Yes, EDS can skip a generation. Families affected by a dominantly inherited EDS are more likely to have EDS members of each generation of the family tree who are affected by this condition.
Various members of the same family may be affected by the same dominant ailment in different ways, and the severity of the disease will vary from person to person. Someone can inherit a changed gene in some prevalent disorders and not show any or all of the condition’s symptoms. This is especially true with autosomal dominant diseases. Following that, this individual may become pregnant with an infected kid, leading to the appearance that the sickness has skipped an entire generation. Rather than a generation being skipped, the mutated gene was present for only a few generations, but because the signs of the disease were weak or went unnoticed, it appeared to have skipped a generation.
What is a genetic counselor?
In addition to providing information about genetic diseases and how they are inherited, genetic counselors collaborate closely with clinical geneticists to offer the best possible care. Clinical geneticists are experts in the diagnosis of genetic disorders. When a genetic issue is discovered in a family, a genetic counselor’s responsibility is to assist the family in better comprehending the ramifications of such a discovery. This includes helping the family understand who else in the family may be in danger and how the family inherits the ailment. They may also be able to assist the family in making decisions about the condition’s management. There are tests available for specific forms of EDS that can be performed during pregnancy, and some people may prefer to consider these options with their genetic counselor. Families can make their own educated decisions regarding pregnancy and other topics by investigating the various choices accessible to them.
What are some of the potential advantages of genetic counseling?
Families that have received genetic counseling indicate that it has assisted them in the following ways:
- Gaining a better grasp of the problem in the family.
- Help your family members make decisions about their medical condition.
- Inform those members of the family who may be at risk of developing the condition about it.
- Improve the management of the family’s health status by taking action.
- Inform health providers, teachers, social workers, and other professionals about their needs.
Different people may respond to genetic information differently, depending on their own personal views, past experiences, and genetic information. Genomic counselors can assist individuals in making medical, ethical, and social decisions in the context of their own unique medical, moral, and social circumstances.
What exactly happens during a visit to the Genetics Clinic?
Although practice varies amongst genetic centers, a genetics consultation will often run between 30 and 45 minutes. It could include the following elements:
- Addressing any specific issues you may have
- Taking time to talk about your medical history
- Creating a family tree can provide vital information that can aid in the determination of a definitive diagnosis and the identification of other members of the family who may be at risk.
As a result, it is beneficial to gather as much information as possible from your relatives before your appointment and bring this information with you when you arrive.
A physical examination will be performed if you or your kid is suspected of having EDS, and you will be required to attend your visit. A doctor will examine your skin for scars and determine how elastic and supple your skin is by rubbing it together. S/he will also review your joints to determine how flexible they are. With your permission, the doctor may want to take some photographs of your skin and joints to aid in his or her diagnosis. These will become part of your medical record and, if necessary, will allow the doctor to consult with colleagues about your condition and treatment.
The doctor will then determine the likelihood that EDS will be present in your family due to this assessment. If you have a first-time appointment, it may not be feasible to decide on this for sure. There are many different varieties of EDS, and it is sometimes necessary to do further tests before a diagnosis can be determined. As a result, it is conceivable that you will be required to visit the Genetics Clinic more than once in the future.
If and when a perfect diagnosis is made, the counselor/doctor will go into greater depth about the situation and attempt to make the facts more understandable in ordinary language.
What is the genetic basis of the Ehlers-Danlos syndromes?
There are several different forms of EDS, but they are all caused by a mutation in a gene at the cellular level. Genes are the one-of-a-kind instructions that allow each of us to be uniquely ourselves. There are hundreds of thousands of individual genes, each of which carries a unique instruction set. When a gene is altered in any manner, it can develop a genetic disorder. There are millions of cells in the body, and genes may be found in every cell of the body, making up the whole.
The human genome has around 25,000 distinct genes, with each of us possessing two copies of each gene. Each parent passes one copy of their genes to their children. Every one of our genes is passed down to our children when we have children. Various genetic diseases, including the multiple forms of EDS, have different inheritance patterns, explained in detail below. A recessive pattern is inherited by some forms of EDS, whereas others pass down a dominant pattern.
Dominant inheritance genetic disorders are caused by a change in one copy of a particular gene pair passed down from generation to generation. The changed copy of the gene has taken over as the dominant copy of the gene from the other, standard copy of the gene. Having a standard copy of the gene does not guarantee that the disease will not manifest itself.
Every child born to parents who are carriers of an altered gene for a dominant condition is 50 percent (or one in two) more likely than the other children affected by that condition. The risk is the same for every offspring, regardless of their gender, i.e., 50 percent.
Families affected by a dominantly inherited genetic disorder are more likely than not to have members of each generation of the family tree who are affected by the condition. Various members of the same family may be affected by the same dominant ailment in different ways, and the severity of the disease will vary from person to person. Someone can inherit a changed gene in some dominant disorders and not show any or all of the symptoms of the disease. This is especially true with autosomal prevalent disorders. Following that, this individual may become pregnant with an infected kid, leading to the appearance that the sickness has skipped an entire generation. Rather than a generation being skipped, the mutated gene was present for only a few generations, but because the signs of the sickness were weak or went unnoticed, it may have looked to be missing a generation.
When a dominant disorder occurs in a single family member, the condition may result from a novel gene change (i.e., a change that emerges for the first time) in either the egg or the sperm used to create that kid. In certain instances, that youngster may go on to have an impact on other children in the future. Types of Ehlers Danlos that are known to be dominantly inherited include classical, vascular, and arthrochalasia are all classified as such. Although the specific etiology of hypermobile EDS is unknown, it appears to be inherited in a dominant pattern in most families.
Genetic diseases passed down by recessive inheritance are produced by gene changes in BOTH copies of a specific gene pair rather than just one. As a result of the lack of a functional copy of the gene, the body is deprived of a particular instruction. The hereditary disorder will impact the individual.
A copy of each gene pair in the egg or sperm is passed down from parent to kid when they have offspring. This occurs purely at random; we have no control over the genes we pass on to our children or grandchildren. If both parents have the same mutated recessive gene, then each child they have will have the following characteristics:
- Having a 25% (1 in 4) probability of inheriting the mutated gene from both parents and subsequently becoming afflicted with a disease
- There is a 50 % chance of receiving one copy of the changed gene and one copy of the normally functioning gene. If this occurs, they are considered to be healthy carriers.
- 25% (1 in 4) probability of inheriting two regular copies of the gene, resulting in the absence of any associated disorders.
Parents who are closely connected, such as first cousins, are more likely to have recessive diseases than other parents. Due to the increased possibility of them being carriers of the same genetic disease, they are grouped.
Kyphoscoliotic dysplasia and dermatosparaxis are two examples of EDS that are recessively inherited.
For some people, it may be able to perform a blood test to identify the precise gene alteration in their family. A genetic test is a term used to describe this type of blood test. Genetic testing findings may not be available for several months after they are obtained, and genetic testing may not be practicable in all cases. Genetic testing can help to validate a diagnosis given by a clinician based on physical examination and other factors. Occasionally, a genetic test can be performed to predict whether or not a person will acquire EDS. It can also be used throughout pregnancy to assess whether or not the condition will afflict the baby. Because these tests may have significant ramifications for other family members, additional genetic counseling sessions may be necessary. The goal of these extra sessions is to provide you with additional time to explore these problems and discuss them in greater depth to better assist you in making judgments about whether or not a genetic test is appropriate for you.
The EDS National Diagnostic Service
It is not always easy to diagnose EDS, and a national specialized EDS service has been established to assist in circumstances when a diagnosis is suspected but difficult to prove. For EDS patients in whom the diagnosis is suspected but not confirmed due to one of the following reasons, NHS hospital physicians can refer them to a specialist clinic for further evaluation.
- The condition’s signs and symptoms are out of the ordinary.
- Genetic testing does not confirm the suspected disease.
- Some signs and symptoms correspond to more than one form of EDS.
- Additionally, some other indications and symptoms are not characteristic of EDS.
Referrals are also accepted when a patient or a doctor seeks a second opinion on a medical issue. Referrals from your primary care physician are not accepted.
The Ehlers-Danlos syndromes are a group of inherited disorders. This means that if someone in the family has been diagnosed with EDS, other family members may be at risk of developing the condition or passing it on to their offspring. Clinical genetics is the NHS service that can provide you with additional information about this. A dermatologist, rheumatologist, or clinical geneticist can diagnose EDS, as can any other medical professional. Even if another discipline of medicine has diagnosed you, you may benefit from seeing a geneticist at your local clinical genetics service.
Clinical genetics departments are located in 25 regional centers around the country. Some, but not all, of the centers have outreach clinics in the surrounding communities. Referrals are typically made either through your primary care physician or through a hospital doctor. Clinical geneticists are specialists in the field of genetics who operate in a clinical genetics service. Clinical genetics services also employ genetic counselors.