Limb Loss/Difference Awareness Month: The Possibilities Are Endless

Written By: Elena Croy, Co-Author of Dear Mama: Stories of an Extra Lucky Life

I’ve learned to quietly observe my children as they travel their unique orbits. This pounding heartbeat is mine, not theirs. The churning stomach that aggravates my nerves is mine, not theirs. The projection of fear onto an uncertain future is yet again mine, not theirs. They live in the moment, and these moments are theirs to mold and mash and stretch however they please.

My beautiful son Henry lives with upper limb differences. We celebrate the “extra” that is our daughter’s extra chromosome (she has Down syndrome), but we had no vocabulary, no context, no understanding with which to celebrate our Henry’s “missing” left arm when he was born in 2017. Our daughter came with a long checklist following decades of research into trisomy 21, including schedules for medical tests and therapeutic interventions, whereas Henry’s arm was a single symptom with fatalistic differentials and diagnosis unknown. Why did this happen and what would it mean for him?

The perinatologist at Maternal Fetal Medicine noticed Henry’s underdeveloped left arm very early on, and we followed its growth through my entire pregnancy. I had an amniocentesis, something I was adamantly opposed to during my pregnancy two years prior with my daughter, to determine whether there was a genetic explanation for what we believed was a single upper limb difference and whether it was part of a larger syndrome that would require intervention prior to or upon birth.

Every pregnancy is different. What you think you’d never do during one, you do during another. Your baby, your own health, and your life circumstances consciously or subconsciously inform the decisions you make along the way. Our genetic counselor told us about whole exome sequencing (WES), which analyzes a relatively small piece of the genome, but the exome carries 85% of physical traits, so it’s a great place to look for answers; however, insurance doesn’t cover prenatal WES and it would cost somewhere around $10,000 if we were to have paid for it out of pocket. As luck would have it, there was a study taking place just across the river in New York to determine if WES is useful prenatally in diagnosing and supporting medical intervention of limb difference, so we used most of the amniotic fluid for pre-approved genetic panels and submitted what remained for the prenatal WES study.

Henry’s big sister, Hope, gifted him a limb-different Vermont Teddy Bear for his first Christmas.

A consideration we had to make during genetic testing was that if a genetic condition or marker were uncovered, it could potentially follow our son throughout his life. The Genetic Information Nondiscrimination Act (GINA) protects against health care discrimination by insurance companies and employers—for example, protecting him from increased insurance premiums should the WES reveal genetic markers for Parkinson’s disease or prostate cancer—but laws change and expire, and he would have a long life ahead of him, possibly living with implications to health care coverage based on a decision we made before he was even born and could voice any concerns of his own.

My husband and I committed to the testing and the risks involved, vowing to protect him financially should any burden be placed on him for whatever the WES might reveal, but after months of waiting with bated breath, nothing was uncovered. As of my being 8 months pregnant, we still had no idea why our baby boy would be born with one arm.

This had to have been my fault. What did I do? Was it the microwave? Did I pick up a germ that crossed the placenta? Had I spent too much time in the tanning salon during my 20s? I must have hurt my baby, there’s no other explanation. I did this, but what is it that I did??

Henry came to us via c-section in October 2017, just a few days before his due date, with the umbilical cord wrapped three times around his neck. He was blonder than we expected. He had more of a golden tone than our daughter did when she was born. His arm was so much smaller than it looked like it would be when the technician studied it on ultrasound.

But it wasn’t just his left arm that was short and underdeveloped—something was wrong with his right thumb. He had five fingers, yet his thumb didn’t look like a thumb, it looked like a finger. It wasn’t in the right spot. The first orthopedist we consulted with told me I was overreacting and that I shouldn’t make a problem where there wasn’t one, but our occupational therapist who visited him in the hospital validated my concern and said we’d follow it as he got older.

Henry has what is known as longitudinal upper limb differences. Unlike the amputation of a latitudinal difference, commonly occurring as a result of amniotic band syndrome, Henry’s bones just didn’t develop. The anatomy of his left arm is both unlike anything that makes sense to the average Joe and yet pretty familiar based on similar differences of people we’ve become acquainted with throughout the world via social media. Despite the similarities, there is still no genetic mutation identified as responsible for this type of limb development. This knowledge, or lack thereof, thrusts me into deep, dark rabbit holes when I least expect, and thankfully less so as time goes on. But every now and then I hear a story or learn of a new diagnosis, and I consult with his doctors or infamous Dr. Google to see if my concerns warrant any merit. They never do.

We had been all consumed for my entire pregnancy about Henry’s left arm, and yet it was such an extreme difference that there was nothing really to do with it once he was born. We always wanted our son to know his body and to have confidence in his abilities, and it was with this mindset, combined with an understanding that with his specific anatomy, any prosthetic would be cumbersome and counterproductive to his physical and social/emotional development, that we decided against pursuing prosthesis. I’ve had to reiterate this to multiple doctors and school professionals and friends over the years, and we remain confident in our position: If and when Henry chooses to use a prosthetic, it will be his decision to make, not ours.

The only good thing that first orthopedist did for us was refer Henry to Shriners Hospitals in Philadelphia. There, his right thumb was easily spotted and diagnosed as a Type IIIa hypoplasia, the most drastic grade before full amputation of his thumb would have been indicated. Henry ended up receiving a tendon transfer and repositioning when he was 22 months old, landing him in a full-arm cast for four-and-a-half weeks. That was a very tricky month, where he had no use of his hand, and baths were strictly off-limits. But he did great and coasted through his 12-week postoperative protocol, something his surgeon attributed to not being able to compensate with a second hand.

Regrettably, as a result of his limb difference and the way he navigates planes as his development has taken him from the floor as a toddler, to the table as a student, he has developed functional idiopathic scoliosis. When he was first diagnosed, he underwent testing that included a spinal MRI, renal ultrasound, and EKG/echocardiogram, all of which thankfully revealed that besides his spinal curve, he is as healthy on the inside as his radiant spirit would suggest from the outside.

Now every six months we visit the hospital for a low-dose X-ray to check his curve and an orthotic checkup of his custom-molded brace. He has a 504 plan at school that includes nursing support and self-advocacy encouragement for his needs surrounding his scoliosis brace, including both donning/doffing the brace and the time away from school for doctor’s appointments. He sleeps in the brace and wears it for about 7 hours each day. When his skin seems irritated, we give him more brace breaks, which thus far have not negatively impacted the maintenance of his curve. When he’s a little older, we will begin the Schroth Method of physical therapy, specifically indicated for scoliosis. His doctor says the success of the Schroth Method is strictly anecdotal, but I’m a mom, and moms know firsthand the value of an anecdote!

We are so proud of Henry.

He isn’t missing anything after all. Henry has extra spirit, extra compassion, and extra problem-solving skills. He can turn pages of the books he reads. He can write. He can feed himself. He can get dressed and undressed. He can use the bathroom. He can swing. He can climb a rock wall. He can scramble through the woods. He can swim. He can brush his teeth. He can snuggle. He can comfort. He can be comforted. He can dream. He does dream. He will always dream.

Part of understanding differences in physical, emotional, or intellectual development is understanding that individuals and families will navigate their needs in ways that are unique to themselves. Henry’s story is one among so many, and even now I’m telling it from a maternal perspective, but self-advocates abound and are sharing their stories widely. I encourage you to follow them and learn from them, because limb difference can be congenital or traumatic; lower or upper; single, double, triple, or quad; as a result of disease or injury or neither; to an individual of any race or socioeconomic class. The stories are endless, as are the possibilities.

A note on Henry’s clothes:

Henry receives accommodations in his kindergarten class, such as special scissors for cutting, and taping his papers to the table during writing and coloring activities. Friends step up to the plate to help him with his lunch bag and backpack, though for the most part he is self-sufficient.

I have been modifying his clothes for nearly his entire life. Our best mods have been:

· adding snappers to affix tops to waistbands when he was a baby to keep shirts/sweaters from riding up, since he didn’t have the anchor of a second arm

· cutting one long sleeve out of a faux-layered t-shirt (fav brand: Children’s Place for the extra fabric beyond the seam)

Favorite off-the-rack brands/models:

· Kiziks and Nike Flex Runner slip-ons (we steer clear of Velcro and zippers on our shoes)

· Cat & Jack Adaptive Seated Fit Jeans

· Tommy Hilfiger magnetic closure jackets

Favorite professional alterations:

· Henry modeled for Target and Stride Rite last fall for the Runway of Dreams Adaptive Fashion Show in Brooklyn, NY, and received phenomenal professional alterations by a company called Sewn Adaptive, who took in the waist of his sweatpants and altered the neckline of his t-shirt to accommodate his narrow left shoulder.

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Many thanks to Elana for sharing her family's story with limb differences and recommendations for adaptive clothing!