after his malrotation surgery done in December. I went fully expecting to get news that he would need a fundoplication surgery. I left wanting to cry. They found barium coating his trachea meaning he had the dye in his airway and could be the reason he has had so many lung infections. However they repeated the GI study with a dysphagiogram where they check to see if he aspirates while eating/swallowing. That test was completely negative. So we left with more worries and more questions and more tests to be done in the future. The pulmonologist called yesterday to discuss her concerns and what she wants done. Basically she wants to see if he gets sick during the summer months. If he has more respiratory infections then she wants an airway evaluation done where they put him under to stick cameras down his throat to get good looks at all parts of his airways. She doesn't want to do that to him unless he gets sick again though. Also something to discuss if he does get pneumonia or another resp infection is whether they should stop feeds by mouth and surgically place a gtube. It has been a rough couple of days because of this news. Also the barium they use for both tests cause severe constipation and he is just miserable. He has thrown up several times bc of it. Just breaks my heart to see him in pain. Luckily I don't have to work until Monday so hopefully today or tomorrow he will finally get the barium out.

Welcome to Holland

I created this blog as a place to write about my everyday adventures in a place affectionately known in the special needs realm as "Holland." My now 6 month old son Colin has an incredibly rare syndrome called Emanuel Syndrome. There are roughly 200 confirmed cases worldwide. He is such a blessing in my life but he requires a great deal of medical care. It is an extremely stressful life but also is very rewarding. He teaches me everyday to focus on the here and now. He teaches me to just slow down (to smell the tulips) and ENJOY him and to get excited about the small things. Milestones that I just expected with my almost 4 yr old daughter are very big deals with Colin. I guess for an outsider I need to explain a little about his syndrome and what challenges he faces on a daily basis. He was born with extra genetic material which means he has extra chromosome. It has caused multiple birth defects (2 of which had to be surgically repaired at 2 months old- a diaphragmatic hernia causing a large portion of his liver to be in his chest causing respiratory distress and an intestinal malrotation causing his intestines to be twisted the wrong way). He also has a hole in his heart that may need to be repaired, a very sharp angled and high palate causing feeding difficulties, extra tissue in his airway that causes him to be a noisy breather and difficult to place a breathing tube, severe reflux that may need a surgical intervention, constipation requiring laxatives to be given multiple times a day, hearing loss requiring hearing aids and tube placement, and torticolis (he only lays on the right side of his head) which requires physical therapy and him to wear a helmet to help reshape his head. We are still waiting on all his specialist appointments to find out if he has other issues we don't know of yet. He is such a fighter and just amazes me everyday how happy and content he is with all that is going on in his little body. I have been blessed beyond words with very strong relationship bonds with other Emanuel Syndrome (ES) parents I have met through Facebook and a wonderful person named Stephanie St-Pierre who has devoted her life to getting us all in contact with one another. This is all I will write tonight because my 3 yr old is running circles around me and it is time for Colin's meds.