Jack's 20 months Journey to CCHS. .

I managed to created a mini video of Jack's (20 months) journey. He went from birth, straight to NICU for a month and 3 weeks. In-and-out of PICU throughout his first year of life due to either surgeries or oxygen. He's had a total of 6 surgeries

No matter what Jack goes through he manages to overcome the hardships that come with dealing and coping with problem's with his airway. He's such a happy go lucky child who loves to eat. He is very curious as the world around him is still very new to him. He is now 21 months and he's come such a long way from when he was 0-3 months old. We can't left a rare disease define who really is.

As his mother, I'm hoping to educate and bring awareness to others of "Ondine's cure" (CCHS). When i got the news that Jack tested positive for CCHS in the Children's Hospital. My initial thought was "So what now?"...  "What is CCHS?"... "How can I help my child's?" So many How and What's racing my mind. As a young adult in the tech world I googled "Congenital central hypoventilation syndrome" and read up as much info about it as much as I could, but that still was not enough! Little did i know that I needed to know Jack's PHOX2B mutation. There are several mutations, and after calling Ambry Genetics and electronically signing a medical release form I was finally able to get his mutation. Jack is NPRAM. Without knowing his mutation I was still missing the main keys to keeping Jack as stable as i need to. Once I was given the mutation report everything fell into place. I was able to learn about the mutation and it's followed issues. I haven't seen signs of Hirschsprung nor neuroblastomas.

Options & Decisions

Options are great, if you have any. well come to think of it it may not always be good. You might only have one or just way too many. There are three options for CCHS which are tracheotomy, bi-pap mask, and diaphragm pacers.

• Trache's are the most common type of surgical procedure done especially in babies as well in children and even some adults. It is among the oldest described procedures. consists of making an incision on the anterior aspect of the neck and opening a direct airway through an incision in the trachea (windpipe). The resulting stoma (hole), or tracheostomy, can serve independently as an airway or as a site for a trache tube to be inserted; this tube allows a person to breathe without the use of his or her nose or mouth. There are two types of traches; cuff and cuff-less. A cuff trache is like a cuff-less trache the only difference is there is a "balloon" that gets inflated and secures the trache in place. 
• Bipap masks are simply a mask that ties around the head to stay in place while asleep. They are recommend more for older children and adults but some babies do use them. They come in all different shapes and sizes. 
• Diaphragm Pacers is a surgically implanted device used to help patients breathe following complications. The device works through pacing of the diaphragm. 

With Jack, I was told that with his airway defect it would be pointless at this point to get the pacers done because he would still require an open airway (trache). Which means he would undergo surgery for pacers and have his trache. The pacers are a way of more freedom and less equipment. I will have to speak with doctors who are more familiar with diaphragm pacers and airway defects who can better answer my questions and give me a better outlook on Jack's future to pace him. 

This is what a Diaphragm Pacemaker looks like:

Jack using an HME for the first time

Cardiologist

My son, Jack, was referred to Dr. Rabih Hamzeh. A pediatric cardiologist here in the Heart of Texas... Hehe.. a little heart humor. To be monitored on his heart due to a 2d echo done in his 3 week stay in El Paso Children's Hospital. Well actually he was originally referred with Dr. Jeffrey Schuster but he wasn't accepting new patients till February 2015. I didn't want to wait that long, the only other option they gave me was to meet with Dr. Hamzeh. So I scheduled with Dr. Hamzeh, who was actually such a delight to work with. He knows a little about Ondine's curse but asked to know more. He also gushed about how cute Jack was, as well as his assistant. During the month of December I received a letter in he mail, he wrote up two (hospital) orders of tests; a 2d echocardiogram and a EKG to be done before seeing him again. I should get the results in 3 days, hoping everything isn't too bad. 

Another CCHS mom told me about her daughter getting a 24 hour holter study, which is one of the things I plan to bring up to Dr. Hamzeh. It'll be rough having a 20 month old of liking the idea of having attached wires for 24 hours, but that will give us a look of when he's active and asleep. Proper ventilation is key to keeping Jack stable. Jack's vent settings were actually changed and his heart is a lot better than before, his heart levels before were between 130-145 and when he gets upset, as high as 160! His levels now are 101-135. So that's a whole lot better! 

Once I hear the results and the next step of action I will be posting that up.