Kindergarten 2012

Well its now November 1st and we have completed our annual IEP. Nicholas started Kindergarten this year and it was so bittersweet for me. He is academically growing and so interested in learning. He has won super reader awards for 2 months in a row now and he just keeps going. The year started off a little bumpy as the school did not fully understand when I said he does not transition well, yet seeks for structure. It has taken 3 months for the "school" to adjust to him.

His behavior issues that were being reported were valid, yet not addressed by the school and I was growing more concerned. I had this feeling since Nicholas was very young that his over stimulation and  need for structure was so much more than just being a very clean and "exact" child. I addressed my concerns with his Neurologist and psychologist once more due to his disruption at school increasing and he didn't seem like the happy kid we knew so well over the summer break. I had waited for an appropriate referral for an assessment from the Autism clinic at Stanford, then our Doctors called them and got us right in. He showed he was a very high functioning child yet on the spectrum of Autism. This was not really a surprise to me, but yet another knife in my heart. We now are dealing with Duchenne, B-Thalassemia, Gilbert's syndrome, OCD, Autism Spectrum and ADHD, Not to mention his Asthma and odd outbreaks of random rashes. Surprisingly we are hanging in there!

He started another medication in hopes to allow him to have quality of life, Tenex. Its other name is guacafine and we were told it was a 50/50 chance it may or may not work. His psychologist was in hopes that it would at least allow him to sleep as he has been waking up frequently at night or not going to sleep at all. Which can put a real damper on daily life. So far so good! Transitions have been smoother and he is sleeping better, a few night terrors though.

We are now starting PRT at Stanford with a very down to earth understanding Doctor who "gets him"! Although these issues are so hard to deal with, I feel blessed. I feel blessed that he is oblivious to other children who make fun of him, because he really doesn't care. I feel blessed to know so many doctors/scientist on a personal level who specialize in his disorders. These are things that many don't see or have. I am hopeful that one day I can just simply focus on my child for who he is and not always his medical health. One day at a time and one step after another.

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CIRM Stem Cell Research Updates: Patient advocates speak in support of disease team...: Huntington's disease advocates speaking to the Governing Board Yesterday’s governing board meeting should have been a happy one. The age...

Begining of Summer 2012

It's June and Summer has begun! Nicholas official last day of Pre-School was last Thursday and It was a little sad for me. He will be in summer school starting this week, but its only an hour of "play" a day. He will officially start Kindergarten in August! YIKES how time fly's!

We kicked our summer off with a mini camping trip to Lake Nacimento. We met my dear Friend Sparra and her little family of 3 on Saturday and my Aunt & Uncle brought the boat down. The weather started off very windy but by the end of the weekend it was in the 100's without a breeze in sight.

My children were so excited to be on my uncles boat. They both look forward to every trip to the lake and this year my uncle let them drive. Nicholas loved spending time with my Aunt and Uncle on the boat he had a smile from ear to ear.

These little trips to the lake are very meaningful to our family as we never know when it will be our last trip as a family. I always find myself inspecting all the dock's as we speed past them or checking out the pontoon boats to see if there is a safe ramp or easy access. Even a few steps or stairs could mean we would have to miss a trip to avoid having to carry our 47lb child up and down or holding him to avoid a huge tumble (Nicholas had an accident the day before leaving on our trip just by simply rolling off the couch onto his face. He doesn't have the speed to place his hands in front of his face to break falls).

Summer time brings a lot of excitement to my whole family because of the lake, beach and water sports. I hope that we can have many more trips before Duchenne grabs a hold of him. Memories are so important and maybe just as important as Independence.

One of those Days

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.