Gorovitz & Borten, P.C.
Attorneys at Law

550 Cochituate Road, Suite 25
Framingam, Massachusetts
Tel: (781) 890-9095
Cystic Fibrosis
Cystic fibrosis is the most common lethal inherited disease in white persons. It is
caused by defects in the gene cystic fibrosis transmembrane conductance regulator
(CFTR) that create abnormalities in the regulation of chloride transport across
epithelial cells and mucosal surfaces. It affects the mucus glands in multiple organ
systems, in particular the respiratory system.  In patients with cystic fibrosis, the body
produces mucus that is abnormally thick and sticky in the respiratory tract,
gastrointestinal tract, pancreas and sweat glands that makes these secretions
difficult to be cleared. The mucus obstructs the glands and airways resulting in
chronic respiratory infections. End stage lung disease is the principal cause of death.

Cystic fibrosis is caused by a mutation on chromosome 7 that encodes the cystic
fibrosis transmembrane conductance regulator (CFTR) protein. The CFTR contains
a highly charged central regulatory domain that allows it to regulate the activity of
chloride and sodium channels. Cystic fibrosis transmembrane conductance regulator
(CFTR) mutations have been classified into five categories of abnormalities. The
presentation of the disease is probably related to the underlying genetic abnormality.

In the United States, cystic fibrosis occurs approximately 1 case per 3300 in whites
compared with 1 in 15,000 in African Americans and 1 in 32,000 in individuals of
Asian origin.. The carrier rate in whites is 1 in 30 compared with 1 in 60 in African
Americans and 1 in 90 in Asian Americans.. Pulmonary complications account for
most of the morbidity and mortality associated with cystic fibrosis. Advances in the
treatment of cystic fibrosis with mucus thinners, bronchodilators, antibiotics and
anti-inflamatories have transformed what was only a childhood disease into an adult
pulmonary condition.

Testing for cystic fibrosis carrier status can be performed in a blood sample or
saliva. While some medical providers only consider testing couples considered to be
at high risk of developing cystic fibrosis, current recommendations include the carrier
screening test be made available to all couples planning pregnancy. A baby is not at
risk for cystic fibrosis unless both parents are carriers of the mutated gene. A couple
in which both parents are carriers should consider genetic counseling prior to

The ideal time for genetic counseling is before a woman gets pregnant. Ethnic origin
and family history are indicators for the need for genetic counseling to avoid passing
the disorder to their children. In a pregnant woman, screening may start by
evaluating the child's father. If the father is negative, the child could become a
carrier but will not suffer from cystic fibrosis disease. If the father is a cystic fibrosis
carrier, the unborn child can be tested by means of chorionic villi sampling or by
amniocentesis. When both parents are carriers of cystic fibrosis, assisted
reproductive technologies that combine pre-implantation genetic diagnosis with
in-vitro fertilization is now available to help parents prevent the transmission of this
genetic disorder. Pre-implantation genetic testing is also available for couples using
in-vitro fertilization as an alternative form of reproduction.

Cystic fibrosis is an autosomal recessive disease which means that to inherit cystic
fibrosis the child must receive a defective gene from each parent. Carrier testing is
used to identify individuals (not affected) who carry one copy of a gene mutation
that, when present in two copies, causes a genetic disorder. If both parents are
carriers, genetic counseling is required. A detailed discussion must include the 1 in 4
chances (25%) of having a severely affected child and 1 in 2 chances (50%) of
having a child who becomes a carrier of the disease like his/her parents. There is
also a 1 in 4 chances (25%) that the child will be free of the abnormal gene and
neither be a carrier nor have the disease.

If your child suffers from cystic fibrosis and you were not given the option to undergo
genetic counseling and/or genetic testing,
Dr. Borten and the  Boston area medical
malpractice attorneys at Gorovitz & Borten can help you assert your rights and get
the compensation you deserve.
Contact Information
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possible), please contact us by phone, fax or e-mail with your question or concern.

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