Like any new parents, we were so excited to start giving our son baby cereal for the first time when he was about 4/5 months old. He loved it! However, we quickly realized something wasn't right when soon after he completely stopped pooping.
After several trips to the pediatrician and trying all the usual tactics (prunes, warm baths, bicycle legs, stimulation) and none of them working we knew something else was wrong. He was going 10+ days without pooping and his only sense of relief was by giving him suppositories. Our pediatrician quickly referred us to a pediatric GI. While waiting for the appointment I found out that my cousin (who lives in another state) had Hirschsprung's Disease and that we needed to inform the GI.
When it came time to meet with the GI, his first thoughts were Celiac's Disease or a thyroid issue. He was going to send him for blood tests and nothing else, until I mentioned the family history of Hirschsprung's. His jaw dropped when I told him and he went ahead and ordered a contrast enema to be done right away.
We went and had the blood work and contrast enema done the following week. For those of you who don't know what a contrast enema is its where they have to insert and tape an enema rectally into your child and you and several nurses have to hold him down for 30-45 minutes while an X-ray technician takes pictures. We waited a few days for the results.
I'll never forget the moment they called and told me that my then 8 month old had signs of Hirschsprung's and would need a rectal biopsy to confirm. Before I go any further I want to explain to you what Hirschsprung's Disease (HD) is. It is a very rare (1 in 5,000) congenital disorder affecting the colon. The colon in HD kids is missing the ganglion cells that help it contract to push stool through. Although HD is not curable there are steps that can be taken to give kids the most normal life possible. The most common procedure is to remove the section of colon missing the ganglion cells, called a pull through.
By August of last year he had his rectal biopsy done and it confirmed our fears, Sylas had an official diagnosis of HD. The contrast enema showed that his chronic constipation had gotten so bad that his colon had swollen 4 times the size it should've been. Because his colon was so swollen they could not effectively do the pull through. He needed to have a colostomy bag put in to give his colon time to heal first.
Unfortunately, his surgeon was going out of country for six weeks and could not preform the operation until she got back. During this time she had us do rectal irrigations twice a day to keep him from getting backed up while she was gone. These were no walk in the park.
Once she returned in October he was one of her first cases. He had surgery to put in his colostomy bag. Once we got home our whole lives were turned upside down, having an infant with a colostomy bag was a complete struggle.
We made it to February and his colon had gone down far enough to successfully do the pull through surgery. We had it done and she left the colostomy for an additional six weeks to let his colon heal before releasing his stool through it.
In April, after six months of fighting with the bag, we finally had the colostomy reversal done! At this point we thought we were home free! We were told he would be pooping A LOT for quite some time. And he did, for the first few weeks.
Since his last few surgeries we have had to do rectal dilations sometimes multiple times a day. This is done by inserting a metal rod into the rectum to keep scar tissue from forming at the surgery sight. We have also had to revert back to enemas and suppositories to keep him regular.
Due to everything he's been through in the last year the pediatrician has told us he is suffering from a form of PTSD. This has caused him to never sleep through the night and have a minor speech delay.
We've now hit a dead end and he is struggling to poop, even after tons and tons of laxatives. Our doctors here in Florida have done everything in their power, but they are just not experienced in HD, due to it being so rare. We have reached out to the world renowned leader in HD and he wants to see Sylas! We are planning a trip to Ohio in the next month or so and need all the help we can get! Insurance will not be covering this because it is out of network. I have been out of work for the last year caring for him so things have been tight. We need to get our sweet boy to Ohio to get the care he deserves.
Everybody NEEDS to poop!
** Any funds not used during the trip will be donated to Hirschsprung's research in hopes our grandchildren will not suffer the way he has**