Writting by Lori Sames in 2008, just after Hannah's diagnosis.
As we continue to reach out to other GAN families, we are convinced Hannah is likely the youngest child ever diagnosed, just 3 weeks following her 4th birthday. Since GAN is an “orphaned genetic disorder”, very little funding, and thus little research and awareness of this disease has occurred. While the genetic aspect of GAN is known, even within the medical community very little information about the disease GAN is known. Families struggle getting the proper medical care for their children because there is so little information available. Our website www.HannahsHopeFund.org will be the portal for GAN to help families better understand the disease and get better healthcare for their children. Families are no longer alone in this struggle. We are uniting and it is so very comforting. As our website develops, we will have a GAN patient registry so we can assist newly diagnosed families and make certain each new child, or young adult, diagnosed has a mutation analysis performed. It’s important to know what type of mutation your child has because there are drugs currently being developed for other degenerative genetic disorders, that are specific to certain types of mutations, that may treat GAN. We want to be able to contact patients for clinical trials.
We need to raise awareness about this horrible disease so children don’t wait 9 years for a diagnosis like Lottyn, from Georgia. Lottyn is now 10 years old. He is a smart, happy boy who is so very lucky to have Magaen as his mother and strongest advocate. He uses a walker and is starting to have difficulties speaking and swallowing.
Piumi is a beautiful 22 year old woman who was born in Sri Lanka. She is wheelchair bound and can no longer use her computer due to upper extremity paralysis. She lives in Florida with her parents.
We are in contact with a 17 year old boy in New Zealand. He was diagnosed when he was 14 and has spent hundreds of hours searching for treatment.
Joey & Mike - brothers who live in Florida who both have GAN:
I’ve spent hours on the phone with Mary, from Florida, who has 2 grown boys with GAN. Joey is 25 and Mike is 28. These are smart young men who have had almost everything taken from them by this horrible disease. His mother and father have worked tirelessly to get their boys the best equipment throughout the years to keep them as independent as possible, however Mike has lost all upper mobility and can no work at his computer and Joey, who was able to move his chin to drive his wheelchair - can no longer do that as well. Joey & Mike must get assistance for ALL of their activities and daily living. Both boys have tracheotomies because they were having trouble breathing when their vocal cords became paralyzed. Both boys have feeding tubes, because their ability to swallow has been severely compromised. Joey is on a ventilator. This is not the life these young men should be living. They should be at college, have girlfriends, and have dreams…. To view their video story, please click here.
From Roslyn Rasmussen (as told to Lori Sames), mother to Nathan Tessman from Queensland Australia...
Nathan is now 17 will be 18 Feb 2012. He was diagnosed when he was 3 years old with Axonal Neuropathy. I couldn't find much information on it and doctors here are very hard to get info from as it is mighty rare. So when I Googled it there was more info on Giant Axonal Neuropathy reading the symptoms I was amazed that Nathan had all of them except the kinky hair.... he had walked with dropped feet aided with splints at 3 he had a case of chicken pox and at the end of the recovery he found it difficult to keep walking. Always loosing balance and falling over. This is when concern came to find what was wrong. Had nerve and muscle biopsy. He has used a power drive wheelchair since age of 4 mostly out of the home. Out of the chair he was crawling until that got to hard taught self to kneel on skateboard and still to this day that's how he gets around home.
You might have seen Nathan the short clip of documentary that is been shot of his journey in his Passion for music. He has a very deep lor dosis in the spine and it appears to get more obvious as the more he grows. The doctors wanted to operate and insert rods down each side if his spine to keep it straight. I did not agree unless he was in pain and it was causing internal trouble. But thankfully none of this was happening. It would of taken away his physical movement and stopped him from swimming and using the skateboard. Until he is sitting in the chair permanently and its painful then we might do the surgery.
I had come across your site years ago when I was trying to find answers. So am aware of all the research you are trying to do. America seems so more advanced with medical etc than Australia. It has been tough. So lucky that Nath is a kid with great attitude and now has a passion he loves to put his feelings on paper! That's where all of his inspiring songs come from.
Links below are all on Nathans dream... aka MC Wheels!
Christine Marie Grube (Chrissy)
Christine Marie Grube (Chrissy) was born on June 30, 2005 in Dallas, Texas to Steven M. Grube and Katherine Marie Grube.
She was a healthy beautiful baby girl. She grew and developed and learned to walk like most toddlers.
Her spirit is full of grace, her smile and manners are like no other six year old. She has golden brown eyes that will melt your heart. Her head is surrounded by light brown very kinky curly hair. Little did we know that this was a marker of the terrible genetic disease that would later develop in her little body.
Chrissy has a very vivid imagination and loves to play with her two year old little sister Amanda Leigh.
When Chrissy was about three years old she began to walk with a very awkward gait and would fall quite frequently. Her pediatrician thought she would grow out of it. A few months later she lost reflexes in her legs. After 18 months of agonizing testing and many trips to Dallas Children’s Hospital, the earth shattering diagnosis was made. Chirssy was diagnosed with GAN.
Today she can walk short distances and does better with her braces. For other distances she must use her hot pink wheel chair.
CHRISSY WANTS TO LIVE! She is the most loving child I have ever seen. She is full of life and loves her family dearly.
Chrissy’s parents and all of her grandparents are devout Christians and believe with God and medicine she will have a full and happy life.
Written by her paw paw
Her little sister Amanda has also recently been diagnosed with GAN.
Visit Chrissy's Website: www.fightforchrissy.com
I will never forget the day that Amanda was born. It was December 27, 2009 when the phone rang about 5:30 am. It was Steven, he told us he had just put Kathy in an Ambulance headed to the hospital.
Kathy’s water had broken during the night and Steven could not get the car out of the driveway. There was almost two feet of snow in Oklahoma City. This was a record snow fall.
Just like her sister Chrissy, who was diagnosed with GAN on September 1, 2011; Amanda grew and developed normally. We all remarked that she looked so much like her sister with the tight curly hair. At that time we had no idea that this was a marker, a precursor if you will for the terminal disease GAN.
Shortly after Chrissy had received her diagnosis, both the Chrissy and Amanda’s blood was sent to Germany for mapping. Chrissy’s blood came back rather quickly. It took several months for the agonizing answer that we anticipated.
We now knew that the curly hair was a marker for the gene and we dreaded the results. In December of 2011 we accompanied Steven and Kathy and the girls to Disney World. Amanda celebrated her second birthday there. Her father, who has a pediatric infectious disease specialty, could not find any reflexes on that trip in Amanda’s legs.
Exactly six month to the day that Chrissy was diagnosed with GAN we got the blood work back regarding Amanda. She had the same gene mutation as her sister. Even though we suspected that Amanda had the GAN gene, we were devastated by the news. Our hearts were broken; my ulcer went on a rampage.
These two children are the most loving, gentle and respectful children I have ever seen. This weekend as I strapped Amanda in her car seat I said “I love you Amanda” She responded “I love you too Paw Paw”. I broke into tears.
Written by Chrissy and Amanda’s Paw Paw
Visit her sister Chrissy's Website: www.fightforchrissy.com
Araghya Malway was born on January 31st, 2003 and she was a dream came true for her Mom, Indu, and older brother whose one wish was to have a little sister. One thing, which the family used to feel proud about, was Araghya’s kinky/curly hair. Her Mom started calling her GOL (round) because her face, eyes and lips are all round, and above all her hair. Little did they realize her beautiful hair is a trait, symptomatic with GAN.
Araghya as an infant used to cry a lot. At age 1, she started walking. Shortly thereafter, her Mom started noticing her frequent falls. After visits to the pediatrician as well as an orthopedic doctor she was diagnosed with “FLAT FOOT” (a condition that results in a fallen arch with the foot pointed outward). Accepting that diagnosis the family took a deep breath and just enjoyed each moment with a bright, vibrant, loving little Araghya. Until, her 6th birthday party, where her uncle insisted they take her to a neurologist with the result being that Araghya has GAN.
“Yes, I and the entire family, are shattered, badly hurt and disturbed but never ever give up HOPE”, said her Mom, Indu. Araghya is a very confident young girl who helps in the kitchen, rearranges her wardrobe, and sometime does her wash. She loves dancing, singing, shopping & paying bills. Araghya attends a regular school. Is in the 3rd grade but is slow in writing. She started OT and PT 4 years ago, 3-4 times a week but not very regularly since she has long school hours. “One thing which I always kept high is her SPIRIT.” said her Mom.
“Since, I came in touch with HHF and Lori last year, I became hopeful.” Said Indu.
View her video here
Levi is five and attends Kindergarten. His best friends are his brother Shawn, and his cousin Simon. He has a passion for cars- they are his favorite toy. Levi asks lots of questions about Heaven. He’s glad there are no sick people in Heaven, but sometimes worries that he might have to go there without his mom and dad. He really wants to get better and run. He says he, “wants to be a runner like Daddy was.” Levi is friendly and polite, and very patient about having a disease and being different. He has leg braces and uses a walker. At school, he uses a wheel chair for longer distances (like back and forth from the playground) to conserve energy.
His two younger brothers, Aaron and Alan also have GAN.
Follow his blog: www.ganwarriors.blogspot.com
View his youtube video here