Grace Aikin, 5, watches wrestling event held in her honor to raise funds for her wheelchair. Photo Credit: Angela Shoemaker, Special to CJ. Photo Source: http://www.courier-journal.com/story/news/local/2017/08/14/river-valley-wrestling-goes-mat-help-girl-get-new-wheelchair-disney-world-trip/564101001/
In Jeffersonville, Indiana, Brandon Ables organized a wrestling event for Grace Aikin, a 5-year old girl who has obtained two rare genetic diseases. The event aimed to raise funds for Grace’s new wheelchair which will be brought for a Disney World trip. The young girl actively cheered for Brandon since the great wrestler holds her chance to have a new wheelchair. The 5-year-old Grace has these rare genetic diseases called Ehlers-Danlos syndrome and congenital myopathy.
What is Ehlers-Danlos Syndrome?
Ehlers-Danlos syndrome is considered to be a group of disorders where connective tissues that support the skin, blood vessels, and other body organs are affected. The US Department of Health and Human Services stated that this condition is caused by the abnormalities of structure or production of collagen. According to the Genetics Home Reference, originally, there were more than ten types of Ehlers-Danlos syndrome. But in 1997, researchers reduced the number of types to six. These are the classical, hypermobility, vascular, kyphoscoliosis, arthrochalasis, and dermatosparaxis.
NHS Choices mentioned two main ways of inheriting this disease. These are autosomal dominant inheritance (which is for hypermobility, classical, and vascular types of Ehlers-Danlos syndrome) and the autosomal recessive inheritance (which is for the kyphoscoliosis type). The former has to with a faulty gene, which is passed on by one parent. There is a 50% risk that each of a couple’s children may acquire the condition. The latter is passed on by both parents. Unlike the former, this kind of inheritance has only 25% of the risk for a couple’s children to obtain this kind of syndrome.
1. The Classical type (Types I and II): Patients with this type of EDS have extremely stretchable skin. They also have soft and highly sensitive skin.
2. The Hypermobility type (Type III): This type affects both large and small joints. Thus, joint dislocations are commonly experienced by patients with this type of EDS. Aside from that, they also have a very soft skin which easily gets bruises and pain.
3. The Vascular Type (Type IV): Aside from having highly fragile and sensitive skin, patients with this type of EDS have fragile intestines and uterus, too. That is why they are prone to ruptures. Generally, people with vascular EDS are short, have thin scalp and nose, large eyes, and lobeless ears.
4. The Kyphoscoliosis type (Type VIA): Patients with kyphoscoliosis are considered to have severe hypotonia and even scoliosis at birth. They also have a slow motor development. As for their physical aspect, they are identified as having long slender fingers and sunken or protruding chest.
5. The Arthrochalasia type (Types VIIA and VIIB): This type of Ehlers-Danlos syndrome causes patients to have severe joint hypermobility and congenital hip dislocation. Just like the other types, fragile, stretchable skin and hypotonia are also present in this type.
6. The Dermatosparaxis type (Type VIIC): Patients with dermatosparaxis have extremely sensitive, saggy, redundant skin that effortlessly acquires a lot of bruises.
- Some types of Ehlers-Danlos syndrome, namely the vascular, kyphoscoliosis, and the classical types can be very serious and complicated because of the sudden ruptures in the blood vessels.
- The ruptures may cause internal bleeding, stroke, and shock.
- The ruptures in the intestine and uterus for pregnant women may occur, too.
- The kyphoscoliosis type may cause a problem due to severe curvature of the patient’s spine which may interfere the patient’s breathing.
So far, there hasn’t been any known cure or treatment for EDS. However, there may be some treatment done to prevent any serious complications or at least to relieve the signs and symptoms of this syndrome. Moreover, due to the different types of Ehlers-Danlos syndrome, the given treatment may also differ.
What is Congenital Myopathy?
The National Institute of Neurological Disorders and Stroke defines congenital myopathy as a group of muscle disorders that occur from birth or infancy. This kind of disease is considered to be as one of the top neuromuscular disorders in the world. This is believed to affect 6 of 100,000 live births every year. Congenital myopathy may be diagnosed while the mother is still pregnant and is undergoing prenatal services. It can also be diagnosed by muscle pathology where there is a visualization of a muscle biopsy on the cellular level.
Just like Ehlers-Danlos syndrome, congenital myopathy comes in different types, too. These are nemaline, myotubular, centronuclear, central core disease, and others.
1. Nemaline: This is one of the most common types of congenital myopathy where a patient has muscle weakness in the face, arms, and legs. The patient may have scoliosis, too.
2. Myotubular: This type of congenital myopathy only occurs in males, which also causes them to have weak muscles and breathing problems.
3. Centronuclear: Similar to other congenital myopathy types, centronuclear is also characterized by weak muscles in the face, arms, legs, and eye muscles. Heavy breathing is also experienced by the patients.
4. Central Core Disease: This kind of congenital myopathy usually occurs in infancy or early childhood. Patients with central core disease also have weak muscles and developmental problems. Aside from that, they may develop some reactions to general anesthesia which is considerably life-threatening since it causes some rise in the blood temperature, muscular breakdown, and other reactions.
5. Multiminicore Disease: This type of congenital myopathy is said to have several subtypes. Aside from that, the same common characteristics of other types are also present in this type just like muscle weakness, heavy breathing, and scoliosis.
- Due to heavy breathing and problems with feeding or swallowing, an infant may die.
- Muscle weakness may also cause other skeletal problems like scoliosis, reduced mobility joints, and other problems.
Unfortunately, out of many types of congenital myopathy, only one type has the effective treatment. This is the central core disease type. However, there are still supportive treatments available like physical, occupational, or speech therapy. These treatments are mainly done to strengthen a patient's’ muscles and bones. As for survival, it is determined by the level of respiratory muscle insufficiency.
Generally, Ehlers-Danlos Syndrome and congenital myopathy patients are considerably have sensitive bones and skin. In other words, both genetic diseases have some similarities. Hence, there are a lot of important things to consider in order to avoid minor accidents that may lead to larger problems. Of course, this doesn’t completely stop the patients from moving or do regular things. But after all, being more extra careful and caring can help the patients a lot. Currently, there aren’t any successful or effective treatment for both genetic diseases. Patients generally have to rely on some therapy that may help them ease their body or joint pains.
However, just like Grace Aikin, other patients may also savor the best things in life despite having these rare genetic diseases. Apparently, they will be able to do those things with the full support coming from their families. What’s more, there are also a lot of people, though they may not be related to the patients, who are still willing to lend their helping hands to the patients. The professional wrestler Brandon “The Big Ticket” Ables is just one of many good-hearted people. He was able to contribute to Grace’s happiness through his wrestling efforts.