Almost twelve months after we sent Laurens 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 might have a condition known as Aicardi-Goutieres Syndrome. It took another five months but eventually
tests were done to try to confirm this diagnosis. The test 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 Laurens 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 Laurens 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
dont 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 Laurens 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.
On Sunday the 20th of December, 1998 our worst fears were realised. Lauren developed pneumonia. It seemed so sudden,
one minute she was well the next minute she was desperately ill. We were devastated when our doctor advised us that we may
need to decide whether to ventilate Lauren if her condition worsened. Little did we know that this was the beginning of a
long series of hospitalisations for aspiration pneumonia and respiratory infection. Some of these were to result in
Laurens admission to the Intensive Care Unit of the Childrens Hospital. There were times when we thought we would lose her
but she has proven to be a real battler. In June, 2000 Lauren was transferred to the Childrens Hospital. Her condition worsened
during the next week and she was admitted into Intensive Care. While there for twelve days it was shown that she was refluxing
her stomach contents. We immediately decided to have a Fundoplication operation , hoping that this would stop these recurring
aspiration pneumonias. The procedure was performed laparoscopically.
As fate would have it in August, 2001 we met a consulting naturopath at our local pharmacy. This was the first time we
had discussed Laurens problems with an alternative type of health professional. We had nothing to lose and a lot to gain if
we could help Lauren with a fresh approach using complementary preventative herbal medicines and supplements. Herbal preparations
were formulated to try and improve Laurens immune system in order to make her less susceptible to respiratory and urinary
infections. Other dietary supplements were recommended to enhance her nervous system and digestive system. Over the next ten
months we monitored and modified these alternative medications. During this period Lauren developed a couple of colds where
she was able to cope without being hospitalised and we actually experienced a six month period without a hospital admission.
This was the longest period in over three years without being in hospital. She still develops urinary tract infections but
these are probably less frequent than they were in the past and are most likely caused by the catheters. The use of complementary
medications in conjunction with the more traditional drugs appears to have produced very positive results and we are optimistic
that Lauren will benefit greatly with this approach.
In September, 2001 while Lauren was in hospital we made contact via Email with Dr. Marjo van der Knaap in Amsterdam
asking if she would review Laurens scans and medical records in order to provide a diagnosis. Dr. van der Knaap specialises
in undiagnosed white matter disorders. She proved to be a delightful person to deal with and was very receptive to our request.
Within a relatively short period of time she had reviewed Laurens medical history and returned her findings. She was unable
to provide a diagnosis but stated that all testing that was possible at this time had been done and that it may simply be
a matter of time before medical science is able to provide the answers.
