Danielle was born a normal baby weighing 7lbs 7 oz and 20 inches long on Nov. 22nd 2002. Life was great and adjusting was going well being a first time mom. I followed all the “rules” of should do’s and shouldn’t do’s. At 4 months of age her ped noticed that her fat folds in the inside of her thighs were uneven. Off to the ped ortho we went. My very first time seeing a specialist. A quick x-ray showed no hip dysplasia. I was told to come back when she started walking for a check up. Fast forward to 12 months of age. Besides the normal colds that kids get she developed perfectly normal till this point. She wasn’t walking yet but I heard the excuses one after another that each kid is different….blah blah blah. Finally around 15 mths she started walking independently. At her 18 month check up she still wasn’t walking any better than the day she first started. She never got out of the “drunken sailor” walk. Off to the ortho again. This time was told to give it 6 months. She’ll out grow it. During this time I was starting to see that her balance was just way off. If the dog ran past her too close she’d fall down. The way she was falling didn’t seem natural. There was no break in her falls, just flat down she’d go. I didn’t wait the 6 months but waited 4. Back to the same doc I went. This time being told “not to worry, I’ll tell you when it’s time to start worrying”. That was my que and I realized our journey was just beginning. I went for a second opinion w/another ortho who told me to follow what the first one told me. His words exactly. I went for a 3rd opinoin who took me seriously but still couldn’t pin point why she was walking that way. He sent me to a ped neurologist so I figured for sure I’d finally get some answers. That doc spent a whole 10 minutes assessing her and determined that she had ataxic cerebral palsy. No explaination given. He didn’t know why but refused to go an MRI to comfirm and gave me a list of reasons why he wouldn’t do one. Huh….if only he’d known. He abruptly sent us home w/an rx for pt, leaving me hanging on where to go, who to turn to, etc. I went back to the ped and didn’t like her reaction so I found another ped to hopefully work together w/me. I should tell you that the dx of cp happened days before her 2nd birthday. I was devastated. Everyone kept telling me that depending on how much intervention and therapy she had would depend on how highly functioning she’d be as an adult. Well I can’t tell you much I worked w/her at home when we weren’t at therapy 3x weekly. The same week she was dx w/cp I also found out I was pregnant w/my son Anthony. Talk about going from the lowest of lows to the highest of highest all w/in a week. It was also decided at this time that this would be my last child because my main focus needed to be on Danielle and now how in the world am I going to do this w/2 and what if the next one has the same issues, etc. For the next 8 months or so I took Danielle religiously to therapy 3x weekly plus worked w/her at home. She was wearing AFO’s and her balance and walking got considerably better. She was actually trying to run and jump. It looked so pain to see her walk w/her knees hypertended but she did it and did it gracefully. Anthony was born the following July and what a wonderful big sister she was to him. I even took her to a wonderful chiropractor hoping we would see some kind of improvement. But we didn’t. Somewhere around Aug her therapist started to realize her speech wasn’t a bit slurry. Me being me jumped online and wanted to know why her speech would start to become slurred when just a month ago she didn’t have a problem. Well I ran across something that made my heart sink to my stomach. I called the neurologist because at this point I believe she was misdiagnosed. The following Tuesday (day after labor day) I took her back in. I brought my printout from the internet and he laughed in my face. Telling me that what I was concerned about was genetic and asked if we had anything of the sort in the family. If I only knew then what I know now his license would probably be revoked. Anyway, he told me to go home and if I wanted to be concerned about something to be concerned about the Hurrican Katrina victims. In Dec. of that year she caught the flu. She never bounced back from it. She was hesitant to get off the couch. She wanted to be carried everywhere. She was falling over more. At this time we thought maybe she was reverting back because Anthony was close to crawling. She also started hippotherapy at this time. (horse back riding) She loved it!!!! Something deep inside just couldn’t wrap my mind around cerebral palsy, it just didn’t seem right. So off to yet another ped neuro. This one actually ordered tests including a 3 hour w and wo contrast which meant that she’d have to go under general. The middle of March of 06′ I got the devatating news over the phone that he thinks she has something called metachromatic leukodystrophy and that we were going to lose her. Maybe we had 2 years left w/her. But he didn’t know where to send us, he’s sorry.
Devine intervention happened and I met a wonderful local family that was going through the exact same thing although they were about a month or so ahead in dx. They had already done the endless, tiring work of the best place they felt to take their daugther and they ever so gently took us under their wings and made the phone call to Dr. Charnas at the University of Minnesota. We went up there the first week in April and we were sadly told that she was too far progressed already for bone marrow transplant. Dr. Charnas recommended we switch peds to our current one because in his mind this was the best ped in our area. Boy, he was spot on w/that one. One week after the MRI she stopped walking. See general anth. progress this kind of disease that much further. By June of 06′ we had to place a ng tube for feeding. That was a horrific 3 months until we decided it was time for a mickey g button for feeding. Then a whole other set of issues started. Within 6 months of dx Danielle lost every ability she once had. She can no longer walk, crawl, sit up, feed herself, talk, hold things, etc. She is the capacity of a day old baby except she can smile from time to time. We were told the life expectancy would be to the age of 5, and as of today she’ll be 7 in exactly a month from today. We have been through more than I would have ever thought. I have learned way more than I thought I was capable of and because of Danielle we have a very different perspective of life than most our friends at our age do. I would gladly give up this informal education to have my beautiful princess be a happy, normal child. MLD is a very cruel disease and has the ability to take every ounce of energy out of the caregivers. Pushing forward and realizing the only control we have is over her pain and managing that. Sometimes and specifically at this point that is difficult to do. But as the Evanosky Foundation’s sayin’ goes “We Win in the End”.
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