Throughout the last year, I’ve learned so much about dwarfism from my own experiences and the experiences of many others. Since Nora’s form of dwarfism is the most common type, there is more (But still not a ton) information circulating around related to it. Achondroplasia is still very rare but common in the world of skeletal dysplasias. I’ve had the opportunity to learn about several other types of dwarfism within my circle of POLP. I wanted to share some information and personal stories with you.
This week I’d like to highlight Kneist. Kneist is also characterized by short stature, along with bone growth issues, hearing and vision problems in some cases. People with Kneist have a short trunk, shortened arms and shortened legs. Some individuals may have larger joints which cause pain and limited movement. For people who have Kneist, their bones are shaped differently and may grow differently. They have holes in their cartilage. They may have a flattened mid face, larger eyes, breathing problems and a cleft palate at birth.
Kneist is caused by a gene mutation known as COL2A1. This gene aids in the production of a protein that produces collagen which is important in the development of bone and connective tissues.
The gene mutation which causes Kneist is 1 in a million.
I’d like to introduce you to Bree. She has Kneist.
Bree’s dwarfism was a surprise. This is the case with many infants with dwarfism. No one is Bree’s family has any form of skeletal dysplasia. Bree is almost 2 and is growing and thriving.
From Bree’s mom, Areen:
“When Bree was born we were not expecting any of this. We entered into a new world. It wasn’t just her skeletal dysplasia but the soft cleft palate, the hearing loss, feeding tube, and breathing difficulties. We had to deal with so much at first and didn’t know what was happening. BUT we always kept our faith and knew that God created this beautiful baby girl and picked us to be her parents. We found comfort and strength in that. She has overcome so much. She’s incredibly strong and resilient. Bree is going to do what Bree wants to do in her own way and time. We were told to put her in a neck brace and body brace at first. Because the specialist we first met had no idea about her condition. Praise God we researched and found the amazing team at Nemours Hospital. She’s now mobile and able to do what most kiddos her age can do. In summary we love being parents and god has blessed us with 2 amazing girls. One has a form of dwarfism and the other doesn’t. To see those 2 interact has been an absolute joy.”
Thanks to Areen for sharing her story.
For more information on Kneist, please visit: