I wanted to post this email that was sent out to family members last night to update you on Cannon. The brown is written by Kent and the blue part I have added as little details I don't want to forget.
As many of you know this past year has been challenging for Natalie and I. We are so thankful for the support from all of our family and friends. We know that Cannon has been in your prayers, placed on multiple temple prayer rolls and been fasted for by many. We are so thankful for you and for your thoughtfulness.
I don’t know how much everyone knows so I thought I would tell Cannon’s story from the beginning and let you know where we are today.
Cannon
Pregnancy
Everything was normal for us until ten weeks when Natalie began bleeding heavily. We were devastated knowing that just three months prior Natalie had bled the same way resulting in a miscarriage.
We rushed Natalie to the hospital and did an ultrasound. Luckily Cannon had not only survived but was kicking and moving normally. We were so relieved. However, the doctors noticed a large blood clot developing. Our perinatologist later said it was the largest blood clot he had seen and he gave Cannon 50% odds of surviving. Soon after we got more bad news when a large “nuchal fold” developed on Cannon’s neck. Nuchal folds (swelling under the neck) almost always indicate a problem such as Downs Syndrome.
Natalie and I made the decision to do an amniocentesis to verify Downs Syndrome. As you can imagine it was a tough two weeks waiting for the results. We researched everything we could about nuchal folds and the more we read the more we felt that the odds of Downs was actually low despite what the doctors were telling us.
We got a call early one morning saying that not only were the chromosomes perfect but it was for sure a boy. However we still had the blood clot to worry about. We worried because Cannon may not make full term due to possible growth restrictions or abruption of the placenta, but once again Cannon beat the odds and was born without a single problem.
He was perfect in every way. He looked just like Ethan and we were so excited to show him to Ethan and Ella. They had a birthday party for him that next day. Ella had made him a cake but she didn’t like that there wasn’t any candles to blow out. Life was good.
Early Months
Around one month of age I started to see differences in Cannon that I didn’t see in Ethan and Ella. He was quieter, slept more and overall had less expression. Other than that he was a normal child only with extra fat rolls and chubby cheeks. [Laura] made mention of his loose skin and Natalie googled what it could be. She came up with an incredibly rare skin disorder (cutis laxa) that seemed to fit. We asked our doctor but she didn’t think much of it.
Cannon continued to develop normally by smiling and laughing. However subtle signs began. We at one time thought he possibly may be deaf (our concerns began for this after he did not pass his first hearing screening at the hospital. We had to wait 10 days to do a follow up test. In those 10 days, we noticed Cannon did not respond to loud noises. At Ethan's basketball games, Cannon slept right through the loud buzzer, the whistles and the cheering without budging. We downloaded phone applications of dog whistles that we held to his ears without response. We also popped balloon after balloon near him while he was sleeping and it never woke him up. 10 days went by, they tested him again and he passed), blind (when we would talk to Cannon, he would look in our direction but always up, as if he was looking at something over our heads or at our ears, we know this is can be typical with newborns, but as he continued to develop, it didn't improve), autistic (this suspicion didn't last long because he was very attached to mommy right away and smiled often) or may have cerebral palsy (as we began the searching phase, the placental bleed, the swelling on the neck and the hypotonia led us to believe he may have suffered brain damage during the pregnancy). We weren’t for sure so we decided to see a neurologist. We were told that we would be on a nine month waiting list to see a neurologist. Natalie wasn’t going to let that happen (after a "chance" meeting of a wonderful woman at the Sunnyside Pool, I was determined to be the voice for my son. This woman I met was a mother of a child with special needs. She was also a Family Resource Coordinator to help people know what to do for their child. I told her we were waiting to see a specialist in Seattle and I told her about our waiting period. She gave me the name for two Neurologists in Seattle, gave me her card and told me to tell my local Doctor that she had referred me. I called my Dr., and within days I had a phone call from Seattle with an appointment for the following week. "Chance encounter"? I think not) and she got on the phone and within a week we were seen at Seattle Children's Hospital.
Soon we had appointments in almost every department at Children's. We did neurology (MRI- mostly normal- not much concern), heart (strong enough for surgery), vision (muscles lazy but no problems on the optic nerve), hearing (passed complete hearing tests of all tones), anesthesia (going over all rules and regulations to prepare for sedation), surgery (checking his circulation and lungs for overall health before performing the scheduled - and now cancelled- muscle biopsy) and genetics (abnormal lab results from blood work). Few answers came as all tests came back normal. With so few answers we were sent to a biochemical geneticist for even more extensive labs.
We met with the geneticist and he told us that Cannon may have rare problems such as Prader Willi Syndrome (a disease where the brain never tells your body that you are full, so a child always feels hungry) or a mitochondrial disease (the powerhouse of the cell isn't functioning properly to create energy). He sent out blood work to test for these diseases all taking 4-6 weeks to come back. Waiting is tough not knowing how to help your child but this was not the first time we had to wait for answers. Six weeks later we got another “normal” result on very detailed chromosomal tests.
Frustration grew and I knew that what we were looking for wasn’t going to be easy to understand. I began studying and researching in science journals and science based studies. Our doctors believed it was a mitochondrial disease so that’s where I started. Cannon had symptoms that were close to some of the mitochondrial diseases but none of them matched close enough. My daily routine had become work till five and research the rest of the night.
Nothing much was found for months. Then last week I was researching at home and came across this article on Menkes Disease. A rare disease that causes copper deficiency. Menkes Disease has symptoms of profound hypotonia, sparse scalp hair, loose skin, seizures, chubby cheeks, visual tracking reduced all due to a lack of copper that mimicks a mitochondrial disease. Menkes is a disease of copper transport from the gut to the blood. Copper is needed in minute amounts but can have devastating problems if it is low or absent. Just a sidenote, Menkes Disease has a sister disease…. Cutis Laxa, the disease Natalie found much earlier.
I called Seattle Childrens and didn’t get a good response when I probed for answers about Menkes. The doctors thought it wasn’t right because of his lack of seizures. We were still sure and did a blood draw here at our local hospital (We are so thankful for our friend, Dr. Derek Weaver. He believed Kent and sent in the labs to be done so we could know what we are facing) and sent it off for verification of Menkes. Menkes can be verified in the blood by low Copper and low Ceruloplasmin (a protein transport of copper).
Yesterday the results were in and both Copper and Ceruloplasmin were drastically low. With that we are 99% sure (Seattle Children's saw the lab results and agrees with Kent and sent out a full work up to confirm, results will be back in 4-6 weeks) Cannon has a neurodegenerative disorder that will shorten his life considerably. In an instant we went from being lost for answers to knowing the terrible outcome of the disease. Most kids will not survive past 2-3 years old (on average kids die around 1 year and 8 months. Cannon has not had seizures which is almost always the case of someone his age with this disease, so we are praying Cannon is writing his own story).
As you can imagine it is a tough diagnosis to handle. We don’t understand why tragedies occur. You just have faith and hope that one day families can be reunited. I feel heartbroken having to explain to Ethan and Ella what Cannon has and maybe what the outcome may be. I don’t know when or how that will be done.
Is there a cure? Because the body needs copper from the beginning of life, the only possible cure they have found is giving injectable copper in the first few weeks of life. Researchers have found that if the copper is given in the first 6-8 weeks the result is much more positive. If the copper treatment is given after the 8 week window the treatment is not effective. Cannon is 7 months old but we will try everything we can. Cannon has beaten the odds so many times, I hope he can once again.
We have been given good advice to not second guess or say “what if” with the situation. We believe that and we are so thankful that we have Cannon. He is such a blessing to our family. He will always give you the cutest smile when you play with him and we are so grateful that he is our son.
We love each of you and thank you for your support.
Kent and Natalie
