and Hopeful Story: Potential Treatment for Rett
by Kathy Hunter, International Rett Syndrome Association
(IRSA), September 18, 2003
For more articles like this
Caroline, now age six, began having seizures when she was just
two days old. As she grew older, the seizures persisted, and by
the time she was 5, Caroline had lost all of her hand function,
with her hands held tightly at her chest. She had ataxia and her
breathing was abnormal. She had never walked or talked. While
she had some of the symptoms of Rett, doctors at Baylor College
of Medicine were reluctant to diagnose it because her MRIs had
deteriorated significantly, which is not seen in Rett.
Furthermore, Caroline did not have a causative MECP2 mutation.
They performed a spinal tap and sent the spinal fluid to Baylor
Institute for Metabolic Disease, the only laboratory in the
country which tests cerebral spinal fluid for rare metabolic
disorders. The test concluded that Caroline had low levels of a
form of folate in her spinal fluid, a condition presently known
to occur in only a few others. The lower levels of a form of
folate in the spinal fluid disrupts many processes and can lead
to seizures and the inability to transmit messages through the
http://www.com/healthnews/folic_acid.html provides a good
overview of the value of folic acid in a variety of conditions.
Caroline immediately began taking folinic acid, a highly
purified prescription drug. Within three days, she was laughing.
In another couple of days, she had regained the use of one hand.
Within three weeks, she was walking on her own. Four months
later, she is babbling.
How does this relate to Rett syndrome and your child?
We all know that children without MECP2 mutations are diagnosed
with Rett syndrome based upon their clinical presentation. But
we further know that Rett syndrome presents a broad clinical
picture, and, in some instances, children may be diagnosed with
Rett syndrome because their presentation “fits” within the
clinical spectrum of this disorder more than any other. The
story of Caroline raises the question of whether at least some
of the 20% of patients diagnosed as having Rett syndrome without
an observable MECP2 mutation may, in fact be suffering from a
deficiency in the active form of folic acid, folinic acid (tetrahydrofolic
acid), or some other form of folate. And, based upon the study
described in a recent IRSAlert (Reduced folate transport to the
CNS in female Rett patients; Neurology. 2003 Aug
26;61(4):506-15), it seems reasonable to question the role of
this neurotransmitter in patients with identified MECP2
mutations as well.
The Blue Bird Circle Rett Center at Baylor College of Medicine
is starting a multi-phase study investigating spinal fluid
abnormalities in girls with Rett syndrome, both with and without
MECP2 mutations. The first part of the study has recently
received Internal Review Board (IRB) approval and will begin
shortly. This first part will analyze the spinal fluid from
approximately 50 girls with Rett syndrome to look for
abnormalities previously reported in a small sample of girls
with Rett syndrome (see above.). The goal of this phase of the
study is to determine if the reported abnormalities are common
in girls with Rett syndrome or represent a rare condition. If
treatable spinal fluid abnormalities are discovered in study
patients, appropriate medical therapy will be prescribed.
If consistent spinal fluid abnormalities are discovered in
enough girls, the second phase of the clinical study will be
pursued. This phase will involve providing medical therapy and
monitoring the clinical status of study patients. The protocol
for this phase of the study will be submitted shortly to the
Baylor College of Medicine IRB for approval.
IRSA will provide a questionnaire on our website for parents who
wish to participate in this or other studies that may emerge
from this promising research lead. In addition to asking the
usual contact questions, the questionnaire will collect
parameters such as age of onset of regression, current motor
status, mutation, and current seizure status in order to provide
researchers at Baylor and elsewhere with important access to a
wide variety of subject backgrounds which may be important as
different discoveries come to light. Additional information will
follow in the next few days (hurricane permitting) and we hope
to have the questionnaire available by Monday, September, 22.
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