There are at least 15 different types of dysautonomia, conditions characterized by autonomic nervous system malfunction. Normally, the autonomic nervous system plays a role in digestion, temperature control, blood pressure and heart rate management, and pupil dilation (among other processes). When the autonomic nervous system isn’t functioning properly, the body cannot properly regulate itself.
While dysautonomia affects an estimated 70 million people across the globe, its smaller subsets can be considered rare. For example, Menachem Samuels tells WFSB that his son Meier, who has familial dysautonomia, is one of just 290 people with that specific condition. Familial dysautonomia has caused Meier to face many health difficulties. At ten years old, he has already had two heart attacks and a serious, life-threatening infection.
Managing the infection required removing a large portion of skin from the boy’s body. However, his condition means that his body was not healing properly. Without healing, the wound could have killed Meier. But Dr. Hughes of Connecticut Children’s Hospital would not let that happen.
Given Meier’s health situation, treatment options were limited. Dr. Hughes decided to innovate. How about growing new skin to transplant onto the body? He began searching for options and found a company that, using samples of Meier’s skin, would grow transplantable skin in a laboratory setting.
Within just three weeks, Meier underwent a skin transplant. As of the time of this article, doctors say that he is recovering well.
About Familial Dysautonomia
Normally, the ELP1 gene plays a role in creating a protein that helps your nervous system develop properly. But ELP1 mutations can inhibit this production, causing the characteristic issues associated with familial dysautonomia. This rare genetic disorder disrupts how cells develop (and survive) within the autonomic nervous system. Familial dysautonomia primarily affects individuals of Ashkenazi Jewish descent.
Symptoms of familial dysautonomia typically appear during infancy and early childhood, such as:
- Hypotonia (low/weak muscle tone)
- Feeding difficulties
- Dysphagia (difficulty swallowing)
- Poor growth
- Lack of tears while crying
- Difficulty maintaining body temperature
- Breath-holding behavior
- Abnormal heart rhythms
- Seizures
- Vomiting episodes
- Frequent lung infections
- Developmental delays
- Bed-wetting
- Reduced sensitivity to pain and temperature changes
- Scoliosis
This is not an exhaustive list of symptoms. Right now, there are no treatments specifically designed for people with this condition. Instead, doctors will try to manage symptoms through chest physiotherapy, antibiotics, pacemakers, CPAPs, eye drops, IV fluids, and occupational or physical therapy. However, more research is being done to evaluate targeted therapies.
Learn more about familial dysautonomia here.
