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
CLI Medical Update: Donor 1368
CLI Moderator
Senior Member
Donor 1368 has been diagnosed with one copy of the Z mutation in the gene that causes alpha- 1 antitrypsin deficiency (A1ATD). His genetic testing shows he is an MZ carrier, with one normal gene (M) and one disease gene (Z).
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.
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.
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. The biological mother’s A1ATD allele can be detected by a simple blood test.
Additional resources:
Visit this website from the National Library of Medicine.(http://ghr.nlm.nih.gov/) and under ‘Conditions’ put in Alpha 1 Antitrypsin Deficiency.
You can also contact the genetic counselor at Cryogenic Laboratories, Inc by calling 1-800-466-2706.
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.
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.
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. The biological mother’s A1ATD allele can be detected by a simple blood test.
Additional resources:
Visit this website from the National Library of Medicine.(http://ghr.nlm.nih.gov/) and under ‘Conditions’ put in Alpha 1 Antitrypsin Deficiency.
You can also contact the genetic counselor at Cryogenic Laboratories, Inc by calling 1-800-466-2706.
Comments
He is now under the care of Dr. Balistreri at Cincinnati Children's Hospital. US News just rated them #1 in the country for their pediatric gastreonology and pulmonary departments and the Alpha Foundation reccomends Dr. Balistreri as one of the leading physicians treating alpha 1 in the world. My son is doing very well clinically, same as he was before the pneumonia, although his enzymes are still elevated and his aat production is very low. But, we really don't even know if we would have found the alpha 1 had it not been for the pneumonia. Time will tell.
My message for all you other parents out there is three-fold: First, if you need support or have questions, I would welcome the opportunity to share our experience. Second, I want to ease your fears because I know what it's like to be scared for your child and I wouldn't wish it on anyone. Even with ZZs, all three of my children are doing well. And, the chances are slim to none that any other offspring are more than MZ (which is completely manageable, and frankly preferable to type 1 diabetes if you ask me). Third, I want to recommend that if you have questions about the condition itself and/or want to obtain free testing for alpha 1, to contact Dawn McGee with the Medical University of South Carolina at 1-800-785-3177. They are conducting an alpha 1 study and can answer all your questions as well as provide a testing kit free of charge via mail.
Peace and warm wishes for you and your children,
Natalie
Thank you for sharing your experience Natalie. This is great information for others to know.
Luciana
Take care,
Chanda