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Joubert Syndrome

Updated on September 9, 2017

Let me introduce you to my oldest granddaughter Brookelyn.

She was diagnosed with a rare genetic condition called Joubert syndrome at age one.

This was slowly discovered through a process of developmental issues, diagnostic tests, and other various symptoms that will later be described.

Joubert Syndrome is a genetic disorder caused by Autosomal recession meaning that it is a genetic mutation carried by both parents. Cystic Fibrosis is an autosomal recessive condition for an example of a disorder more people are familiar with.

The rarity of this condition is 1 in every 100,000 births.

It is characterized by cerebellar and brain stem malformation. The cerebellar and brain stem are areas of the brain that control things such as muscle coordination and tone, balance, motor skills, language functions, cognitive development, breathing, and regulating emotional functions and responses.

Each case is different depending on how severe the underdevelopment is, Also what parts of the cerebellum or brain stem are affected makes it difficult to determine the potentials. From a spiritual perspective, I was grateful that they gave no boundaries for her potentials.

My daughter Kari and and granddaughter Brookie
My daughter Kari and and granddaughter Brookie

When Brookie was born she appeared to be healthy and normal other than being a bit large from all her mama's spectacular care. My daughter and I both noticed that she didn't look at peoples faces. I know babies can't see well at that age but I have had three children of my own and know how babies look at you and this was different.

At about four months age I noticed that when I would hold Brookie under her arms facing me and place her feet on my lap she didn't try to push up with her legs like most babies do.

Shortly after this my daughter called me and was concerned because Brookies eyes were darting back and forth and her head was involuntarily bobbing back and forth. It also appeared that her pupils were rotating.

Eye conditions associated with Jouberts:

  • Occular motor apraxia - difficulty controlling eye movements. Sometimes they have to move their head instead of their eyes to see something.
  • Nystagmus - involuntary eye movement.

Daddy watching over Brookie
Daddy watching over Brookie

She was sent to Mayo Clinic in Rochester Minnesota and examined by a neurologist. She went through a variety of tests to rule out seizure type activity and the neurologist explained that if things had not improved by one years old they could to an MRI. and take a look at her brain development.

In the mean time Brookie began to develop breathing problems while sleeping and would stop breathing periodically and was set up with a monitor that would set off an alarm if her breathing had stopped.

At one year old the MRI was done and the results of the scan revealed the brain malformation and she was diagnosed with Joubert which is continuing to be substantiated by genetic testing as further research develops.

Another affect of Joubert is speech development.

We have found it extremely helpful to teach her how to sign. I just so happened to purchase a sign language video for babies called "My Baby Can Talk" at a garage sale and she absolutely loved it. She began to sign immediately. The first one she decided to learn was "cookie" of course. We later began purchasing "Signing Time" videos when she had grown out of the baby ones.

We have also been doing this with the other grandgirls and discovering that signing is a useful tool for children of all kinds that have not yet learned to communicate their needs verbally. I highly recommend them for anyone. They are entertaining and educational.

Some people have been concerned that children won't want to learn to talk if they sign but research says otherwise. They also have discovered that kids who learned to sign score slightly higher academically later on not to mention that it cuts down on tantrums greatly when a child can tell you what they want.

Brookelyn is now learning words along with her signs and tells Domma (Grandma) to top (stop) when she talks too much. She is now walking on her own with the aid of ankle braces. And she tattles on the littler ones by saying "Domma Domma Domma" in her most urgent voice and points toward whatever they shouldn't be doing. The breathing problems ended within the first year.

Brook Learning to Walk at Age Four

We choose to believe that our God is the same yesterday, today, and forever. The Jesus who came and ministered healing to the sick and disabled still does so today.

His name is YHWH Rophe (The Lord who heals) as first mentioned in the scriptures in...

...I am the LORD who heals
— Exodus 15:26

I have been doing a little studying in the area of epigenetics that explains how all the genetic material necessary for wholeness is formed within us when we are being developed.

For You formed my inward parts;
You covered me in my mother’s womb.
I will praise You, for I am fearfully and wonderfully made;
Marvelous are Your works,
And that my soul knows very well.
My frame was not hidden from You,
When I was made in secret,
And skillfully wrought in the lowest parts of the earth.
Your eyes saw my substance, being yet unformed.
And in Your book they all were written,
The days fashioned for me,
When as yet there were none of them.
— Psalm 139:13-16

In other words, He created us perfectly. The study of Epigenetics (epi meaning the system operating over the genetic material) theorizes that genetic weaknesses and mishaps are the results of genetic material being bound and in the dark and unable to express itself by a faulty system operating above and around it. Darkness and binding were the exact phrases used by secular scientist to describe this.

It is shortly after Jesus reveals Himself as the light of the world In John chapters 8 during the feast of tabernacles ( a festival which involved the illumination of the temple) that He heals a man that is born blind.

I couldn't help but wonder that when Jesus healed and loosed people from their infirmities if the epigenetic material was responding to the very same voice that declared in the beginning, when the earth was dark and without form,"Let there be light...and light was"

In conclusion, may it be noted that we do pray scripture over Brookelyn as we believe that the Word of God is alive, that the Word of God is powerful, that Jesus is the Word Himself and that at the entrance of His Word light is given? (Psalm 119:30) We believe that it is God's will for wholeness for all people and He truly is the Light of the World.

God Bless!




Brookelyn is seven now (2014) and making great strides and improving greatly on all fronts.

The gene not functioning properly in Brookelyn's case was just recently discovered. Its genetic address is c5orf42 and labeled as type 17. It is the rarest of the variations in this already rare disorder so there isn't much information out there about her particular type. She has been the subject of at least one known medical journal article in reference to how her eyes function in association with her condition and most likely will be the subject of more studies and observations due to the rarity of her type.

It is also now understood that Joubert syndrome is part of a family of syndromes called Ciliopathies, meaning necessary communication goes missing between the cell and its protein instructions because the cell is either missing its cilia antennae or it isn't working properly. These cilia allow for the motility of a cell referring to its ability to move fluid or move fluid through itself where the proteins necessary for function and development would normally be instructing those very processes. What a wonder her name is Brook referring to conduits of moving water. an inspiration to continue to pray.

Ciliopathies include other genetic conditions such as Polycystic Kidney disease and Cystic Fibrosis.

Kari Jobe ~ Healer

© 2011 Tamarajo


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    • Tamarajo profile imageAUTHOR


      3 years ago

      Hello Li123, thank you so much for responding! I am amazed to connect with someone who is dealing with someone with the same kind of joubert.

      Brookelyn still has the occular motor apraxia but has learned to adapt in different ways by moving her head sometimes rather than her eyes. She has one that does its own thing occasionally.

      Thus far there has been no kidney involvement.

      She is in main stream first grade and just discovering her limitations academically. She is reading writing but does struggle with math and has some small and large motor function issues.

      Presently her greatest struggles involve emotional processing. She slips into hysteria, rages, and fearfulness quite easily and its quite a challenge sometimes figuring out ways to help her through these loops she goes into. She is thus far surrounded by many supportive adults that are an encouragement to her and im amazed how helpful other kids are who recognize she needs different responses than are typical with most.

      I sincerely would like to keep in contact with you. We may be a help to one another. My personal email is

      God bless you for stopping by!

    • profile image


      3 years ago

      Hello. Your granddaughter is absolutely gorgeous! She is so beautiful, and I loved to read the update on her! I've read about her before too, about 6 months ago. My little son, 10 months, have joubert syndrom. And he has the same wrong gene as Brookelyn!! C5orf42! He has had exactely the same issues as Brookelyn, but not the breating problems, except of that its exactely the same! How is it with the occular motor apraxia on the eyes? Does she have it still? My little one is struggling with this, and I pray it will get better. We also pray a lot for him, and I love your prayer for Brookelyn, it was beautiful, theese good thoughts helps. Im sure! I has been a tough time, but i try to stay strong, have to for mye little one. It makes me so happy to read about your beautiful granddaughter Brookelyn and her progress! Has she had problems with kidneys? And how's school for her? And making friends? Take care, and I will pray for her tonight! And pleace keep updating on from Norway. she will be in my prayers!

    • Tamarajo profile imageAUTHOR


      4 years ago

      Brookelyn continues to make great progress. She is seven now and attends mainstream Kindergarten presently. She no longer needs the supportive braces walks and talks fluently. Speech articulation, Balance and large motor skills are being worked on. Our biggest challenge currently is her emotional processing which is exhibited much like the sensitivities of autism.

      Thank you ologsinquito for your visit comment and well wishes.

    • ologsinquito profile image


      4 years ago from USA

      Your granddaughter is a beautiful little girl. I hope and pray she continues to make steady progress.

    • Tamarajo profile imageAUTHOR


      6 years ago

      Hi Rolly,

      I have never heard of Cerebella Ataxia but anything involving the cerebellum I know full well. I am assuming it is a degenerative condition beings it is progressing. I am sorry to hear this.

      I am pleased to report that Brookelyn is doing well. She is 5 now and attending main stream pre-school for a second year to develop her emotional development, social skills and speech, Her academics are good and she is now just wearing the ankle braces rather than the ones that go up the calf.

      God is good and we look to Him for continued progress.

      Blessed by the visit and hugs from Minnesota

    • Rolly A Chabot profile image

      Rolly A Chabot 

      6 years ago from Alberta Canada

      Hi Tamarajo ... it is so sad to hear of this with a child. Thank you for your faith and we will commit to prayer.

      I have a friend who has Cerebella Ataxia. which has progressed over the past few years. The future does not look promising as he lost his mother and brother to the same.

      Thank you for sharing fro your heart...

      Hugs from Canada

    • profile image


      7 years ago


      That is WONDERFUL NEWS!!!!

      Very happy for you and your family!


    • Tamarajo profile imageAUTHOR


      7 years ago

      femmeflashpoint, and to all others still following the article. Exiting news! Brookelyn will be 5 years old next month and just went through some developmental testing at the Mayo Clinic that determined that academically she is caught up with her age group whereas a year ago she was two years behind. Praise God!

      Thank you for reading and for joining your faith.

    • profile image


      7 years ago


      In simple words, I loved this hub and I thank you for sharing it. I found myself praying for your little princess while I read the story.

      Your testimony of faith touched my heart.


    • Tamarajo profile imageAUTHOR


      7 years ago

      Thank you Minnesota Twin for your confidence in our great God to do what is impossible for us.

      Thank you for stopping by and your complimentary comment.

    • Minnetonka Twin profile image

      Linda Rogers 

      7 years ago from Minnesota

      Thanks for sharing your granddaughter's story with us Tamarajo. She is such a beautiful little girl and I can tell from your story that she gets so much love. Anything is possible with God-Keep up those prayers for Brookie-God hears them:-)

    • ladyjojo profile image


      7 years ago

      you are most welcome my dear. I owe you some visits because you do check me out ;)

      I believe you she looks like a sweetheart.

      God be with you

    • Tamarajo profile imageAUTHOR


      7 years ago

      Thank you ladyjojo. We do have faith and Brookie is quite the joy.

      Thank you for your thoughtfulness in your visit and comment.

    • ladyjojo profile image


      7 years ago

      Tamara i am so sorry to hear this about your daughter. Have faith in God he can heal her. She doesn't look sick at all, very nice child. I will remember her in my prayers.


      Take courage

    • Tamarajo profile imageAUTHOR


      7 years ago

      Hello vocalcoach, Yes I do believe that God answers prayers and heals too. I am glad you were touched by the Brookies story.

      I had never heard of the condition either until they told us what it was.

      I am so sorry that you lost your son to cancer. That is heart breaking. I pray that your heart would be healed as well.

      I was blessed to have you stop by. Thank you for commenting.

    • vocalcoach profile image

      Audrey Hunt 

      7 years ago from Idyllwild Ca.

      God answers prayers and He heals. I believe this with all my heart. I am so touched by this, a most beautiful article about your beloved grandchild, beautiful Brookelyn. This is a new disease to me - I have learned a great deal here. Your great faith will continue to wrap its arms around you and see you through this. When I lost my beautiful son, Todd, to cancer, I thought my burden would never be lifted. And though my heart still has a hole in it, with God's help, I manage to carry on.

      You are a light, and huge strenght to your precious family. And you are a light to me, as well. God bless you with peace and with His eternal love.

    • Tamarajo profile imageAUTHOR


      7 years ago

      Hello DeBorrah, Thank you for your complimentary comment. I agree as well about the Lord's plan for her life and the agreement with His Word the truth and light of her life. Amen to His desire for wholeness for all people.

      I was blessed by your visit and encouragement today.

    • DeBorrah K. Ogans profile image

      DeBorrah K Ogans 

      7 years ago

      Tamarajo, BEAUTIFUL! Brookelyn is so precious she is just adorable! Her face reflects that she is being showered with Love & care! How creative you are in helping her to find ways to express herself! Be Encouraged knowing that the Lord has a plan for her life. As you well stated: “We pray scripture over Brookelyn as we believe that the Word of God is a alive, that the Word of God is powerful, that Yeshua is the Word Himself and that at the entrance of His Word light is given. (Psalm 119:30) We believe that it is God's will for wholeness for all people.” PRAISE GOD! May our heavenly FATHER touch her in the NAME of JESUS in the way that only HE can! May HIS purpose for her life be fulfilled...

      No DOUBT she is a gift from the LORD! As you all continue to love on her she will continue to blossom! The strength she receives from all the love and support you give her will help her navigate through this maze of life! She is a rare gem! Thank you for sharing this beautiful story! It is a reminder to us all that we should not take life for granted… In HIS Love, Grace, Joy, Peace & Blessings! GOD BLESS YOU!

    • Tamarajo profile imageAUTHOR


      7 years ago

      Thank you Suejanet for your visit comment and most of all your prayers.

    • suejanet profile image


      7 years ago

      I am praying for her.

    • Tamarajo profile imageAUTHOR


      7 years ago

      CS Thank you. I am glad you liked the hub. The scriptures used in the prayer I believe I was led to. I'm not from the name and claim bunch but I believe in faith in Him and the promises He reveals and gives to us.

      I thank you for your support and encouragement in your comment. Blessed to have you stop by.

    • profile image


      7 years ago

      this is a beautiful hub. I believe praying Scripture over others is powerful because God's word is truly living and powerful. May all your prayer's be answered and your heart cry for your granddaughter be heard and God bless you


    • Tamarajo profile imageAUTHOR


      7 years ago

      thanks no body, I agree. Brookie is doing marvelously well and we give God all the glory.

      Thanks for stopping by and letting me share with you her condition and our faith in the goodness of God

      Blessed as always to have you stop by.

    • no body profile image

      Robert E Smith 

      7 years ago from Rochester, New York

      I never has heard of this condition. It will be so good to get home where these bodies will not face such horrible maladies. Great hub.

    • Tamarajo profile imageAUTHOR


      7 years ago

      His daughter thank you for your agreement with who God is and what He can do. I look forward to the testimony as well.

      Blessed by your visit.

    • Tamarajo profile imageAUTHOR


      7 years ago

      drpastorcarlotta thank you for your complimentary comment and prayers. I appreciate your visit and blessing.

    • profile image

      His daughter 

      7 years ago

      What a beautiful grand daughter, Tamarajo and so sorry to hear of this. On the other hand, indeed we serve Jehovah Rophe and His greatness and power we pray will be a testimony in your sweet little one. Thanks for sharing this with us.

    • drpastorcarlotta profile image

      Pastor Dr. Carlotta Boles 

      7 years ago from BREAKOUT MINISTRIES, INC. KC

      Your granddaughter is so pretty! My prayers are with your whole family!! But I know God has plans for her life! God Bless!!!

    • RTalloni profile image


      7 years ago from the short journey

      How thankful we are for faith in what God has revealed to us and the hope His Word gives for life beyond this temporary world!

      When I saw your comment I couldn't help but come back to see Brookie again. She's just adorable. Love that pic of your daughter holding her well-cared for baby! Tell her howdy from the southeast. :)

    • Tamarajo profile imageAUTHOR


      7 years ago

      Hello R. Talloni,

      Wow what a splendid addition to the hub. You are correct there is no greater privilege than to the ability and possibility to seek Him in prayer for our need.

      I don't try too hard to figure things out as to the whys and wherefores. generally speaking, I have concluded that through one man sin and sickness entered the world where darkness once ruled and reigned but by one man's righteousness (the Lord Jesus - light of the world) we are given the opportunity to be made right and whole as your comment stated.

      I love the quote you left "Though the wrong seems oft so strong, God is the Ruler yet."...Amen!! sums it all up nicely.

      I also especially enjoyed the hymn. So beautiful and fitting.

      Thank you so much for taking the time to share all of this with me and those who read also thank you for your encouragement and support.

      Blessed by your visit today.

    • RTalloni profile image


      7 years ago from the short journey

      So glad you posted this hub. Not only is it interesting to learn about Joubert Syndrome, but it is a tremendous blessing to hear of Brookie's personal experience and her family's faith.

      There is no greater privilege than to have a relationship with God through His Son the Lord Jesus according to His Word, and then to be able to pray with humble and contrite hearts God's Word back to Him as believers. When we are in deep waters there is no hope or comfort that can compare.

      We will not always understand what happens in this fallen world, nor the way He is working in those circumstances, but He asks us to continue to trust His faithfulness to His Word come what may. One of the mysteries of having faith in what He says is that as we cling to Him during times of trial and testing He strengthens our faith, and gives us more confidence to pray. In spite of what others may say, in spite of the enemy's whispers that we should give up on some situations because they are hopeless, the Lord ministers His Word to His people.

      There is a hymn with a line that states: "Though the wrong seems oft so strong, God is the Ruler yet."

      I hope we will hear more of how God works in Brookie's life and how He increases your faith and uses her precious life. I pray with you for her, and I pray that your faith will not fail, but that God will protect it and strengthen it, as He continues to walk through the fire of this circumstance with you and your family.

      I know this is already a long reply, but if you don't mind I would like to include the following about the life of a believer. (If you feel that you should deny this because of the length I understand completely):

      A Prayer, by John Newton

      Come, my soul, thy suit prepare:

      Jesus loves to answer prayer;

      He himself has bid thee pray,

      Therefore will not say thee nay.

      Thou art coming to a King,

      Large petitions with thee bring;

      For his grace and power are such,

      None can ever ask too much.

      With my burden I begin:

      Lord, remove this load of sin;

      Let thy blood, for sinners spilt,

      Set my conscience free from guilt.

      Lord, I come to thee for rest,

      Take possession of my breast;

      There thy blood-bo't right maintain,

      And without a rival reign.

      While I am a pilgrim here,

      Let thy love my spirit cheer;

      As my Guide, my Guard, my Friend,

      Lead me to my journey's end.

      Show me what I have to do,

      Every hour my strength renew:

      Let me live a life of faith,

      Let me die thy people's death.

    • Tamarajo profile imageAUTHOR


      7 years ago

      Thank you Betty. Glad you were inspired. I so appreciate your visit, comment and most of all your prayers.

      Be blessed.

    • Betty Johansen profile image

      Betty Johansen 

      7 years ago

      Tamarajo, Your granddaugher is adorable and your prayer is beautiful, inspiring! I will add my prayers to all those who are praying for your sweet Brookie.

    • Tamarajo profile imageAUTHOR


      7 years ago

      You have such a big heart Voice.

      I loved your testimony of how God spared your sister. Sometimes our tears can be a prayer too. I have a hub on that "Song in your Tears" I am sure God has received each one of them. I believe that when we pray with a sincere heart He can move heaven and earth.

      I also believe prayer to be partnering with God in what He wills anyways.

      Hallelujah for your sisters well being and thank you so much for praying for our Brookie. How blessed she is to have you all praying for her.

      I appreciate so much your visit and testimonial comment and most of all your prayers.

      Bless you Voice : )

    • profile image

      VOICE CIW 

      7 years ago

      Sister Tamarajo, Thank you for sharing this hub, and I say this because it touches my soul, this beautiful granddaughter of yours going through this situation. You better believe I will be on my knees praying for her. Your prayer is such a beautiful prayer, you keep on praying, the Bible says prayer changes things. God is a healer, I know from experience, my favorite sister was diagnosed 10 years ago with a rare disease, and he gave her six months to live. My sister told me, because she knew how I felt about her, when I was alone in the shower, I cried so hard. God told me to stop crying and pray, which I did, God told me what I needed to do, and what she needed to do for 30 days. After 30 days she started healing, she was given six months to live by the doctor, and here it is ten years later and she is living a normal life. She still has the symtoms of that disease, but through the Grace of God she is Healed. I know God is a Healer, so whatever God lay on your heart for you to do, do it. My prayers are with you and your family, stay blessed, I love you in the Lord.

    • Tamarajo profile imageAUTHOR


      7 years ago

      Hello Faithful daughter. The revelation of the epi-genetics still astounds me. I was watching a PBS special about it and these biblical parallels and realities were brought forth that were astounding. I really would like to know even more. These secular scientists even referred to our genetic code as "the book of life"

      God's intelligence is so phenomenal. He never ceases to amaze me.

      Thank you for your visit, complimentary comment and your vote.

      I so appreciate the your prayer and agreement that He is willing and able to shine light in the darkness and loose what is bound.

      Bless you Faithful daughter.

    • Tamarajo profile imageAUTHOR


      7 years ago

      Hi Debradoo, I am very grateful for your spiritual support encouragement, and agreement.

      Thank you for visiting and your helpful comment.

      Amen! : )

      Bless you sister

    • Faithful Daughter profile image

      Evie Lopez 

      7 years ago from Sunny Florida

      First, I want to say that your little granddaughter, Brookelyn, is the image of an angel. May God bless her! You honor her greatly with this hub while shedding light on yet another unnecessary illness in this world.

      I found your words very profound and full of Godly wisdom when you said...

      "I couldn't help but wonder that when Yeshua healed and loosed people from their infirmities if the epi-genetic material was responding to the very same voice that declared in the beginning, when the earth was dark and without form,"Let there be light...and light was"

      You may have tapped into a divine mystery here with your words that only God can reveal.

      I pray that Yeshua will heal Brookelyn and make her whole. May He speak the Words that only He can utter for her completeness. Let His light shine where there is darkness, and may He loosen what is bound.

      Thanks for sharing this inspiring story. Voted up beautiful.

    • Debradoo profile image


      7 years ago from Cocoa, Florida

      Your granddaughter is a beautiful little lady. Just beautiful. This is one of the best blogs I have ever had the pleasure to read. You keep the facts straight about what is going on in your granddaughters life. But, you also make it a point to let others know that you and your family know that God's Word can change the facts and it is His Will that we are made whole. Lovely. It is such an honor to call you a sister. And I want you to know that there is another who agrees with the profession you have made over your granddaughter's life. Thank You Lord that it is You who wants the best for Brookelyn and You have provided the Words to speak over her life. Darkness be gone from this little girl because you have no rights and no permission to come into her life. In the authority of Jesus I speak to the darkness.


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