Awareness sought for girl with rare, fatal genetic disorder

Wednesday, May 9, 2007
Kassi Offenbacker

Mothers across the country will be recognized for their work and sacrifices this Sunday on Mother's Day, but in the life of one local mom, the date two days later is more significant to her role as a mother -- National MPS Awareness Day on May 15.

Trisha Offenbacker is the mother of Kasandra or "Kassi", an engaging five year old girl who has been diagnosed with Sanfilippo Syndrome or MPS III, a rare and fatal genetic disorder for which there is no known cure.

Like all parents of newborn babies who count fingers and toes and scrutinize their infants for any signs of physical abnormalities, Trisha and her husband Michael delighted at the birth of their first child, who from all outward appearances seemed perfectly healthy.

It wasn't until Kassi entered preschool in 2006 that certain developmental delays were recognized and her teachers recommended that Kassi be tested for neurological problems.

After lengthy rounds of testing, Kassi was positively diagnosed with Sanfilippo Syndrome, which is a mucopolysaccharidosis storage disorder, also known as mucopolysaccharidosis III (MPS).

"We were devastated when we found out that Kassi had this disorder... we had these feelings of disbelief and denial" Trisha explained, "and our first thought was that we needed to find a cure."

The disorder is characterized by developmental delays, accompanied by mild physical problems. Typical symptoms can include mental retardation, cloudy corneas, short stature, stiff joints, incontinence, speech and hearing impairment, chronic runny nose, hernias, heart disease, hyperactivity, depression, pain and a dramatically decreased life span.

In the past six months, Kassi has regressed considerably, according to Trisha, and the most important thing "is trying to make her comfortable."

During a recent physical therapy session, Kassi's mood changed quickly, at once exuberant and laughing as she jumped up and down, blowing bubbles in the bright afternoon sun, then suddenly quiet and absorbed as she colored in a butterfly design on the concrete and shyly offered a smile.

Though considered a genetic disorder, family history is not a good indicator of occurrence, as MPS is carried by a "hidden" or recessive gene.

Basic genetic information shows that all humans are formed with two complete sets of genes, one from the mother and one from the father.

For each enzyme produced in the body, there are two genes for it. A person can live a healthy life even if one gene is not working. The disease occurs when both genes do not work and the enzymes are not produced for the body to function correctly.

Genetic testing during pregnancy can determine if the unborn child is affected with the disease.

The disease is often diagnosed late, as the children do not look abnormal and their symptoms are non-specific.

As the disease progresses, the child will become very active, restless and exhibit difficult behavior.

Understanding and language ability will fade, making it hard for parents to communicate with their child.

Kassi can be very affectionate, her mother says, but she has to initiate the physical interaction.

"She won't let anyone touch her, she is very sensitive that way," Trisha shared, which must be hard for the parents wanting to give their child a hug or kiss.

Each day brings new challenges for Trisha and Michael, as they cope with the mood swings, physical changes and the inevitable loss of their daughter.

Strengthened by their strong faith and belief that things happen for a reason, the family, which includes son Tyler, a healthy 18 month boy, see Kassi as a "gift" in their lives.

Whether it is sending them off to school for the first time, or years later, watching them leave for college or sending them to war, saying goodbye is never an easy thing for a parent.

"I remember holding Kassi when she was a baby and telling my husband that she was not mine to keep, that someday I would have to let her go," Trisha said, "I just never thought it would be like this."

The Offenbacker's shared their story so that other parents could know that it is "okay to be different".

A donation account has been opened for the benefit of Kassi Belle Offenbacker at Wells Fargo Bank.

The account number is 7935323316 and the funds received will be used to provide physical therapy equipment for Kassi.

A website has been created where you can learn more about Kassi and MPS: www.caringbridge.com/visit/Kasandra.

For more information on Sanfilippo Syndrome, visit the National MPS Society website at: www.mpssociety.org.

The National MPS Society is an organization that provides support for parents, educates the public and creates awareness of the disorder.

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