About Byron and Juvenile Huntington’s Disease
Byron was a perfectly normal child growing up. It was only recently (2010) that we began to see a decline in his abilities. When we began seeing these changes, we started seeing doctors and ultimately (a year and a half later) came to his diagnosis. He was diagnosed with Juvenile Huntington’s Disease on September 8, 2011, the day before his sisters 13th birthday. It is a devastating diagnosis and changed the course of our family’s lives, forever.
Juvenile Huntington’s disease (JHD) is a neurodegenerative brain disease for which there is no treatment and no cure. There is up to a ten year life expectancy from onset of symptoms and is in all cases, fatal. Byron’s symptoms began (hard to trace back specifically) but we believe around the age of 15 to 16 and he is now 22 yrs old. JHD is slowly robbing him of his ability to walk, talk, ride, think and perform everyday activities. In the beginning, JHD causes many symptoms, but Byron’s specific symptoms at onset were/are rigidity and stiffness of the muscles and tendons, dementia and decline in cognitive function. The rigidity will progress in severity making it difficult to maintain mobility and will in time, cause him to be bound to a wheelchair and eventually will become completely immobile and bed ridden. As of February 2016, Byron is no longer mobile and is confined to a wheel chair. The dementia has and will continue to make it very difficult for him to communicate his emotions, needs, desires and fears. The neurological damage that this disease causes results in severe movement disorders, severe dementia and not only attacks his mobility, reasoning skills and his speech, but will also affect his ability to swallow, making it difficult for him to eat which will result in eating through a feeding tube and could ultimately result to his demise via malnutrition unless internal organs fail first. Well, that is what the statistics and the DOCTORS say.....GOD has authority in our lives....so, we are still praying and BELIEVING in his complete healing. We are a Christian family who believe in the power of prayer and we know that there is NOTHING that our God cannot heal. We thank Jesus not only for our blessings, but even for our trials. We know that ALL things work together for the good, for those who love God. ~Romans 8:28
His decline is becoming more and more aggressive. He now is unable to care for himself at all. He can no longer walk and his speech is difficult to understand. He is also showing a rather dramatic decline in his cognitive abilities. Some days he is much sharper than others but the delay in his thought process is notable. If you see Byron and he doesn't respond, please do not take offense as his brain is unable to recognize many people he once loved and knew. His reaction time in responding is very slow, but if you REALLY get his attention, he will interact and have a conversation with you.
The one thing he hasn't lost is his FAITH and his ability to remain humorous and witty!
Byron is still RIDING & occasionally competing!!! And since we lost Pearl Darlin due to a tragic accident, we now have ROXY the RESCUE ANGEL!! Roxy was rescued from a Texas Kill Pen. She was due to ship to Mexico for slaughter at 1pm. I saw her at 12:24pm and went over to her and the look in her eye told me all I needed to know. She came home with me that very moment. Once I got her home, I cleaned her up and let her rest that night with plenty of hay, some feed and fresh water. The next day I introduced her to Byron....and that is where this beautiful story began <3 Byron competed on ROXY at the ELITE barrel race in Waco, Tx in 2015! WHAT A BLESSING! Roxy is an amazing animal...an ANGEL sent to us in the form of a 4 legged equine.....Video here:
We have witnessed an outpouring of love and support for Byron that we never imagined possible. He is touching more and more hearts every day and likewise, you are touching ours. Our prayer is that we obey and fulfill God's purpose for Byron and our family with this excruciating disease. We know that ALL THINGS WORK TOGETHER FOR THE GOOD FOR THOSE WHO LOVE GOD! ~Romans 9:28 -- And we TRUST God's plan.
For those of you who are interested in the ‘technical’ talk:
At autopsy, individuals who have died from juvenile HD show an even more widespread pattern of brain degeneration than that seen in adult-onset HD. As in the adult form, there is severe degeneration of the caudate and putamen. The caudate and the putamen are responsible for regulating voluntary movement, and it is thought that damage to these parts of the brain is responsible for many of the movement problems — especially the chorea — that individuals with HD experience.
A characteristic that is seen more often in the juvenile form than in the adult form is extreme gliosis of the globus pallidus. Gliosis is excess growth of what are called spider cells — cells that normally provide supporting and protective tissue for nerve cells. Some individuals with adult-onset HD experience rigidity (instead of chorea), and case studies of several of these individuals have also shown damage to the globus pallidus. Hence, it is thought that abnormality of the globus pallidus may be responsible for the rigidity seen in juvenile HD.
Analysis of juvenile HD brains shows damage to many areas, but the pattern of damage is not consistent between individuals. Loss of neurons in the Purkinje cells and granule cells of the cerebellum is often seen in the juvenile but not the adult form. Other areas of damage sometimes include the dentate nucleus, hippocampus, and neocortex. The dentate nucleus is responsible for rapid movements and the hippocampus deals with the transfer of information from short-term to long-term memory. The neocortex constitutes about 85% of the brain’s total mass, and it is believed to be responsible for higher cognitive functions, such as language and memories. It is currently not known how damage to these areas of the brain manifests itself as symptoms in people with juvenile HD.
Huntington disease is a movement disorder that can develop in individuals who are as young as toddlers on up to 80 years old. For those who develop symptoms before the age of 20, it is recognized as “Juvenile Huntington disease”(JHD). The symptoms of JHD are different than that of adult HD. Some of the first symptoms are listed below:
• Slowness and stiffness
• Awkwardness in walking
• Frequent falls
• Difficulty in speaking
• Choking and drooling
• Behavioral/personality changes
• Slowness in responding
• Variable/poor school performance
• Difficulty in learning new information
Genetic Basis of Juvenile HD
Huntington disease is caused by a genetic mutation called “CAG repeat expansion” – this type of mutation was unknown until the 1990’s. The letters CAG refer to three of four nucleotides which make up DNA – A (adenine), T (thymine), G (guanine), C (cytosine). In HD, there is an expanded CAG repeat in a gene on chromosome 4. The function of this chromosome is unknown. Juvenile HD involved a large number of repeats – 50, 60 or more. This form of HD is more likely to be seen in the children of an HD father than that of HD mothers.