Moments - Celebrating 2 years

Two years ago today, February 28^th, we walked into Phoenix Children’s Hospital with our little boy, bags in hand and family and friends by our side. I would say we were scared to death, but honestly it was more somewhere between feeling a peace and numbness.  Here we were about to send our seemingly healthy child in to a major hours long surgery not knowing how he would come out on the other side. But there was something inside him that was slowly deteriorating his neurological system and it was a miracle they found it when they did.

Just 6 weeks before we walked into that hospital, at 10a on a Monday morning 1/14/13 we received a phone call that changed our lives forever. The “routine” MRI our 5 year old had the Friday before had revealed a brain malformation in his cerebral region. The MRI was only due to his Autism – they were looking for frontal lobe brain lesions. Six days within the MRI we were sitting in a neurosurgeons office discussing risks and treatments.

As we went through the motions of diagnosis and treatment emotions were everywhere. Within 6 weeks we went from “routine” MRI to sending our child into major brain surgery. He was just months away from being paralyzed had we not done something so there really wasn’t a choice. Those 6 weeks from diagnosis to surgery are a total blur. It was a scary and stressful time. But through it all God gave us times of peace, He sent us support, and most of all: He gave us moments. Moments that are crystal clear in my mind that I will always remember.

I will never forget that phone call. I will never forget the conversation with my parents after I drove to their house from work shaking and in shock after that phone call (they were only 5 minutes away). I will never forget the surgeon telling us sternly we could not wait until summer or he could be paralyzed.  I will never forget God sending us a song on the radio the day we scheduled the surgery. I will never forget the first time my son ate again. I will never forget the first time my son walked again.

He still has lasting effects, and we still have future risks that we will need to watch out for the rest of his life – but we are in a really good place right now. Looking back at pictures it is hard to believe how we even got through it all. All of these moments feel like yesterday. I am so thankful for these moments because they shaped who we are today. But more than the moments, I am thankful for the people God brought to us in our time of need.

I will never forget our church surrounding us in prayer 3 different times the week of surgery. I will never forget the first person to give me a hug our last Sunday before surgery was a mom who was going through a cancer battle with her teenage son – and she wanted to be by my side through my son’s struggle. I will never forget the family and friends who met us at the hospital in support. I will never forget the cards, and gifts, and meals that were sent in support of our family and our son.

I will never forget any of you. I wish I would have, I wish I could have written thank you notes to each and every one of you. There isn’t a week that has gone by in these two years that I haven’t had many of you in my heart and thanked God for you.

How has this shaped who we are today? We no longer take the day to day for granted. Every smile, every footstep, and even every “teachable moment” is something to be thankful for.  Every person, every gesture, and every word that is spoken we acknowledge as a gift. It is easy to get caught up in life and forget that life is made up of many moments. Moments in time that, if you allow it…if you slow down enough to just Be Still and pay attention…those moments can change you. The smallest moments can take your breath away and make life worth living.

Interested in reading more about this story? Check out the Chiari Kid page which has documented the last 2 years. Thank you.

Dan's diagnosis

Dan went to a neurologist in October 2013 for a nerve test for arm pain from his previous injury. After a rare abnormal reading on his EMG, he walked out that day with more questions than answers.

(Fast Forward to Summer 2014)
We needed answers and we felt that this neurologist had taken it as far as he could/would. We did some research. We found a group of conditions that suddenly explained so many things in Dan’s life that he didn’t know were not “normal”. It was eye opening. We found a support group online to get more information and advised that Dan’s neurologist didn’t seem to have a lot of knowledge with his issues. We were advised by an advocate to go straight to the MDA. Muscular Dystrophy Association. ((Our Heart Sank)). MDA? It is easy to let your fears get you.

We keep a book of business cards for all of the specialists that me and the boys have. I joke every time they get a new referral that one of the kids is adding another specialist to the repertoire (haha – gotta laugh right?). Never did I imagine that Dan, our healthy one would be adding to our book of providers.

September 2014 - Dan had an appointment set with MDA for October. In the meantime we had to take our youngest J.R. to a PCH neurologist because they were concerned he was showing signs of a neuromuscular disease himself (are the pieces finally coming together?). That appointment was so surreal. After a few minute of brief history, Dr. Bernes, a pediatric neurologist (who we now know is the MDA specialist for PCH) looked at Dan and told him just by looking at him what he thought Dan had (we later found out he was right)! Although Muscular Dystrophy was ruled out for J.R. – we left the appt with no new answers for him.

After 2 MDA appts for Dan (October 2014 and Jan 2015) and another genetic test, Dan has a confirmed diagnosis. He has a very rare genetic neuromuscular disorder called Myotonia Congenita.

Myotonia congenita is a rare genetic disorder in which an abnormality of voluntary (skeletal) muscle fiber membranes causes an unusually exaggerated response to stimulation (hyperexcitability). Abnormal repeated electrical signals occur in the muscles. As a result, affected individuals have difficulty relaxing certain muscles after contracting them (myotonia), muscle stiffness (rigidity), and associated symptoms.

He experiences the following:

·         Can’t stand for long periods of time

·         Cannot walk long distances

·         Repetitive motion cause muscles to lock/freeze up

·         Frequent choking, gagging, or trouble swallowing

·         Constant stiffness and soreness

·         Chest tightness

·         (Paradoxical Myotonia) Gets worse with movement

His condition brings the following risks:

·         Long-term (chronic) joint problems – due to muscles pulling on joints

·         Prone to tendon damage (ruptures) due to muscle malfunction

·         Aspiration pneumonia caused by swallowing difficulties

·         Possible death with general anesthesia (“Malignant Hyperthermia”)

·         Risk of significant injuries (A simple fall can be life threatening if his muscles lock and he can’t catch himself and hits his head).

·         Risk of muscle lock up in emergency situations (startling him or any adrenaline response causes muscles to lock)

·         Stress, anxiety and cold temperatures aggravate symptoms

There are 2 different forms, Dan has “Thomsen”. This is a dominant form of the disorder and our boys have a 50/50 chance of having it. If so, this will add more complications to what they already deal with.

It really is a rare disorder that still does not have a ton of research. There is a medication that may lessen Dan’s stiffness, but no guarantee it will work. The medication seems to only work on certain individuals but they don’t know why. If he is able to gain benefits from this medication and he takes it long term they will have to monitor his heart with periodic EKG testing.

We were so grateful to hear that the disease itself should not shorten Dan’s life.  It should also not progress to the point he is in a wheelchair. But there are complications that could lead to more difficult mobility if we are not careful and mindful of the risks.

Dan is at the point that he walks with a cane and cannot shop without a motorized cart. He also has to take frequent rests in his daily activities to relieve the pain, stiffness, and burning in his muscles. Sometimes you just have to shove pride aside and do what works to keep going. The medication is on order and Dan will most likely start it sometime this week or next.

We are relieved to have an answer. If there is one thing we have learned in the last 5 years it is that when it comes to your health, knowledge is power. Thank God for science and modern medicine.