Hello and welcome to the Fairfax Cryobank Family Forum!
The forum has a new look and the Fairfax Team is so excited to create the best experience for our users.
To Note:
Private Donor Groups and Private Sibling Connection Groups are now located under the category "Groups". Search the donor number in the search box and you should find exactly what you're looking for!
Questions about your forum access? Email forum@fairfaxcryobank.com
Follow these steps to join a private donor group:
1) Press "Join" at the right of the group
2) Once prompted to confirm your request please list this information so we can verify your information:
Name (under which the vial was purchased)
Email
Clinic Name
Donor number
Child Date of Birth
*If you are looking to start a private group for a PRS donor please email forum@fairfaxcryobank.com with the above information and that you are looking for a PRS group*
If you have any questions about the verification process please email forum@fairfaxcryobank.com
The forum has a new look and the Fairfax Team is so excited to create the best experience for our users.
To Note:
Private Donor Groups and Private Sibling Connection Groups are now located under the category "Groups". Search the donor number in the search box and you should find exactly what you're looking for!
Questions about your forum access? Email forum@fairfaxcryobank.com
Follow these steps to join a private donor group:
1) Press "Join" at the right of the group
2) Once prompted to confirm your request please list this information so we can verify your information:
Name (under which the vial was purchased)
Clinic Name
Donor number
Child Date of Birth
*If you are looking to start a private group for a PRS donor please email forum@fairfaxcryobank.com with the above information and that you are looking for a PRS group*
If you have any questions about the verification process please email forum@fairfaxcryobank.com
Medical Update- Cryogenic Laboratories, Inc (CLI) Donor 1992
CLI Moderator
Senior Member
Medical updates provided by CLI offer the added advantage that they are verified. We can confirm client information, review donor records and provide you accurate information right from the source. Please contact us if there is a medical update you would need to share. Donors can always update their medical history with us and we will share that information with you when it becomes available.
We have received information that Donor 1992 has an offspring with Achromatopsia.
Donor 1992 is considered to be a carrier for the disease. Other offspring are at risk for Achromatopsia only if both their biological parents are carriers.
What is Achromatopsia?
Achromatopsia is an inherited disease that causes reduced visual acuity, an inability to see well in bright light, and the inability to see color. It is typically present at birth.
People with achromatopsia often experience a vibration or rapid oscillation in their field of vision, a symptom known as pendular nystagmus. Their vision is 20/200 or poorer and completely without color. Symptoms of achromatopsia do not worsen over time and do not typically lead to blindness.
Several genes can cause achromatopsia. One gene, CNGB3, is most commonly responsible for achromatopsia, causing 50% of known cases.
How do people inherit Achromatopsia?
This condition is inherited in an autosomal recessive pattern, which means both the parents must carry one copy of a mutated gene for this condition in order to have an affected child. Carriers are healthy and do not show signs and symptoms of the condition. Nor do carriers usually have anyone else in their family who is affected with the recessive disease.
There is a 1 in 2 (50%) chance for any child conceived by this donor to also be a carrier of this condition. Carriers do not have the disease or any symptoms, but could have children with achromatopsia if they reproduce with another carrier. Only if both reproductive partners are carriers would there be a chance (1 in 4 or 25%) for a child to be affected. The child with Achromatopsia had two mutations in the CNGB3 gene (Pro273 del8; T383del1aC). Presumably one mutation was inherited from the mother and the other from donor 1992. At this time testing in the mother and donor has not been completed, so we are not able to determine which of these two mutations the donor, and hence your child, might carry.
What are my chances of having a child with this disorder?
Achromatopsia occurs in about 1/33,000 births. One in 90 individuals is a carrier for Achromatopsia. Carriers do not have the disease. Cryogenic Laboratories recommends that any recipient wishing to use donor #1992 consider having carrier testing performed. Carrier testing is available and may be covered by insurance. Standard carrier testing with the common detects over 50% of possible mutations and would reduce the carrier risk from 1/90 to 1/230. (This testing costs about $350. There is also more extensive testing available (gene sequencing) that can reduce the risk even further but costs are high at over $5000.) A medical geneticist and/or genetic counselor can coordinate testing for carrier status or our genetics staff can send your doctor the information about ordering the appropriate test. Without testing a recipient and therefore assuming her carrier status is unknown, there is approximately a 1 in 360 (0.3%) chance of having a child with Achromatopsia resulting from the use of donor #1992. This means there is greater than a 99% chance of having a child without the condition. If standard carrier testing is negative for the mother who uses semen from donor 1992, the risk reduces further to 1/920.
If you have stored semen samples on site with your doctor’s facility or at CLI you are entitled to a full refund for the cost paid per dose. For specimens stored at CLI, we will keep your account open until we hear from you. Conversely, if you wish to close your CLI storage account and seek a refund for your stored specimens, you must contact us. Please call 800-466-2796 and say you would like a refund on your 1992 vials stored at CLI. Only unused semen specimens will qualify for a refund. Any incurred shipping or storage costs are not refundable. If the specimens are stored at your doctor’s office and you do not wish to keep the specimens for future use and desire a refund, you must authorize destruction at your doctor’s facility and that facility must send us a letter indicating that they have complied with that request which must include your name, donor #, number of vials destroyed and each vials specimen date. Please ask them to use the address and/or fax number below. After receiving that letter from the offsite storage facility, we will process your refund. There is no time limit on your request for requesting a refund.
You may keep your specimens and use them in the future if you wish. You may also order more semen units from CLI if they are available, in order to have a full sibling. Any units of donor 1992 sent from CLI will require that the informed consent be signed, notarized and returned prior to shipment. This includes units sent from storage accounts as well as new purchases for families seeking to have additional children by this donor. A copy of that informed consent is available by contacting CLI. A full refund is available for any units in storage unless a consent is signed, after which our standard return policy applies (50% for units that have not left CLI and no refund for units which have left CLI).
Donor profile information in your online order history for this donor will not be accessible. But we are happy to forward you electronic copies by email. Please contact us and we would be glad to assist you. Our goal is to have the donor information fully accessible in a few months so you can check for any other updates over time by viewing the donor's summary profile on the donor search.
CLI has a full time certified genetic counselor, Suzanne Seitz, MS, available to you to answer your questions. In addition our staff is available to help process refunds and exchanges as necessary. Please call us at 1-800-466-8000 for more information.
We have received information that Donor 1992 has an offspring with Achromatopsia.
Donor 1992 is considered to be a carrier for the disease. Other offspring are at risk for Achromatopsia only if both their biological parents are carriers.
What is Achromatopsia?
Achromatopsia is an inherited disease that causes reduced visual acuity, an inability to see well in bright light, and the inability to see color. It is typically present at birth.
People with achromatopsia often experience a vibration or rapid oscillation in their field of vision, a symptom known as pendular nystagmus. Their vision is 20/200 or poorer and completely without color. Symptoms of achromatopsia do not worsen over time and do not typically lead to blindness.
Several genes can cause achromatopsia. One gene, CNGB3, is most commonly responsible for achromatopsia, causing 50% of known cases.
How do people inherit Achromatopsia?
This condition is inherited in an autosomal recessive pattern, which means both the parents must carry one copy of a mutated gene for this condition in order to have an affected child. Carriers are healthy and do not show signs and symptoms of the condition. Nor do carriers usually have anyone else in their family who is affected with the recessive disease.
There is a 1 in 2 (50%) chance for any child conceived by this donor to also be a carrier of this condition. Carriers do not have the disease or any symptoms, but could have children with achromatopsia if they reproduce with another carrier. Only if both reproductive partners are carriers would there be a chance (1 in 4 or 25%) for a child to be affected. The child with Achromatopsia had two mutations in the CNGB3 gene (Pro273 del8; T383del1aC). Presumably one mutation was inherited from the mother and the other from donor 1992. At this time testing in the mother and donor has not been completed, so we are not able to determine which of these two mutations the donor, and hence your child, might carry.
What are my chances of having a child with this disorder?
Achromatopsia occurs in about 1/33,000 births. One in 90 individuals is a carrier for Achromatopsia. Carriers do not have the disease. Cryogenic Laboratories recommends that any recipient wishing to use donor #1992 consider having carrier testing performed. Carrier testing is available and may be covered by insurance. Standard carrier testing with the common detects over 50% of possible mutations and would reduce the carrier risk from 1/90 to 1/230. (This testing costs about $350. There is also more extensive testing available (gene sequencing) that can reduce the risk even further but costs are high at over $5000.) A medical geneticist and/or genetic counselor can coordinate testing for carrier status or our genetics staff can send your doctor the information about ordering the appropriate test. Without testing a recipient and therefore assuming her carrier status is unknown, there is approximately a 1 in 360 (0.3%) chance of having a child with Achromatopsia resulting from the use of donor #1992. This means there is greater than a 99% chance of having a child without the condition. If standard carrier testing is negative for the mother who uses semen from donor 1992, the risk reduces further to 1/920.
If you have stored semen samples on site with your doctor’s facility or at CLI you are entitled to a full refund for the cost paid per dose. For specimens stored at CLI, we will keep your account open until we hear from you. Conversely, if you wish to close your CLI storage account and seek a refund for your stored specimens, you must contact us. Please call 800-466-2796 and say you would like a refund on your 1992 vials stored at CLI. Only unused semen specimens will qualify for a refund. Any incurred shipping or storage costs are not refundable. If the specimens are stored at your doctor’s office and you do not wish to keep the specimens for future use and desire a refund, you must authorize destruction at your doctor’s facility and that facility must send us a letter indicating that they have complied with that request which must include your name, donor #, number of vials destroyed and each vials specimen date. Please ask them to use the address and/or fax number below. After receiving that letter from the offsite storage facility, we will process your refund. There is no time limit on your request for requesting a refund.
You may keep your specimens and use them in the future if you wish. You may also order more semen units from CLI if they are available, in order to have a full sibling. Any units of donor 1992 sent from CLI will require that the informed consent be signed, notarized and returned prior to shipment. This includes units sent from storage accounts as well as new purchases for families seeking to have additional children by this donor. A copy of that informed consent is available by contacting CLI. A full refund is available for any units in storage unless a consent is signed, after which our standard return policy applies (50% for units that have not left CLI and no refund for units which have left CLI).
Donor profile information in your online order history for this donor will not be accessible. But we are happy to forward you electronic copies by email. Please contact us and we would be glad to assist you. Our goal is to have the donor information fully accessible in a few months so you can check for any other updates over time by viewing the donor's summary profile on the donor search.
CLI has a full time certified genetic counselor, Suzanne Seitz, MS, available to you to answer your questions. In addition our staff is available to help process refunds and exchanges as necessary. Please call us at 1-800-466-8000 for more information.