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 diagnosed with oculo-cutaneous albinism type 4 (OCA Type 4).
Another offspring has been diagnosed with kidney reflux.
What is oculo-cutaneous albinism?
Oculo-cutaneous albinism is a disorder that is usually diagnosed within the first year. The primary findings are decreased pigmentation in the skin, hair and eyes. The other factor that is required to make the diagnosis is the presence of at least one of the characteristic eye findings. These can be diagnosed by an ophthalmologist (a physician) and include the following: nystagmus, reduced iris pigment with translucency, reduced retinal pigment, and foveal hypoplasia with reduced visual acuity. Vision becomes stable after childhood and skin pigment increases. Children with OCA must be cautious about damaging sun exposure and have regular eye exams. Your pediatrician can reassure you that your child does not have this condition. If there are any concerns, a pediatric ophthalmologist (eye doctor with an MD degree) can evaluate your child and rule out the disease.
How is OCA Type 4 inherited? What are the chances my child would get this disease?
Oculo-cutaneous albinism is inherited as an autosomal recessive trait, where both parents must be carriers of the disorder. They must each pass a copy of their OCA gene to their offspring. An affected offspring has 2 disease genes; carriers have only one disease gene. The chance anyone in the general population is a carrier for this OCA is approximately 1/100 and may be as high as 1/50 (2%) in the African American population. Without knowing if you, as the person being inseminated with donor 4550’s semen, are a carrier or not, the chance that you would have an offspring with OCA is between 1/200 and 1/400, or less than 1%. The chance that an offspring born from donor 4550 is a healthy carrier, with only one copy of the gene for OCA, is 50%. The genetic testing on the affected child included multiple genes associated with oculo-cutaneous albinism. The only alterations found were two changes in the OCA4 gene. It is unclear if these changes are disease producing since they reported have been seen in normal individuals. We will, however, consider them as possibly causative.
In addition, genetic testing for this disease is not easily interpreted and is often problematic for people who have no symptoms or family history. Therefore, carrier testing at this point is not likely to be very helpful for any recipient who would like to use this donor. Without the mutations in both parents being well defined, prenatal testing of any pregnancy created with this donor will not be possible. Please seek genetic counseling to better understand your options for genetic testing as technology is changing rapidly.
What is kidney reflux?
A second child was reported to have kidney reflux, also known as vesicoureteral reflux (VCR), as a fetus and then confirmed as a newborn. On imaging the reflux grade was 3 (out of 4) on one side and 4 on the other. VCR is a common abnormality involving reflux of urine retrograde through the ureters. In the most severe cases, infected urine can reflux to the renal pelvis causing scarring. Vesicoureteral reflux is diagnosed by voiding cystourethrography or nuclear scan. In many cases, patients are asymptomatic, and often come to attention only after a urinary tract infection. Effective treatment is available.
How is kidney reflux or VCR inherited?
There is a hereditary predisposition to VCR. The likelihood a child from donor 4550 (as a half sibling to the affected child) will have VCR is about 10%. The inheritance pattern probably arises from factors from both parents. This condition appears to follow a multifactorial pattern of inheritance and clustering in families is well documented in the medical literature. A simple blood test is not available to determine if the parents are carriers. At the current time CLI is unaware of a history of this condition in the family of the donor or the donor himself, but the grandmother on the child’s mother’s side does have adult onset nephritis which may have increased the risk for this one family. No other reports of this condition in any other known offspring from donor 4550 have been reported.
How can I get my child or pregnancy evaluated for VCR?
It is currently controversial as to whether asymptomatic children, particularly those above age 3 need to be tested by voiding cystourethrography or nuclear scan. CLI recommends that patients discuss this option with their pediatrician. For ongoing pregnancies, obstetrical ultrasound would be expected to show ureteral dilatation and fluid in the renal pelvis indicating moderate to severe VCR. Milder cases of reflux would not be detected.
In view of these findings, CLI cannot recommend the use of sperm for insemination from donor 4550 and therefore has stopped general sales of sperm from this donor. The use of this donor will be limited only to couples who have previously conceived and delivered a child and wish a full biologic sibling, and to those individuals that have already purchased and stored this donor for future inseminations.
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).
Donor 4550 has an offspring diagnosed with oculo-cutaneous albinism type 4 (OCA Type 4).
Another offspring has been diagnosed with kidney reflux.
What is oculo-cutaneous albinism?
Oculo-cutaneous albinism is a disorder that is usually diagnosed within the first year. The primary findings are decreased pigmentation in the skin, hair and eyes. The other factor that is required to make the diagnosis is the presence of at least one of the characteristic eye findings. These can be diagnosed by an ophthalmologist (a physician) and include the following: nystagmus, reduced iris pigment with translucency, reduced retinal pigment, and foveal hypoplasia with reduced visual acuity. Vision becomes stable after childhood and skin pigment increases. Children with OCA must be cautious about damaging sun exposure and have regular eye exams. Your pediatrician can reassure you that your child does not have this condition. If there are any concerns, a pediatric ophthalmologist (eye doctor with an MD degree) can evaluate your child and rule out the disease.
How is OCA Type 4 inherited? What are the chances my child would get this disease?
Oculo-cutaneous albinism is inherited as an autosomal recessive trait, where both parents must be carriers of the disorder. They must each pass a copy of their OCA gene to their offspring. An affected offspring has 2 disease genes; carriers have only one disease gene. The chance anyone in the general population is a carrier for this OCA is approximately 1/100 and may be as high as 1/50 (2%) in the African American population. Without knowing if you, as the person being inseminated with donor 4550’s semen, are a carrier or not, the chance that you would have an offspring with OCA is between 1/200 and 1/400, or less than 1%. The chance that an offspring born from donor 4550 is a healthy carrier, with only one copy of the gene for OCA, is 50%. The genetic testing on the affected child included multiple genes associated with oculo-cutaneous albinism. The only alterations found were two changes in the OCA4 gene. It is unclear if these changes are disease producing since they reported have been seen in normal individuals. We will, however, consider them as possibly causative.
In addition, genetic testing for this disease is not easily interpreted and is often problematic for people who have no symptoms or family history. Therefore, carrier testing at this point is not likely to be very helpful for any recipient who would like to use this donor. Without the mutations in both parents being well defined, prenatal testing of any pregnancy created with this donor will not be possible. Please seek genetic counseling to better understand your options for genetic testing as technology is changing rapidly.
What is kidney reflux?
A second child was reported to have kidney reflux, also known as vesicoureteral reflux (VCR), as a fetus and then confirmed as a newborn. On imaging the reflux grade was 3 (out of 4) on one side and 4 on the other. VCR is a common abnormality involving reflux of urine retrograde through the ureters. In the most severe cases, infected urine can reflux to the renal pelvis causing scarring. Vesicoureteral reflux is diagnosed by voiding cystourethrography or nuclear scan. In many cases, patients are asymptomatic, and often come to attention only after a urinary tract infection. Effective treatment is available.
How is kidney reflux or VCR inherited?
There is a hereditary predisposition to VCR. The likelihood a child from donor 4550 (as a half sibling to the affected child) will have VCR is about 10%. The inheritance pattern probably arises from factors from both parents. This condition appears to follow a multifactorial pattern of inheritance and clustering in families is well documented in the medical literature. A simple blood test is not available to determine if the parents are carriers. At the current time CLI is unaware of a history of this condition in the family of the donor or the donor himself, but the grandmother on the child’s mother’s side does have adult onset nephritis which may have increased the risk for this one family. No other reports of this condition in any other known offspring from donor 4550 have been reported.
How can I get my child or pregnancy evaluated for VCR?
It is currently controversial as to whether asymptomatic children, particularly those above age 3 need to be tested by voiding cystourethrography or nuclear scan. CLI recommends that patients discuss this option with their pediatrician. For ongoing pregnancies, obstetrical ultrasound would be expected to show ureteral dilatation and fluid in the renal pelvis indicating moderate to severe VCR. Milder cases of reflux would not be detected.
In view of these findings, CLI cannot recommend the use of sperm for insemination from donor 4550 and therefore has stopped general sales of sperm from this donor. The use of this donor will be limited only to couples who have previously conceived and delivered a child and wish a full biologic sibling, and to those individuals that have already purchased and stored this donor for future inseminations.
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).