drnetcher.com

drnetcher.com is another good resource for basic questions about congenital hand conditions. The site is easy to navigate and doesn't burden the visitor with an overabundance of medical terminology. The site is hosted by Dr. David T Netcher who is chief of hand surgery at Texas Children's Hospital and runs the hospital's Hand Surgery Clinic.

The site offers visitors a chance to ask questions directly of Dr. Netcher. I haven't attempted to utilize the contact form so I can't say how timely or informative the answers are. If anyone has, please feel free to add your feedback in the comments section.

UK Resources

Courtesy of Google Alerts, I was made aware of a UK-based organization called Reach. Formed in 1978, the organization's mission has evolved from a single issue advocacy group to a more comprehensive support network for families of children with hand and arm deficiency. The group's "why we are here" explanation includes challenges that many of us are familiar with:

"There are many types of hand or arm deficiency, the anomaly is so varied that obtaining support can be difficult. Many professionals involved in health care do not see enough cases to build up expertise. Reach hopes that by pooling the knowledge of its membership it can offer a level of support to all."

Reach has organized branches throughout England as well as groups in Scotland and Ireland. Reach can be contacted at 0845 1306 225 or by email at reach@reach.org.uk

Overcoming the Challenges

Yesterday's Memphis Commercial Appeal had this article on high school senior Robert Long. Robert was born with thrombocytopenia absent radius or TAR syndrome. As the reporter details:

"He's missing the radius, or smaller bone, of his lower arms. He also didn't have a muscle that was important for controlling his thumbs, and thus his grasp. He underwent five surgeries, beginning at six months of age. One was to stitch a muscle from the pinky fingers to his thumbs."

The article covers Robert's relationship with girlfriend Christy Stratton who is deaf. Despite his condition, Robert's managed to learn some sign language in an effort to better communicate with her.

What really comes through in the story is Robert's resolve to learn and master skills that would seem difficult given his physical challenges. His mother uses a line to describe him that could apply to any successful person regardless of whether they have a disability.

"He doesn't do everything the way we do it," said his mother, Brenda Long. "He improvises and finds a way to do it."

Polydactyly

I've been scouring major online information sources to gauge the frequency of entries for congenital limb differences -- particularly those that affect the hand. Came across this Wikipedia entry on Polydactyly (which means that an extra digit is present on the hand or foot). The rates of occurrence were higher than I would have expected -- about 1 in 500 births.

"the frequency varies greatly from population to population. It is higher in some groups (an example is the Amish in the United States) due to the founder effect.

The entry includes six photos of variations of the condition -- four of which are x-rays. The explanation is followed by several lists including one that details real and fictional characters who were affected by Polydactyly.

Given the familiarity many have with resources like Wikipedia, I hope that we'll see more entries specific to congenital limb differences. And if specific entries don't exist, I hope savvy parents, relatives and friends will take the time to create new entries so that those looking for information in the future can find it more easily.

ASPS: Counseling Parents

If you're curious how plastic surgeons are instructed to counsel parents of children with congenital hand malformations -- there's a resource on the website of the American Society of Plastic Surgeons that will give you some insight. You'll need to scroll almost to the bottom of the page to find the relevant section. Key section is excerpted here:

"Consultation with the patient's parents must stress the importance of restoring function to the malformed hand, even if cosmetic appearance must be a secondary consideration. The unique function of the hand throughout life mandates that function be restored as fully as possible--e.g., providing pinch and grip function will be essential to many occupations."

Cartoon Character with Limb Difference

My discussion board monitoring led to me finding out that one of my oldest daughter's favorite shows -- Maya and Miguel on PBS Kids -- includes a character Andy with an upper limb difference. It appears that Andy is missing his arm just below his elbow. The QandA section includes a question about Andy's arm.

eMedicine.com: Congenital Hand Deformities

I just came across what appears to be a pretty comprehensive article on congenital hand deformities at emedicine.com. While this is a medical article and written for a medical audience (which disqualifies me from commenting on it authoritatively) -- it does have some helpful facts about the rates of occurrence and also details treatment options for each specific condition. Some of the interesting facts include:

• A 20-year study in New York gave the incidence of congenital hand deformities as 1 in 626 (Conway, 1956). Regional and ethnic differences exist. Camptodactyly, syndactyly, and polydactyly are the most common abnormalities. Other studies give the incidence as 0.7%.

• Only 5% of congenital hand anomalies occur as part of a recognized syndrome.

The article separates the conditions into 7 categories or types. Type 1 is Failure of Formation which is what my daughter is currently diagnosed as. More specifically she's in the subcategory: "Transverse arrest at the carpal, metacarpal, and phalangeal level."

Of personal interest in the explanation of this subcategory is that the article notes that "these are often difficult to distinguish from constriction band syndromes or as part of a cleft hand." Which would mean that both the initial diagnoses we received from doctors in Omaha could be understood given their lack of familiarity with the condition.

Curtis National Hand Center

The Curtis National Hand Center runs a free monthly clinic where a team from the center provides a joint consultation for families with children that have congenital hand differences. We were lucky enough to get into the clinic that was just held in November. They see about 5 to 6 cases per clinic.

The clinic itself appeared well organized. Registration was straight-forward when we got to the hospital and our appointment started exactly on time.

We started with with one of the physicians training at the center. He gathered some basic information and took x-rays of our daughter's hand. It only took about 15 minutes total. We then waited for about 10 more minutes before being called into a conference room where we met a group of six physicians. The two lead doctors were Dr. Thomas J. Graham and Dr. Michael S. Murphy. The others were fellows who observed but didn't comment. Both Graham and Murphy spent a few minutes looking and playing with our daughter's hand. Dr. Graham took the lead and gave us his initial prognosis. In summary they were very optimistic about the function they believed our daughter would have with her hand. They explained in layman's terms that you basically make two kinds of grips with your hand -- a hammer grip and a coke can grip. They said that our daughter could form a coke can grip. Dr. Graham called the condition "transverse failure of formation" and that it was definitely not Amniotic Band Syndrome. While they encouraged us to see a geneticist, they stressed that often with cases like these there's not a genetic or environmental explanation. It just happens for some unknown reason. They answered a few more of our questions and then Dr. Graham asked us to schedule an appointment with him within the next 3 to 4 months and at that point he could observe whether the hand was growing consistently and we could discuss what if any surgical procedures may be necessary in order to ensure our daughter maintains the function she has.

Meeting with real experts about our daughter's condition had a significantly positive affect on our overall comfort level with her situation. The combination of their obvious expertise and the relaxing environment of the consultation provided more than a little relief for us. Knowing now that our daughter will be in the care of a great team even if she ends up requring very little actual treatment for her hand has given us sure footing for the first time since she was born.

Online Resources

As someone used to being able to easily find information on obscure issues online, I was surprised how difficult it was to find an authoritative resource on congenital hand differences. We also struggled to find a community of families facing similar conditions. The initial problem was terminology. There are so many variations of conditions and even medical professionals, especially those unfamiliar with the topic, referred to her condition with descriptions like "lobster claw". They not only sound unfortunate but sent us off on a couple wild goose chases when we first started researching the topic.

Eventually we came to learn that the accepted description of our daughter's condition is called a Limb Difference. Entering that into Google (use the plural "limb differences") immediately brought us to limbdifferences.org. The site is maintained by parents of children with limb differences. Its most valuable tool is the Connections section that functions as a discussion board. The ability to search past discussions is very useful. In fact my wife and I didn't even end up needing to post a question. By reading past discussions we got leads on treatment centers and hospitals and recommendations and reviews on the leading specialists in the country.

The discussion boards led us to the Curtis National Hand Center at Union Memorial Hospital in Baltimore. This appealed to us because I frequently travel to DC on business and my wife and I were familiar with Baltimore having lived in the DC/Maryland/Virginia area for 6 years.

The limbdifference.org website also hosts discussions with physicians Brian Harley and Jeffrey Wint who volunteer their time answering questions from discussion participants.

It's hard to overstate what an important resource this site turned out to be for us. The parents and physicians who take the time and initiative to maintain this site and patiently answer questions from the nervous parents and relatives of these kids are doing families like ours a tremendous service.

Initial Consultations

Other than her hand, my daughter appeared perfectly healthy and we were able to go home from the hospital within the normal 48 hour time period. Our pediatrician referred us to a pediatric orthopedic surgeon in Omaha who was able to see us when she was about 4 weeks old. This is usually the standard process as directed by most managed care providers:

"The era of managed care has changed the patterns of referral of children with limb anomalies. Frequently, the child is referred directly to the orthopaedic surgeon by the pediatrician."

The orthopedic wasn't familiar with her condition either although he was able to recommend some specialists including Dr. Paul Manske in St. Louis.

By the time we met with this orthopedic we had done enough research to know that limb differences can also be a symptom of other conditions such as kidney and cardiovascular problems. Our pediatrician did not tell us this. So in addition to consulting with orthopedic we were also able to get an x-ray and ultrasound that confirmed that her skeletal structure and organs were functioning normally. The orthopedic diagnosed the condition as Amniotic Band Syndrome.

Through our friends we had also been given the name of a hand surgeon in Omaha who had some experience with congenital hand conditions. We saw him the same week as the orthopedic. He diagnosed it as a form of atypical cleft hand. He was also the first doctor we saw to use the term "failure to form" when we asked what we should tell others what the condition is. He told us that initially he thought my daughter's hand was likely to be relatively functional because the pinky and thumb were largely intact and that she was able to form a pincher grip. He asked to see us again in 6 to 8 months.

Both doctors said it was too early to get a usable x-ray of her hand. Both also reinforced what they emphasized as the most important point -- that as parents we were calm about the situation and that we needed to make sure we were enjoying our daughter just like we would any normal newborn.

Birth

Our daughter's birth seemed perfectly normal. At least right up until the time the delivery doctor informed us that she was missing fingers on her right hand. After the shock wore off, the frustration set in. Later, as we learned more about the experiences of others, we understood that it's typically about 50/50 whether the condition is caught by the ultrasound prior to birth. At the time however, it seemed impossible that this is something that shouldn't have been caught at the 20-week ultrasound.

The next day we had our first discussion with our pediatrician. It was immediately obvious that he hadn't seen anything like this before. It turns out that congential hand differences occur between 1 out of every 50,000 to 70,000 births. To benchmark that ratio note that 1 out of every 28 children are born with at least some kind of birth defect.

Launch

A couple months ago my youngest daughter was born with a congenital birth defect of her hand. She's missing her index, middle, and ring fingers on her right hand. As of today it's been diagnosed as "transverse failure to form". Which basically means the fingers just didn't form for whatever reason. She's otherwise perfectly healthy and has the ability to form a pincher grip between her pinky and thumb -- which may end up enabling her to have a considerable amount of function with the hand.

I started this blog to chronicle her treatment as well as to hopefully act as a resource for others looking for information on this condition. Through research and the help of family, friends and colleagues we were eventually able to find several helpful online resources and communities. But initially the combination of the rarity of the condition (we're confident our pediatrician hadn't dealt with it before and he has been practicing pediatrics for over 20 years) and the difficulty finding information on a condition without an expert diagnosis was frustrating for my wife and I. I hope this blog can help ease the information flow (and corresponding anxiety) for anyone else facing this situation.