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- CLI Donor 2921
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.
Donor 2921 has an offspring reported with alpha 1 antitrypsin deficiency (A1ATD). Donor 2921 has been confirmed through testing as a carrier for A1ATD, specifically one copy of the Z mutation.
What is alpha-1 antitrypsin deficiency?
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. Mutations in a gene called SERPINA1 cause A1ATD. This gene produces a protein which protects the body, (specifically the lungs and liver) from an enzyme called neutrophil elastase which normally helps fight infections, but can attack normal tissue in the lungs or liver. The most common version (allele) of the SERPINA1 gene is called M and produces normal levels of A1AT. The S allele produces decreased levels and the Z allele produces very little A1AT. Most disease occurs in individuals with two Z alleles, however people who have a Z and S allele can develop lung disease especially if the person smokes or is exposed to dust. Finally individuals with two S genes or a MS combination appear to have no significant risk for disease related to A1ATD. Even among affected individuals with the ZZ genotype, the presence and severity of any disease is not predictable. Only 10-15% of children with a ZZ genotype will develop any significant liver disease and the development of lung problems is highly dependent on tobacco smoke and dust exposure
About 1 in 2,000 to 3,000 individuals of European ancestry are believed to have A1ATD. About 1 in 50 carry either the S or Z mutation associated with the disease. A1ATD can occur in other ethnicities, but is much less common. The risk an untested woman using this donor would have an SZ or ZZ child is 1/200. If she has testing and is negative the risk is significantly reduced. The biological mother’s A1AT allele can be detected by a simple blood test.
A child from this donor has a 50% chance of inheriting his Z gene, but only if they inherit a maternal Z or S gene would disease risks increase.
This condition is inherited in an autosomal co-dominant pattern. Co-dominance means that two different versions of the gene may be active (expressed), and both versions
contribute to the genetic trait. A child inherits one copy of the gene from each biological parent. And only if the child is SZ or ZZ, are they at risk for disease.
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. Only unused semen specimens will qualify for a refund. Any incurred shipping or storage costs will not be refunded. If the specimens are stored at your doctor’s office and you do not want 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. Only after receiving that letter from the offsite storage facility with your name, donor #, vial ID numbers including the total number of units destroyed will the refund be generated.
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. Prior to using any units, or transferring any embryos created from donor #, we will require that you sign an informed consent that confirms you understand the circumstances with this donor’s medical update. Any units of donor # sent from CLI will require that the informed consent be signed, notarized and returned prior to shipment. A copy of that informed consent is available by contacting CLI. Once signed you would no longer qualify for a full refund on unused specimens. In that case, you could request a 50% refund on only those units stored at CLI.
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 1-800-466-2796 for more information
Donor 2921 has an offspring reported with alpha 1 antitrypsin deficiency (A1ATD). Donor 2921 has been confirmed through testing as a carrier for A1ATD, specifically one copy of the Z mutation.
What is alpha-1 antitrypsin deficiency?
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. Mutations in a gene called SERPINA1 cause A1ATD. This gene produces a protein which protects the body, (specifically the lungs and liver) from an enzyme called neutrophil elastase which normally helps fight infections, but can attack normal tissue in the lungs or liver. The most common version (allele) of the SERPINA1 gene is called M and produces normal levels of A1AT. The S allele produces decreased levels and the Z allele produces very little A1AT. Most disease occurs in individuals with two Z alleles, however people who have a Z and S allele can develop lung disease especially if the person smokes or is exposed to dust. Finally individuals with two S genes or a MS combination appear to have no significant risk for disease related to A1ATD. Even among affected individuals with the ZZ genotype, the presence and severity of any disease is not predictable. Only 10-15% of children with a ZZ genotype will develop any significant liver disease and the development of lung problems is highly dependent on tobacco smoke and dust exposure
About 1 in 2,000 to 3,000 individuals of European ancestry are believed to have A1ATD. About 1 in 50 carry either the S or Z mutation associated with the disease. A1ATD can occur in other ethnicities, but is much less common. The risk an untested woman using this donor would have an SZ or ZZ child is 1/200. If she has testing and is negative the risk is significantly reduced. The biological mother’s A1AT allele can be detected by a simple blood test.
A child from this donor has a 50% chance of inheriting his Z gene, but only if they inherit a maternal Z or S gene would disease risks increase.
This condition is inherited in an autosomal co-dominant pattern. Co-dominance means that two different versions of the gene may be active (expressed), and both versions
contribute to the genetic trait. A child inherits one copy of the gene from each biological parent. And only if the child is SZ or ZZ, are they at risk for disease.
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. Only unused semen specimens will qualify for a refund. Any incurred shipping or storage costs will not be refunded. If the specimens are stored at your doctor’s office and you do not want 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. Only after receiving that letter from the offsite storage facility with your name, donor #, vial ID numbers including the total number of units destroyed will the refund be generated.
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. Prior to using any units, or transferring any embryos created from donor #, we will require that you sign an informed consent that confirms you understand the circumstances with this donor’s medical update. Any units of donor # sent from CLI will require that the informed consent be signed, notarized and returned prior to shipment. A copy of that informed consent is available by contacting CLI. Once signed you would no longer qualify for a full refund on unused specimens. In that case, you could request a 50% refund on only those units stored at CLI.
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 1-800-466-2796 for more information