This is my wonderful baby boy Ryker. He is 2 years old and the most amazing little guy in the whole wide world. He is my rock. He finds humor in everything, loves to make everyone laugh and has the best personality EVER. I wish I had a few of his traits....well as many of you know Ryker has always been a little different. His voice has always been hoarse and grawly, almost like if you watch The Little Rascals, he sounds like Froggie. Its just always been Ryker, but as time went on Chase and I started to become worried because it wasnt going away. He talked like this all the time, never giving his vocal cords a break and if any of us even tried to mock him we would have to cough or clear our throats. This just wasnt normal. He also has a very large bottom lip that we know wasnt hereditary....This thing has always been pretty big. Strangers or people that didnt know him very well would often ask me if he had fallen on it or if he had a cold sore or something....nope.....thats just Ryker. I have taken him to his pediatrition many times, and his ENT, no one ever had an answer. The reason why his lip was big is they were telling me that he chews on it....well I've never seen him chew on it but ok. Then the excuse for his voice started out as he was forcing it, just making his voice do that. Then I changed ENT's, he thought Ryker had acid build up on them, he scoped them and nothing.
As frustrated as I was, I just thought I needed to see if he would grow out of the voice thing so I waited almost 6 months and nothing was changing. The only thing changing was Ryker was starting to talk more and we were hearing this grawling voice more and more. I changed ENT's a third time and went to Dr. Heidi Heras (who I absolutely recommend) she was the first person who sat there and listened to him talk for quite a while, and was so interested in him that she wanted an answer, right then and there we made an appointment to place tubes in his ears, take out his adnoids, and do a throat scope to check for anything that might be causing this voice of his. She also wanted me to see someone a little more familiar with this sort of thing so she recommended me to an Oral Maxillofacial Doctor named Dr. William Mcbee. We got in to see him about a week later. At first he was more interested in his bottom lip and looked very closely at it and at first he had decided that it was clogged saliva glands and for me to bring him back in 2 weeks or so and we'll see if it looks any different. So in 2 weeks I take him back and Dr McBee has what he thinks another idea as to what it could be. He spoke to a lot of different pathologists and they think it could possibly be Granulomas, and they wanted to do a biopsy of his bottom lip. I told him about Dr Heras doing the tubes and everything and since he was already going to be asleep he was going to have her do a small biopsy for him so we could get this figured out.
March 15th comes around and its Rykers big surgery day! He was such a trooper and did so well....all except for the part he had to wear that gown...he was not having it!! They placed tubes, took out his adnoids, put a scope down his throat to look at his vocal cords and did the biopsy. Then we got to play the waiting game. I wasnt getting the results back for 2 weeks. The stress begins! I had to wait till April 1st to get in and see Dr Mcbee!!
March 31st I get a call from his office saying I needed to bring Ryker in so they could take more pictures of him, I asked if they had the biopsy results were back, the nurse said she would ask the Doctor when suddenly he gets on the phone.
"Hi Mrs. Cooper, this is Dr Mcbee, we got the results back, its not Granulomas."
me: "Oh well thats wonderful news!"
Dr:"Well okay heres the thing, the pathologist that did Rykers biopsy called me and the first question he asked me was does Ryker have an oddly toned voice? I told him yes, and he said alright then we have a diagnosis for you. Its something called Lipoid Proteinosis, its extremely rare in fact so rare that I dont think many pathologists would have caught it. "
me: "well then the voice and the lip are all tied together oh wow, so okay what do we do from here?"
He couldnt really tell me much over the phone, because he didnt really know much at all about this, he had never even heard of it...he wanted me to come in the next day as planned and we would talk more then.
So the next day I go in to the office scared out of my mind, the doctor comes in our room and the only things he could tell me were that this is so rare that Ryker will not be able to be treated here or anywhere close to here, in fact we dont even know where the study group is that studies this disease, but we're going to find it. Its so uncommon that it normally only happens when parents of a child are related.(Which in fact Chase and I are not!) Its so rare for 2 people to have this same gene that makes this ECM1 gene that this is probably going to be the medical discovery of the century, not only that but Ryker also is the youngest person to ever be diagnosed with it. He told me to go home and do some research and he would do the same and we would meet back in a few weeks and compare notes. He also took pictures and a video of Ryker that the pathologist wanted to show at a conference in May. So as of now we have no answers, nothing. Just that Ryker is a very special little boy which we always knew. Its just so frustrating that no one could give me any answers. All I know is what I have read online and off a few papers that the pathologist had faxed in, which are very scary. It basically said its the head and neck disease. It messes with everything, your brain, voice, face....The brain one scared me really bad, it causes severe epilepsy and mental retardation. It said that it mostly messes with their temporal lobe, which controls your emotions. Anyways, I'll let you know more when I find out more but as of right now I know nothing. Everyone I believe that everything happens for a reason, and there is a reason I was handed this. Please pray for Ryker now as you all did for Livi. I have very special kids and I wouldnt ask to change them for anything.
