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JOSEPH  - Sensenbrenner Syndrome


My name is Joseph. I am seven years old. I love playgrounds, amusement parks, bicycling, playing cars, arguing with my siblings, and watching TV. This year I started kindergarten and really enjoy school and learning.  I have a form of dwarfism called Sensenbrenner Syndrome (aka Cranioectodermal Dysplasia or CED).  This is a condition that affects the long bones of the body, specifically the upper arm, upper leg and ribcage.

I was originally misdiagnosed in utero with something called Jeune’s syndrome, which is a close relative to my condition. All of the symptoms didn’t quite fit, and after 6 years of DNA testing, the genetic department was finally able to find the protein anomaly and give a true diagnosis. (My primary diagnosis had been based on clinical observation, mainly based on my bell shaped chest.)  

 Sensenbrenner Syndrome is a ciliopathy (cilia are tiny hair like fingers that are on every cell; they keep the cells moving).   Because of this, many other conditions come along with it. As soon as I was born, I was intubated and placed on a ventilator and later had a tracheostomy performed.  I was born with one functioning kidney and needed a kidney transplant when I was 3 ½.  I also have a condition called Situs Inversus Totalis - my internal organs are basically a mirror image of “typical”; they are all reversed and on the opposite side of where they are expected to be.  This doesn’t cause any health concerns, but it really freaks out doctors, nurses and x-ray technicians when they notice it for the first time!

My ciliary defect has also caused some problems with my eyesight. I have been diagnosed with macular degeneration (usually a disease associated with older typical adults) and night blindness. I still have medical issues to face as I get older.  I am beginning to grow, my chest restriction has not allowed my lungs the room to develop properly, which has resulted in more need for respiratory support and I will need surgical intervention to increase the chest. 

Most people would probably consider my life to be extraordinarily difficult, but I will always be the first to disagree. I have such a love for life and can’t wait to wake each day to find what amazing new experience is in store for me.  While my life is different, it is full and rewarding, I feel well-loved and I am a happy child – I don’t let my physical difficulties slow me down for a minute.   

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