I opened my blog for the first time in months. I was surprised to see that the title said, "Obstacles but not Barriers." Huh. How about that. That's would be a fitting title for this blog as well. So we'll leave it.
I have kept in touch with you all via the occasional email, mostly about Brian. I know you haven't seen pictures of the boys in several months, so I included some family photos at minimum. But mostly this blog is not for pictures. I have a story to share.
It's the story of our amazing Cole.
Cole has been a charismatic kid from day one. I can’t even pinpoint just one reason. Is it the sparkling blue eyes? The tousled blonde hair? The adorable smile? The infectious laugh? The quirky expressions? The way he interacts? The sweet hugs and exaggerated "mwah" kisses?! All of it is perfection. He has a way of making people stop and really look at him, and SMILE. He has an aura about him that we all get caught up in. I don't know what he has...but he just “has it.”
He's so incredibly smart too. He's constantly problem-solving, watching, observing, experimenting, and copying. I like watching his expressions as his little mind works. And work, it does.
Cole is so smart, he's aware that his legs don't work the way he needs them. So he just gets around it. He uses his hands to move his legs when necessary, plus he crawls, cruises, kneels, bear crawls, rolls, and basically does whatever he needs to get the job done. It doesn't bother him. He works hard just to play but generally doesn’t complain.
I believe Cole was gifted all these attributes because of the obstacles, but not barriers, that he will encounter in life.
To catch you up a bit, we started pursuing medical help early this spring after Cole turned 18 months and was still not able to walk. He has been seen by several doctors and child neurologists, and receives formal therapy in our home once a week. We acquired a “Crocodile” gait trainer which he uses daily to practice walking. He had an MRI on his spine in June, which came back negative. The next step from there was an Electromyography Test (EMG) to measure how his nerves send and receive signals. Cole and I headed up to Virginia on Thursday night for his test on Friday. Mom and Dad stayed with Caden, who was sick with the flu at the time. Thank goodness they were here. I’m 30 years old, but I readily admit that I still need my Mommy and Daddy.
So, now that brings us to today. Deep breath…
Cole has been tentatively diagnosed with Spinal Muscular Atrophy. Genetic testing in the next few months will likely confirm this. The testing will also show how severe it is, based on his gene makeup. There’s also a small chance this testing could show up negative.
I know you already have a lot of questions. So do I! I'm up late right now reading. I crave to know more, about what it is, where it came from, and how to treat it. I started this process long ago and actually predicted this exact diagnosis back in June, after the MRI. Of course, I wish I had been wrong. But at that time, I needed to be informed and prepared for whatever came our way. I’m glad I started the process then or the diagnosis might have been even more difficult to take than it already was.
So here’s the basic run-down…Spinal Muscular Atrophy (SMA) is the loss of motor neurons in the spinal cord, and it affects voluntary muscle movement. So, in Cole's case, his legs are very weak, because the nerves just aren't able to send the signals to the muscles to make them move like they should. Sensory is not affected, so he feels us tickle his feet and says "ow" if he scrapes his knees. However, his tendon reflexes are almost nonexistent and he simply cannot move his legs easily. His muscles in his legs also feel very soft, almost like jello. They are atrophied. He has a very awkward gate when he walks and tires and falls frequently from the standing position. He cannot stand unassisted. All these symptoms are a part of the disorder.
However, Cole has NOT exhibited some other symptoms that they often expect. He met all his other motor development milestones on time. His dexterity is impressive, and his arms are strong as an ox. I cannot even do presses, but he does them constantly, daily, to get up stairs, or pull himself up onto chairs. It's astounding! He also does not have any respiratory or breathing problems, and eats like a champ. The doctors did not find any nerve tremors on his tongue, or on his arms. He's never had trouble with his head flopping. His weight gain is normal…well “Geraghty” normal anyway. Tall and wiry.
Given these circumstances, it is hard to discern what level Cole fits. Obviously he is absolutely NOT Level 1, which is the worst possibility. That leaves Level 2 or 3. I personally feel he seems to fit more into 3, which is also called Kugelberg-Welander Disease, and this would be our best option, with the best prognosis. The thing is, these levels are all blurred, because every child, every case, is different. So actually, the definitions can be rather irrelevant. But we still like to be informed as best we can about what we could encounter in the future.
How did he get it? Well, it's a GENETIC disorder. Both Brian and I are carriers, because we inherited it or there was a genetic mutation. One in 40 people are carriers, so chances are, a few of you reading this are also carriers and you don’t even know it. When two carriers have children, the child has a 25% chance of having the disorder, and this occurs about once in every 6,000 births. Caden might be a carrier, and could subsequently pass it on to his children. Unfortunately, our Colebug inherited the disorder.
What is treatment? There is no cure, yet. But there is a lot of amazing research going on, specifically with “fixing” the gene itself. The affected gene is SMN-1 on the number five chromosome. Therefore, they know exactly where the problem is, and they are persistently working to find a way to cure it. There are a few drugs out there that can help if his muscles become hardened, but hopefully with therapy, we can avoid that. And that is the BEST medicine for SMA…lots of therapy. We are also going to acquire some braces for his feet and ankles to help stabilize him and make it easier for him to walk.
So, now what? According to the recorded cases and the "odds," there is a possibility he will never walk. He might need a wheelchair. Even if he does attain walking, it often diminishes in adulthood. According to research, the disorder will likely progress and get worse.
Well, pardon my language, but to h*ll with that. Our new goal in life is to make him the anomaly. We don’t particularly care what the percentages show, or what the standard prognosis is. Our goals remain the same, to help Cole walk. Whatever happens, we will never refer to it as a disability. He's just our sweet boy, and we will help him accomplish whatever he wants. From what I’ve read, his life-span should not be affected and many individuals with SMA have heightened intelligence and lead full, successful lives, with families and careers. The doctors were encouraged that he does so well with his gait trainer. They said, work him. They were not concerned with muscle injury…they said that I can work him as much as he will allow. So, work, we will.
Speaking of, these doctors were top of the line. Cole was seen by three different child neurologists at the Children’s Hospital of the King’s Daughters in Norfolk, VA, including Dr. Ralph Northam, who conducted the EMG test, Dr. Ingrid Loma-Miller, and Dr. Matthew Frank. I felt at home as soon as I walked in the door and they treated us like family. The doctors were so caring, and so incredibly smart. They spent a lot of time with us, testing and checking every possible avenue to make sure they were coming to the right diagnosis. I think Dr. Frank could have written the book on SMA. He was THAT sharp. We will see Dr. Loma again in 4 months. It’s well worth the 4-hour drive. And Tricare actually reimbursed us for our travel expenses, which was wonderful.
How are we doing? Well, the day I found out, I cried. A LOT. I cried because I don't want my son to have any more obstacles in life than he has to. I cried because I want to take this burden from him. I cried because I feel guilt. I cried for all the other children that suffer from their own disorders and diseases. I cried because I wonder why...and I feel like it's not fair.
But now, we accept, we move forward, and we help our little trooper get better. And we don't look back. This is what Brian said in his first email after we heard. "A day of being upset and a lifetime of happiness with Cole. You are right and we will never treat it as a disability and will work hard with him to accomplish whatever he wants to do in life."
Caden did not quite understand what I meant when I told him. He wanted me to hug him though, so he knew, in some form. With time, he will fully grasp the implications, and I think he will be Cole’s number one protector and advocate.
How is Cole? GREAT. In his eyes, life’s problems include needing whatever toy Caden has at any given second, retaining control of the driver's seat of the John Deere Gator, and missing his Daddy. Other than that, he’s happy as can be.
Now, how can YOU help, you ask?! Please continue to pray for Cole and that he can become stronger. Please pray for a cure. And please pray for Brian too. He was the ultimate optimist and champion for Cole from the start, so this diagnosis hit him hard. He did not see it coming. His team mates have been incredibly supportive and his commanding officers have assured him they will help him with whatever he needs. The bottom line is he wishes he was here. He said he wanted so badly to just hug Cole and play with him. I feel helpless here...I cannot even fathom how I would feel 6,000 miles away.
Thank you again for all your prayers and support. Our friends and family are the main reason we not only survive these obstacles, we thrive. We are very blessed.
Now, go research SMA. Your homework is to FIND A CURE.
