How did Ethan get Factor VII Deficiency and are the boys okay?
A carrier is a person who carries the defective gene but is not affected by the disease. In order for a person to inherit Factor VII Deficiency, both parents must be carriers. In such a case, the child inherits two defective Factor VII genes; one from the mother and the other from the father.
If a person inherits the defective gene from only one of his or her parents, he/she will be a carrier. His/her Factor VII level may be below normal, but there will be no signs of the disease.
Figure 1 shows what can happen when a carrier of Factor VII Deficiency has children with another carrier. There is a 1-in-4 chance that a child will have severe Factor VII Deficiency, a 1-in-2 chance that a child will be a carrier and a 1-in-4 chance that a child will be normal.
Approximately 1 out of 1000 persons is a carrier of the defective Factor VII gene. However, because both parents need to be carriers of the defective gene in order to pass on the disease, severe Factor VII Deficiency is extremely rare—it occurs in 1 in 500,000 people. The disease affects males and females in equal numbers.
What are the odds right? John and I are both carriers, but we don’t have any family history of Factor VII Deficiency. I guess we were just meant to be. The boys are fine. They do not carry a defective gene.
Could it have been detected during pregnancy?
Factor VII Deficiency is often diagnosed when a newborn has a bleeding episode soon after birth, possibly following circumcision. The diagnosis is made by measuring the level of Factor VII in the blood.
However, in some cases, Factor VII Deficiency is diagnosed later in childhood or even in adulthood.When a patient shows signs of abnormal bleeding, his/her doctor normally asks for a small blood sample in order to measure the length of time it takes for a clot to form. One of the things this test can show, especially when it is prolonged, is a deficiency in Factor VII.
* Factor VII is a trace protein found in the blood. It plays a role in the coagulation cascade, the chain reaction that is set in motion to form fibrin when there is an injury to a blood vessel. Factor VII is activated, or "turned on", by tissue factor. It is turned into Factor VIIa (the "a" stands for "activated"). Factor VIIa in turn activates Factor X (pronounced Factor 10) and Factor IX (pronounced Factor 9), allowing the clotting process to continue. If one of the clotting proteins such as Factor VII is absent, the chain reaction is broken, and clotting occurs more slowly, or not at all.
Because we didn’t have any family history of Factor VII Deficiency and we already had two perfectly healthy children, there was no genetic testing needed for me. Even if there was testing performed for hemophilia A or B (the most common bleeding disorder), Factor VII Deficiency is SO rare that it still wouldn’t have been detected. Besides, even if I found out while I was pregnant, I would NOT terminate the pregnancy.
How did the Factor VII Deficiency cause a brain bleed?
Blood is carried throughout the body in a network of blood vessels. When tissues are injured, damage to a blood vessel may result in leakage of blood through holes in a vessel wall. The vessels can break near the surface, as in the case of a cut. Or they can break deep inside the body, causing a bruise or an internal hemorrhage.
Clotting, or coagulation, is a complex process that makes it possible to stop injured blood vessels from bleeding. As soon as a blood vessel wall breaks, the components responsible for coagulation come together to form a plug at the break. There are several steps involved in forming this plug.
* Blood platelets, which are very tiny cell fragments, are the first to arrive at the break. They clump together and stick to the wall of the damaged vessel.
* These platelets then emit chemical signals that call for help from other platelets and from clotting factors.
* The clotting factors, including Factor VII, are tiny plasma proteins. The strands of fibrin join together to weave a mesh around the platelets. This prevents the platelets from drifting back into the blood stream.
The most common sites of bleeding with Factor VII Deficiency are:
* the joints. This is called hemarthrosis. Frequent bleeding into a joint can cause permanent damage to the joint, called hemophilic arthropathy.
* the muscles and body tissues. These bleeds are called hematomas. They, too, can cause serious damage, if left untreated.
* the central nervous system – the brain or the spine. This can happen after an injury or for no apparent reason.
* the mouth, usually after dental surgery or a tooth extraction. This type of bleeding is quite common in Factor VII Deficiency. Depending on the severity of the deficiency of Factor VII, affected persons may need to be treated with factor replacement therapy before any dental treatment so as to avoid bleeding.
Surprisingly, bleeding during or after surgery is quite rare in people with Factor VII Deficiency, even among those whose deficiency is severe enough to cause frequent joint bleeds.
Several studies have shown that up to 16% of people with severe Factor VII Deficiency have had a bleed in the Central Nervous System, either the brain or spine. This means that good care in a treatment centre that specializes in bleeding disorders is of vital importance. Intracranial bleeding can also occur in newborns due to trauma at birth.
Ethan’s brain hemorrhage occurred spontaneously and happened all at once. He did not slowly bleed and he did not suffer any head trauma during birth. The amount of blood that escaped was far too much. He bled into the part of his brain that controls the body’s vital signs so he could not breathe on his own. Ethan’s life was being supported artificially by the ventilator. People with bleeding disorders will suffer from random bleeds in their joints, GI tract, brain, or neck. There is no way to foresee them, the bleeds just happen. Sometimes the bleeds are fatal and other times they are not. There was no surgical intervention available to save his life.
What will happen if you have another baby that turns out to be Factor VII Deficient?
Treatment with blood products or blood substitutes can temporarily raise Factor VII levels high enough to stop bleeding. This is called factor replacement therapy. Factor VII concentrates can be infused:
* at the time of surgery
* to the mother during and after childbirth
* for serious bleeding in a joint
* after trauma
* before dental surgery or a tooth extraction
* for any other serious bleeding episode
Currently, the most commonly used treatment in Factor VII concentrate. This factor concentrate is made from human plasma and contains only Factor VII.
If John and I decide to have another child, they will be extra cautious with my pregnancy. I would have to have a C-section to avoid birth trauma. The baby will also have factor VII administered immediately after birth. They can attempt to test for it while the baby is still in the womb, but the results aren’t guaranteed. Again...even if I do have another child like Ethan, I would NOT terminate the pregnancy. If we have another deficient child, factor replacement therapy is effective in treating the deficiency. Ethan did not pass from being Factor VII Deficient, he passed due to the brain bleed. Preventing bleeds by keeping the factor level normal can guarantee that any future children we have will not have an untimely ending. People with bleeding disorderes can still lead healthy, fulfilling lives.
Hope this has helped answer some of your questions. If you have any more questions that you would like me to answer, message me. PLEASE, don’t hesitate to ask. I don’t care what the question is or how uncomfortable you may think it will be to ask me. Just ask. I don’t want speculation about what happened to my son. I’ve come across a person from my past who at first tried to pretend that the "news" did not reach them. It wasn’t until after I mentioned what happened that this person said "Oh yeah, I heard." I’m sure this person meant no harm, but nonetheless it was still an uncomfortable situation. The encounter upset me a little and it changed my outlook on what I chose to disclose about Ethan. I came to the conclusion that the truth is FAR BETTER than hearsay. Wouldn’t you rather know the truth anyway?
So again, just ask...it’s better for everyone that way.
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