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 Fybrosis 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 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.
When Brookie was born she appeared to be healthy and normal other than being a bit large from all her mamas 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 3 children of my own and know how babies look at you and this was different.
At about four months of 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.
Brook Learning to Walk at Age Four
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.
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 epi-genetics 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 Epi-genetics (epi meaning the system operating over the genetic material) theorizes that genetic weaknesses and mishaps are the result 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 (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 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"
In conclusion may it be noted that we do pray scripture over Brookelyn as we believe that the Word of God is a 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 the Light of the World.
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 it's protein instructions because the cell is either missing it's cilia antennae or it isn't working properly. This cilia allows 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