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Rhizomelic Chondrodysplasia Punctata
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About Jude
Jude is fighting
Jude goes through therapy daily. He is part of the even rarer group of RCDP who have no chance to live. He was supposed to have hear failure, kidney failure, and brain damage. He is lucky to have none of those his body functions fine besides his lungs.
Meet Jude Sullivan Peters
Jude is now 13 months old. When he was born the doctors told his parents he wouldn't live through infancy. They said the best option for him was to take him home and make him comfy with morphine and hospice.
His first week home was rough. When he ate he would choke and through it all back up. One night he had a seizure and they took him to the hospital. When they got there they found out he had a infection in his lungs because all his milk was draining in his lungs.
The doctors went in and surgically inserted a feeding tube called a button.
Today
Jude is a happy thriving little boy. He is 13 months old and going strong. The only set back is the common cold which could kill him at any time. We love our little warrior. #Judestribe
Clinical Trial
A scientist in Canada has identified one of the most important missing links in the RCDP patients. They are missing the plasmalogens in the cell membrane. They don't promise a full recovery or that it will work at all but they promise hope. If the plasmalogens in the injections work it is most likely to improve respiratory function and possibly extend there lives. They have also figured out that this is the same link missing in Alzheimer patients and may cure them.
Common Features
- Shortening of the proximal long bones
- Dysmorphic face
- Severe growth retardation
- Sometimes spinal
- Neurological
- Cataracts
- Death
- Premature ossification
- Stippling of Vertebrae
How it is Diagnosed
It can be diagnosed during pre-natal exams or after birth. After birth, if they live past utero, they have to go through the following exams.
- Full Skeletal Survey
- Ophthalmologic Exam
- Growth Parameters
- MRI imaging of brain
- Cardiac Ultrasound
- Renal Ultrasound
- Medical Genetic Consultation
Helping of symptoms
There is no known cure for RCDP, but the children can do physical therapy to loosen the joints and remove the cataracts. Although the options to help or cure the symptoms are limited due to the multiple symptoms.
Go Support Jude
RCDP
It is a rare genetic disorder and there are 3 types. Type 1is a mutation of the PEX7 gene and is the most common. Type 2&3 are single enzyme dificiencies in the plasmalogen biosynthesis pathway.