Eli's story ( after the diagnosis)

After we found out what his tumor was I quickly started to google it. Everything I read kept saying this type of tumor is associated with a genetic disorder called neurofibromatosis or NF. I asked the doctors if they thought he had NF. They asked a bunch of questions and looked at his skin. They saw all his birth marks and said that they were called cafe au lait spots and with the amount he has along with the tumor they would clinically diagnosis him with NF1, but to be sure they also took some of his blood for a dna test to diagnosis him that way as well.

The dna test took about a month to come back and it was positive for nf1. For a while all I could do was focus on finding someone to remove his tumor and make him normal. After speaking to a couple of different doctors, even a few out of state I have finally came to terms with the fact that this massive tumor will always be with him. Everyone I've spoken to say that to remove the tumor would do more harm than good. It sucks that he has to suffer, but at least he is here touching mine and everyone else's heart that he meets. In October he was put on an ng tube to help him eat since he still can not swallow and aspirates his formula. He is almost 18 months and weighed in at 18 pounds the other day. So the tube feedings are definitely helping. We are waiting for the gi dr to schedule surgery for them to place a more permanent tube called a g tube or button. He was also diagnosed with severe sleep apnea. During his sleep study he stopped breathing 64 times in an hour and gasped for air 115 times in an hour. Since the diagnosis we have switched most of his care from Dallas to Houston where they are in the process of sending us to different specialist like ent, ophthalmology, heart and lung and gi to get their opinion on the tumor and make sure that he is OK in those areas or if parts of the tumor need to be removed. I'm not really sure what to think or expect from these appointments. I'm not sure how I would feel about them wanting to remove parts of the tumor and not all of it. Some days I still find myself throwing a pity party. I try and remember there are other families and kids going through more then we are and to be thankful for the time we have with our children and to remember the lord has a plan for us.

Eli's story (before the diagnosis)

Eli was born August 2010. He weighted 8 pounds 9 ounces. We had him tested at birth for a genetic disorder that my husband has called osteogenesis imperfecta, it is also known as brittle bone disease and OI. At 2 weeks old we got the news that he tested positive for OI type IV. We knew the chances of him getting it was 50/50 but since our first son Dakota didn't have it we were hoping he wouldn't either. We accepted his diagnoses and decided to just live life and deal with things as they come up.

Eli would randomly projectile vomit, after an ultrasound and upper gi we were told everything was normal and he will grow out of it as he gets bigger. The throwing up went from random to after almost every feed. The doctor didn't seem concerned and said his low weight was from his OI and that he "looks" healthy. At 6 months when we tried to introduce solids he would either refuse or end up choking on the baby food. After a few months I spoke to his doctor. She suggested therapy and if that didn't work they would send us to childrens to see a specialist.

In the end therapy didn't work and the appointment was made. They couldn't get us in for 3 months so we would just have to keep working with the therapist until then. During that 3 month wait I noticed his lymph nodes were very swollen, most of the time they were bigger than a golf ball. The doctor said it was probably just from all his ear infections, but gave us a referral to an ent at childrens. Again the wait time was 3 months.finally the day had arrived to visit the gi doctor. We went over all of his symptoms, even the ones that were not gi related. I told her I felt like everyone was blaming things on his OI and he wasn't getting the help he needed. She was amazing and listened and agreed that what was going on had nothing to do with his OI and she wanted to run a series of tests to see if we could figure out what was going on. She ordered a chest x ray to check if he was aspirating, an upper gi to make sure his anatomy was correct, a swallow study and an mri of his skull to check for a fracture that could cause the vomiting.The chest x ray and upper gi was scheduled for the same day. Everything seemed to go well and we went home expecting a call saying the same. The next day my husband got a call saying the chest x ray showed a possible mass in his chest and his trachea was shifted. They scheduled a ct a month out. We were worried but didn't want to spend the next month worrying about something we didn't even know really existed or not. About a week later Eli got a staph infection on his butt. After 2 visits to the ER they admitted him for IV antibiotics. They then decided they wanted to do surgery and put a drain in the infection to help keep the wound open and the bad germs draining out. I was fine with all that so we headed down to pre op. The anaesthesiologist came in and was going over his history and what to expect. I told him what we just found out about the possible mass in his chest shifting his trachea and he immediately cancelled the surgery and scheduled him for a ct scan. He didn't want to put him under until he knew what was going on with his trachea. Later that day they took us down to the ct room and I had to help hold his hands above his head. I think I was still in denial about this "possible" mass and wasn't prepared for the results. Later that day they came in and showed me the ct. It literally looked like a tree branch was going throughout his chest. They said that this mass was also going into his neck and abdomen and they wanted to run an mri the next day. They said they weren't for sure what the mass was but it looks like some sort of lymphatic malformation. I had no idea what that was but I was scared and all alone at the hospital since my husband had to work. The surgeons came in and explained that Eli would have to be sedated for the mri so they were going to place the drain in his staph infection before sending him down to the mri. The next morning we went back to pre op and I waited for them to take him back. Its so hard to watch your sweet little baby being wheeled away on a gurney with doctors you barely know. All I could do was pray. After the surgeons placed the drain they took him down to the mri room and came and got me so I could see him before they started the mri. They showed me the drain and I got to give him a kiss before I was told to go wait in the waiting room. Time stood still that day. I was still all alone and just wanted to cry. They updated me about every 45 minutes. It was only suppose to take 2 hours but they found the tumor was going further down then they expected. I was crushed and just wanted this all to be over with. Finally they came a got me and took back to him. He was already awake and crying. I held him and rocked him until it was time to take him back up to his room. Later that evening a doctor came in and introduced himself as an oncologist and I was terrified at that point. They said they were not sure what the mass is but it looks like something called neuroblastoma. They said the tumor starts at the base of skull and goes all the way down to his kidneys. They wanted to sedate him and do a ct guided needle biopsy of the mass to figure out what it is. The next day they took us down to the ct room and once again he was sedated and taken away. After the procedure the doctor told me that the mass was very hard, but she was able to get a small amount from the biopsy. She was going to send it to pathology and they would be able to tell her if it was enough of a sample. She said if it wasn't enough they would have to sedate him again and do a regular incision to get a bigger biopsy. The next day they came in and told me that they didn't get enough and they were scheduling the regular biopsy for later in the day. They also said that if it was neuroblastoma they would be putting in a port while he was sedated so they can do chemotherapy. It was all very overwhelming. When it was time for him to be sedated again I felt like an old pro at that point, I kissed him goodbye and once again watched them wheel him away for the 3rd time in less than a week. I was praying that it wasn't neuroblastoma and he wouldn't need chemo. when the doctor came out he told us it was good news he wouldn't need a port the tumor is something called plexiform neurofibroma. I had never heard of it and had no idea what it was and what we were facing, but at least we had a name.

Introduction

My name is Ashlie and I am 29 years old. I met my husband Floyd when I was 17 and we got married when I was 20. We had our first son Dakota in 2008 and our second and final son Elijah, we call him Eli, in 2010. I'm starting this blog because Eli has 2 genetic disorders, osteogenesis imperfecta type IV (OI) and Neurofibromatosis type 1 (nf1) and he also has severe sleep apnea, I want to share his story, meet other people who have similar stories and just keep track of what is going on with him.

After this intro I will work on Eli's back story and how we found out about all of his disorders.