What I want you to know when your healthy child is diagnosed with a rare disease

What I Want You to Know is a series of reader submissions. It is an attempt to allow people to tell their personal stories, in the hopes of bringing greater compassion to the unique issues each of us face. If you would like to submit a story to this series, click here.  Today’s guest post is by Anonymous.

What I want you to know is this: having a typically developing child is a blessing that many many people take for granted. I know we did. That was BEFORE. This is after, and this is our story. 

My twins were born healthy in 1998. I was grateful I suppose, but also exhausted. Having four kids under five, three in diapers, was HARD. Their early childhood was pretty uneventful. They were just kids. Noisy, messy, creative, mischievous kids. Then on a completely normal day in 2010, my sons principal called. "Sam's lips are blue," she said. "I thought it was just the picture on my computer, but it's not." So it began. 

We took 'Sam' to the doctor, who summarily dismissed our concerns. Our boy was complaining of pains in his legs, he had weird rashes on his knees and elbows and his eyelids were swollen. Something was desperately wrong with my child and he was getting sick, VERY sick, fast. The last time I visited the doctor who would not listen to me, I was carrying 11 year old Sam. His weight had dropped to a measly 60 pounds in a matter of weeks. He was too weak to walk, he sounded hoarse when speaking and he was sleeping pretty much 24/7. His blood work had all come back 'normal' except for two factors. His Rheumatoid levels were super high, and his white cell count was wonky. I didn't know what all of that meant, but I knew how to do research from college. I got on the internet and started looking at anything having to do with 'Rheumatoid' levels. On the second day of looking I found a pediatric Rheumatologist in Portland who would see him in a few weeks. After I described Sam's symptoms they moved patients around to see him quickly. He was in a cheap wheelchair, as he had stopped walking by then. The kind Rheumatologist spoke the words that would pierce my soul. "I know what's wrong with your son," she told me, "I usually take a muscle biopsy, but I don't need it with him." She told us Sam's disease was called 'Juvenile Dermatomyostitis' and that although it is considered a rare disease with 1 in 3000-5000 kids affected, it IS serious and life threatening. In a matter of minutes our normal world had careened off its axis into the unknown. 

His new doctor assured us that although Sam's disease was aggressive it was treatable. Unlike many kids with JM he would not have to be admitted right away but would be treated and followed as an outpatient. This was such a blessing for us as we lived four hours away from his specialists. What had happened to Sam, in order for him to go from an apparently healthy kiddo to chronically ill literally overnight? What we know about JM now is that it is usually triggered by an infection, aggravated by sun exposure and probably influenced by genetic factors. Sam had an infection the year before he was diagnosed, a bad one. He was outside ALL of the time on our ranch. We didn't know anyone in our families with an Auto-immune disease, but we knew it was there somewhere. Sam had all the factors to develop JM. We took the twins to Washington D.C. to participate in a Twin-Sib Discordant study at NIH. What researchers wanted to know was why did one twin get sick with an auto-immune disease, and the other didn't? Would his twin get sick? Was there an inherited weakness, a vulnerability there? As a matter of fact a little over a year after coming back from NIH Sam's twin DID get sick. He was transported to Portland by ambulance, after a reaction to an antibiotic for an infection. It looked like SJS- Stevens Johnson's Syndrome- it looked bad. After being stabilized in the PICU, he was sent over to see Sam's same doctor. Someone saw something that looked suspicious to them and called in the experts. Sam's twin 'Jake' was diagnosed with SLE. Systemic Lupus Erythematosus. His kidneys were in trouble and so he began aggressive treatment to save them. 

The shock of the two diagnoses coming just a year and a few months apart was horrendously hard on our family. We were barely hanging on going into the holidays that year. We thought it couldn't get worse-we thought wrong. Sam was due to have a routine port placement in May of the next year. He was a notoriously hard stick, the prednisone used to treat JM had ruined his veins. A port seemed like a no brainer. Easy in and out and Sam would not have to suffer every month for his infusions to get a vein. I was with him in the hospital. The port was placed, every thing seemed fine. Looking back there were a few clues, that something was up. but I didn't know what I was seeing. That night after the port was placed, Sam complained of numbing and pain in a lower leg, after the port was flushed. I didn't think much of it, until the attending called me at 4:15 the next morning, and asked me if it was normal for Sam to lean to his right, normal for him to slur his words? I was shouting "NO! NO! Somethings wrong!" Throwing on my clothes, running through the halls of the Ronald McDonald House, where I was staying, running, running, up the parking lot to the hospital where my son was. Security met me at the door. In minutes I was on the school age floor looking at my son, Sam, who was trying to talk to me with completely slurred speech, unable to stand. "He's had a stroke!" I snapped at the people standing around. "For God sake people, move!" They were simply unprepared for something of this magnitude. This was the school aged floor, not the PICU. Which is exactly where we headed pushing Sam's bed down the yellow brick road to the unknown land of OZ. 

Sam HAD in fact suffered a stroke, and the reasoning of it soon came to light. The physician placing Sam's port-a-cath had in fact placed it it the carotid artery, not the subclavian. Sam's numbness and tingling in his legs had been a neurological symptom that the port was placed incorrectly. I knew, of course having worked in a nursing home for the better part of a decade, that Sam would not be 'all fine again', once the port was removed. I think my husband thought we could perhaps reverse some of the damage done to Sam, but he soon saw differently. When Sam awoke in the PICU, he was a changed boy. Not able to speak, completely paralyzed on his right side, he was terrified, as anyone would be. For my part, I was simply furious, and would stay that way, for a long, long time. My incredibly smart, straight-A student, the outgoing, omnipotent, adventurous, intrepid child, was gone. In his place was a child operating at the level of a toddler. He had to relearn every self care skill he'd had. Like most people with a head injury, he was very short-tempered and tired very easily. He couldn't be left alone for a second and required 24 hour a day supervision. Once he learned to walk again, he was into everything, much like a toddler would be. He would require two YEARS of bi-weekly speech therapy to get most of his speech back, though he still struggles. 

What I want you to to know is that you cannot EVER take your healthy child for granted. Whatever you do, don't look away for a second. We were so unaware of the many issues that we live with now. We have a wheelchair sitting at our table that costs more than our cars. We had to pay a whole lot of money to fix our split level 1.5 story one room schoolhouse, into an all one level, handicapped accessible house. My spouse has aged ten years in the last four. One of the hardest things for us and Sam to deal with is that, three years after the stroke he continues to have 'spells' where he just randomly passes out. He can be doing any old thing, and wham, there he goes. No-one has been able to diagnose it, we know the stroke caused it, we don't know if it will ever be fixed. It doesn't help when people make mean comments or thoughtless comments to Sam. He can't change how he is now. Don't you think he would if he could? Yes, he uses a wheelchair sometimes. No he's actually NOT playing with the handicapped cart at the store! Thank you so much, random members of the public for telling me I should not let my child use those carts! So helpful...What I want you to know, is that my kids ARE special. It's not because of their laundry list of diagnoses. They are uniquely challenged boys, who are going to take the world by storm. Just you wait and see. What I know now, is that if your kid calls you from whatever you are doing, to see their latest stunt, bug, trick, that the dog can bite his own butt...you'd better go see. Next time may never come.

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