Colin

Colin is a 6 year old train enthusiast. He loves live music, being in the woods, socializing and bringing smiles to the faces of anyone he crosses paths with.

Colin’s growth rate was relatively normal until his 2nd birthday. That’s when his parents recognized he wasn’t growing, and his legs were beginning to bow. This initiated visits to several doctors. The number of trips they made to doctor offices were almost equal to the number of questions they had. Eventually, a genetics test was recommended, and within weeks they had the results. They were informed Colin had a rare genetic disorder, and this particular genetic variant had not been previously documented. This obviously led to many more questions, and a deeper concern for the well being of Colin, and the obstacles he would face. Colins initial diagnosis of MED would soon be changed to Pseudoachondroplasia, due to the severe bowing of his legs.

Although many questions and concerns remain, Colin and his family have embraced these obstacles and are taking them on with full force! Weekly hydrotherapy sessions, and daily exercises and stretches have become a beautiful addition to their lives. Colin’s spirit and determination provide encouragement for all those around him. He truly is a shining star.

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Lydia

Lydia is about to turn four and would like a unicorn for her upcoming birthday. When she gets older she is hoping to be a princess.

From the minute she was born, Lydia has been the most delightful daughter imaginable – clever, determined and relentlessly engaging. As a baby she was never very interested in sleep and always wanted to be close to her mum. Lydia began walking at 14 months and had developed incredible speech by 18 months. This is when her height started to slow down and by two, Lydia was considerably smaller than her friends. Lydia was diagnosed with pseudoachondroplasia at the Royal Children’s Hospital in Melbourne, Australia in 2012.

As parents, it came as a huge shock. We had never heard of pseudoachondroplasia, had lots of questions and felt a lot of worry. The worry has eased but finding out more about the condition is a priority for us. This includes practical implications for Lydia’s life as well as continued research into pseudoachondroplasia.

Most of the time Lydia is busy doing everything a young girl should but sometimes she gets tired, falls over, complains her legs feel wobbly, that her ankles are sore and she needs help to walk. Sometimes she asks “When will my bones grow?” We are teaching Lydia to embrace her difference and find her own solutions to being small in a big world. However, at the same time, we are desperately hoping that research will help find ways to ease the pain of this rare condition so Lydia can get on with being Lydia.

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Ruby

Ruby is a 21 year-old with pseudoachondroplasia from England, UK, who has gone through a few medical procedures related to the condition. She is an amazing young woman who has never let pseudoachondroplasia get in the way of living an amazing, adventure-filled life! Ruby’s left leg was broken and re-aligned three times, the right leg done twice, ligaments were mashed in her knee, she experienced two Taylor Spatial Frames for leg straightening and had pins put in her leg here, there and everywhere in between! Hip replacements are the next procedure on the horizon, but she won’t let that stop her from her endless love of life! Until the day her legs are straightened for good and she can walk pain free, Ruby takes her crutches along wherever she goes…next stop hopefully being Australia so she can enjoy a swim with whales!

Ruby hopes that this website will help find a way to make life easier for future generations of people with pseudoachondroplasia. If she passes on the condition to her children (50% chance of this happening), she would  like to be able to give them as much support and as easy a life as possible! Visit her blog to read more about her experiences and her incredible adventures.

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Dylan

Dylan is a 5-year-old boy with a ton of personality who has been filling his family’s hearts with love and putting a smile on the face of everyone that meets him. Born at 9lbs 12 oz and 21 ¼ inches long, Dylan was a giant and kept growing until he was about 18 months old. He was a little behind in certain milestones, such as walking, however his parents did not see any reason for concern. The biggest enigma with Dylan was that he would wake up during the night and whimpering about leg pain during the day.

When he was 2 ½ he articulated that he had pain in his feet and knees. He was sent for an x-ray by a local orthopedic doctor, who told his mother there was an “abnormality” in his bones and was referred to AI Dupont in Delaware. After seeing the specialists at Dupont in 2010, Dylan was diagnosed with pseudoachondroplasia.

His parents now struggle to keep the pain in Dylan’s knees and ankles at bay, and they always have a heating pad and Motrin on hand at all times. They try to limit the amount of running and jumping that he does, but anyone with a 5 year-old boy knows how that goes.

His mom often say that Dylan is the toughest person that she has ever met. He knows that God made his bones a little different and that those differences will make it a little harder for him to do some things. His response to this fact is “I know, but God made me tougher than everyone else.”

With no history of dwarfism in Dylan’s family, his parents would never have imagined that it was a possibility. They would do anything to take the pain away from Dylan and hope that by telling his story to help raise research money may lead to more of a pain-free life.

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Riley

Riley Riley’s family felt so blessed when she entered their world in January 2010. She was very happy and healthy baby that showed no signs of medical problems. Riley seemed to hit regular milestones. However, her parents noticed she was not growing at 18 months. After a few appointments and DNA testing it was confirmed Riley had pseudoachondroplasia. This type of skeletal dysplasia affects the growth of her arms, legs, and joints. Riley seems to be in pain at times and will likely encounter surgeries as her joints wear down over time.

Riley is a great bundle of joy that is extremely energetic. She loves to dance, sing and swim. She has an incredible vocabulary for a three-year-old. She was a flower girl twice in 2012 and did an amazing job. Riley loves to play and explore new things.

Her parents hope to find ways to help fund research for future generations.

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Evelyn

Evelyn is a sweet, funny, smart and amazing six-year-old who brings joy to everyone around her. Her parents knew she would be special when she decided to enter the world on Christmas morning!

She developed the first few years of her life just like any other baby – hitting normal milestones and no health problems whatsoever. She did seem to take a bit longer to master the art of walking and climbing, but her parents thought this was just part of her calm personality. And as first time parents, they did not notice anything special about her limbs or body.

This is why it was such a surprise when, in January 2012, her parents received the pseudoachondroplasia diagnosis, only after a set of x-rays that occurred after mentioning to Evelyn’s pediatrician that her arms do not extend all the way at the elbow – a signature trait of this diagnosis. There is no such history in the family. After many tears and dark days, Evelyn’s family finds themselves in a much better place and are now learning and doing all they can to help and support her.

This desire to help not just Evelyn, but other children and individuals affected with pseudoachondroplasia, led to the founding of this website and collaboration with The University of Texas Medical at Houston to help fund pseudoachondroplasia research.

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Levi

Levi is an energetic three-year-old with a vocabulary of a five-year-old. He has two older brothers who keep him very busy! From the moment Levi entered the world, he put a smile on people’s faces from the moment they meet him.

He was a healthy, full-term baby who grew very quickly after birth. He hit all of his milestones as expected. Around 15 months, his growth slowed down a lot and the doctor noted it, but disregarded it because he was so tall for his age anyway.

At 20 months old he started speaking sentences and would tell his parents he hurt. That was the push they needed, they alway wondered if something wasn’t right due to all his illnesses, and the fact he never slept through the night. They thought it was an immune problem and never dreamed of a skeletal issue.

At that point, Levi went to a children’s hospital where tests were performed and he was diagnosed with SED – a skeletal dysplasia. Levi’s parents were not comfortable with this so they sought and found a world class hospital in Delaware with a skeletal dysplasia program. The family went in January 2011 and received a diagnosis of pseudoachondroplasia.

Levi’s traits with pseudoachondroplasia are bowed legs, a waddling gait, and joint pain.

So as of now, Levi is normal, crazy rough-housing typical boy. Nothing slows him down. His parents goal and mission is to reach as many families as possible to raise awareness of dwarfism and to hopefully help find some kind of cure/ treatment for the joint issues related to pseudoachondroplasia.

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Callahan

Eight-year-old Callahan was not diagnosed with pseudoachondroplasia until right before his third birthday. While his growth had slowed, his first real symptoms were severe leg pains. The once active child began to cry frequently at night and beg to get into a warm bath.

Initially suspected to have rickets, specialists later determined that he had a rare skeletal dysplasia. Coming to terms with this condition is often a process for parents and it was for his family. Callahan had no real symptoms his first years of life. He hit all his milestones early–in fact the earliest of his siblings to roll over, sit and walk.

A very bright boy, Callahan started kindergarten this year and loves his school work and his classmates. He is outgoing, happy and has the biggest smile you will ever see. He is also playing his first season of soccer, wanting to follow in his big brother’s footsteps, and while he sometimes seems to be frustrated because he can’t keep up with the other kids, he always gives it his all.

The hardest part of this condition is watching your child endure the pain, and Callahan’s parents are grateful to be helping raise funds for the University of Texas in hopes of finding therapies to help reduce the pain and joint problems associated with pseudoachondroplasia.

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