My name is Jill and my son Brandon was diagnosed with Joubert Syndrome at the six months of age. Joubert Syndrome is a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. The disorder is characterized by absence or underdevelopment of the cerebellar vermis and a malformed brain stem (molar tooth sign). The most common features include ataxia (lack of muscle control), hyperpnea (abnormal breathing patterns), sleep apnea, abnormal eye and tongue movements, and hypotonia.

Other malformations such as extra fingers and toes, cleft lip or palate, tongue abnormalities, and seizures may also occur and children may have mild or moderate retardation. Joubert Syndrome is one of the many genetic syndromes associated with syndromic retinitis pigmentosa.

We all have been through many struggles on this journey together with Joubert Syndrome.  Brandon is three years of age right now and can not walk or talk. Sometimes I must admit it does get frustrating trying to figure out his needs.  Despite this, I would not change Brandon at all.  He has changed my life in so many positive ways. He has shown me how to have patience and how to be grateful for what you have. I have accepted him for what he is.  He is so generous and loving. I am grateful for his innocence that he does have. Everyone loves him that meets him.

This is going to be a long road that we are going to go down together but I could not ask for more. Some parents ask for their children to be normal. I would not change my son as he was a gift to me to learn from and cherish forever.

For more information, visit the Joubert Syndrome and Related Disorders Foundation.

3 thoughts on “Despite Major Challanges with Joubert Syndrome, My Son is a Gift to be Cherished”

  1. Gabriel says:

    My daughter’s name is Desiree and she has Joubert syndrome. She just turned 2 last month. It’s definitely been hard and I’ve learned huge amounts.

  2. Marcela oceguera says:

    Hello, my son also has Joubert syndrome and I completely agree with the frustration but joy of having him. I had a question and it’s hard to find anyone who knows about this syndrome since it’s rare and has many variations but was wondering if you ladies could help me. My son is 18 months old and doesn’t sit, crawl or talk but he does babble a lot but lately he’s been really sleepy and sleeping a lot. I was just curious as to if this is something common with Joubert due to them having some central apnea and oxygen assistance at times. Any answer will help thank you so much.

  3. Hi my name is Margie Mason i live in Bloomfield, New Jersey 07093. My daughter Kayla is 16 and was diagnosis with Joubert Syndrome at birth. Please try googling doctors who has the initials of FCVOD behind their name these are doctors who specialuze in Developmental Vision Issue Doctors, good luck lets keep in touch so i may help you. My email address is dont hesitate to reach out , We Are Family

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