Medical Information
Spencer featured in MEDICAL + WELLNESS Magazine Print E-mail
Mwmag1
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PROSTHETIC ENHANCE INDEPENDENCE
BY TRACEE SIOUX

Whether it’s enhanced athletic ability or simply being able to reach cookies on the counter, independence makes an enormous impact on quality of life.

Skateboarding, Swim Team & Karate without Legs

Spencer Hawk is an active, bright 10-year-old. If all goes well with an upcoming surgery, he’ll be getting new prostheses from Prosthetic and Orthotic Group in Fort Collins and Loveland in August. Spencer and his family hope new legs will allow him more independence as he matures and his interests broaden.
Spencer was born with Thrombocytopenia-Absent radius (TAR) syndrome, causing, among other health concerns, painful bent legs and very short arms. In 2008, Spencer’s left leg was amputated, and doctors attempted to straighten his right leg with a titanium rod.

“My legs were bent, and since they were bent, all I could do was scoot on my knees, but it would hurt my knees all the time, so I could not stand up,” says Spencer. “I had a knee scoot and I always got wounds on my knees.”

“Double amputees rely solely on their arms, but Spencer’s arms are so short, they really wanted to save the leg,” recalls Jennifer Powell, Spencer’s mother. The concern was with Spencer falling forward without normal-length arms to catch him. A natural leg supplies more balance than a prosthesis.

After a time, complications and excruciating pain rendered his right foot non-functional. Six months of unendurable pain later without achieving a functioning leg, Spencer’s right leg was amputated as well.

Spencer currently has ill-fitting prosthetic legs that he doesn’t like to wear. He’s grown out of them, they are too heavy, and the feet don’t keep his balance as well as he’d like. When he falls, it’s much further and hurts far more than when he falls from his residual limbs.

Without his prostheses, Spencer skateboards, walks, takes karate classes and is on a swim team. With prostheses, Spencer can reach higher things, walk on hard surfaces, and achieve a height more equivalent to his peers.

“When I can’t reach things that are taller than me, I can get in my legs and reach the thing that I need,” he says. “I can walk around in them, like my stumps, but with my stumps alone I can only walk on soft surfaces, while on my legs I can walk on hard surfaces. With stump liners I can walk on soft and hard surfaces, but I’m still going to be shorter.”

“With legs he can look people in the eye and be able to reach things; since he was born with short arms, the height is a big thing,” says Powell.

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The Citizen Scientists Print E-mail

Here are a couple of Articles that were originally published in WIRED magazine that I found very interesting. I think they provide a different context for viewing physical differences and the challenges involved for the families, the parents, and most of all the children.


The Citizen Scientists : by Sara Solovitch

Here is a the story featured in the September 2001 Wired article "The Citizen Scientists." An article by Sara Solovitch.

"United by the Net and emboldened by their numbers, parents of desperately ill children are funneling millions into research, building vast genetic databases, and rewriting the rules of the medical industry."

Download "The Citizen Scientists"

 


The Next Brainiacs : by John Hockenberry

Here is a the story featured in the August 2001 Wired article "The Next Brainiacs." An amazing Article by John Hockenberry that talks about the present and future of assistive devices. He compares them to user interfaces (much like this webpage) that allow people to interact with the world (just like you are now accessing information in code from my webserver).

"Bodies are an arbitrary evolutionary solution to issues of mobility and communication. the brain has no particular preference for any physical configuration as long as functionality can be preserved"  --John Hockenberry

Download "The Next Brainiacs"
 
Additional Medical Support Print E-mail

Where can I find additional information about TAR syndrome?

You may find the following resources about TAR syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for TAR syndrome?

  • chromosome 1q21.1 deletion syndrome, 200-KB
  • radial aplasia-amegakaryocytic thrombocytopenia
  • Radial aplasia-thrombocytopenia syndrome

What if I still have specific questions about TAR syndrome?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding TAR syndrome?

blood clotting ; cell ; chromosome ; clotting ; deficiency ; deletion ; DNA ; gene ; hemorrhage ; inheritance ; inheritance pattern ; kb ; kidney ; kilobase ; malformation ; micrognathia ; platelets ; short stature ; sign ; stature ; symptom ; syndrome ; thrombocytopenia

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (5 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

This information is reprinted from Genetic Home Reference.

 
So my doctors say my child has TAR Syndrome... Print E-mail
TAR Syndrome (Thrombocytopenia with Absent radius) is a rare genetic disorder which is characterized by the absence of the radius bone in the forearm, and a dramatically reduced platelet count.

TAR Syndrome

TAR Syndrome, Spencer HawkSymptoms of thrombocytopenia, or a lowered platelet count, leads to bruising and potentially life-threatening hemorrhage.

Other common links between people with TAR seem to include heart problems, kidney problems, knee joint problems and frequently lactose intolerance.

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