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 4550
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 4550 has an offspring reported with a rare condition called Combined Oxidative Phosphorylation Deficiency II. A prior forum update reported
offspring diagnosed with oculo-cutaneous albinism type 4 (OCA Type 4), kidney reflux, hypospadias and cleft palate.
We have received a new report of a child with a rare medical condition. The risk is exceptionally small for any other family who used this donor, but your child could be a healthy carrier for this genetic disease.
A child has been reported with Combined Oxidative Phosphorylation Deficiency II (COXPDII). Genetic testing on the child revealed 2 genetic mutations, one he received from his mother, the other presumably from Donor 4550. The name of the specific gene tested was RMND1 and the 2 mutations found were p.Asn238Ser and p.Val130Tyr. The disorder is present at birth and children have serious loss of muscle tone, lactic acidosis and seizures. COXPDII is an autosomal recessive disease where both parents must be carriers. The disease is extremely rare and the likelihood that another mother is carrier is much less than 1%.
If your child has not exhibited the symptoms mentioned above, it is highly unlikely they have the disease.
We believe the donor is a healthy carrier for this disease and that his children have a 50% of inheriting the same gene mutation he has, thus making them healthy carriers as well. We do not yet know which of the two gene mutations he has. It would be important to keep this information with your child’s medical records and consider testing before he/she go on to have children of their own.
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 800-338-8407 and say you would like a refund on your 4550 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. Please ask them to use the address and/or fax number below. After receiving that letter from the offsite storage facility with your name, donor #, vial ID numbers including the total number of units destroyed, 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. Prior to using any units from donor 4550, 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 4550 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. 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).
Please contact our genetic counselor at 800-338-8407 if you have further questions.
Donor 4550 has an offspring reported with a rare condition called Combined Oxidative Phosphorylation Deficiency II. A prior forum update reported
offspring diagnosed with oculo-cutaneous albinism type 4 (OCA Type 4), kidney reflux, hypospadias and cleft palate.
We have received a new report of a child with a rare medical condition. The risk is exceptionally small for any other family who used this donor, but your child could be a healthy carrier for this genetic disease.
A child has been reported with Combined Oxidative Phosphorylation Deficiency II (COXPDII). Genetic testing on the child revealed 2 genetic mutations, one he received from his mother, the other presumably from Donor 4550. The name of the specific gene tested was RMND1 and the 2 mutations found were p.Asn238Ser and p.Val130Tyr. The disorder is present at birth and children have serious loss of muscle tone, lactic acidosis and seizures. COXPDII is an autosomal recessive disease where both parents must be carriers. The disease is extremely rare and the likelihood that another mother is carrier is much less than 1%.
If your child has not exhibited the symptoms mentioned above, it is highly unlikely they have the disease.
We believe the donor is a healthy carrier for this disease and that his children have a 50% of inheriting the same gene mutation he has, thus making them healthy carriers as well. We do not yet know which of the two gene mutations he has. It would be important to keep this information with your child’s medical records and consider testing before he/she go on to have children of their own.
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 800-338-8407 and say you would like a refund on your 4550 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. Please ask them to use the address and/or fax number below. After receiving that letter from the offsite storage facility with your name, donor #, vial ID numbers including the total number of units destroyed, 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. Prior to using any units from donor 4550, 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 4550 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. 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).
Please contact our genetic counselor at 800-338-8407 if you have further questions.