Stryder, my 5 year old son, has a connective tissue disorder, complex partial with intractable epilepsy, and Landuau-Kleffner syndrome (aphasia). All of these have other conditions that come with them.
Stryder is starting to show more and more problems with processing what others say and it’s scary. When people talk to him, he will look blankly as if he doesn’t hear them or understand and often you can see the wheels working. Take for example when a Dr asks him “Do you know your name and birth-date?” Nothing! Then the Dr will say “What is your name” and he will answer. Then, “What is your birthday” and he will answer. It is heartbreaking watching him not respond, not knowing if he understands or if he just needs more time to respond; how much time do you give? We are trying a new technique that I hope will work, showing him queues to ask if he is lost. Please be patient with him if you see him, give him time and understand he is not ignoring you, he is not being a typical shy child. Stryder only needs you to re-word what you are asking and be clear with your questions, but don’t treat him as if he is “stupid”.
Stryder’s joints are becoming so loose that you can take your finger and move his knee cap completely out and the same goes with his shoulders. Often, this doesn’t hurt, but what does hurt are the surrounding muscles that have to stretch out of their normal range, causing the same kind of pain that comes from working out. He is often looked at as “pigeon toed” but he is not at all. The strange walk comes from his ankles and hips being so loose, they just “flop” with each step. The hardest part is that he is getting more and more awkward and close friends are remarking, telling their friends: “See, look how his legs wobble, even in his braces”. I, as his mom, see this and hope others do not, but unfortunately it’s becoming more and more clear to others that something is just not right.
Because Stryder’s collagen is bad, his heart and other internal organs are affected. Right now he has an enlarged aortic root dilation. What this means is that he could have an aneurysm and also it can burst if not caught in time. Fortunately, Stryder has a great pediatric cardiologist that is watching him closely and he has echo-cardiograms every 6 months. He has only had one and his next is in September and we will pray that his it has not dilated more because if it is, we will have to decide on doing heart surgery. He is on medication to help stop the growth, but we just don’t know if it has helped or how long it will help in the future. We also need to do scans for other possible aneurysms soon. For me, Mom, the hardest part is knowing his heart is affected by his defective collagen.
We have spent the last couple of years with a diagnosis of Ehlers-Danlos Syndrome only to recently find out that the doctors don’t believe it to be EDS because children this young do not have these symptoms and also because EDS does not present this way: joints becoming so loose as if he is losing all of his collagen, dilation where it is and the size it is, seizures, etc. Some have asked us why still search for the actual diagnosis and it’s something I think about all the time, but for us, there are a few reasons.
First, each diagnosis takes a different treatment plan. With EDS, dilations in the body do not reach a certain size and are in certain places. But with Loey-Dietz, you must have surgery at a smaller size because ruptures are imminent and death occurs. With EDS body scans are unnecessary, but with LDS it is mandatory. I am not saying he has LDS, although that’s what the Dr’s are now saying, but it shows just how different treatments are with two syndromes that present in a lot of the same ways. The average life span of someone with LDS is 26 but with treatment it can be higher. (There is also another condition several Doctors -Dr. Francomano, GMBC, Dr. Dietz, John Hopkins, and Dr. Tsai, Doernbecher Childrens- believe he has which is fatal in boys at a young age. We are waiting for those test results.)
Second, when we have a confirmed diagnosis, there is more likelihood of finding a cure or even treatment. We are looking more closely at some other illnesses that involve the heart more than just connective tissue because it is more rare to see this in young children.
Third, we will have a better plan of treatment and also a road map to what may or may not occur as he gets older. Because he was diagnosed with EDS, we assumed that certain things would happen, but what we are finding is that things are happening that shouldn’t. We were also told at the EDS conference that an echo-cardiogram is not necessary until the age of ten because they just do not happen in EDS before then and they do not grow over a certain size; Stryder’s size is already above that number by quite a bit. Not to mention his seizures really throw everyone for a loop.
Fourth, I believe in prayer, and know that God has his hand on our family. God has answered so many prayers already and because of everything that has happened to Stryder, we have met some wonderful people that we otherwise would not have met. Things could be so much worse and I will not worry about any of it anymore. I will let God handle my worry. I will just tread forward, trying to find out what exactly Stryder has so we can treat it and let God guide me in the direction I need to go. I will listen to only him and no one else on what we should and should not do. I will trust that I will not be lead astray.
I know that others are going through so much worse, but I know that this is what’s real for us. It’s hard not knowing what may or may not happen or when he will not be able to walk, or even talk. We see him getting worse, slowly, every week, and yet we don’t know if it will ever stop or just keep going down hill, SLOWLY. For us, we can’t just say “He has______” and people just get it. It’s complicated and not even I understand it. I do know that he could have internal bleeding at any moment and it is life threatening and I know that my job is to make sure that never happens so that Stryder can keep on touching people with his kindness and teaching people with his love. Just because people don’t look sick, doesn’t mean they aren’t and just because people don’t have “______” doesn’t mean they don’t suffer the same.