It's been a while since my last log and a lot has happened since then...Where oh where to start?
We went to Cincinnati Children's Hospital and met with the Infamous Dr. Brenda Wong, who is not only super duper intelligent but her bedside manner is wonderful! I knew from the moment we entered the front door of CCH that we made the right decision to fly across the US! Nicholas had several test including a DEXA scan and bone density test. Which showed he was at 3 1/2 years, one year behind. Dr. Wong was very impressed with Nicholas walk test and feels he has a mild phenotype of Duchenne of which looked to be Becker's, yet his deletions proved otherwise. She still advised us that it cannot predict his progression, but to continue with our supplements and she added a few more to our list. We also chose to start him on Deflazacort of which he is tolerating very well, a little pricey but worth his sanity Vs. prednisone.
Nicholas Behavior was noted to be typical of a Duchenne boy and he did show anxiety, over-stimulation, and lots of sensory overload (lots of need for pressure IE: hugs, tip toe walk). Serial casting was talked about and we are in the process of getting that pre-authorized at Stanford LPCH.
We then met with Dr. John Day who so happen to take over the open position of MDA Neurologist at Stanford. I am very happy with Stanford's choice to bring him here, he is very supportive and educated in Duchenne. We are feeling very blessed to have him right here and only an hour away! He will now manage all of Nicholas care.
Christmas seemed to be right around the corner and we were excited that PPMD would have a F.A.C.E.S group for NorCal. This was a big step for CA! We have been so limited in care, support, and now we were getting a whole new package! So exciting!
Nicholas had an appointment with Dr. Nancy Yaun in Pulmonology(whom is another great MDA Dr.), we received a call asking to re-schedule his appointment so we could meet with Dr. Bu and Dr. Yaun. I had then asked what the results were for Nicholas' sleep study, they "forgot" to call me and THANK GOD I remembered to ask! His results showed Moderate Sleep Apnea and wanted to remove his tonsils and a few other test while he was under IV. Needless to say his surgery went well, he was not happy after. But is healing well and just had his follow up sleep study so we hope it's now clear of Apnea...
Unfortunatly right before Christmas both Nicholas and Bella got a very bad virus with vomiting. Everyone seemed to be doing better, then on christmas morning Nicholas had his very first Seizure! It was so very scarey! He woke up and asked to take a bath before we left to go see family. He vomited and while in the bath he seemed very spaced out, he acted as if he was going to pass out. He got out of the tub, walked into the living room, picked up a lego and his eyes rolled back! his hand went into a fist and then started shaking. after a minute he dropped to the floor and passed out! We jumped in the car to the ER at Stanford as I don't trust our local hospital with my dog. I called every doctor he had at stanford and as soon as we walked in they took us straight back into a room, passed all the people waiting in the ER waiting room and an ER Doctor was waiting for us. Nicholas was very dehydrated and took a whole bag of saline. He was starting to "wake up" from the seizure when we go into the room. He looked at the nurse and said" OH NO it's christmas at the hospital!" The nurses eyes got teary and told him that she was sorry but they had a present for him! She came back with Lightning McQueen and Matter cars. We finally got to go home after blood work and fluid. Nicholas slept for 2 days straight. The one thing that made me sad was that we spent Christmas alone, no one came by, no christmas Dinner and I was a wreck while my son slept off the affects of his seizure and virus.
Yesterday and today I have been on the phone, exchanging emails just to get Nicholas evaluated for Serial casting and the behavioral team to monitor his prozac. It seems to not be clear to anyone what the protocol for a Duchenne boy is, but it is clear what he needs. So far there are no protocols at the local service providers we go to, so we have had to go back up to Stanford and request referrals again. It's been a little stressful and overwhelming to explain to each person on the phone "why" he needs what he needs and "What" his diagnosis is. I find it so upsetting that these "professionals" don't know what Duchenne is and constantly repeat back to me "So he has MS?", it's a little frustrating...
To top the day, I found out a little girl that goes to Nicholas' school had passed away this past weekend. My instant reaction was to cry, even though I did not know the child my heart was broke. To think that your child could be gone in an instant is not a thought I want to think, but it's our reality. The fact that Nicholas has Duchenne already steals time from us. His life weighs on my mind everyday, every hour of every minute. I do realize Children with Duchenne are living to be young men, but they also don't have other genetic disorders that doctors have NO idea how they will affect one another like Nicholas. It weighs heavy on my heart. Some days I don't want to go to bed, it means one more day gone. Other days its a great memory made that I will never forget.
