Specifics on our diagnosis

We received our follow-up letter that details the diagnosis I referenced in a recent post. I'm posting excerpts here verbatim:

The child has a right hand anomaly with transverse deficiency, symbrachydactlyly with a stable thumb and small finger and nubbins on the index, long and ring finger. She has a strong pinch and stable thumb.

CHEST: She has absence of the clavicular head of the pectoralis major muscle, consistent with Poland's syndrome.

She has a full range of motion of the right arm.

I'll be doing additional posts specifically on the symptoms and the condition itself.

Research project underway on orthopedic birth defects

The Washington University in St. Louis School of Medicine has a research project underway with a goal of better understanding the possible genetic links behind certain orthopedic birth defects. The project is being led by Christina Gurnett, an assistant professor of neurology and pediatrics. Gurnett and team will be evaluating children who are being treated for congenital limb differences at St. Louis Children's Hospital's orthopedic clinic.

From the press release:

Gurnett is collaborating with Matthew Dobbs, M.D., associate professor of orthopaedic surgery. Together, they have established a DNA databank of musculoskeletal disorders that includes more than 700 DNA samples of patients with clubfoot; scoliosis; kyphosis, a curving of the spine that causes a bowing of the back, which leads to a hunchback or slouching posture; congenital vertical talus, a common cause of rigid flat foot; triphalangeal thumb, where the hand has another finger in place of a thumb; polydactyly, which causes the hands to have more than five fingers; and patients with other limb abnormalities.

Gurnett's objective is one that will certainly strike a cord with those who have children with limb differences and those who are living with a congenital deficiency.

One large family Gurnett is working with has a history of split hand malformation, a congenital limb malformation characterized by a deep cleft of the hand. Gurnett and her colleagues set up a genetics pedigree chart that shows which family members had the cleft hand.

"The third-generation women in this family are fearful of having children," Gurnett said. "We want to find the gene to help them determine their children's odds of having the disorder so we can find a way to prevent it. We may not find it the next day or the next week, but maybe in five to 10 years we will be able to use our advances in the lab to help patients in the clinic."

Mordecai Brown

A recent comment on this post alerted me to the story of Mordecai Brown. The commenter is the co-author of a book on the turn-of-the-century Chicago Cubs pitcher whose hand was disfigured in a farming accident. The authors also maintain this site dedicated to Brown.

Reviewing the site, you get a sense that Brown was an exceptionally determined individual as well as a great athlete. Teammate and fellow Hall of Famer Johnny Evans has this quote about Brown:

"You haven’t space enough to tell of the good deeds of Brownie on and off the field. Plenty of nerve, ability and willingness to work at all times under any conditions. Crowds never bothered him. There was never a finer character-charitable and friendly to his foes and ever willing to help a youngster breaking in."

The foreword for the book is provided by fellow Cubs pitcher and Hall of Fame member Ferguson Jenkins. An excerpt from that foreword is definitely going to be bulletin board material for our youngest daughter.

"When you start out with a disadvantage, you have to work harder to do what others take for granted In the end, that gives you an advantage."

A bit of Easter Sunday inspiration...

Came across the story of Keiron McCammon who blogs at A One Handed Blog. McCammon lost an arm in a paragliding accident over a year ago and since has been blogging about his experiences. He's recently started receiving some well deserved media coverage. I'd recommend reading this piece on the San Francisco Chronicle website that details McCammon's accident as well as his drive to maintain the momentum behind his startup company. From the Chronicle piece:

Today, McCammon has not only adjusted, he is thriving. He swapped his Jeep Wrangler for a Toyota Prius with the license plate 1 HANDED, commuting 80 miles round-trip from his Danville home in the carpool lane. He types with four fingers on one hand rather than pecking at the keyboard with two fingers on each. He has experimented with prosthetics so he can get back to the activities he enjoys, from practicing yoga to riding a bike to playing the guitar. This winter, he hit the slopes to snowboard again. As an amputee, he gets half-price lift tickets.

McCammon blogs about his experiences at www.onehandedblogger.com. He uses Kaboodle's software to compile resources for others who have lost a hand.

That passion for technology's life-changing potential has convinced McCammon that within five to 10 years, he will have a bionic hand, a transplant or the ability to grow a new one. In the meantime, his wife's love and his ambition for this tiny startup lift his spirits, much in the same way the wind used to propel his glider.

"You have to have something that drives you to get out of bed and get back to life as quickly as possible," McCammon said. "For me, it was Kaboodle."

(Hat Tip: Bethgo)

POSNA summary of congenital upper limb deficiencies

The Pediatric Orthopedic Society of America (POSNA) has this summary of "congenital deficiencies of the upper limb". The discussion section, while a little technical, is nicely condensed and provides a very general overview of conditions, rates of occurrence and treatment approaches. Included is this explanation of the classification system for congenital anomalies:

The classification system developed by Swanson is now internationally accepted, and divides congenital anomalies into seven categories, failure of formation (transverse or longitudinal), failure of differentiation, duplication, overgrowth, undergrowth, constriction bands, and generalized skeletal abnormalities. A number of anomalies of the upper limb are associated with cardiac anomalies, hematologic problems, and VATER syndrome. Poland's syndrome includes hypoplasia of the pectoralis major.

For those with access to (and a desire to review) medical literature, a reference section is included at the bottom of the page. There is also a PDF version of the entire summary.

Philadelphia prosthetist's work highlighted

Jeff Eichhorn, who serves as director of orthotics and prosthetics at the Shriners Hospitals for Children in Philadelphia, was featured in this article in the Connellsville Daily Courier. The article includes a quote from Eichhorn on how cultural differences play into prosthetic treatment.

Eichhorn's treatment can differ depending on whether a child lives in America or abroad. Cultural distinctions matter.

"Here, in the United States, we stress function over cosmetics. In a lot of countries, cosmetics are important," he said. "In Iraq, an arm missing could indicate you are a thief, even though you did nothing illegal. A cosmetic arm is not functional, but being normal in their society is vital."

CARES Act

I was alerted to the introduction of the Children’s Access to Reconstructive Evaluation and Surgery Act -- or CARES Act -- via this American Society of Plastic Surgeons press release. The legislation was introduced by Reps. Carolyn McCarthy (D-NY) and Patrick Tiberi (R-OH). Below is the ASPS release in its entirety. I've bolded the highlights.

ASPS Applauds Introduction of Legislation to Increase Access to Reconstructive Surgery for Children
For Immediate Release: March 23, 2007

ARLINGTON HEIGHTS, Ill.—The American Society of Plastic Surgeons (ASPS) today announced its support of the Children’s Access to Reconstructive Evaluation and Surgery Act—or CARES Act. This bi-partisan legislation was introduced today in the House of Representatives by Reps. Carolyn McCarthy (D-NY) and Patrick Tiberi (R-OH).

In response to an increasing number of insurance companies denying coverage for reconstructive procedures to correct deformities in children, the CARES Act would require insurance companies to provide coverage for the treatment of a child’s congenital or developmental deformity or disorder due to trauma, infection, tumor, or disease. Seven years ago, President George W. Bush signed comparable legislation into law while Governor of Texas.

“The ASPS and Coalition for Coverage of Children’s Deformities believe that a statutory requirement for insurance coverage of children’s deformities is vital to correct the growing problem of insurance companies denying care on the grounds that the care provided is cosmetic in nature,” said Roxanne Guy, MD, ASPS president. “The American Medical Association defines reconstructive surgery as being performed on abnormal structures of the body caused by congenital defects, developmental abnormalities, trauma, infection, tumors or disease. Reconstructive surgery is generally performed to improve function and approximate a normal appearance. The CARES Act identifies the distinction between cosmetic and reconstructive surgery.”

Lauren Mandel, now a teenager, was denied such coverage when she was a little girl. Insurance covered the life threatening procedures for her arterial venus malformation (tumors made of blood vessels) but denied surgery to fix her jaw and teeth, stating it was considered a cosmetic procedure. Lauren finally had the surgery, which was paid for by her parents.

“My daughter deserves that chance as does every child in this country,” said Bernadette LaPoppa, Lauren’s mother. “No family should have to face the obstacles we have faced or experience financial hardship to receive necessary care from the appropriate medical specialist.”

According to the March of Dimes, 3 percent of babies born annually (120,000) suffer from birth defects. A birth defect is an abnormality of structure, function, or body metabolism present at birth that results in physical or mental disabilities or is fatal. Of the 120,000 children born annually with birth defects, approximately 40,000 require reconstructive surgery.

Examples of these deformities include cleft lip, cleft palate, skin lesions, vascular anomalies, malformations of the ear, hand, or foot, and other more profound craniofacial deformities. Although surgeons are able to correct many of these problems, an increasing number of insurance companies are denying access to care by labeling the procedures "cosmetic" or "non-functional" in nature. A survey of ASPS members revealed that nearly 54 percent of respondents indicated they had pediatric patients who have been totally denied insurance coverage, or had experienced significant and deleterious obstacles in obtaining approval for coverage of surgical procedures.

“The CARES Act is common sense legislation that will improve the current delivery system and restore patients’ and families’ trust and confidence in their health plans. Too many American families are being denied access to health care that would prevent long term physical and psychological injuries. The procedures used to treat these children are, by definition, reconstructive, and should be covered by insurance,” said Dr. Guy. “Speaking on behalf of the ASPS membership, we thank the sponsors of this proposed legislation and appreciate their support. As plastic surgeons, we recognize this disparity on a personal level with our young reconstructive patients and their families.”

Shriners sponsors Maryland patient screening

From the Frederick News-Post:

"Volunteering their time to help children with orthopedic or burn problems, 19 employees of the Mid-Maryland Musculoskeletal Institute offered a patient screening clinic Saturday.

Members of the Ali Ghan Shrine in Cumberland, a branch of the Shriners of North America, used the facility on Thomas Johnson Court for five hours to give parents with children needing medical assistance an opportunity to apply for treatment at no cost. No appointments were needed.

Children were accepted with conditions including burns; scoliosis; clubfeet, a common birth defect; leg length discrepancies; limb deficiencies; orthopedic problems associated with cerebral palsy; congenital hip, neuromuscular, hand and back problems; sports injuries; and cleft palette."