The Importance of Early Intervention for Ehlers-Danlos Syndrome

Children with Ehlers-Danlos syndrome have a unique challenge to overcome, even from birth. They may have very loose joints, fragile or stretchy skin that bruises easily, and a history of recurring dislocations.

Their parents are often amazed by this news. It can be a shock or relief that they have a name for their child’s problems or confirm what they suspected.

Early Diagnosis

A precise diagnosis is essential for a patient to understand their prognosis and how to avoid complications. It also helps doctors to plan for future medical care. Those with Ehlers-Danlos syndrome need regular monitoring to ensure their conditions do not worsen over time.

The hereditary condition has many symptoms and signs, including highly loose joints, abnormal scars, and stretchy skin. It can cause pain, fatigue, and a sensitivity to heat and light. Patients are at risk for cardiovascular problems, including scleral rupture and cardiac valvular regurgitation.

Diagnosis of the disorder is based on a physical exam, health history, and specific symptoms such as joint instability, bruising easily, and swollen lymph nodes. Blood tests and X-rays can help confirm the presence of the disease. Genetic testing can determine the type of Ehlers-Danlos syndrome a patient has. Genetic mutations are responsible for the vascular and arthrochalasis forms of Ehlers-Danlos syndrome. At the same time, other causes, such as trauma or surgery, are responsible for classic, fibroelastic, and hypermobile conditions.

Early Intervention

The first eight years are a critical time for development. This is when a child’s brain develops and soaks up information like a sponge. The earlier developmental delays or disabilities are noticed, the easier it is to help a child reach milestones as they grow. This is why early intervention is so necessary.

EI is a statewide system that provides coordinated services to parents of infants and toddlers with disabilities or developmental delays. The goal is to help families and children get the support they need to reach their full potential. A local EI team, which consists of a service coordinator and service providers, works with you in your home and other places where your family spends time to develop a coordinated plan for services.

All children are born with different abilities. Some children will enter the world with a healthy glow and move through developmental milestones as expected, while others may take a little longer to crawl, sit up, talk, or do things for themselves. Parents must recognize any concerns and call their state’s early intervention program to have a specialist look at the child and evaluate whether they have a developmental delay.

Anyone can refer a child to the program, including parents, physicians, other healthcare professionals, social service agencies, childcare providers, and early learning programs. The program is free of charge, and services are provided without regard to mental or physical disability, handicap, race, color, religion, national origin, ancestry, gender, sexual orientation, marital status, or financial resources.

Early Treatment

Ehlers-Danlos syndrome is a family of hereditary collagen disorders. Mutations occur in genes that affect the synthesis and assembly of different types of collagen. This leads to various symptoms, including joint hypermobility and dermal hyperelasticity, atrophic scarring, and fragility of blood vessels. The disorder was reclassified into 13 types based on symptomatic features. The most common types include the hypermobile, classic, vascular, and arthrochalasis subtypes.

While this condition has no cure, treatments can help manage your child’s symptoms. These may include physical therapy, pain management, and avoiding stress on joints. Monitoring your child’s symptoms and scheduling regular doctor visits is essential.

Children with this disorder are prone to fractures, dislocations, and tears. They are also more likely to experience fatigue, postural instability, and a weaker immune system, which can increase the risk of infections.

Early intervention and treatment can help your child live a happy, fulfilling life. It is essential to build a supportive network of family and friends and seek out support groups, online or in person. Ensure your child’s teachers and caregivers know their condition. It is also essential to encourage your child to participate in activities that promote healthy, active lifestyles and to avoid contact sports or weightlifting, which can lead to injury.

Preventative Care

Affected individuals can help prevent injuries and complications by following their doctor’s instructions. This includes educating those around them about their condition so they can support and assist with daily activities. In addition, they should have emergency instructions from their physician to give to EMS workers and Emergency Department physicians in case of sudden pain or discomfort so they can get immediate medical care.

Affected patients should also make sure they have regular checkups with their doctor or nurse practitioner. This will ensure that potential issues can be addressed promptly and more effectively than if the problem is left untreated. This should include screenings for chronic diseases like high blood pressure or diabetes, vaccines for illnesses like influenza and measles, and lifestyle counseling for diet and exercise.

For those with vascular Ehlers-Danlos syndrome, this means getting immediate medical attention for sudden, unexplained pain or swelling of the legs and feet and any chest or abdominal pain. This is because there are risks of artery or organ rupture in this form of the condition. This is especially important in pregnant women who are affected, as the state can lead to rapid and spontaneous uterus rupture. Bleeding problems are also a common complication in this condition, as is easy bruising.