genetic disorder Archives

Should You Speak to a Genetic Counselor Before Getting Pregnant?

Posted on February 20, 2020 by Michael Hinck

Choosing to start a family can be a complex decision for many. You need to balance your desire to have a baby with an assortment of real-life concerns about raising one. For some, a real concern is the risk of passing on a genetic disorder to their child. If this is an issue for you, a genetic counselor can be helpful.

Genetic or “hereditary” conditions are diseases that run in families. If you or your partner has a parent or grandparent with one of these types of conditions, there is an increased chance that your baby is predisposed to developing it as well.

Genetic counselors are specialists that can help you understand the causes of genetic conditions, what types of screenings and diagnostic tests are available to you, and what your chances are of having a baby with a genetic condition. In addition, genetic counselors can help potential parents deal with how genetic conditions can affect your family emotionally.

Genetic counselors can help determine the likelihood of your baby developing a wide range of conditions, including:

Single gene disorders, such as cystic fibrosis, sickle-cell anemia, Tay-Sachs disease or hemophilia
Chromosomal abnormalities that can lead to conditions such as Down syndrome
Complex disorders such as heart defects, spina bifida, or cleft palate which can be caused by a combination of genetic predispositions and environmental factors

There are multiple factors that can increase a person’s risk of passing along a genetic disorder, including:

A family history of a genetic disorder
A prior child with a genetic disorder
One parent with a chromosomal abnormality
Advanced maternal age (35 or older)
Advanced paternal age (40 or older)
Multiple miscarriages or prior stillbirth

To help prepare for your appointment, a genetic counselor may ask you to collect the medical histories of you and your partner’s parents, grandparents, aunts, uncles, and siblings, including a history of birth defects in your family. You may also be asked to provide a history of all other known medical conditions in your family, the age at which your family members were diagnosed and of any deaths resulting from these conditions.

If you are planning a pregnancy a genetic counselor can help you assess your risk-factors, review testing options, provide education and resources, and help you make informed decisions.

To make an appointment with a genetic counselor at Jamaica Hospital’s Women’s Health Center, please call 718-291-3276.

All content of this newsletter is intended for general information purposes only and is not intended or implied to be a substitute for professional medical advice, diagnosis or treatment. Please consult a medical professional before adopting any of the suggestions on this page. You must never disregard professional medical advice or delay seeking medical treatment based upon any content of this newsletter. PROMPTLY CONSULT YOUR PHYSICIAN OR CALL 911 IF YOU BELIEVE YOU HAVE A MEDICAL EMERGENCY.

Living Statue Syndrome-Fibrodysplasia Ossificans Progressiva (FOP)

Posted on February 9, 2016 by Xavia Malcolm

Living Statue Syndrome or Fibrodysplasia Ossificans Progressiva (FOP) is an extremely rare medical condition. It is known to affect one in every two million people worldwide. The condition causes bones to form in areas such as muscles, tendons, ligaments and across the joints. Essentially FOP forms a second skeleton in the body, which makes movement restricted or impossible in severe cases. It progressively imprisons the body in bones.

The condition is inherited and is believed to be caused by a genetic mutation. Symptoms typically begin during early childhood and gets worse as individuals age. Common symptoms include:

Malformation of the big toe and thumbs
Abnormally short toes and fingers
Malformation of the upper spinal column
Short and broad femoral necks
Difficulty breathing ( Due to excess bone formation around the ribcage)
Inflammation and pain during flare ups.

Diagnosis is done by administering a series of genetic tests. Currently there are no cures and treatment is focused toward reducing the severity of symptoms.

September is Sickle Cell Awareness Month

Posted on September 18, 2015 by Michael Hinck

September has been designated National Sickle Cell Awareness Month to bring attention to this genetic disease that affects an estimated 100,000 Americans.

Sickle cell disease is an inherited form of anemia – a condition in which red blood cells are unable to carry oxygen throughout the body. For most, red blood cells are round and can move easily through blood vessels, but the red blood cells in people with sickle cell disease are crescent, or half-moon shaped. These irregular shaped cells can get stuck in blood vessels, which can slow or block the flow of oxygen to certain parts of the body.

In addition to being irregular in shape, sickle cells are fragile and break apart easily. Normal red blood cells live an average of four months before they die and need to be replaced. Sickle-shaped cells however only live an average of 20 days. The result of this shortage of blood cells is a loss of energy and general sense of fatigue.
Other symptoms of sickle cell disease include:

• Hand-Foot Syndrome – Often the first sign of sickle cell disease. It is caused by a lack of blood flow to the hands and feet

• Episodes of Pain – Referred to as a “crisis”, these episodes of pain occur when blood flow is blocked to the chest, abdomen, and joints. The frequency and duration of the episodes vary from person to person, but in severe cases, they can result in hospitalization.

• Frequent Infections and Fever– Sickle Cell can cause damage to the spleen, an organ that fights infection, making those with sickle cell at greater risk of developing an infection and an accompanying fever.

• Changes in Skin – People with sickle cell disease can develop a yellow tint to their skin or the whites of their eyes. Skin and nail beds can often become pale.

• Delayed growth – By not receiving enough oxygen rich red blood cells, those with sickle cell disease may also not get the necessary nutrients essential for growth.

The risk of inheriting sickle cell disease is a genetic one. For a baby to be born with it, both parents must carry the sickle cell gene. Doctors can diagnose sickle cell disease before a child is born. Couples who are at risk for passing on this disease to their children may want to talk with a genetic counselor about prenatal testing. The sickle cell gene is more common in families that come from Africa, India, Carribbean islands, and Central and South America.

To determine if you have sickle cell disease, your doctor can order a test to check for hemoglobin S, the defective form of hemoglobin that underlies sickle cell anemia. Further tests can confirm the existence of one gene (carrying the sickle cell trait) or two genes (sickle cell anemia). For those who have sickle cell anemia, treatment is aimed at treating the symptoms and avoiding crisis. Regular check-ups to monitor your red blood cell count are important. Medications are available to reduce pain and prevent complications can be prescribed, and blood transfusions, supplemental oxygen and even bone marrow transplants may also be necessary.

Jamaica Hospital serves a culturally rich and diverse population. Many members of our community are from the parts of the world most often affected by sickle cell disease. In recognition of National Sickle Cell Awareness Month, Jamaica Hospital’s encourages anyone living with sickle cell disease to carefully manage their condition. The hospital also recommends all potential parents to be tested for the sickle cell trait.