All potential parents when planning a pregnancy, there are hopes and fears. In patients with EB can be a lot of questions about children’s health, and the effects of pregnancy on their health of women during pregnancy and childbirth. Subsequent years of development and growth of children and should not be ignored. The purpose of this booklet is to answer some of the questions that arise, and the proposed information is based on the experience gained while working with patients with EB. Additional information is taken from an article written by physicians caring for patients with EB worldwide.
Before pregnancy. Can I have children?
Many young people with severe forms of EB are not aware that they have the ability to have children. At the moment, we know women with dystrophic (DBE) or with non-lethal border epidermolysis bullosa (NPBE), who gave birth to healthy children, and that they continue to grow successfully. In addition, we know the men with dystrophic or NPBE who became fathers and participate in the education of their children.
Will my child BE?
In order to provide information about the risk that your child will inherit the BE, it is important to have an accurate diagnosis with clear information on how you inherited EB. If you are not sure, you should make an appointment with your counselor to find out this information or carry out the necessary tests. In the UK, you can refer to the therapist to be sent to the hospital of St. Thomas in London or central hospital, where there are specialists in the diagnosis and treatment of EB for you may also be helpful to read the book “Genetics BE” written by prof. Irwin McLean. It is available online Debra international.
If you have a hereditary variant of dystrophic EB
In this case, there is usually no family history, and both of your parents are “healthy carriers” mutation leading to the disease.
There is a very slight chance that your child will inherit the EB. In an article on this topic, this risk is considered to be “insignificant.” This is because we all inherit one gene for each of our features (for each feature) such as hair color, eye color and skin structure from each of our parents. ‘At the recessive state, both copies of the gene must be defective in order that the patient was disease’. This means that although you can only propagate the gene structure of the skin, which struck BE, your partner should also be inherited gene mutation with EB that the child was born sick. It is considered that the boundary for the recessive level of EB in the general population is about 1: 350. This gives the overall risk of 1: 700, you will have a child with EB. From the standpoint of genetics, this risk is nevertheless considered as a minimum. At the same time, we recognize that it is essential for many expectant parents, defeat BE is the result of very small risk.
If you have a recessive variant NPBE?
The situation is the same as previously described, however borderline NPBE for the general population is estimated to be 1: 300, so your risk of the child with EB approximately equal to 1: 600.
Nevertheless, it is important to note that if your parent has a close relative, such as a cousin or family there is the case of BE, you should consult an expert before pregnancy, because the risk of having a child with EB is greatly increased.
Can I inspect my partner to find out whether he / she is a carrier?
Unfortunately, the current state of science does not allow to test carriers with dystrophic epidermolysis bullosa. It is caused by a genetic mutation causing dystrophic epidermolysis bullosa, detected in the gene encoding the protein collagen VII. Collagen VII – a key component of anchoring fibrils, which are attached to the underlying dermis epidermis. The gene encoding collagen VII (carries genetic information) – one of the largest known to us, and mutations (errors) that cause recessive dystrophic EB (RDBE) can be found in many parts of the gene. Therefore, although we can identify your mutation and tell whether your partner is a carrier of the gene, we can not say that he is not a carrier other mutations also cause RDBE. Search the entire gene encoding collagen VII – a very difficult task, “like a needle in a haystack” without actual presentation looks like a needle! However, you may like the fact that children are usually born healthy in a family where one parent recessive EB. The situation is very similar to NPBE and as a general rule carrier testing is offered.
Parents can use prenatal tests, if one of them recessive form of EB?
Prenatal fetal tests in this situation are not offered because the risk of BE the child is very small. 1: 700 and 1 RDBE: 600 (approximately) while NPBE. Other studies suggest that even in the most capable hands, there is a possibility that prenatal tests provoke miscarriage. Chance of miscarriage completely healthy fetus higher risk of having a child with EB. The risk of miscarriage (higher than expected) with chorionic villus sample (taken a little piece of early placenta) is about 3% (5) and, therefore, much greater than the risk of having a child with EB. Therefore, many doctors believe unethical offer this procedure in a given situation.
If you have a dominant BE
These are the cases of dominant dystrophic EB (DDBE) and EB simplex (EBS)
In this situation, common familial cases of BE with the disease in one parent. Carrier state with no dominant state, and the risk of having a child with EB 1: 2 (50%) with each pregnancy. Sometimes a child may be born with a healthy family DDBE healthy parents, this is known as a new mutation, ie, there is a new mutation with dominant inheritance. In this rare case, you have the risk of transmission to your child every EB 1: 2 (50%). In general, the dominant form of EB occur easier than recessive.
Is it possible to conduct prenatal studies when the dominant BE?
As noted earlier, if you have the dominant form of EB EB transfer your chances your children 1: 2 with each pregnancy. If you or your partner a simple BE Dowling Meara (Dowling-Meara), you will be offered prenatal diagnosis, as children with this disorder are born with very severe lesions. In other forms of dominant BE prenatal diagnosis is offered because the dominant forms, although a lot of trouble and is delivered to patients, however does not actually still heavy. You also need to take into account the potential threat of the loss of the child’s health, due to prenatal diagnosis procedure. The frequency of miscarriages during the prenatal diagnosis is about 3%.
What is pre-implantation diagnosis?
Pre-implantation diagnosis is proposed in some centers to identify genetic abnormalities in the embryo. For this test, the egg is fertilized outside the woman’s body (in vitro fertilization or IVF) and one cell is taken from each of the developing embryo to establish injury. A small number of healthy embryos are then transferred into the uterus. In some centers, this test is carried out in situations where severe recessive forms of EB – option of any pregnancy and birth of a child with EB earlier. This test is particularly indicated for couples, where the end of the pregnancy for whatever reason it may be unfavorable. However, this is not an easy choice, because IVF technology is imperfect and difficult to become pregnant.
We must bear in mind that one form of EB can not go to another, as genetic mutations that cause every form of EB, different. This is usually the reason that the dominant form of EB in a patient with a lesion similar to the parents.
Preparing for pregnancy
If you are a woman suffering from EB, and are planning to have a baby, you should bring the state of your body in the best possible shape before pregnancy. There are many general recommendations on this, including some tips therapists who offer prenatal care. The midwife may also give recommendations. If there are any questions in this situation with respect to BE, please ask your therapist to contact a dermatologist. BE relative, you should speak to your doctor and have a blood test, in particular to avoid anemia. It is also very important to check not affect whether the medicines that you are taking on the child. You may need to stop taking certain drugs and find a replacement for the other. In addition, if you have a form of EB, in which difficult meal, you may need to consult a nutritionist to optimize your diet. If your hands or BE amazed you have contractions, probably you should plan the operation before pregnancy. This is due to the fact that the care of the child may require a certain percentage of dexterity, and also because you can not agree to surgery until your child is small. It is also reasonable to talk to your team of specialists in BE and your consultant before pregnancy in order to resolve any specific health issues that you need to know. If you do not have such an opportunity before pregnancy, you should definitely talk to a team of experts in BE and your GP as soon as you become aware of the pregnancy.
Advice on preparing for pregnancy can be obtained from:
• Your therapist
• Your team specialists in BE
• family planning clinics
• sites on the Internet, including www.fpa.org.uk, www.bupa.co.uk, www.bbc.co.uk/parenting
Planning care for your child
This is a question about which parents often do not think before pregnancy. Nevertheless, in the context of EB makes sense to pay attention to it before pregnancy. Caring for a small child exhausting and requires a lot of physical stress. This tension increases as the child grows: changing diapers, preparing bottles, buckle belts in the car, the disclosure of children’s folding chairs on wheels and carriages. If you have the opportunity, it makes sense to spend time with friends who have young children to visualize the problem and possible problems that may arise. Our experience applies to most parents with severe forms of EB, in particular those who have a hand injury, they need extra help for childcare. This may be the other parent, your own family or social services assistance. It is also important to ask your specialist if he can connect with other parents, who also has EB. While the problems are not likely to confound you, if you decide to have children, yet you should have information that is behind this.
Many adults with severe forms of EB are often concerned about their ability to live a normal sexual life. With the proper approach is not a problem.
Important for women foreplay and preparing for greater allocation of lubrication in the vagina before sexual intercourse (more fun). Women said that they prefer a relaxed posture compared with the missionary, which gives them more control over the situation. The additional use of the lubricator (grease) can also be useful, although you should make sure it is not a spermicide, when you want to get pregnant. You should also tell your partner that can cause problems for your skin. If you have irregular periods, it is possible that you have no ovulation and hence you will not be able to get pregnant. In this situation, you should discuss this issue with your gynecologist.
For men. We talked to men suffering BE who are sexually active with minor problems. Just like women, you should openly discuss with your partner what you can tolerate and what not. In general, the bubble on the penis is not a problem; Nevertheless, the use of a condom (buy condoms with increased grease) will help, if there was a bubble, then he heals. The condom is worn on the penis during erection, it is absolutely smooth and soft and will not cause damage. Before removing the condom wait until the erection. Your specialist for EB can discuss with you the problem of sexual life. If at the time of arrival at the clinic you will need a confidential conversation, do not hesitate to make such a request.
Pregnant women with EB
Iron deficiency anemia is a common problem during pregnancy in some forms of EB. If you are planning your pregnancy, it is important that you spend a blood test for hemoglobin and iron levels before pregnancy to assign corrective treatment. In most cases, be an iron supplement in tablet or syrup. Injections of iron preparations are used in severe forms of EB. It may be useful to visit a nutritionist to discuss the possibility of inclusion in the diet products – sources of iron. Blood tests will be conducted regularly during your pregnancy. This can be a problem for some women with bad veins. In such cases it is necessary to turn to a team of specialists BE and obstetricians. At the same time, as far as we know, this is not a major problem because of the increase in blood volume during pregnancy to facilitate blood collection procedure.
Some literature and oral there is a mixed picture of the process of improving the skin in some women and a slight deterioration in others. Some women feel that pregnancy is beneficial for their skin. The skin condition improves in most women, and this may be due to the fact that the skin is more hydrated during pregnancy and due to the effect of increased blood volume you may receive blush – so-called “pregnant glow.” You can help wearing loose clothing made from natural materials such as cotton or linen, as many women feel warmer during pregnancy, particularly in recent months. Stretching the skin of the abdomen is particularly problematic in women with EB nevertheless great harm in this. The use of thick, soft skin moisturizer is aimed at reducing stretch marks and certainly creates additional comfort. For most women with severe forms of EB overweight in early pregnancy is not an additional risk factor. However, in women with less severe forms of EB excess weight can contribute to increased formation of bubbles during pregnancy. This is due to the fact that the layer of adipose tissue is increased sweating, thereby biasing the frequent friction and skin. To facilitate the above phenomena can use corn flour or baby powder in sweating areas. This reduces the skin friction. You can also purchase Mepilex Lite dressings or Mepilex Transfer (Molnycke) from your specialist EB. There are excellent foaming coating with a layer of silicone to facilitate their removal from the skin, they can be used in areas of friction as a special pad, reducing the risk of damage by friction. Chest also becomes heavier during pregnancy, and some soreness may occur under the breast. If you can wear a bra, it must maintain good breast with minimal friction. Bras with wide straps, such as sports, may be helpful (to apply to the Marks and Spencer). Then you may need a special bra for feeding.
We all know that constipation – a particular problem in patients with BE and one of the most unpleasant phenomena during pregnancy. This is partly due to the pregnancy hormone profile, thereby reducing the rate of passage of food through the digestive tract, while later stages – the pressure of the fetus on the rectum. Oral iron per os may further influence it. You have to control this problem very well, starting with early pregnancy. For you will doubtlessly visit a nutritionist to discuss adding foods rich in fiber supplements. Consumption of excess water and juices will also help, as well, and exercise if EB allows. Lactulose is safe to use during pregnancy. Nevertheless, many people with EB used Movicol (Movikol – agent containing polyethylene glycol, pharmacies Moscow not found approx. Albanova VI), to be taken during pregnancy with caution. You should discuss with your doctor / midwife use Movicol.
Some women develop hemorrhoids during pregnancy as a result of constipation. In particular, it is undesirable for EB as it adds discomfort in the area that without it can be painful. In addition, it is possible gemorrroidalnoe bleeding, aggravating anemia.