Rare Disease Day

Today is Rare Disease Day.

I read something today on a blog… it was a question asking what we would like someone to know about our rare disease. I find this a very hard question and almost impossible to answer. What could I want you to know when it’s still impossible for me to know everything I would like? What WOULD I want you to know about the rare disease MLD? It’s simple yet could never be understood…. MLD is life changing and that is the only way to put it.

Ella is getting older and wiser… she knows what’s coming now and it’s not always good. The day of her MRI they decided to give her a mask of laughing gas to put her to sleep then put the pic line in to save her from some extra pain. Although this sounded good, it proved otherwise. Ella fought me the whole way down to MRI and when we got there she continued her fight. As I sat down with her on the gurney while the doctors were waiting she was flailing and kicking me to the point I could barely hold her down. She ripped my earings out of my ears and could not control her fear or anger. I had to place my body across her and look away while they put the mask over her face. As she continued to scream until the gas set in, I layed on her lap sobbing almost uncontrollably. She finally fell asleep and I ran as quickly as I could for fresh air; wishing I could keep running away from it all! I hate you MLD. This is rare disease.

By Thursday last week the kids had two tests remaining … We walked down to the cardiologist and Ella hopped up on the table . She had to take off her shirt to get her exam and as she did I was taken back by her precious little body. The first thing I noticed was a bruise on her spine from her lumbar puncture… then I saw the (lead) sticker marks on her chest from her last EKG and EEG, both hands had bruises on them from the blood-work and  gall bladder MRI (where she needed contrast and she had another bruise by her hip from her bone marrow aspiration. Wow! My baby girl … looking like a human pin cushion and the sad thing is this has become so normal and accepted for them/us. This is rare disease.

Eli’s walking is getting worse . Some days it is like watching a train accident occurring in very slow motion. You watch and you know it’s so hard to see what’s happening but you can do NOTHING about it. Imagine that for one second … watching your child lose abilities in slow motion… watching them drag their foot or feet more and more… you can see the marks on their shoe that were never there before as proof that things are not the same but slowly changing. Thankfully the doctors in Italy are trying to figure out if we can do anything for Eli and his legs,  so they suggested a nerve conduction test. Just a few shocks 2-5  or as many as he could stand to help us get some answers. The doctors said it would be up to Eli so I pulled him aside to explain to him what they wanted to do. Eli said “ok mom I will do it”. We met the doctors down stairs and as they put the leads on him my heart started beating faster. My precious Eli is allowing them to shock him to see if he has any conduction in his nerves in his foot or leg. I layed across his body and told him exactly what they were doing. A moment later the first shock… he jumped and after a moment the doctor asked him if we could continue… he said yes. They went down his leg a bit and shocked him again. This one was a bit worse but after a brief rest he said they could go on. After the third or fourth shock he was crying very hard so he decided that would be the last one. Fortunately they got the information that they needed and Eli  would soon move on to a Yahtzee game with Mom-mom; seemingly forgetting about what just happened. Me on the other hand; it’s almost impossible to ever forget. This is rare disease.

They don’t have a “normal” life anymore… Boston and Milan aren’t even questioned …their bodies are violated with needles and testing and you can’t save them. You can’t even really explain it to them because YOU don’t even understand. You can’t explain why Eli can’t run anymore or why he can’t shoot the ball like His friends or why he will never play basketball like his brothers. You can’t explain why he can’t ride his bike or button his pants pr why EVERYTHING in life is just so much harder for him!! You can’t explain why Ella doesn’t want to play sports because she is not “good like her friends” or why she can’t roller skate or dance anymore…. why her numbers and letters are backwards. You can’t explain why she gets so frustrated every time her foot trips over the other one and why her hip hurts. You can’t explain why you want them to never ever give up because they don’t even see that as a possibility. They are fighters and they just keep going. All these things can’t be explained to them because they could never understand. I don’t even understand… except for the fact the MLD has slowly robbed them of things that I would give anything to get back… even for a day.


This is rare disease.
Life changing ….That is all that really needs to be known. Having a rare disease will change your life. 


~ by Rebecca on February 28, 2017.

2 Responses to “Rare Disease Day”

  1. God bless you and your family and Eli and Ella. I can’t even imagine what you are going through. Having raised a disabled child I know first hand some feelings of not being able to take your children’s pain away. But seeing the pain that two of your children has to indore has to be heart wrenching. Knowing that you would rather go through this then have your kids go though it. I am amazed at your faith. I pray everyday that I can share your faith. I will definitely keep you all in my prayers…my heart aches you you all.

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