There are many possible genetic causes of dwarfism related to faulty functioning of different genes.

Dwarfism is associated not only with significant short stature, but also with disproportion in length between the limbs and the body.

Jacob’s story

Jacob* is 10 years old and he dreams of becoming the first “little pilot” to soar our skies. His mom, Ruby*, tells him he can be anything he sets his mind to. Other people might give Jacob one look and whisper behind cupped hands: “It’s not likely”. And, even though this plucky boy is used to people whispering about him, it does make him furious. You see, Jacob was born with achondroplasia, one of the most common forms of dwarfism.

Ruby thinks back to the birth of her son by Caesarean section. “It was all very confusing. I was not aware that I was giving birth to a child with dwarfism. My gynaecologist did not detect it during my pregnancy and the staff at the hospital called it a ‘growth abnormality’.”

Shortly after Jacob’s birth, Ruby’s marriage failed. She had to cope with a newborn who was undergoing tests and MRI scans and be a mom to then seven-year-old Sean*. For the next two years of Jacob’s life she felt shock, numbness, hopelessness, denial and anger. “The most difficult part was caring for a child who others considered abnormal. I struggled to understand this genetic disorder, when none of my or my husband’s family has a history of dwarfism. Sean couldn’t understand why his baby brother’s ‘head was so big’.”

acceptance

“I realised that I’d have to educate myself about Jacob’s condition to be able to accept it.”

The acceptance came after Ruby completed a counsellor’s training course. Empowered by her knowledge, she started building a normal life for her family.

Sean, although baffled by his brother’s “big head”, soon realised Jacob was like any other baby: adorable, funny and full of energy. And as the pair grew older, Sean constantly felt the need to protect his younger brother. “I told Sean that God gave him his brother so that he could be Jacob’s hero and look out for him. This gave Sean’s confidence a huge boost. Who wouldn’t want to be a hero?”

Initially Sean felt neglected when his sibling needed more attention (Jacob regularly had to undergo tests at the Red Cross Children’s Hospital), but with the help of family and friends, even this obstacle was overcome. Today Sean understands his role in Jacob’s life, and the two love spending time together playing drums, something Sean inspired in Jacob.

trying to live a normal life

Jacob is a busy person, like any boy his age, despite his physical disadvantage. And, it takes a Herculean effort for someone like him to try and lead a normal life, even if it simply means making people understand that he is normal. Jacob’s greatest battle is simply getting through everyday life. In addition, he has medical problems common to children born with achondroplasia.

“Jacob faced ridicule and teasing from ignorant children and adults from an early age,” says Ruby. “I call them ignorant because they don’t know any better and they act that way because they don’t know how to treat people who look different from them.” Ruby admits it affected the whole family. “At first, Jacob was unperturbed by these stares and whispers, but as he got older he couldn’t ignore it anymore.” The family adopted a motto: “these ignorant people are not part of our lives in any way”.

tough first year at school

However, when Jacob first started school, it was a big ask of him to stick to the family’s motto, which had come easy in the shadow of his mom’s protective presence. Jacob’s first year in school was tough academically, emotionally and socially, as the teasing gave him low self-esteem. He developed behavioural problems, turning into a bully to defend himself against the teasing and bullying. Eventually Ruby had to intervene by addressing the parents of Jacob’s classmates to explain his condition and how their children should treat him.

In Grade 1, Jacob was diagnosed with Attention Deficit Hyperactivity Disorder (ADHD) and his mom removed him from his mainstream school and enrolled him in a special needs school. The fact that he has achondroplasia can unfortunately cloud perceptions of why he attends this school.

caring, specially-trained teachers

Ruby says that even though the decision to change Jacob’s school was difficult, she now knows she has done the right thing. “With the help of medication and specially trained teachers, he is doing really well. However, he is still being teased, and like any normal child he has learnt to defend himself. He doesn’t back out of a fight though … a habit I’m still trying to get out of him.”

When Jacob is not fending off bullies, he lives a normal life. He swims, plays cricket and soccer and loves watching wrestling on television. A talented artist who draws and paints, Jacob also takes drama, dances to hip-hop music and plays drums in the youth band at church. He doesn’t want to be ridiculed or teased, he wants to be treated as an equal, hang-ups and all.

what is dwarfism?
Dr Michael Urban, a medical genetics specialist at Stellenbosch University and Tygerberg Hospital, explains. “Dwarfism is a term used to describe the appearance of people who are affected by one of the many ‘skeletal dysplasias’. This is the medical term for genetic conditions affecting bone growth. Many different genes are involved in the control of bone growth, with different genes being important in different bones and in different components of a specific bone.”

causes

Dr Urban says there are many possible genetic causes of dwarfism related to faulty functioning of different genes. Many of these will lead to specific patterns in external appearance or on X-ray. As a rule, dwarfism is associated not only with significant short stature, but also with disproportion in length between the limbs and the body.

genetics
Achondroplasia most commonly occurs as an “autosomal dominant new mutation”. This means that couples with a child who has achondroplasia are unlikely to have another affected child, unless one of the parents themselves has achondroplasia.

treatment
“The medical value of a specific diagnosis such as achondroplasia is that it allows one to anticipate particular health problems that occur more commonly, often at particular times of life,” says Dr Urban. Medical monitoring can then be targeted towards, for example, breathing difficulties and spinal deformity in infancy, glue ear and leg curvature in childhood, spinal narrowing in adolescence and a tendency toward obesity and arthritis in adulthood. In addition, a specific diagnosis allows one to distinguish conditions such as achondroplasia, in which there is a low recurrence risk for the couple’s future children, from those with a higher recurrence risk.

* Names changed for privacy