Here are few facts about Bethlem Myopathy:
Information taken from the Genetics Home Reference website: (http://ghr.nlm.nih.gov/condition/bethlem-myopathy)
Bethlem Myopathy is a rare disorder with only 100 families worldwide known to have it; however, I am sure the number is higher than that. Bethlem myopathy is a condition that mainly affects skeletal muscles, which are the muscles used for movement. People with this condition experience progressive muscle weakness and develop joint stiffness (contractures) in their fingers, wrists, elbows, and ankles that can restrict movement. Approximately two-thirds of people with Bethlem myopathy over age 50 will need to use a walker or wheelchair. Bethlem myopathy is estimated to occur in 1 in 200,000 individuals.
Mutations in the COL6A1, COL6A2, and COL6A3 genes cause Bethlem myopathy. These genes each provide instructions for making one component of a protein called type VI collagen. This protein plays an important role in muscle, particularly skeletal muscle.
Type VI collagen makes up part of the extracellular matrix that surrounds muscle cells. The extracellular matrix is an intricate lattice that forms in the space between cells and provides structural support. The extracellular matrix that surrounds muscle cells is necessary for muscle cell stability and growth.
Mutations in the type VI collagen genes that cause Bethlem myopathy result in the formation of abnormal type VI collagen or reduce the amount of type VI collagen that is produced. A decrease in normal type VI collagen disrupts the extracellular matrix surrounding muscle cells, leading to progressive muscle weakness and the other signs and symptoms of Bethlem myopathy.
Abigail's mutation occurs on the COL6A1 gene.
At least 18 mutations in the COL6A1 gene have been found to cause Bethlem myopathy. These mutations result in the production of an abnormal α1(VI) chain. If this abnormal chain is incorporated into type VI collagen, the resulting collagen molecule will not function normally. If the abnormal chain is not incorporated into type VI collagen, but is instead broken down soon after it is made, then not enough α1(VI) chain is available for the formation of type VI collagen. The loss of this chain leads to decreased amounts of this type of collagen.
The most common COL6A1 gene mutation, which is written as IVS14+1G>A, leads to the production of an α1(VI) chain that is missing several protein building blocks (amino acids). The altered chain cannot bind with the other α(VI) chains to form type VI collagen.
In people with Bethlem myopathy, some normal type VI collagen is produced, but not enough to form a strong extracellular matrix. A shortage (deficiency) of normal type VI collagen disrupts the extracellular matrix surrounding muscle cells, leading to muscle weakness and the other signs and symptoms of Bethlem myopathy. Basically, when you and I are producing 100% of the needed Collagen VI in our bodies, Abigail is producing maybe 70% of the needed Collagen VI and this will always be the case as she grows. The percentage will not decrease as she grows, but her body will grow making it harding for her muscles. Mutations in the COL6A1 gene are responsible for most cases of Bethlem myopathy.
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We have had to let the diagnosis soak it for some time now. We have been to a Geneticist who explained everything very clearly for us. We have learned that Abigail's mutation most likely began with her, meaning she did not inherit the disease from either Clayton or I. The doctor explained that prior to conception, the sperm and egg basically undergo multiple scans to ensure that the strongest and healthiest DNA are present and the body checks for mutations. If any mutations are found then basically the egg or sperm are discarded. In Abigail's case, the best way he can explain why she has the disorder and we don't is that during conception their was a sudden change/mutation in either the egg or sperm leading to the mutation in the gene COL6A1.
After several upon several hours of crying and praying, we have come to a realization that our precious baby girl is still the same beautiful, sweet, inspiring Gift from God and we will not waste anymore of our time spent crying or blaming ourselves. God does not make mistakes and we feel so incredibly Blessed that He chose us to be her parents. Our daughter is the most inspiring person we know. She works so hard to overcome obstacles that may seem easy to you or me. She is so proud of herself when she does overcome these obstacles and knows that it is not easy for her. Her personality and her drive is truly inspiring to those who know and love her.
Abigail is currently participating in a research study with the University of Utah. The research study is best described as a case study to see how each type of mutation effects mobility and performance. We hope that by having Abigail involved in this type of study it will help open the doors for new research to finding an effective treatment or hopefully a cure one day.
If you would like to help make a difference, increase awareness, and possibly help researchers find a treatment or cure for Congenital Muscular Dystrophy, please donate to Cure CMD and specify "Collagen VI Research Fund". We greatly appreciate your help even if it is to educate others.
To Dontate to Cure CMD
Thank you and God Bless You!
-The Wisian Family
