[Congressional Record Volume 148, Number 128 (Thursday, October 3, 2002)]
[Extensions of Remarks]
[Page E1739]
From the Congressional Record Online through the Government Publishing Office [www.gpo.gov]


            RECOGNIZING THE DEVASTATING IMPACT OF FRAGILE X

                                 ______
                                 

                               speech of

                        HON. WILLIAM D. DELAHUNT

                            of massachusetts

                    in the house of representatives

                        Tuesday, October 1, 2002

  Mr. DELAHUNT. Mr. Speaker, A few years ago, a friend from the South 
Shore of Boston told me about his son who for years had struggled to 
overcome the deficits associated with a disease called ``Fragile X.'' 
Like most Americans, I had never heard of this disorder.
  I soon learned that Fragile X is the most common inherited cause of 
mental retardation. About one in 260 women is a carrier of the disease, 
and it affects one in 2,000 boys and one in 4,000 girls. Despite this 
high incidence rate, Fragile X is relatively unknown even within the 
medical profession. It is easily identified by a simple blood test, yet 
families often struggle for months, even years, searching for 
explanations for alarming developmental delays and behavioral problems 
associated with Fragile X. There are some common physical signs, such 
as large ears, long faces and flat feet, but half of all Fragile X 
children do not exhibit these characteristics. Other symptoms are less 
tangible, including hyperactivity, attention deficits, severe anxiety 
and violent seizures, making diagnosis difficult. As a result, it is 
estimated that over 80 percent of children with Fragile X are currently 
undiagnosed or misdiagnosed.
  It is fitting that we gather today to consider a resolution 
recognizing National Fragile X Research Day, and the urgency of the 
need for increased funding for Fragile X research. Two years ago this 
week, Congress enacted another bill I co-authored with Congressman 
Watkins, the Fragile X Research Breakthrough Act, as part of the 
Children's Health Act of 2000. This law directed an arm of the NIH to 
expand and coordinate research on Fragile X, and authorized the 
establishment of at least three Fragile X research centers.
  I am pleased to report significant progress toward implementing these 
provisions. Early this year, the Institute began accepting applications 
for the Fragile X research centers, which may be ready to open their 
doors by this spring.
  Thanks to this federal commitment, many prominent scientists have 
undertaken Fragile X research projects--rapidly accelerating progress 
and leading to new breakthroughs about its cause. In a series of 
landmark discoveries, researchers have identified the set of genes 
which are normally regulated by the Fragile X gene. Scientists are also 
now pursuing promising drug therapies for Fragile X as new evidence has 
shown that this type of defect can be blocked by relatively simple 
medications.
  These new discoveries may not only lead to treatments for Fragile X, 
but also have uncovered striking connections between Fragile X and 
other neurological and psychiatric disorders--with implications for 
autism, pervasive development disorder, Rett Syndrome, Alzheimer's, 
schizophrenia, obsessive-compulsive disorder, Tourette's Syndrome, and 
numerous other disorders.
  All this holds great promise for the development of safe and 
effective treatments, but there's a great deal more to do.
  Among the thousands of Fragile X families across the country are your 
constituents and mine. And their experiences are likely similar to 
Patricia Crouse of Chatham, Massachusetts who wrote to me about her 
grandson: ``After searching for several months and spending a small 
fortune in doctor bills, my son and daughter-in-law finally found that 
the cause of their son's development delay is Fragile X. This is 
apparently just the beginning of a lifetime of special needs he will 
have unless the researchers can discover a cure or treatment.''
  Or Blaine and Suzanne Smoller of Brewster, Massachusetts whose son 
Devin was diagnosed with Fragile X as a toddler. Devin is a bright and 
happy 12 year old--he is also easily distracted, prone to mood swings 
and hyperactivity, and has difficulty comprehending conceptual issues. 
Ensuring Devin receives the education and life skills needed to reach 
his full potential is a full time job--but because of the lack of 
understanding of Fragile X, the Smollers have also spent much of the 
last decade educating themselves, teachers, other parents, and friends 
about Devin's disorder.
  Awareness and early diagnosis is critical to effective therapy and 
treatment, and can provide emotional relief to families struggling 
through this maze of medical tests. Only with sound information can 
parents prepare for the special care and education services most 
Fragile X children will need--which averages more than $2 million over 
a lifetime. Accurate diagnosis helps not only the child and parents, 
but also siblings and extended family members who may have Fragile X, 
or who risk passing on the mutation.
  Countless parents agonize about a child who learns slowly, suffering 
from intense anxiety and temper tantrums. Do they go from doctor to 
doctor, without explanation? Do they have additional children with 
Fragile X before learning a mother is a carrier? Is a child deprived of 
treatment because she received inaccurate diagnoses? Do parents 
conclude they simply have a ``bad kid''?
  For years, Fragile X families and the FRAXA Research Foundation have 
worked hard to raise public awareness about the disease, and to 
increase funding for research. Until a cure is discovered, our goal is 
to provide families dealing with Fragile X with the most significant 
tool now available: knowledge. With a little help from Congress, these 
families will at least have a better shot at accurate diagnosis and 
access to treatment, as we also accelerate research toward overcoming 
this debilitating disease. I therefore urge my colleagues to join with 
us in supporting this resolution--which recognizes the devastating 
impact of Fragile X, calls from an increase in federal research, urges 
medical schools and other health educators to promote this research, 
and commends the goals of National Fragile X Research Day.

                          ____________________