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Another twelve months went by and we made an appointment for a second opinion from another geneticist. We again cited all the changes that had taken place and questioned why DNA studies had not been done and that we were disappointed with the lack of active investigation and the poor follow up after previous consultations. Having read Lauren’s medical files, examining her and consulting with the original geneticist, her written report stated that Lauren may possibly have a particular form of PMD namely the “connatal form” but it was not possible to confirm this as genetic testing was not yet available.
We seemed to have hit a brick wall. We have been frustrated by the lack of
research investigation into Lauren’s condition and the contadictory reports we
were receiving. We decided to send Lauren’s medical history, MRI’s and CT scans
to the United Leukodystrophy Foundation in the States for review in their Second
Opinion Program. This was in June 1998. Around the same time we arranged a
second opinion consultation with another neurologist. He was not able to provide
a diagnosis but stated that Lauren could fit into the connatal form of PMD, but
it would be difficult to make this diagnosis with current genetic
Almost twelve months after we sent Lauren’s medical history to the ULF in the States, we finally received their review. They immediately dismissed PMD as a possible diagnosis due to the presence of the calcification in her basal ganglia. They then suggested Lauren may have a condition known as Aicardi-Goutieres Syndrome. In order to confirm this, tests needed to be done to measure CFS and serum levels of lymphocytes and alpha interferon. These tests were eventually done but again the results proved to be negative, so still no diagnosis. It was also suggested that Lauren may have a mitochondrial disorder, but again subsequent tests including a muscle biopsy in June, 2000 have ruled this out.
After trying to have a Nuclear Magnetic Resonance Spectroscopy for at least two years, one was eventually performed in conjunction with a brain MRI scan in May, 2000. The MRI showed a significant change in Lauren’s brain. The cerebellum and brain stem had diminished in size. These changes were significant and immediately prompted our neurologist to arrange for tests to be done to determine if these changes were linked to other recognised disorders. Serem tests were done and ruled out any Glycoprotein Deficient Syndrome. A skin biopsy was performed after she showed a poor response to an Electroretinogram (ERG) This also proved negative and ruled out Neuronal Ceroid Lipofuscinosis (NCL) as a possible diagnosis. These changes in the structure of her brain may account for Lauren’s deterioration over the last couple of years.
The NMR Spectroscopy has continued to elude us. The test performed in May,
2000 was not able to be analysed due to some problem with incompatible computer
hardware and software. Twelve months later another NMR Spectroscopy was ordered.
We still don’t know the exact results of the test. We were informed that the
myelin that was present in the brain actually appears normal and it was
suggested that the damage to Lauren’s brain may be due to a trauma like a
stroke. We would like more clarification of these findings. Fortunately the
brain MRI done in conjunction with the MRS showed no changes in the appearance
of the brain between May, 2000 and June, 2001.
Lauren’s poor muscle tone and small size have warranted the need for special, customized seating to provide posture support and transport. Her muscle spasms have caused spinal curvatures. A kyphosis and very noticeable scoliosis exist and are being monitored by an orthopedic surgeon. The curvature could worsen if unattended and compromise her respiratory system, making breathing difficult. A customized stroller funded by PADP was found to be unsatisfactory, but fortunately we were able to get funding for a much better imported stroller which provides excellent support and comfort for Lauren.