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Mar 9, 2018
Thanks so much for visiting Elise's site. We are truly blessed to have the support and prayers of so many wonderful friends and family.
Dewy & Jen
Elise has always been a bit delayed in reaching her milestones (rolling over, sitting up, crawling, walking - she walked at 18.5 months). We didn't think too much of it because she was still in the range, just at the lower end of what is considered 'typical' for children of the same age.
In August of 2007, Elise had persistent flu-like symptoms and increased poor balance. We took her to the pediatrician on a couple of occasions, where she was tested for Lyme Disease (because of a suspicious bite she got on her ankle the month prior) and x-rays of her abdomen were taken (showed an enlarged spleen - but this wasn't a concern since she was sick and probably fighting an infection). On a subsequent visit to the pediatrician, Elise was referred to the hospital for a CT scan of her brain because of her balance issues (CT came back normal).
Due to Elise’s on-going balance issues, we followed up with an Ear, Nose, Throat (ENT) doctor. He didn't find any fluid in her ears and her hearing was fine.
In early September, Elise had an episode where she suddenly fell backwards and hit her head on the floor. When we picked her up, she wasn’t responsive at first (eyes were open, but was out of it). Within a couple of minutes she was somewhat responsive, however, only one side of her face would move when she tried to smile or talk. Likewise, only one arm would move. Within ten minutes she seemed to regain control of both sides of her body.
A couple weeks later (mid-September), Elise had a seizure (followed by another seizure two hours later) and was admitted to the hospital where further testing was conducted (CT scan, MRI, EEG, blood tests, urine tests, x-rays, ultrasound of the abdomen). Most tests came back normal, except her spleen was enlarged and her blood wasn’t 100% “normal.” Again, doctors said that she was probably fighting an infection. Additionally, Elise was tested again for Lyme and it came back negative. Two weeks later (early October) the pediatrician checked her spleen and found it to be smaller in size. Whew...good sign.
Elise continued to have balance issues and her developmental progress seemed to be at a standstill. We had Elise evaluated through the Minneapolis ECSE program and she qualified for services (physical therapy for gross motor skills, a SE teacher to aid in her cognitive development and a small amount of occupational therapy).
At Elise's 2-year old doctor visit (mid/late October), we discussed our concerns with her pediatrician. Her doctor suggested that we may also want to have her evaluated by a developmental pediatrician. So, in mid/late December Elise saw a developmental pediatrician. Elise spent time with a speech therapist during the visit and eventually began weekly speech therapy at Children's in February. During the visit with the developmental pediatrician, he noted her large spleen and blood was taken because of it. The blood wasn't 100% 'normal' – again, perhaps she was fighting an infection. The doctor suggested that we follow-up with Elise's pediatrician in early January to have her spleen checked.
In early January, Elise was seen by her pediatrician. At that time, her spleen was still enlarged and he referred us to a hematologist at the U of MN. The hematologist found abnormalities in her blood (could be anything from an infection to a 'storage disease'). Ultimately, the hematologist referred Elise to Genetics doctor and a neurologist at the U of MN to test for storage diseases. For the past 4-5 months, Elise has been tested for a variety of storage diseases. Elise has had a variety of tests (blood, urine, x-rays, MRI, nerve conduction study, bone marrow biopsy, skin biopsy, muscle biopsy, liver biopsy) Many storage diseases have been ruled out. However, her MRI revealed patchy white spots on her white matter. The liver biopsy revealed lysosomes and inclusions. As a result, further testing was conducted at Mayo and a lab in Maryland.