Heritable Diseases and why it's important to understand them
Do you want to know the facts about Heritable Diseases? Well… You’re in the right place. Quest to Cure Foundation’s mission is to bring awareness to, if not play a part in eradicating heritable diseases, because we believe that once you are aware of your genetic makeup, you will be able to make an informed decision about starting a family
If your Newborn was diagnosed via the Newborn Screening process with a genetic blood disorder or as being a carrier of an abnormal gene such as Sickle Cell Trait, Hemophilia or Cystic Fibrosis please click on the FAQs below to learn more.
Sickle Cell Trait (SCT)
Based on an article from the American Society of Hematology, “more than 1 million to 3 million Americans and 8 to 10 percent being African Americans has Sickle Cell Trait.”
Your doctor has informed you that your child has Sickle Cell Trait. They may have inferred that there is nothing to worry about because “Sickle Cell Trait” is NOT Sickle Cell disease. Sickle Cell Disease is a blood disorder that is very painful and can result in death. Sickle Cell Trait occurs when a person inherits a normal gene (A) from one parent, and an abnormal gene from the other parent. Sickle Cell Trait only means that your baby is a carrier of the Sickle Cell gene.
If you want to arm your baby with the knowledge and tools needed to make informed decisions when they’re ready to have children, contact a Quest to Cure Representative. We are here for you.
Below are a few general questions that most parents ask when faced with the news that their baby has been born with Sickle Cell Trait.
WHAT IS SICKLE CELL TRAIT?
Sickle Cell Trait occurs when a person inherits a normal gene (A) from one parent, and a Sickle gene (S) from the other parent. Sickle Cell Trait only means that your baby is a carrier of the Sickle Cell gene.
What’s The Most Important Thing I Need To Know About My Baby Having An Abnormal Gene Called “The Trait/Carrier?"
Well, most importantly, you need to know that your baby will most likely have no symptoms. Unfortunately, if the screening identified that your baby is merely a carrier of a genetic disorder, they probably downplayed the results as non-life-threatening, and failed to educate you about the possibilities of future risks to your grandchildren. Yes, I said grand-children. No one looks at their newborn and ask…. “Will this diagnosis affect my baby’s children?”
This misinformation becomes, “Tribal knowledge,” meaning, it is up to you to remember to tell your baby when they become an adult that they carry an abnormal gene that could be passed down to their baby. Also, if that abnormal gene is passed down, and their partner also carries an abnormal gene, your grandchildren, has a 25% chance of being born with a life-threatening genetic disorder.
IS SICKLE CELL TRAIT A DISEASE?
Sickle cell trait (SCT) is not a disease, but having it means that a person has inherited the sickle cell gene from one of his or her parents. People with SCT may live normal lives.
IS SICKLE CELL TRAIT PAINFUL FOR MY BABY?
In extreme form and in rare cases, the following conditions could be harmful for people with SCT:
• Increased pressure in the atmosphere (e.g., while scuba diving).
• Low oxygen levels in the air (e.g., when mountain climbing, exercising extremely hard in military boot camp, or training for an athletic competition)..
• Dehydration (e.g., too little water in the body).
• High altitudes (e.g., flying, mountain climbing, or visiting a city at a high altitude). Sickle Cell
WILL SICKLE CELL TRAIT CAUSE ANY DEFORMITIES?
No. There are no known cases of Sickle Cell Trait causing deformities to the body.
HOW CAN I FIND OUT WHICH PARENT GAVE MY BABY SICKLE CELL TRAIT?
One parent passed a sickle gene (S) along to your new baby because they were a carrier of the Sickle gene. A simple blood test can determine which parent carries the Sickle Cell Gene. Ask your doctor about where to go to get tested or click on our partner page and schedule an appointment with on of our lab partners.
CAN SICKLE CELL TRAIT BE PREVENTED?
Genes are passed along from parents to their babies. There is no known procedure that can control how genes are passed along to their children.
However
Do not depend on Tribal knowledge
GET THE IMMUNIZATION PASSPORT TODAY!
The gap in the dissemination of information from parent to child prevents the child when they become adults from making informed reproduction decisions for themselves. The Immunization Passport is important information found in your newborn baby's immunization record which will help remind you that your baby is a carrier of an abnormal gene. Because Immunization records can be used from birth to college, you and your child when they become old enough, will always be reminded of their genetic makeup. This will in turn drastically change the incident rate of babies born with genetic blood disorders. And, assist your child with making informed reproduction decisions.
COULD SICKLE CELL TRAIT HAPPEN TO EVERY BABY I HAVE?
For a baby to be born with sickle Cell Trait, one parent must be a carrier of the Sickle gene (S). If one parent carries the sickle gene (S) and the other normal genes (A), there is a fifty percent chance (50%) of your baby being a carrier or having normal genes. If the (S) gene that your baby carries combine in any combination with another (S) or Sickle gene, your baby’s child or children can be born with Sickle Cell disease.
If your baby is born with Sickle Cell Trait (AS), it is the parents duty to get educated about what will happen if their child marries and has babies with someone who also carries the (S) gene.
Quest to Cure representatives are not doctors or professionals in the subject matter. We simply want to encourage and inspire you to make informed decisions when thinking about starting a family. If you have additional questions that are not listed, please refer to our resource page where you can find links to more information on the subject matter.
Cystic Fibrosis(CF) Carrie
Your doctor has informed you that your child is a Cystic Fibrosis (CF) carrier. They may have inferred that there is nothing to worry about because being a carrier of cystic fibrosis is NOT the disease. Everyone has two copies of the CFTR gene, one copy inherited from their mother and one from their father. A person must have mutations in both copies of the CFTR gene to have Cystic Fibrosis. This means that parents who each have a mutation in only one copy of the CFTR gene, and therefore do not have the disorder themselves, can together have a child with CF. Being a carrier of CF occurs when a person inherits a normal gene from one parent, and an abnormal or mutated gene from the other parent.
If you have a family history of Cystic Fibrosis and decide that you want to have children, talk to your doctor to make sure that you are tested for the right mutation.
Below are a few general questions that most parents ask after learning that their baby is a Cystic Fibrosis Carrier.
What is Cystic Fibrosis?
Cystic Fibrosis is a defective gene that causes the body to produce an abnormally thick, sticky mucus that clogs the lungs and leads to life threatening lung infections. According to the CDC, CF results from mutations (changes) in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR), which has instructions for making the CFTR protein.
Who is mostly affected by Cystic Fibrosis
Cystic fibrosis carriers are found in every ethnic group. Following are estimates of the CF gene mutation carriers in the United States by ethnicity:
White people: one in 29
Hispanics: one in 46
Black people: one in 65
Asian Americans: one in 90
Regardless of your ethnicity or if you have a family history of cystic fibrosis, you should get tested.What does it mean if I am a carrier?
If you are a carrier, there is no impact on your health. However, there is a chance that you could have a child with CF. Your partner should get screened to see if they too are a CF Carrier.
If only one of you is found to be a carrier, the chance that you will have a child with CF is very low, although not completely eliminated. If you are both carriers, each pregnancy will have a 1 in 4, or 25 percent chance of being affected with cystic fibrosis.
If my test result is normal, can I still be a carrier?
Yes. If you have the test and no CF mutation is identified, your chance of being a CF carrier is reduced but not eliminated. Some people are carriers of a rare CF mutation that cannot be detected by routine screening. There is still a small chance that someone with a negative test result could be a carrier and have a child with CF.
How is cystic fibrosis inherited?
Cystic fibrosis is inherited in an autosomal recessive manner. Our genes come in pairs, with one copy inherited from each parent. Some genes have mutations in them, and do not function properly. A person with one non-functional copy of the gene is a carrier. Carriers for CF have no symptoms, but can pass the non-functioning gene on to their children. An individual must inherit two non-functioning CF genes – one from each parent – to have CF.
If both parents are carriers there is a 1 in 4 (25 percent) chance that both will pass on the non-functioning gene, which would result in a pregnancy affected with cystic fibrosis.
How and when is CF Diagnosed
All babies born in the United States are checked for CF soon after birth as part of Newborn Screening. Early screening is important so that treatment can start right away. Early treatment can help delay or prevent complications of the disorder. You can take control over if your baby will be born with CF by knowing your genetic makeup. .
Quest to Cure representatives are not doctors or professionals in the subject matter. We simply want to encourage and inspire you to make informed decisions when thinking about starting a family. If you have additional questions that are not listed, please refer to our resource page where you can find links to more information on the subject matter.
Hemophilia Carrier
Hemophilia is when a person has a deficiency in blood clotting leading to abnormal bleeding. According to Healthgrades article on the 6 most common hereditary diseases, the hemophilia gene is located on the X chromosome that encodes gender. Since males have an X and a Y chromosome, they inherit only one copy of the X chromosome (from their mother). So, if their mother is a carrier of the mutated gene, they have a better chance of inheriting hemophilia. Females have two X chromosomes (one from their mother and one from their father), and one usually has a normal copy of the gene. This means most women with the gene mutation are carriers, but have no signs or symptoms of the disease.
Below are a few general questions that most parents ask after learning that their baby is a Hemophilia Carrier.
What gender is mostly affected by Hemophilia?
Males are mostly affected by hemophilia
Who is mostly affected by Hemophilia
According to the CDC, compared to the distribution of race and ethnicity in the U.S. population, white race is more common, Hispanic ethnicity is equally common, while black race and Asian ancestry are less common among persons with hemophilia.
What does it mean if I am a carrier?
According to an article written by Nathionwidechildrens.org, Carriers are females who have one working hemophilia gene and one non-working hemophilia gene. The working gene can produce Factor VIII or Factor IX. For this reason, many carriers will have Factor VIII or Factor IX levels in the normal range. Sometimes a carrier’s factor levels are too low and the person may have bleeding symptoms. This person is called a symptomatic (sim toe MAT ick) carrier.
How is Hemophilia inherited?
Males have an X and a Y chromosome; they inherit only one copy of the X chromosome from their mother. A female who is a carrier has a 50 percent chance that each male child they give birth to will have hemophilia or be a hemophilia carrier.
How is Hemophilia Diagnosed
There are two blood tests that can be done to find out if you are a hemophilia carrier.
There are two blood tests that can be done to find out if you are a hemophilia carrier. A test for factor levels. People who have a low-normal Factor VIII or Factor IX level may be hemophilia carriers.
A genetic test. This test can confirm if either you or your child is a hemophilia carrier. For the most accurate genetic test, a male relative with hemophilia should have a genetic test to find the gene change in the family
Quest to Cure representatives are not doctors or professionals in the subject matter. We simply want to encourage and inspire you to make informed decisions when thinking about starting a family. If you have additional questions that are not listed, please refer to our resource page where you can find links to more information on the subject matter.
Muscular Dystrophy (DMD) Carrier
In 2019 the U.S. Food and Drug Administration authorized marketing of the first test to aid in newborn screening for Duchenne Muscular Dystrophy (DMD) which is a rare genetic disorder that causes progressive muscle deterioration and weakness. A statement in an FDA News Release by Tim Stenzel, M.D., Ph.D., states that diagnostics that can safely and effectively screen newborns can help health care professionals identify and discuss potential treatment options with parents and caregivers before symptoms are noticeable on baby’s health. Duchenne Muscular Dystrophy (DMD) is rare however, it is the most common type of muscular dystrophy. It is caused by an absence of dystrophin, a protein that helps keep muscle cells intact.
Below are a few general questions that most parents ask after learning that their baby is a (DMD) Carrier.
What gender is mostly affected?
Muscular Dystrophy (DMD) affects males almost exclusively. However, girls and women who are carriers of Duchenne can have symptoms and although rare, can have the same disease as boys
What ethnic group is mostly affected by DMD?
It appears that DMD is significantly more common in white males than in males of other races.
About Duchenne carriers?
A carrier is a person who “carries” a genetic mutation in any of their genes that could be passed on to their children. Fact is, the mutation for Duchenne is found on the X chromosome which means only females can be carriers for the mutation on the gene that encodes for dystrophin protein. Duchenne Carriers have a greater chance of having sons with Duchenne and daughters who are carriers.
Do both parents have to have the muscular dystrophy gene?
>“In most cases, muscular dystrophy (MD) runs in families. It usually develops after inheriting a faulty gene from one or both parents. MD is caused by mutations (alterations) in the genes responsible for healthy muscle structure and function. If one or both of parents has a mutated gene that causes MD, it can be passed on to their children.”
To learn more, we have found a great informative source that we believe will break it down for you in small understandable topics https://www.nhs.uk/conditions/muscular-dystrophy/causes/
Quest to Cure representatives are not doctors or professionals in the subject matter. We simply want to encourage and inspire you to make informed decisions when thinking about starting a family. If you have additional questions that are not listed, please refer to our resource page where you can find links to more information on the subject matter.
Spinal Muscular Atrophy (SMA) Carrier
According to the National Library of Medicine https://pubmed.ncbi.nlm.nih.gov/25979781/, Spinal muscular atrophy (SMA) is a motor neuron disorder caused by the absence of a functional survival of motor neuron 1, telomeric (SMN1) gene. Most people have two functioning copies of the SMN1 gene. People with one non-working copy and one working copy of the gene are called “carriers.” Carriers generally do not show signs and symptoms of spinal muscular atrophy (SMA) but could be at risk to have a child affected with the condition. If both parents are carriers, they have a 1-in-4 chance of having a child with SMA. Approximately 1 in 50 people are SMA carriers. In many cases, people who are carriers of hereditary diseases have no idea that they are carriers of abnormal or non-working genes until they have a child born with a genetic disorder. Type I SMA, is a lethal disease of infancy which accounts for the majority of cases. Spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality. Children with type I SMA typically die by the age of 2 years.
Below are a few general questions that most parents ask after learning that their baby is a Spinal Muscular Atrophy (SMA) Carrier
What are the chances of my baby being born with SMA?
SMA is an autosomal recessive genetic condition. This means that for a baby to have SMA, they must inherit two non-working copies of the SMN1 gene, one from each parent. If only one parent is a carrier, the child is usually not at risk for SMA, yet the child does have a 50% chance of also being a carrier. However, in rare cases the SMN1 gene can change during egg or sperm production which can seemingly appear that the disease has been caused by a single carrier.
How can I find out if I am a SMA Carrier?
A DNA test is the only way to know if you are a SMA carrier. DNA tests can detect about 95% of carriers. However, according to curesma.org, the African-American populations, detection is closer to 70%. This is because a difficult-to-detect mutation is seen more frequently in African-American populations than in other races..
What ethnic group is mostly affected by SMA?
In the U.S. it is estimated that 1 in every 6000 to 10,000 individuals receive a diagnosis of SMA. SMA is prevalent in every ethnic group however, it is most common among Caucasians..
What health problems are associated with SMA?
>According to an article on the John Hopkins website “SMA Signs and Symptoms” Spinal muscle atrophy symptoms vary. Symptoms may be mild or disabling. Symptoms involve a weakness of the muscles that control movement. SMA weakens the muscles closest to the center of the body which includes the shoulders, hips thighs and upper back. Involuntary muscles, such as those in the heart, blood vessels and digestive tract, are not affected. More severe symptoms include breathing and swallowing which could be life threatening.
Quest to Cure representatives are not doctors or professionals in the subject matter. We simply want to encourage and inspire you to make informed decisions when thinking about starting a family. If you have additional questions that are not listed, please refer to our resource page where you can find links to more information on the subject matter.
- SUPPORT A WORTHY CAUSE
- A MISSION THAT IS UNMATCHED
- AN ORGANIZATION TRUSTED BY THE COMMUNITY
- IMPACT
- WE ARE ALL CONNECTED
- INCLUSIVE
- TAX BENEFIT?
Mission, Trust, Impact, Connection, Diversity and... Tax Benefits. .
Quest to Cure knows that those are all the reasons individuals give to nonprofit organizations. For Quest to Cure it's simple. We want to accomplish 3 basic things. Access to Adequate Medical Care; Eradicate Heritable Diseases through Education and, Assist with Transitioning children who's been negatively affected by genetic disorders from Youth to Adult Care. Your charitable donations will help us accomplish those goals.
Our mission is not a mission that affects a small community. Heritable diseases can affect anyone and knows no boundaries.
Our purpose is ongoing, and our need is ever present. As long as babies continue to be born with sickle cell trait and other heritable diseases, there will be a need for our services. Until our Quest of eradicating heritable diseases is fulfilled, Quest to Cure will continue to serve
Quest to Cure Foundation started in 2003 as a 501(c)3 Parent Led Nonprofit Organization.
Our programs provided community outreach services to children with sickle cell disease. It eventually expanded its services adding genetic disorders such as thalassemia as well as extended services to family members and adults by creating comprehensive programs that offered advocacy, education, and direct support for funeral cost due to the lack of resources in the community. In 2012 Quest to Cure closed their doors due to the founder’s twin sons Joshua and Jordan being recipients of Bone Marrow Transplant. Although Quest to Cures doors were closed, the founder Kristine remained as the go to person for community outreach and received more than ten calls a month from hospitals, individuals with genetic disorders and community organizations seeking much needed resources. It became clear that even in Quest to Cures absence, we were continually present. Kristine was then convinced to reopen Quest to Cures doors even if it meant using her own personal funds. Because a community in crisis is a community that needs championing.
OF THE COMMUNITY FOR THE COMMUNITY.
Quest to Cure is and always will be the go-to community organization that caters to individuals who suffer from Sickle Cell Disease and other heritable diseases. Quest to Cure Sickle Cell Foundation was founded by Kristine Buchanan, a young lady who has five young children whom two of them, a set of identical twin boys having the most severe form of sickle cell Disease. The organization was created as a parent-to-parent support group designed to teach and promote self-advocacy which in turn would build a stronger inclusive sickle cell community. We have added to our services the “Bearing Healthy Babies Initiative” which, if done right, is designed to eradicate or dramatically decrease hereditary diseases. Quest to Cure is the Preeminent Voice for Change.
KNOW YOUR GENETIC MAKE-UP.
We understand that most people have never considered the possibility of their newborn baby being born with health conditions. However, despite public perception, hereditary diseases exist and continues to devastate the lives of so many individuals and their families. Education and public information are the most effective tools for increasing awareness. With television news and radio waves flooded with information on more popular health issues such as COVID19, Cancer and other life-threatening disease, people who carry heritable traits which may cause future life-threatening diseases are overlooked when in actuality if paid attention too can be prevented. That is why your support is needed.
CHANGING THE WORLD CAN ONLY BE DONE TOGETHER.
Everyone wants to be a part of something. Quest to Cure not only need your financial support but we would also like to get to know you. We need the help of people like you because changing the world can only be done together.
If you simply want to donate funds to a great cause, Quest to Cure is a 501c3 nonprofit organization with big goals and your support can help us achieve them.