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 2410
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 2410 has been diagnosed as a PKU carrier.
What is phenylketonuria (PKU)?
PKU is a rare metabolic disorder caused by a complete or near-complete deficiency of phenylalanine hydroxylase (PAH) activity. This enzyme metabolizes the amino acid phenylalanine to tyrosine and when it is not working properly an excess of phenylalanine accumulates. Increased blood concentrations of phenylalanine if not treated can lead to mental retardation and other physical abnormalities including small head (microcephaly). Dietary restriction of phenylalanine begins as soon as it is detected in the newborn stage and will prevent the symptoms of PKU. Children with PKU have no apparent birth defects and appear normal at birth. Newborn screening, presumably performed on all newborns in every state in the US, effectively detects PKU. Dietary treatment begins immediately and lifetime monitoring is required.
How common is PKU?
PKU occurs in about 1/10,000 Caucasian birth. One in 50 Caucasians individuals is a carrier for PKU. The risk is slightly higher for those of Irish decent (1/33) and lower for Asians, Ashkenazi Jews and Africans. Genetic testing is available to detect about 95% of carriers. The testing is very complex and involves full gene sequencing for the phenylalanine hydroxylase (PAH) gene that causes PKU. Currently, this test costs about $1100 and takes about 4 weeks for results.
How do people inherit PKU?
This condition is inherited in an autosomal recessive pattern, which means both the parents must carry one copy of the mutated gene in order to have an affected child. Carriers are healthy and typically do not show signs and symptoms of the condition. The chance that a mother would be a carrier is 1 in 50. And only when both biological parents are carriers is there a 1 in 4 chance of an affected child. The overall risk, given that we do not know the mother’s carrier status is 1 in 200 for an affected child. A child’s chance of being a carrier, like their carrier donor, is 50%.
Cryogenic Laboratories recommends that any recipient wishing to use donor #2410 consider having carrier testing performed, and requires that an informed consent be read and signed prior to using any semen samples on donor #2410. A medical geneticist and/or genetic counselor can coordinate testing for carrier status for PKU or our genetics staff can send to your doctor the information about ordering the appropriate test. Cost for testing are at the client’s expense and may be covered by insurance.
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 2410 has been diagnosed as a PKU carrier.
What is phenylketonuria (PKU)?
PKU is a rare metabolic disorder caused by a complete or near-complete deficiency of phenylalanine hydroxylase (PAH) activity. This enzyme metabolizes the amino acid phenylalanine to tyrosine and when it is not working properly an excess of phenylalanine accumulates. Increased blood concentrations of phenylalanine if not treated can lead to mental retardation and other physical abnormalities including small head (microcephaly). Dietary restriction of phenylalanine begins as soon as it is detected in the newborn stage and will prevent the symptoms of PKU. Children with PKU have no apparent birth defects and appear normal at birth. Newborn screening, presumably performed on all newborns in every state in the US, effectively detects PKU. Dietary treatment begins immediately and lifetime monitoring is required.
How common is PKU?
PKU occurs in about 1/10,000 Caucasian birth. One in 50 Caucasians individuals is a carrier for PKU. The risk is slightly higher for those of Irish decent (1/33) and lower for Asians, Ashkenazi Jews and Africans. Genetic testing is available to detect about 95% of carriers. The testing is very complex and involves full gene sequencing for the phenylalanine hydroxylase (PAH) gene that causes PKU. Currently, this test costs about $1100 and takes about 4 weeks for results.
How do people inherit PKU?
This condition is inherited in an autosomal recessive pattern, which means both the parents must carry one copy of the mutated gene in order to have an affected child. Carriers are healthy and typically do not show signs and symptoms of the condition. The chance that a mother would be a carrier is 1 in 50. And only when both biological parents are carriers is there a 1 in 4 chance of an affected child. The overall risk, given that we do not know the mother’s carrier status is 1 in 200 for an affected child. A child’s chance of being a carrier, like their carrier donor, is 50%.
Cryogenic Laboratories recommends that any recipient wishing to use donor #2410 consider having carrier testing performed, and requires that an informed consent be read and signed prior to using any semen samples on donor #2410. A medical geneticist and/or genetic counselor can coordinate testing for carrier status for PKU or our genetics staff can send to your doctor the information about ordering the appropriate test. Cost for testing are at the client’s expense and may be covered by insurance.
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.