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9 Facts About Poland Syndrome People Didn't Know Until They Were Diagnosed

Although my parents were informed of my Poland syndrome diagnosis during infancy, I have always been shocked by the lack of detail they received about the condition. All my mom knew was that the right side of my body was affected, and despite the noticeable deformities to the right side of my body, I’d live a mostly normal life.

As I’ve grown up, however, I’ve learned that part of that lack of information had to do with the fact that the condition is so rare that most doctors barely even learn about it in medical school. Because of this, many people don’t learn about the finer details of this rare disorder (like the nine facts listed below) until they receive a diagnosis and research Poland syndrome on their own.

1. Poland syndrome is a congenital health condition.

Whether they realize it or not, individuals with Poland syndrome are born with the condition. This makes it a congenital health condition. Upon delivering the baby, doctors often notice the abnormalities and complete the physical exam or other tests needed for diagnosis.

However, some mild cases of Poland syndrome may not be evident until a child begins to experience growth spurts. In fact, some people don’t find out they have Poland syndrome until they reach puberty.

2. Poland syndrome can affect both muscle and bone development.

The main commonality people with Poland syndrome have is missing or underdeveloped pectoral muscles. However, the condition can also affect other muscles and bones throughout the upper portion of the same side of the body where the pectoral muscles are missing or underdeveloped. This includes the chest and ribs, shoulders, arm, and hand. Personally, I have a mixture of muscles and bones that are underdeveloped and/or missing.

3. Poland syndrome occurs on a spectrum.

The syndrome doesn’t have different forms, but rather occurs on a spectrum. Not everyone with Poland syndrome is affected to the same degree. Some people may only have a slightly underdeveloped pectoralis major muscle to the point that the condition is barely noticeable. Others may have a concave chest, shortened ribs, and short or underdeveloped fingers.

4. Poland syndrome is not an inherited or genetic condition.

So far, no studies have found a genetic link to Poland syndrome, which makes doctors believe it occurs sporadically. However, there are reported cases of multiple family members living with Poland syndrome, including siblings whose parents do not seem to have the disorder. In my case, the disorder has impacted family members across multiple generations, although I was the only one in my generation to be born with it.

5. Poland syndrome affects the right side of the body in the majority of people with the condition.

Despite all the variations that can occur with Poland syndrome, it seems to mostly occur on the right side of the body. In fact, an overwhelming 75 percent of people with Poland syndrome are right-side affected (myself included).

6. Sometimes, Poland syndrome can impact the spine.

Although it’s rare, there are reported cases of individuals with spinal defects directly tied to Poland syndrome. Furthermore, studies over the past decade have found an often overlooked connection between Poland syndrome and thoracic scoliosis. This makes sense, yet the limited amount of research and information on Poland syndrome makes it hard for practitioners to always see these types of connections.

7. Poland syndrome can also affect organ development.

In some rare cases, people with Poland syndrome also experience issues with their lungs and kidneys. The exact reason for this is not well known at this point, but there are enough reported cases that doctors will sometimes test kidney and lung function or perform additional labs when diagnosing Poland syndrome.

8. Treatment for Poland syndrome isn’t always necessary but can help.

Some people with Poland syndrome can go on to live mostly normal lives without any surgical interventions needed. However, some children with mild cases (especially girls) find that plastic surgery and other corrective procedures can help them. Furthermore, children with more severe cases may benefit from surgery on their hand or arm to help correct some of the missing or underdeveloped components.

Even if people don’t seek out surgery or treatment as a child, they may end up needing procedures later in life to improve breathing or quality of life. Others may find that as they age, they need to seek out specialists like occupational therapists or chiropractors to help with issues related to range of motion and chronic pain as a result of the disorder. It really just depends on the specific ways the disorder impacts the person.

9. The cause of Poland syndrome is not fully known.

Unfortunately, Poland syndrome is rare enough that researchers haven’t dug into the disorder enough to find a definitive cause. However, enough research has been done during my lifetime to narrow down the potential cause of the disorder.

At this time, there are a few different theories, all dealing with fetal development. Currently, the primary theory is that it is caused by a disruption of blood flow during the early stages of pregnancy. However, there have also been theories related to oxygen deprivation, and the fact that some families do see it recur makes a genetic component possible.

Poland syndrome is rare and often unheard of even within the medical community. This often makes it hard for families to learn about it after diagnosis, let alone before. However, after nearly 35 years of living, I am very glad that I’ve learned as much as I have about this condition that impacts my everyday life.

Getty image by Rossella De Berti.

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