Appendix C
Sample letter for carrier of SMA to share with family members
Date
Dear (Patient’s name),
Enclosed is a copy of a letter you may send to your family members regarding your SMN1 gene carrier status. This mutation for spinal muscular atrophy (SMA) was discovered as part of your prenatal testing. We discussed you have family members who may be interested in this information. As we do not know if the mutation was inherited from your mother or father, we cannot be more specific as to who might most appropriately benefit from this information. You may wish to share the information with relatives from both your mother and father’s family.
You are welcome to modify the letter to suit your purposes or to keep the information private. This letter is provided to you as a tool to help you discuss this information with your family as you see fit.
Be aware we cannot discuss your personal information with any family member who contacts us without your explicit permission. Please feel free to contact us at any time with any additional questions or concerns.
Sincerely,
(Genetic Counselor)
Date
Dear Family,
As part of routine general population screening for my current pregnancy, I was determined to be a carrier of a genetic change, called a mutation, for the gene which causes spinal muscular atrophy (SMA). A mutation can cause a gene not to work properly. My doctor assured me I am perfectly healthy and this change will not cause any concern for me now or in the future. In fact, approximately 1 in 47 individuals in the Caucasian population carry a mutation in the SMN1 gene, which is responsible for SMA. Most of these individuals are not aware of their carrier status.
Most individuals inherit two complete SMN1 genes, one from their mother and one from their father. Only if there is a mutation in both of these genes is an individual affected by the disease. I have a mutation in only one of these genes, and have another perfectly functional gene which is sufficient to maintain a healthy state. However, if both parents carry a mutation of the SMN1 gene there is a 1 in 4 risk to have a child with the disease. For this reason, it has been recommended that my partner be screened for his SMA carrier status as well. We are awaiting his results and if he is a carrier for SMA as well, we plan to meet with a genetic counselor who can share information with us on available testing options both in the pregnancy and after our baby is born. These additional options will help us to learn if our baby has SMA.
SMA is a chronic disease affecting the strength of a child’s muscles. It can lead to never being able to ever sit independently or to losing the ability to walk over time. Children with SMA may also have issues with breathing, eating and sleeping. SMA does not affect every child in the same way, and some children may have only a few of these symptoms while others might experience all of them to different degrees. There are many new treatments for individuals with this condition; however, there is no cure at this time.
As SMA can run in families, there is a chance you could be a carrier for the SMN1 mutation as well. If you are planning to have children in the future, you may wish to discuss testing with your doctor. If you already have children, you should not be overly concerned about whether they have SMA. However, this information may be important to them later when they are considering having children of their own.
We encourage you to inform your healthcare provider of this family history so they may help you contact a genetics professional in your area to discuss SMA in more detail. The genetics professional can explain your risk to be a carrier for SMA as well as any available genetic testing. You can also find a genetic counselor in your area by contacting the National Society of Genetic Counselors (NSGC) at (312) 321-6834. The NSGC website can be found at the website there is a database to search for a genetic counselor near you. Scheduling a genetic counseling appointment does not mean you have to undergo carrier screening for SMA. The decision to pursue testing is a personal one.
Sincerely,
(Patient’s name)
Resources on SMA:
The Claire Altman Heine Foundation, Inc.
1112 Montana Ave, #372, Santa Monica CA 90403
Cure SMA
925 Busse Road, Elk Grove Village IL 60007
Fight SMA
1321 Duke Street, Suite 304, Alexandria VA 22314
The Jennifer Trust
40 Cygnet Court, Timothy’s Bridge Road, Stratford upon Avon, Warwickshire CV37 9NW, U.K.
Muscular Dystrophy Association – USA
National Headquarters 3300 E. Sunrise Drive, Tucson AZ 85718
Spinal Muscular Foundation
888 Seventh Avenue, Suite 400, New York NY 10019
Appendix D
Sample letter for parents of child with SMN1 gene deletions to share with family members
Date
Dear (Patient’s name),
Enclosed is a copy of a letter you may send to your family members regarding the diagnosis of SMA for your child. This diagnosis was made through genetic testing completed after your child began to experience health concerns. We discussed you have family members who may be interested in this information. You may wish to share the information with relatives from both your mother and father’s family.
You are welcome to modify the letter to suit your purposes or to keep the information private. This letter is provided to you as a tool to help you discuss this information with your family as you see fit.
Be aware we cannot discuss your personal information with any family member who contacts us without your explicit permission. Please feel free to contact us at any time with any additional questions or concerns.
Sincerely,
(Genetic Counselor)
Date
Dear Family:
We have enjoyed these past few months getting to know the most recent addition to our family and are excited about being new parents. However, we have recently learned our son/daughter has health issues related to a genetic disorder called Spinal Muscular Atrophy (SMA). We are still learning what this means for our son/daughter but we wanted to provide you with some medical information that may be important to you. Feel free to share this information with your healthcare provider.
SMA is a genetic disorder that leads to muscle weakness in the affected family member. This family member may not have the ability to move their limbs on their own and they can have poor weight gain, difficulty breathing, and sleeping issues. Their ability to learn is not affected by this disorder but many other health concerns can arise. With SMA there are five different levels, or sub-types.The type a child has depends on the age of the child when the symptoms start to show and also the motor milestones (ability to sit, ability to walk, etc.) the child reaches. There is no cure for SMA at this time, but there are treatments available for some of the symptoms found with SMA. It is helpful to have a team of physicians to care for babies with SMA. Our son/daughter is having his/her health managed by a neurologist but he/she will be seen over time by genetics, pulmonology, and general pediatrics along with other healthcare providers.
Spinal muscular atrophy is inherited in an autosomal recessive manner, meaning an individual must inherit a mutation in the SMN1 (survival motor neuron 1) gene from both their mother and father in order to have spinal muscular atrophy. A mutation can cause a gene not to work properly. When an individual has one mutation they are called carriers and are not expected to have health problems. Ultimately, individuals who have two mutations in their SMN1 gene have a form of spinal muscular atrophy. Both males and females can have the condition.
The diagnosis can be confirmed through genetic testing. The genetic testing helps determine if your family member has mutations within their SMN1 gene. Our son/daughter was found to have a mutation in both copies of his/her SMN1 gene. Our son’s/daughter’s physician recommended carrier screening for us (carrier screening can find if we carry a mutation of the SMN1 gene and would let us know if we would be at a higher chance of having another child with SMA). We were found to be carriers for SMA. As SMA can run in families and we are known carriers for SMA, there is a chance you could be a carrier for the SMN1mutation as well. If you are a carrier for SMA, there could be up to a 25% chance for you to have a child with SMA if your partner is also a carrier for SMA.
We hope to be able to share more information with you as we learn more about the condition ourselves.We understand this may be surprising and possibly even scary news. We encourage you to inform your healthcare provider of this family history so they may help you contact a genetics professional in your area to discuss SMA in more detail. The genetics professional can explain your risk to be a carrier for SMA as well as any available genetic testing. You can also find a genetic counselor in your area by contacting the National Society of Genetic Counselors (NSGC) at (312) 321-6834. The NSGC website can be found at the website there is a database to search for a genetic counselor near you. Scheduling a genetic counseling appointment does not mean you have to undergo genetic testing. The decision to pursue testing is a personal one.
Please feel free to contact us to discuss this in more detail.
Sincerely,
(Parents’ names)
Resources on SMA:
The Claire Altman Heine Foundation, Inc.
1112 Montana Ave, #372, Santa Monica CA 90403
Cure SMA
925 Busse Road, Elk Grove Village IL 60007
Fight SMA
1321 Duke Street, Suite 304, Alexandria VA 22314
The Jennifer Trust
40 Cygnet Court, Timothy’s Bridge Road, Stratford upon Avon, Warwickshire CV37 9NW, U.K.
Muscular Dystrophy Association – USA
National Headquarters 3300 E. Sunrise Drive, Tucson AZ 85718
Spinal Muscular Foundation
888 Seventh Avenue, Suite 400, New York NY 10019
Appendix E
Sample letter for parents of child with SMN1 gene deletion and intragenic mutation to share with family members
Date
Dear (Patient’s name),
Enclosed is a copy of a letter you may send to your family members regarding the diagnosis of SMA for your child. This diagnosis was made through genetic testing completed after your child began to experience health concerns. We discussed you have family members who may be interested in this information. You may wish to share the information with relatives from both your mother and father’s family.
You are welcome to modify the letter to suit your purposes or to keep the information private. This letter is provided to you as a tool to help you discuss this information with your family as you see fit.
Be aware we cannot discuss your personal information with any family member who contacts us without your explicit permission. Please feel free to contact us at any time with any additional questions or concerns.
Sincerely,
(Genetic Counselor)
Date
Dear Family:
We have enjoyed these past few months getting to know the most recent addition to our family and are excited about being new parents. However, we have recently learned our son/daughter has health issues related to a genetic disorder called Spinal Muscular Atrophy (SMA). We are still learning what this means for our son/daughter but we wanted to provide you with some medical information that may be important to you. Feel free to share this information with your healthcare provider.
SMA is a genetic disorder that leads to muscle weakness in the affected family member. This family member may not have the ability to move their limbs on their own and they can have poor weight gain, difficulty breathing, and sleeping issues. Their ability to learn is not affected by this disorder but many other health concerns can arise. With SMA there are five different levels, or sub-types.The type a child has depends on the age of the child when the symptoms start to show and also the motor milestones (ability to sit, ability to walk, etc.) that the child reaches. There is no cure for SMA at this time, but there are treatments available for some of the symptoms found with SMA. It is helpful to have a team of physicians to care for babies with SMA. Our son/daughter is having his/her health managed by a neurologist but he/she will be seen over time by genetics, pulmonology, and general pediatrics along with other healthcare providers.
Spinal muscular atrophy is inherited in an autosomal recessive manner, meaning an individual must inherit a mutation in the SMN1 (survival motor neuron 1) gene from both their mother and father in order to have spinal muscular atrophy. A mutation can cause a gene not to work properly. When an individual has one mutation they are called carriers and are not expected to have health problems. Ultimately, individuals who have two mutations in their SMN1 gene have a form of spinal muscular atrophy. Both males and females can have the condition.
The diagnosis can be confirmed through genetic testing, which helps determine if your family member has mutations within their SMN1 gene. Most individuals with SMA are missing both of the SMN1 genes, which is also called homozygous deletion of the SMN1 gene. However, some children have SMA because they are missing one copy of their SMN1 gene and then have an intragenic mutation in their second copy of their SMN1 gene. An intragenic mutation can be a small change in the SMN1 gene that does not allow it to work properly. Our child was found to have SMA due to a deletion of one copy of the SMN1 gene and an intragenic mutation in the second copy of the SMN1 gene. The exact intragenic mutation is (insert mutation name).
Our son’s/daughter’s physician recommended carrier screening for us (carrier screening can find if we carry a mutation of the SMN1 gene and would let us know if we would be at a higher chance of having another child with SMA). I, as the mother/father, was found to be a carrier for the deleted SMN1 gene, while the child’s father/mother was found to be a carrier for the intragenic mutation. As SMA can run in families and we are known carriers for SMA, there is a chance you could be a carrier for aSMN1mutation as well. If you are a carrier for SMA, there could be up to a 25% chance for you to have a child with SMA if your partner is also a carrier for SMA.
We hope to be able to share more information with you as we learn more about the condition ourselves.We understand this may be surprising and possibly even scary news. We encourage you to inform your healthcare provider of this family history so they may help you contact a genetics professional in your area to discuss SMA in more detail. The genetics professional can explain your risk to be a carrier for SMA of either the SMN1 gene deletion or the intragenic mutation. They can also explain any available genetic testing. You can also find a genetic counselor in your area by contacting the National Society of Genetic Counselors (NSGC) at (312) 321-6834. The NSGC website can be found at the website there is a database to search for a genetic counselor near you. Scheduling a genetic counseling appointment does not mean you have to undergo genetic testing. The decision to pursue testing is a personal one.
Please feel free to contact us to discuss this in more detail.
Sincerely,
(Parents’ names)
Resources on SMA:
The Claire Altman Heine Foundation, Inc.
1112 Montana Ave, #372, Santa Monica CA 90403
Cure SMA
925 Busse Road, Elk Grove Village IL 60007
Fight SMA
1321 Duke Street, Suite 304, Alexandria VA 22314
The Jennifer Trust
40 Cygnet Court, Timothy’s Bridge Road, Stratford upon Avon, Warwickshire CV37 9NW, U.K.
Muscular Dystrophy Association – USA
National Headquarters 3300 E. Sunrise Drive, Tucson AZ 85718
Spinal Muscular Foundation
888 Seventh Avenue, Suite 400, New York NY 10019