My son, Macka, has Joubert Syndrome, a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. He has irregular breathing and occasional apnea, which requires extra oxygen. He has a high palate and poor sucking due to his low muscle tone.  He also aspirates some of his food into his lungs.

Macka had a “button” (G-tube) placed in his stomach to feed him for weeks.  Previously, he was fed via a nasogastric tube (NG). His low muscle tone means he requires daily physiotherapy to strengthen him. At 10 months, he was unable to support his head and could not roll over. He is developmentally delayed and also has nystagmus of the eyes.

Regardless of everything he may not be able to do, we love him dearly and focus on what he can do. Even his smallest achievements, like reaching out for things and touching them make us happy.

We will give Macka the best life possible regardless of Joubert Syndrome. He deserves that and so does every other person with a rare disease.

5 thoughts on “Despite Macka’s Challenges From Joubert Syndrome His Parents are Committed to Giving Him The Best Life Possible”

  1. He sounds so much like our Sam! He is about to turn 31. They only gave us the diagnosis of Joubert’s recently. (I guess it didn’t exist when Sam was a baby). I just want to say how very, very much we enjoy being Sam’s parents. Of course it’s been gut-wrenching hard from time to time, but it’s been full of joy every day. We send our very best wishes to you all!!!!

  2. Kerri Belladonna says:

    Macka is my grandson and he is God,s very special blessing to our family.He is now 19 months old.He its starting to roll.He can now near weight on his legs for a short time and he can grasp things and roll his toy truck backwards and forwards.When people meet my grandson they fall in love with him.He is now managing well without extra oxygen.He its our little miracle boy.

  3. Debb says:

    Our son Clancie also has Jouberts, he is now 17 yrs old. Although he did not crawl until he was 4 or walk until he was 8, he has scuba dived in Asia; ridden horses in India and done amazing things in his life. There is nothing Macka will not be able to achieve,even if he does it in a different style to other people. Good luck to you all

  4. phylicia says:

    My daughter was born on 03 23 2015, we’ve been in the nicu since she was born they’ve given us a diagnosis of joubert syndrome although they are unable to help us figure out her apnea spells or help us stabilize her enough to go home it breaks my heart and I’ve Been looking for someone to understand how I feel not knowing and maybe give me some advice or anything really
    Thanks

  5. Hira says:

    Hi Debb , I read your child has jubert . How is he doing now ? My son is 15 months and has been diagnosed with jubert syndrome.

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