Peyton's Pals

it like it was yesterday. I almost passed out, that poor ultrasound tech. His results were NORMAL. Thank the Lord I can relax and enjoy my baby....maybe. When Peyton was around 2-4months old we started to notice he wasn't rolling over or doing much of anything like Kamryn(his sister) had been at that age. I voiced my concerns at the pediatricians office and they seemed to just brush it off. The nurse had mentioned to me that his head was growing but not as much as they would like. She assured me they would keep a close eye on it. He was still on the growth chart so not to worry at this time. ha telling me not to worry is like trying to baptize a cat. not gonna happen, duh. Around the same time we are noticing more and more of a delay in him, I unintentionally heard a big fat heart murmur on Kamryn. NO ONE and I mean NO ONE told me about this. She wanted to play with my stethoscope so I was just showing it to her and that's how I heard it. We had never had it checked out bc we didn't know. Hell hath no fury like a pissed off mom. That was the last straw for me and that drs office. We changed pediatricians. Kamryn saw a cardiologist and all was normal. Dr. Jill Newsome. The start of help and answers for Peyton. The moment I met her I felt like she was a Godsend. She listened to my concerns and took them serious. I trusted her and felt whatever she thought we should do we would do. She understood my "mom worries" more than anyone. We now had a plan. His head wasn't growing so she sent us to neurology. He has had a skull xray and an MRI. All were within normal limits. Dr. Miller noted "microcephaly" in his progress notes. I was unaware he has a diagnosis until I requested his medical records. Its devastating to not know why or whats going to happen to your child. As he gets older we start to find more and more issues. He failed a vision scan at the pediatricians office. He got glasses and it was like he could see for the first time ever. I will never forget the look on his face when he saw the trees walking out of that drs office. We struggled to get him to talk, eat, or drink. He refused solid foods and sippy cups. I thought he was tongue tied and I had mentioned this more times than I could count at the old peds office. Jean Brandon. The speech therapist we were referred to. Talk about a Godsend. She is amazing. Buddy will do whatever for Ms.Jean. Little by little we got him drinking and eating. We are still working on eating of course but he is making huge strides. Speech is going to be a forever thing I feel like. Who in the world can get a word in living with me and Kamryn anyways? I feel like he doesn't feel like he needs to talk when so many people will do it for him. ha. Did I mention he is the laziest person on the planet yet? In between all of the drs appointments we have seen an ENT. He got his tongue clipped and skin tags removed. Of course on top of everything else he loves ear infections too. grr. The same dr who did the 1st surgery would also be the one who put tubes in his ears. Between all the ear infections and fluid behind his ears we thought maybe he isn't speaking bc he cant hear anything. The NIGHT before his 2nd surgery he was running with a sippy cup in his mouth. He fell right on it. We couldn't tell if his teeth had gone through his top lip or it was always that way. The dr was nice enough to fix that while he was doing the tubes. SIX..SIX freakin stitches in his upper lip to fix that bad boy..poor Buddy. We started to see improvement with his speech. He has been in speech, occupational, physical therapy, and he has an early intervention teacher that comes to the house weekly. He graduated from physical and occupational therapy but is going back bc we had a little lapse and he started to back track on us. I felt like we needed a second opinion.Hopefully someone had seen another patient just like Peyton. We went to Vanderbilt. We saw neurology which we saw once and I feel like was a waste of time. No answers there. Dr. Alice Lawrence: a developmental md, neurologist, physical and occupational therapist, and who knows what else she has under her belt. I felt like we hit the JACKPOT on this one. She reviewed his MRI with me and showed me what she thought could be an issue. She follows Peyton very closely. Dr. Lawrence is the Dr. Jill of Vanderbilt to us. When we had a recent set back she ordered more therapy and some orthopedic equipment. Peyton has shoe inserts and a compression suit. We call it his Superman suit. It helps him maintain control of his body. It is a $2000 something suit that you have to wrestle him to get on. Its totally worth it bc you can see a major difference in his movement with it on. We see Dr. Lawrence about every 4-6 months. Recently, she herself returned a call to me about a question I had. That spoke volumes about what kind of doctor and how much she cares about her patients to me. We also got a second opinion on genetics at Vandy. Dr. Phillips and Vicky. They did the usual genetics thing. Family tree chart and looked him over from head to toe...literally. They scrutinized every piece of my ,at that time, 19 month old sweet baby boy. Talk about judgmental, holy crap. That was a rough drs appointment for us. Dr. Phillips couldn't pinpoint what was wrong by just looking at him. He ordered lab work, which would come back normal. The last thing we could do was whole genome sequence testing. This is a newer genetic testing were they look at every strand of DNA. Not just his but mine and Brandons as well. We thought about this as we waited the insurance approval. I got the call from Vicki that it was approved. We did it. It took 6 months to get the results back. I was driving and we were on our way to the beach when she called. She said I have the results, can you come to Vanderbilt in two days? umm not really. I told her I was headed the opposite direction and if she didn't tell me the results right now I may have a freakin anxiety attack on the interstate. She said: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE. or MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY (MFDDM) A mutation in the EFTUD2 gene. That was it. Thats all she could tell me. I have NEVER heard of this. Its a very rare genetic syndrome. Leave it to my kid to pick the rarest of rare mutations. There is no know prognosis bc those diagnosed are children. He said we wont know anything until those diagnosed get older. We got an answer but not all of the answers. We will treat the symptoms he has as we have been. We can't FIX him. The only thing we can do is give him all the love we have. Sometimes "normal" is boring. Rare is beautiful. I'd say one in sixty something people is rare. :) We will continue to treat him as a regular kid that just has to go to therapy a few times a week. Peyton's problems:

microcephaly
far sighted
gross motor delay (he has no idea how his body works or moves in space)
speech delay
eating difficulties
sacral dimple
bilateral skin tags on ears (removed)
tongue tied(clipped)
hypotonia