My DNA Results surprise the Medical community

Well after nearly a year my DNA results are finally in with surprising results. Apparently I do have a genetic form of Cerebral Ataxia with gene markers from both parents on two separate genes not yet seen turned on! What is it, what do we call it, what do we do to treat it? All questions that have little to no answer. What I hear is how excited the doctors and researchers are to have me!

My banked DNA has been sent to Baylor University in Texas where a Doctor Fogal will run my junk DNA. I have also been placed in the Humane Genome Sequencing project. I suppose I should feel something other than dismay and contempt, but really what am I to do with this information?

I am disabled. I am a mother of a young daughter, I have in home care and my life is riddled with seizures and depression. I run a small Lavender farm and manufacture bath and body products formulating healing remedies with my aromatherapy licence. It’s rewarding and physical. I have been out of my lab calling in family for help for the past year.

Really, all I want is answers, plans to grow on and a safety net for my daughter. I thank God for every new day and pray for strength. Is this Gods plan? I suppose so. What am I to do with it? I’m waiting for his guidance to show me just what he chooses me to do and from that answer all things will be possible.

For the past 6 years I was told I had MS, from that diagnosis my Lavender Farm was born and a non profit I started to donate to the research of MS. I suppose as a mover and a shaker, it just might be that heading off the unknown territory of Ataxia is my next mission. I am quietly loud, relentlessly strong and extremely stubborn, I enjoy helping others be heard in an arena of support and would be happy to be the voice of such a fight.

Today as I head off to see Dr. Perlman, my neurologist at UCLA, I suddenly feel blessed. Perhaps it’s my blooming optimism or the view from my bedroom window…
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I commend you for being "relentlessly strong and stubborn". Did the doctors identify the gene and have a name for it? My 11-year old daughter has an unknown form of cerebellar ataxia along with optic atrophy. The doctors all say she is a "mystery" and so we will begin the genetic testing process. We're not expecting that there may be a cure but at least it might settle my constant search for what is still unknown. Keep up the optimism. You might look into he Anat Baniel Method at www.anatbanielmethod.com My daughter is just starting sessions with a practitioner, an I am encouraged by this way of "awakening" the brain. Best to You!

Ill find out today what genes are affected. The thing is I don’t think they have any idea what I have aside from a very rare genetic CA… Ill find out more with today’s visit. Blessings to your daughter, and thank you for the lead, ill check it out for sure.

Good Luck and blessings as you continue your strong journey.

It's people like you who do help find a cure for these types of diseases. There are so many unanswered questions about Ataxia. I don't have it myself, but am my husband's caregiver who has it, and am trying to find answers and praying for God's guidance for us too. Your optimism helps us all. Bless you and your daughter and keep you strong.

Blessings to you and Mike as well. If I can remind myself everyday that there are NO mistakes, if we keep faith in our pocket we will always be rich!

Thank you Ed… Chin up right?! It’s funny, my husband just reminded me that it takes 3 full days of lying down complete rest in order to have one good day like today…



EdMoose said:
Good Luck and blessings as you continue your strong journey.

I hope that as a lavender culturist you have a whole list of vitamins, supplements and herbs that you take for neural protection. Not cures but at least protect what you have.

You are so right! Ill discuss this with my Nuero today. I’m so glad you mentioned it.

Keep up your positive attitude and fighting spirit. Why did it take a year to get your DNA results? Docs are looking into doing genetic testing on me to see if my EA2 is actually my problem or some other type of EA. Did insurance pay for your testing? I'm not sure I want to foot the bill of $5000 to $20,000. I am interested to see what you neuro says and the treatment outlined for you now that they have the DNA results.

oh my! I am so interested to find out how this test is different than the gene tests they do for ataxia. Mine is still undiagnosed and I’ve been to see Dr Perlman several times. Did Medicare or insurance pay for it? Why so long to get the results? Do you have brain leisons? My doc in OR says that is the very definition of MS. Without leisions its something else.

Estimada Lavanda, te deseo mucha suerte !! Y para mi buena suerte, significa vivir cada dia con la mayor felicidad que podamos, no desaprovechar este tiempo para amar a mis queridos y abrazarlos con una sonrisa. Tengo una hija maravillosa, una nieta de un año y medio que me llena de ternura, sorpresa y pureza incomparables y una mujer que me quiere mucho. Por ellas soy feliz, a pesar de la Ataxia de origen desconocido que padezco. La vida a sido afortunada para mi y le pido a Dios mas tiempo para seguir disfrutando lo maravilloso que tengo a mi lado. Son el mejor remedio y el mas firme bastòn.

En particular estoy tratado con una excelente profesional y su equipo, y dejo en sus manos lo científico. No tengo demasiado interés en saber que clase de Ataxia tengo, luego de realizarme muchísimos exámenes, estudios y punsiones he decidido dejar lo medico a los médicos y yo poner toda la energía en el carácter, la fuerza y la sonrisa,

Que estén bien, cariños. Alberto.


Gracias Alberto. Si lees mi respuesta a esta entrada verás que este es mi decisión también. Vive la vida al máximo.
Alberto Casellas said:

Estimada Lavanda, te deseo mucha suerte !! Y para mi buena suerte, significa vivir cada dia con la mayor felicidad que podamos, no desaprovechar este tiempo para amar a mis queridos y abrazarlos con una sonrisa. Tengo una hija maravillosa, una nieta de un año y medio que me llena de ternura, sorpresa y pureza incomparables y una mujer que me quiere mucho. Por ellas soy feliz, a pesar de la Ataxia de origen desconocido que padezco. La vida a sido afortunada para mi y le pido a Dios mas tiempo para seguir disfrutando lo maravilloso que tengo a mi lado. Son el mejor remedio y el mas firme bastòn.

En particular estoy tratado con una excelente profesional y su equipo, y dejo en sus manos lo científico. No tengo demasiado interés en saber que clase de Ataxia tengo, luego de realizarme muchísimos exámenes, estudios y punsiones he decidido dejar lo medico a los médicos y yo poner toda la energía en el carácter, la fuerza y la sonrisa,

Que estén bien, cariños. Alberto.

Estimado, la lei y vì que pensamos de la misma manera. De todas maneras voy a mi neuróloga cada dos meses y sigo sus indicaciones y muy importante: hago ejercicios para la Ataxia con un kinesiologo dos veces por semana y

me hace bien. Es la única "medicación" efectiva, te la recomiendo. Un abrazo.



Deo's Page said:


Gracias Alberto. Si lees mi respuesta a esta entrada verás que este es mi decisión también. Vive la vida al máximo.
Alberto Casellas said:

Estimada Lavanda, te deseo mucha suerte !! Y para mi buena suerte, significa vivir cada dia con la mayor felicidad que podamos, no desaprovechar este tiempo para amar a mis queridos y abrazarlos con una sonrisa. Tengo una hija maravillosa, una nieta de un año y medio que me llena de ternura, sorpresa y pureza incomparables y una mujer que me quiere mucho. Por ellas soy feliz, a pesar de la Ataxia de origen desconocido que padezco. La vida a sido afortunada para mi y le pido a Dios mas tiempo para seguir disfrutando lo maravilloso que tengo a mi lado. Son el mejor remedio y el mas firme bastòn.

En particular estoy tratado con una excelente profesional y su equipo, y dejo en sus manos lo científico. No tengo demasiado interés en saber que clase de Ataxia tengo, luego de realizarme muchísimos exámenes, estudios y punsiones he decidido dejar lo medico a los médicos y yo poner toda la energía en el carácter, la fuerza y la sonrisa,

Que estén bien, cariños. Alberto.

CoQ10, Curcumin, Resveratrol, Chelated Copper, N-Acetyl Cysteine, Flax Seed Oil, Acetyl-L-Carnitine, Alpha Lipoic Acid, Folic Acid, Fish Oil. Magnesium Malate with Malic Acid



EdMoose said:
I hope that as a lavender culturist you have a whole list of vitamins, supplements and herbs that you take for neural protection. Not cures but at least protect what you have.

I believe I understand how you must be feeling. I have felt the same way.

I get a lot of "fascinating" comments from my doctors, but no real solutions. I'm not a lab rat, I'm a person who has a life. I want my life back.

I share your faith. I know God has not forgotten me. He didn't suddenly say, "Yikes, I just don't know what to do with that girl Julie!". :-) He still loves me and is still on the throne. I live each day as it comes. It's very difficult to make plans.

Take care

Same here. I love what you wrote Julie. God Bless.

Julie Hahn said:

I believe I understand how you must be feeling. I have felt the same way.

I get a lot of "fascinating" comments from my doctors, but no real solutions. I'm not a lab rat, I'm a person who has a life. I want my life back.

I share your faith. I know God has not forgotten me. He didn't suddenly say, "Yikes, I just don't know what to do with that girl Julie!". :-) He still loves me and is still on the throne. I live each day as it comes. It's very difficult to make plans.

Take care

Fuerza !!!! Estamos vivos, honremos la vida!!!

Julie Hahn said:

Creo que entiendo lo que debes estar sintiendo. He sentido lo mismo.

Tengo un montón de comentarios "fascinantes" de mis médicos, pero no soluciones reales. No soy una rata de laboratorio, soy una persona que tiene una vida. Quiero recuperar mi vida.

Comparto su fe. Sé que Dios no se ha olvidado de mí. No dijo de repente, "¡Ay, yo simplemente no saben qué hacer con esa chica Julie". :-) Todavía me ama y está todavía en el trono. Vivo cada día como viene. Es muy difícil hacer planes.

Tener cuidado

I admire your positive attitude Lavander. I suffer from Episodic Ataxia type 2. These days I am in the “normal mode”.