- CASE FILE
My 20 year old daughter has been losing her ability to walk. Thought it was MS at first however that was ruled out after many tests.
ABOUT THIS CASE FILE
About two years ago, I noticed my 18 year old daughter walking a bit differently, mainly hyperextending at the knees and then fell out of nowhere one day. I took her to an orthopedic physician however upon his neurological examination and xrays of her knees, he referred her to a neurologist. She had Babinski sign and clonus along with hyperreflexia.
We go a local neurologist who orders an MRI of the brain and is having concerns for possible MS, however, he did say my daughter’s symptoms were bilateral which to him would be unusual in MS. So she has the MRI and then I got a call stating it did, in fact, look like MS (based on the radiologist’s interpretation) and he then sent her for a lumbar puncture. We go back to the neurologist to get the results only for him to say that the lumbar puncture was normal and he has more serious concerns about the possibly of some type of leukodystrophy because there was one area of slight concern on her brain MRI. She then has a nerve conduction study and an EEG, both of which were normal.
I then went to seek out another evaluation at Duke University, one of the premier hospitals in our state. We go to the appointment and I wasn’t overly impressed with the visit however, this neurologist didn’t feel that my daughter’s MRI was abnormal at all, more of a “normal variant” he called it. He wanted her to see neurologist that specialized in movement disorders. He also did other labs that were all deemed normal. I was able to get her in to see a movement disorder specialist at Wake Forest sooner than I could at Duke and basically the possibilities are adult onset Alexander Disease, Hereditary Spastic Paraplegia, or spinocerebellar ataxia. We are just now beginning to start some genetic testing.
There is no history of anything like this on either side of her family. My daughter always had difficulties in school growing up. She did have a history of seizures as a baby, up until about 4 years of age. She also had amblyopia or a “lazy eye” which she had to wear patches for—so she does have a history of neurological issues. She now has severe balance issues, cannot walk up or down stairs without holding on to hand rails, has difficulty getting up to her feet. We did get her some knee braces but I can’t seem to tell that it helps much. She is going through her third round of physical therapy which does seem to help somewhat. She does have muscle spasms/cramps. Her feet to seem to swell at times and turn a bluish color when she stands for a while. If she walks for extended periods of time, her legs hurt—likely do the hyperextension. Also, in between all this, she was diagnosed with narcolepsy, with her going into REM after only 90 seconds—the sleep doctor said it was one of the most severe cases of narcolepsy he’d ever seen. He feels that the narcolepsy is secondary to the neurological issue she has going on. She does not have any speech issues, no bladder issues, no change in cognitive abilities.
It’s frustrating not having answers and seeing her lose her ability to be active. Two years ago, she was jogging and able to do cartwheels in the yard, now even getting up out of a chair is a challenge.
It is felt my another neurologist she saw that it is likely hereditary spastic paraplegia (HSP). We did genetic testing and that was negative, however I am told that not all the genes that cause HSP have been identified. So we are now being sent to the Mayo Clinic for further evaluation/second opinion.