A rare disease, as its name suggests, is a pathology that affects a very limited amount of the population (an estimated 1 in 2000 people). They usually affect people from birth (although it can occur at any stage of life), and due to their low frequency, the causes, evolution or treatment are often not known. Can a woman with a rare disease successfully achieve a pregnancy? What are the risks of transmitting the same illness to an offspring?
Around 80% of rare diseases have a genetic component. These diseases can be inherited or are due to a chromosomal anomaly (for example, loss or gain of genetic material). Some of these rare diseases can also be caused by exposure to teratogenic substances such as chemicals, toxic substances and radiation during pregnancy or due to environmental factors. It is estimated that 6 to 8% of the world population is affected, more or less. Many of those affected may not be able to live a normal life, but what happens when a woman with a rare disease is or wishes to become pregnant? Here are 10 odd illnesses a pregnant woman can get:
10. Patent Ductus Arteriosus (PDA)
Patent ductus arteriosus is a constant opening between the two main blood vessels that leave the heart. The opening, called the arterial duct, is a normal part of the baby’s circulatory system before birth and usually closes shortly after it. However, if it remains open, it is called patent ductus arteriosus. Often, a small PDA does not cause problems and you may never need treatment. However, a large PDA that is left untreated can allow poorly oxygenated blood to flow in the wrong direction, weakening the heart muscle and causing heart failure, as well as other complications. Treatment options for a patent ductus arteriosus include control, medications, and closure through cardiac catheterization and surgery.
Most women who have a small patent ductus arteriosus can tolerate pregnancy without problems. However, having major complications or defects, such as heart failure, arrhythmias or pulmonary hypertension, may increase the risk of complications during pregnancy. In case of having Eisenmenger syndrome, avoid getting pregnant, as it can be deadly. There is no sure way to avoid having a baby with a PDA. However, it is important to do everything possible to have a healthy pregnancy. Some of the things that should be done are to seek early prenatal medical care, even before becoming pregnant; follow a healthy diet, exercise regularly, avoid taking risks, avoid infections and keep diabetes under control.
9. Systemic Lupus Erythematosus (SLE)
Lupus, also called systemic lupus erythematosus or SLE is an autoimmune disorder that can cause health problems during pregnancy. Autoimmune disorders are health problems that occur when antibodies (body cells that fight infection) mistakenly attack healthy tissue anywhere in the body. Lupus and other autoimmune disorders can cause swelling, pain and sometimes organ damage. Lupus can also affect the joints, skin, kidneys, lungs and blood vessels. Women are more likely to suffer from autoimmune disorders such as lupus than men. It often manifests itself in women of reproductive age (16 to 44) and can affect pregnancy. Fortunately, with proper medical care, women can have a healthy pregnancy even if they have lupus.
Most babies whose mothers have lupus are healthy. However, some babies may face health risks such as premature birth. About 3 in 10 babies (30 percent) of mothers with lupus are born prematurely. Premature babies may need to stay in the hospital longer or have more health problems than full-term babies (39 to 41 weeks of pregnancy). Another risk babies may face is neonatal lupus. About 3 out of every 100 babies (3 percent) are born with this temporary form of lupus. This disease causes a rash and blood problems but usually disappears by 6 months of age. However, up to half of those babies have a heart problem called heart block, which causes a slow heartbeat. The heart block is usually permanent. Some babies need a pacemaker so that the heart can beat regularly.
8. Noonan Syndrome
Noonan syndrome is a genetic disease that is transmitted from parents to children or appears by a mutation not previously present in the family (de novo). People who suffer from it can have several problems, the most typical being short stature, heart alterations, certain typical alterations of the face and skeletal alterations (especially in the thorax, spine, and arms). The first description of the syndrome was awarded to the American cardiologist Jacqueline Noonan in 1962, although, logically, there were people who had it before; In the nineteenth and early twentieth centuries there was some compatible description, and already in a painting by Goya from 1787 we can see a child with an anomaly that possibly was due to Noonan syndrome (The poor in the fountain).
It is estimated that this disease appears in one of 1,000-2,500 live births, so it really is not that rare. As it is a syndrome that can have diverse manifestations, sometimes in the low limits of normality, and with a range of severity very diverse, not all individuals are diagnosed. Therefore, they can transmit the syndrome to their children without even being aware of it. Noonan syndrome can be associated with several health problems, including very serious, such as their associated heart disease. Even so, today, with an early diagnosis and adequate care, affected people can have a much better quality of life than if the diagnosis and follow-up are not accurate. In addition, there are patient and family associations that can serve as support and guidance in the multidisciplinary needs of the people affected.
Obesity in pregnancy carries risks for the mother such as pre-eclampsia or gestational diabetes and, ultimately, for the fetus: miscarriage, spina bifida or overweight babies. Following a balanced and varied diet throughout pregnancy will help to avoid excessive weight gain. The best treatment for obesity of a pregnant woman is to lose weight before the pregnancy, always with a medical control to take a varied and balanced diet, since it is contraindicated to make slimming diets at this stage. The body needs essential nutrients to help the development of the baby.
A gynecologist can perform a more intense control of a pregnancy in case of overweight, and recommend to not gain more than 6 to 9 kilos throughout the pregnancy. Carrying a healthy and balanced diet by eliminating fast food, fried foods, industrial bakery, and snacks will help to not gain excessive weight during the 9 months of pregnancy. Trying not to lead a sedentary life by at least walk half an hour a day can provide great results in the long run. It would be convenient, in case of suffering from obesity in pregnancy, to perform a moderate physical exercise. Swimming, yoga, Pilates or gymnastics for pregnant women are good resources to stay in shape.
Blood pressure is the tension exerted by the blood against the wall of the arteries. This pressure is essential for blood to circulate through the blood vessels and provide oxygen and nutrients to all organs of the body so that they can function. When there is a continuous increase in the blood pressure levels in the arteries, this is a case of hypertension, which can complicate pregnancy and constitute a risk to the health of the mother and the fetus. High blood pressure may be present before pregnancy, although only a small percentage of cases develop during it. That is, pregnant women with hypertension usually have this disease previously. Nonetheless, it can also be due to pregnancy (gestational hypertension). During pregnancy, the circulatory system undergoes alterations.
The common denominator of the heterogeneous group of hypertensive diseases during pregnancy is the increase in blood pressure equal to or greater than 140/90 mmHg. A very common type of hypertension is chronic hypertension. It is usually diagnosed before pregnancy or before 20 weeks of pregnancy: the mother already being hypertensive. As the name suggests, this type of hypertension does not disappear after delivery. Most of the time, it corresponds to essential hypertension in 90% of cases that is of unknown cause and only 10% of cases is secondary to another disease such as diabetes, kidney disease, heart disease and autoimmune diseases, among others.
5. Pre-eclampsia (PE)
It causes decreased blood flow to the placenta and, therefore, to the fetus due to vasoconstriction or the narrowing of the blood vessels located in the placenta. In addition to the excessive presence of proteins in the urine, its clearest symptom is the swelling of the feet, hands, and face since the beginning of the day, unlike the inflammation of the feet, which normally occur to pregnant women in the afternoon. It is the main class of hypertension capable of causing maternal death (approximately 30 percent of the maternal deaths). It occurs from the fifth or sixth month of gestation, especially if they are new mothers, regardless of their age.
Whether it is a twin pregnancy, the woman is a teenager or over 40 years old, personal or family history of preeclampsia, or if she suffers from associated diseases such as lupus, diabetes, obesity or mole. It does not disappear before delivery. It is said that Aspirin serves to prevent and control it, as long as the doctor indicates it. It causes seizures, hemorrhages, kidney, and liver failure in the mother, and low weight and respiratory problems in the neonate; In addition, it delays intrauterine growth and increases the risk of suffering a heart attack in the future, according to a study developed by the London Institute for Women’s Health.
Gingivitis, a common condition during pregnancy, is a form of periodontal disease that leads to inflammation and bleeding of the gums, due to the infection that destroys the supporting tissues of the teeth (gums, periodontal ligaments, and alveolar bone). Gingivitis is due to the long-term effects of plaque deposits, and more than 50% of all pregnant women experience some form of pregnancy gingivitis. Usually, gingivitis does not involve any risk, unless it is not treated in time. Care must be taken to prevent and treat this infection because, in the event of complications, the periodontal problems could lead to premature delivery.
There are several reasons that make gingivitis so frequent during pregnancy. An increase in blood flow during pregnancy can cause the gums to swell, cause pain, and even bleeding, which increases the risk of gingivitis. The increase of hormone levels also elevates the risk of developing gingivitis during pregnancy. The gums and teeth become more sensitive to the bacteria that are hidden in the plaque. In addition, the increase in vomiting during pregnancy can also damage the gums. This is because stomach acid from vomiting could eat away at the gum tissue and tooth enamel, making the mouth much more sensitive.
3. Gestational diabetes mellitus (GDM)
Diabetes is a serious disease in which the body cannot adequately control the amount of sugar in the blood because it does not have enough insulin. Diabetes is the most common medical complication during pregnancy, accounting for 3.3% of all live births. No matter what type of diabetes the person has, there are many steps that to take in order to have a safe and healthy pregnancy. Whether trying to conceive or already pregnant, treating diabetes during pregnancy is key for the health of the patient and the baby.
Take some time to form a health care team and design a care plan to manage blood glucose levels. Frequent contact with a doctor is essential for managing blood glucose levels and monitoring the patient and the baby’s health. Prioritizing proper nutrition will help control the blood sugar before and after conception. Consider telling a doctor about the current medications being consumed for diabetes, or any other health condition in order to stay safe during pregnancy. Make appointments with the appropriate high-risk specialists. Specialists can include a perinatologist who treats women with high-risk pregnancies, and an endocrinologist who treats women with diabetes and other health conditions.
Anemia is a disease in which the body lacks the ability to produce the appropriate amount of hemoglobin (the protein that carries oxygen) or the number of red blood cells. Red blood cells are one of the components of the blood system and hemoglobin is one of its main components. As red blood cells are responsible for transporting oxygen from one cell to another, the fact of having a small amount means that the body must work harder to obtain and transport the oxygen needed for organs and tissues. In pregnant women, anemia can appear in different degrees, especially after 20 weeks of gestation. Many pregnant women have some degree of anemia that is not harmful but anemias caused by hereditary abnormalities in hemoglobin can complicate pregnancy, which is why blood tests are performed to detect these abnormalities in pregnant women.
In addition, to detect anomalies in the hemoglobin of the fetus, a study of the chorionic villi or an amniocentesis can be performed. Anemia during pregnancy increases the risk of diseases and even death of the newborn in the most severe cases (fortunately, they are the least). The fetus depends on the mother’s blood and anemia can lead to poor fetal growth, a premature birth, and a low birth weight baby. In the mother, it also increases the possibility for other diseases to appear. In addition, the woman can look pale and the extra effort that the body has to make during pregnancy can cause the woman to feel more tired, down and may be irritable.
1. Placental abruption
Placental abruption is a rare but serious complication of pregnancy. The placenta is a structure that develops in the uterus during pregnancy and nourishes the growing baby. If the placenta is detached from the inner wall of the uterus before delivery, either partially or completely, it is called “placental abruption”. It can deprive the baby of oxygen and nutrients, and cause severe bleeding in the mother. Placental abruption often appears suddenly and, if left untreated, it endangers both the mother and the baby. Placental abruption is more likely to occur in the last trimester of pregnancy, especially during the last weeks before birth. Some classic signs and symptoms of placental abruption are vaginal bleeding, abdominal pain, back pain, uterine sensitivity, and rapid uterine contractions, among others.
Abdominal pain and back pain, in general, start suddenly. The amount of vaginal bleeding varies greatly and does not necessarily correspond to the amount of placenta that has separated from the inner wall of the uterus. It is even possible to have a severe detachment of the placenta and not have visible bleeding if the blood is inside the uterus and blocked by the placenta. In some cases, placental abruption manifests gradually. If that is the case, intermittent mild vaginal bleeding is noticeable. The baby may not grow as fast as expected and the woman may have a low volume of amniotic fluid (oligohydramnios) or other complications.