It has been awhile....

I have neglected this blog for quite awhile. I use Facebook for my updates and honestly everything has been so crazy I haven't been able to sit down for a long enough period to write. Not even sure where to start as we have seen so many Doctors so instead of chronologically I shall update from head to toe! We discovered Colin is unfortunately having seizures. They are centered in his right frontal lobe and they occur some days up to 20 times. They are very short and only last 5-10 seconds. First his eyes roll back into his head, his eyelids flutter, if sitting up he loses muscle control and his head drops and about half of the episodes his left side of his body jerk and shake. He is currently taking Trileptal to control them and so far he hasn't had any big side effects from it and I am very thankful for that. The hole in his heart originally considered an ASD is confirmed to only be a PFO which means it needs no repair or treatment and isn't causing any issues. However, he did some some mild pulmonary hypertension. It isn't enough to warrant treatment but his cardiologist will monitor and recheck in about 4 months. The biggest news by far is that bc of his frequent respiratory infections and weight loss he had a Gtube placed Dec 7th. He also had a fundoplication at the same time. A fundo strengthens the flap that holds the stomach contents inside so it will stop his near constant reflux he has had since birth. The G tube is huge as it means we can finally ascertain if aspiration was the cause of his respiratory issues. I am hoping that this means fewer hospital admissions than last winter. It will also help me put some weight on him as he fell drastically off the growth charts. He is still recovering from this and it requires quite a bit of equipment to haul around. Some parents try to hold off as long as possible to go to a G tube bc it makes them feel like a failure as a parent. Honestly I never viewed it that way. I guess knowing that about half of the kids with his syndrome end up with one at some point in their lives helped bc I have anticipated it for a while. Because he has an under developed lung I have had to really be vigilant about breathing treatments and I was always so worried anytime he was sick that he would aspirate. Actually multiple drs have been AMAZED that he hasn't ever had pneumonia. A respiratory therapist told me yesterday that for him to have a diaphragmatic hernia it is a MIRACLE he hasn't ever spent time on a ventilator, in the ICU or with pneumonia. But knowing he can be fed through this tube takes a huge weight off of me. Developmentally he is very delayed and it is hard to accept sometimes but seeing his amazing smile makes all his therapy worth it. I still have difficulty with seeing other kids his age bc of the huge walking milestone. In fact a couple months ago a coworker of mine announced that her daughter (who was born 2 weeks after Colin) was walking. It literally felt like I had been punched in the gut. But then a few days later she was in the store and I witnessed her walking. I lost it. I ran to the back of the pharmacy and started sobbing. I could hardly breathe. She rushed back and profusely apologized but it was NOTHING she did. It was something I needed to go through. It was another milestone that won't be hit for awhile (or ever). I have to go through things like that to fully appreciate every little thing he does do! Of course it hurt but I had my cry, wiped my tears and went on. And that night when I got home I hugged my little man and just loved on him. This life is FAR from easy but I am so blessed it is amazing. Who else can look at their child and see a true miracle, hero, angel, pure contentment and pure love??? He is literally the purest soul I have ever met. He only knows love. He only knows how to be happy. He is just the most perfect creation in my eyes dispute the world seeing him as handicapped and disabled. On Dec 19th I am seeing a neurosurgeon in Kansas City, Missouri that has experience operating on cysts like mine on my spine. I am praying that he is able to operate on mine and give me pain relief. I ask for your prayers as this is literally my last hope. Only 4 drs in the country operate on these cysts. My back has gotten so bad I am unable to work anymore. Fortunately my employer has paid disability so I can focus on getting this fixed. Having my pain reduced would change my life in so many ways. Please...anyone reading this pray this Dr will be the miracle I need!

GI clinic update

So GI appt went well. I really like his doctor. Bc he only refluxes a lot when he is trying to poop she wants to wait on the surgery to tighten the valve above the stomach. She has an interesting theory that makes sense to me but I would've never thought of it. She is ordering a rectal biopsy to check to see if he is missing the nerve endings that tell the muscles around the rectum to push. She got to witness his struggle to get a very soft BM out and his face turns red and he grunts. I am not exactly sure what, if anything, can be done to "fix" it if that is the case. She has instructed me to add miralax daily with his lactulose and to use a glycerin suppository (or thermometer or finger) to stimulate bowel movement every other day if he doesn't go on his own. So we will do that first and may do a PH probe later followed by surgery if needed or if he gets another respiratory infection. She hopes he outgrows the reflux. She also mentioned his anus being lower than usual. That could be causing issues too but she said the opening is a little on the small side but not extreme. So hoping after his biopsy that should be scheduled soon will bring answers and direction to help him. Thankfully this biopsy isn't painful (just uncomfortable) and will not need sedation of any sort. Just an enema before to clear him out.

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.