One Child's Story with Horizontal Gaze Palsy with Progressive Scoliosis
God's Greatest Gifts
This site is dedicated to my daughter Makenna. Makenna was born on March 27th, 2007. Her short life has been filled with challenging obstacles. All of which she has met with an amazing spirit and attitude. All of which would cause me to crumble if I had to endure them myself. She is my inspiration. She makes me a better person. And she illustrates an amazing Strength Of Spirit.
Our time/energy have been mostly spent on diagnosing and treating her underlying genetic condition - HGPPS. That's Horizontal Gaze Palsy with Progressive Scoliosis. There are only about 80 documented cases in the world. Statistically, that makes her about 1 in 85 million. She is clearly unique. We have had multiple issues come up; most of which do not directly relate to her genetic condition...making her that much more unique.
What I have learned, and what I hope to share, is the insight into helping your children. It is a daunting task to try to diagnose something that your doctor hasn't even heard of. And to be fair, there is no way that a regular doctor, going about his/her regular business, could possible know about every obscure condition in the world.
I know first hand that asking the right questions at the right time can make all the difference in the world. And it's hard not to become jaded ~ to not trust anything you are told. The secret lies in critical analysis - of both the person delivering the information and the information itself. When you have a child that does not fall in ordinary categories, it is easy to feel abandoned and left to fend for yourself. And finding the answers isn't always easy. I don't know the answers neccessary to provide the best treatment for my daughter. But I do know that her future depends on me seeking out the experts in whatever field neccessary to help me find those answers. And that is what we did. That is our story. A story of perserverance. A story of hope. A story of Strength of Spirit.
Here is a list of the issues Makenna has dealt with. It seems overwhelming to think of it this way, but I hope her story and experience can help someone else along the way...
Neurological:
* Congenital Cranial Dysinnervation Disorder
* Horizontal Gaze Palsy
(Horizontal gaze palsy is sometimes misdiagnosed as sixth nerve palsy, Duane Syndrome or Mobius Syndrome)
Vision:
* Strabismus
* Astigmatism
Orthopedic:
* Torticolis
* Progressive Infantile Scoliosis
* Gait issues
Speech:
* PSNE (phoneme specific nasal emission)
Allergy:
* Seasonal allergies : weed pollen, tree pollen, grass pollen
* Peanut allergy
Other:
* Chronic ear infections. Tubes 02/08
Ultimately, I will have each of these issues linked to a page with information and links. In the time being, if you have any question please do not hesitate to contact me.
Our time/energy have been mostly spent on diagnosing and treating her underlying genetic condition - HGPPS. That's Horizontal Gaze Palsy with Progressive Scoliosis. There are only about 80 documented cases in the world. Statistically, that makes her about 1 in 85 million. She is clearly unique. We have had multiple issues come up; most of which do not directly relate to her genetic condition...making her that much more unique.
What I have learned, and what I hope to share, is the insight into helping your children. It is a daunting task to try to diagnose something that your doctor hasn't even heard of. And to be fair, there is no way that a regular doctor, going about his/her regular business, could possible know about every obscure condition in the world.
I know first hand that asking the right questions at the right time can make all the difference in the world. And it's hard not to become jaded ~ to not trust anything you are told. The secret lies in critical analysis - of both the person delivering the information and the information itself. When you have a child that does not fall in ordinary categories, it is easy to feel abandoned and left to fend for yourself. And finding the answers isn't always easy. I don't know the answers neccessary to provide the best treatment for my daughter. But I do know that her future depends on me seeking out the experts in whatever field neccessary to help me find those answers. And that is what we did. That is our story. A story of perserverance. A story of hope. A story of Strength of Spirit.
Here is a list of the issues Makenna has dealt with. It seems overwhelming to think of it this way, but I hope her story and experience can help someone else along the way...
Neurological:
* Congenital Cranial Dysinnervation Disorder
* Horizontal Gaze Palsy
(Horizontal gaze palsy is sometimes misdiagnosed as sixth nerve palsy, Duane Syndrome or Mobius Syndrome)
Vision:
* Strabismus
* Astigmatism
Orthopedic:
* Torticolis
* Progressive Infantile Scoliosis
* Gait issues
Speech:
* PSNE (phoneme specific nasal emission)
Allergy:
* Seasonal allergies : weed pollen, tree pollen, grass pollen
* Peanut allergy
Other:
* Chronic ear infections. Tubes 02/08
Ultimately, I will have each of these issues linked to a page with information and links. In the time being, if you have any question please do not hesitate to contact me.