In this part I will put Tadan's disease as simply as I can so everyone can better understand what it is doing to him. Giving the name and medical definition would give people a headache unless of course you work in the medical field. Trust me when I first started my research I got headaches alot trying to understand not only the disease but the fact that something like this exists. CACH (Childhood Ataxia with diffuse Central Nervous System Hypomyelination) which is also called Vanishing White Matter Leukodystrophy is just one of 38 types of leukodystrophies and there are still more that have no name. CACH got its name in 2001 when a doctor by the name of Prof. M.S. van der Knaap found the five genes(elF2B) and their mutation were the cause of the disease. I will not get into genetics cause that could take all day :) CACH is inherited in an autosomal recessive manner, meaning it can run in the family. The mutation of the genes also comes from both parents. Thus I have a mutation and Tadan's father has a mutation, which neither one of us knew about and it was a 25% chance of passing our mutations on together to a child at the time of conception. RARE disease to say the least. Anyway these genes are necessary to properly make proteins in the body-(this was taken from vwmfoundation.org-eIF2B is a factor that is essential in the production of all proteins in the body. DNA is transcribed into RNA; RNA is translated into proteins. eIF2B plays an essential role in the initiation of translation of all proteins. It is also important in the regulation of protein synthesis), in CACH, changes in these genes cause a reduced function of the genes job. Tadan was about 2 when small noticable symptoms started. (His trouble with bowels at a younger age didn't get noticed until once he was diagnosed, we now know the disease attacked that first.) He was clumsy and held his right hand up, clenched fist, when trying to run. He never did get that full run. He fell often and then started to drag his right foot-the disease hit his right side first. Well, to say that he climbed the ladder of developmental stages, yes, but only got up to walk then right back down the ladder he came, losing the abilites backwards from getting them. He regressed back to crawling, then just sitting up, right hand went first then left, now he can barely hold his head up and relies on me for everything. The only abilities he hasn't lost is his speaking and eating by mouth, but some may say that his speech is gone cause not many can understand him anymore because it has become more difficult for him to express his speech properly. Even myself can have days where its hard to figure out what he is saying and I'm with him everyday, but I'm thankful that he can still express himself that way, for there will come a day that will stop as well.
When trying to explain how this disease works its best to compare it to a computer-as the doctor says. The grey part of your brain is like the main drive of a computer and the white matter of your brain is all the wires that run from the brain to your body or computer to the screen. As the white matter disappears those signals become interrupted or delayed. As more disappears its like open wires firing off without anywhere to go and live wire touching. Imagine your computer wires without the covering touching each other as you try to get online or send something to the printer, sparks would fly, right? Can you even possibly imagine what is going on inside Tadan's brain as it tries to send signals with no where to go. That's where the doctors came up with his "storms". Its the part of the day that after sending so many signals his brain just can't handle sending anymore and he has these episodes where he cries, screams and just doesn't know what he wants because his brain can't function properly. And through these storms I know Tadan is in there because every now and then he looks at me and says I don't know I don't know, he is telling me he doesn't know why this happening and he can't control it. Its absolutely heart wrenching to know he is in there, trapped at what his brain will not allow. The disease will slowly start to stop the signals to major organs. It has already started to affect his brain stem, we know this because he has spikes in fevers with no infections, the body's thermostat is in the brain stem. The brain stem sends and controls a lot of how we live. I have copied a definition so I didn't have to type all this ( In vertebrate anatomy the brainstem (or brain stem) is the posterior part of the brain, adjoining and structurally continuous with the spinal cord. The brain stem provides the main motor and sensory innervation to the face and neck via the cranial nerves. Though small, this is an extremely important part of the brain as the nerve connections of the motor and sensory systems from the main part of the brain to the rest of the body pass through the brain stem. This includes the corticospinal tract (motor), the posterior column-medial lemniscus pathway (fine touch, vibration sensation and proprioception) and the spinothalamic tract (pain, temperature, itch and crude touch). The brain stem also plays an important role in the regulation of cardiac and respiratory function. It also regulates the central nervous system, and is pivotal in maintaining consciousness and regulating the sleep cycle. ) So after reading all that how do you feel? It scares the hell out of me and I live it everyday. Actually I don't live it everyday, Tadan does, I just care for him, give him what he needs and make him as comfortable as I possible can. He lives in pain and we can't even begin to understand how much because he thinks its normal. He takes four scheduled medicines throughout the day and has five other medicines that I can give as needed for his "storms" or more intense pain. He has muscle spasms, neuropathic pain(which is like fire), tone we can't control-meaning his feet are tight, his ankles do not bend, his knees can barely bend anymore, his mid-section has begun to become harder and harder to bend-, the muscles in his throat don't get the signals to swallow properly-he has thickener for liquids and solids have started to become more difficult and must be small and soft- his jerks and motions are seizure like but I think the meds control those and he has been on Miralax since 20 months old to make sure he has bowel movements without struggle. He has begun to bite his fingers involuntary and he speaks out of character, like random thoughts being sent through his mouth when he doesn't want them too. I do not know what life will be like once this disease starts to shut down major organs but I do know that Tadan will handle it with the grace he has today. He could have cardiac arrest, get a fever or have a seizure that puts him in a coma or he could pass in his sleep. I just want peace and love to be with him whatever Death chooses because Tadan deserves nothing less. He has fought this disease with such courage and an attitude of not giving up that I have never seen in the strongest grown human being. He is a gift, a blessing, friend, teacher, nephew, grandchild, brother and son that has come to this earth to show so many what life is truely about. So much love for Tadan Charles Foss!
