Connecting the Dots

Josh was taken back for his head MRI but first the nurse told Christian and I to give him a quick kiss. That's when my stomach fell. I was worried about the risks of course, but that's also the moment I realized something very serious could be wrong with my little baby and we may find out from this MRI. We got home that afternoon and Josh was still exhausted from the anesthesia. I had a voicemail from his neurologist just a couple hours after getting home and she said they had the results and there was an abnormality so I should call them when I was able. I wanted to call her immediately but at the moment the results weren't all I was worried about. Josh wouldn't take his bottle. They had told us eating could be harder for him because his throat may be sore after the MRI but to not eat anything seemed wrong. So the next day we decided to call his pediatrician as soon as we could. So as we would getting ready I called the neurologist. She wasn't in the office but she had left a note for the nurse to read to me. She told me Josh has Pelizaeus-Merzbacher Disease. This nurse gave me a reliable website to get more information until the neurologist could call me.

Quickly I got my laptop opened up the website and had Christian join me. As I was reading I felt more and more hollow. It truly was my biggest nightmare becoming reality. I don't want this whole post to be describing PMD so I will leave a website at the bottom and I'd love to answer anyone's questions if you have any. I will say PMD is a genetic disorder and affects the central nervous system. We read on the first website that some PMD patients aren't able to walk, talk, or eat on their own. Slowly I would read a couple sentences then read it aloud to Christian. Then slowly and slowly my light crying turned to sobbing. Christian asked me what I was reading and I didn't know how to say the words that life expectancy could be shortened by a little or even a lot. Then Josh woke up from his nap and I knew it was time to leave and take him to the ER but it was so hard to move. I knew my heart would shatter the moment I saw my son. Sure enough it did and my head got all fussy but gladly my body just kept going and going and pushing me to do the next thing that needed done. 

At the ER they gave him fluids to keep him hydrated and after his throat had rested he was just fine. This was the first time that when doctors asked about Josh I had to let them know of the new diagnosis. Although I knew very little I still knew more than most the doctors if not all that we saw. Simply because PMD is so rare none of them knew what it was. While we were there one resident on Josh's developmental team got an "attitude" with me. She didn't understand why he was so underweight because with the feeding schedule he was on he should have been a normal chubby baby. This resident bent down and talked to me as if I had no clue what I was doing and as if I wasn't taking care of Josh. In that moment I decided I wouldn't let anyone speak to me like that whether it's a doctor, my parents, my in-laws, or friends. The people that know me well or have spoken to me about whats been going on with Josh medically know that I am fully on top of it. I am on top of his feeding schedule and all of his appointments, I'm on top of his therapy and knowing as much as I possibly can about his condition. So that day I learned what kind of mother I wanted to be for Josh, I would have to be strong and I will be his rock.

Josh later got blood work done to confirm the diagnosis of PMD and to determine how severe it is. He also ended up getting a swallow study and it revealed Josh aspirates. Meaning his food was going into his lungs and nasal cavity. We were told he would need a feeding tube and we had the choice to get him an NG tube, a tube through the nose, or a G tube, a tube in his stomach. We figured the NG tube would be best so he could gain some weight before getting the surgery for the G tube. The day after the swallow test we had to go up to Shriners Hospital to meet the spine doctor. We were very busy! After meeting Josh the doctor decided we needed to wait four months until he could decide on the best treatment for Josh's scoliosis. He wanted to see Josh develop more and get the blood test back. So we went back home and rested for the night then went back to Riley the next day so he could get the NG tube. Like I said it was just one thing after another. The NG tube ruined Josh! He had the NG tube for a month and only smiled twice. Christian and I had to replace the NG tube once a week and the tape always made his cheeks raw. Josh was also overly sensitive that whole month. Even more than he usually is. I was either holding him or he was asleep in bed. 

Then finally the blood work came in and we were able to meet with the genetic couselor. She was starting to tell me about PMD but as I said before I had done my research and known just about everything she was trying to tell me. I was then informed Josh has connatal type of PMD which is the most severe. The first couple days I wasn't too upset about the blood test results but then it started weighing heavy on my heart. I remembered everything that first website had told me about PMD and I became extremely scared for the life that my son will have. For months I was terrified of the future so much that I had nightmares and anxiety attacks. Gladly things started looking better for Josh. We had an appointment with Josh's developmental pediatrician and he told me Josh was so underweight he was malnourished. He admitted Josh into the hospital and was monitoring him and we worked on finding a feeding schedule that helped Josh. We were in the hospital for a week! By the end of the week he was able to get the G tube. Since then our lives have changed so much. I think Josh progresses every week. He has been gaining weight and is able to do more in therapy. Such as, role from side to side with minimal help and lift his head in tummy time for a couple seconds. He is also babbling more and smiling often. Finally our schedule isn't filled with doctor appointments or surprise runs to the ER. He has gotten splints for his wrists and ankles and we are waiting on a helmet and a back brace from Shriners as well. Things aren't what I expected in the least but I love it more and more as we go along. 

Thank you for reading! I'm so glad I could catch you up on some major stuff that has happened in the past year. This is much more so don't forget to read my upcoming posts.  https://rarediseases.org/rare-diseases/pelizaeus-merzbacher-disease/ this a link to a website about PMD. If you have any questions about this disease or how its effected Josh I'd love to answer them for you.