Every second spent with baby Jason is a treasured one for new mom Jahnae Holt.
"Everything he does is cute to me," she said.
The past nine months have been anything but easy for Jahnae. She has a rare blood disorder called dysfibrinogenemia. Pregnancy increased her risk of blood clots and bleeding.
"Everyone clots when they get cut or something, but with my condition, I clot a lot faster."
Jahnae's mom, grandmother and great-grandmother also had the disorder. Two of her uncles died from it. Doctors told jahnae they would have to watch her carefully during pregnancy -- especially after she mis-carried her first baby.
"Based on her family history, it's considered a serious disease in her," said Amir Hanbali, M.D., Hematologist/Oncologist Henry Ford Hospital.
More than a dozen doctors and nurses followed Jahnae during her high-risk pregnancy. She received daily injections of a blood thinner and twice-a-week infusions of a drug to thicken her blood. If her blood was too thin -- she could bleed out. Too thick -- and she could develop a dangerous clot. Jahnae also wasn't allowed to get an epidural during delivery.
"An epidural carries a high risk of bleeding, and the last thing we needed was bleeding in the spine," said Angela Lambing Nurse Practitioner/Coordinator at The Hemophilia and Thrombosis Center at Henry Ford Hospital.
The specialized treatment plan came at a cost. Those daily injections ran $100 a pop. The twice-a-week infusions: $1,600 dollars a dose! Luckily, insurance and support programs helped out with most of the cost.
"It was a very big team approach. Everybody was involved in making sure she had everything she needed."
Most importantly -- Jahnae had a healthy baby boy. An outcome she said was well worth it.
For more information on other series produced by Ivanhoe Broadcast News contact John Cherry at (407) 691-1500, firstname.lastname@example.org.
MEDICAL BREAKTHROUGHS - RESEARCH SUMMARY:
BACKGROUND: Blood is the life-sustaining liquid flowing through our heart, capillaries, veins and arteries. It carries oxygen, nourishment, hormones, and many other essential components throughout our bodies; without it, we would die. Blood is a combination of liquids and solids. The liquid, also called plasma, is made up of salts, protein and water, while the solids are a mixture of red and white blood cells, and platelets. (SOURCE: http://www.nlm.nih.gov)
Blood platelets are colorless, sticky substances that work to defend the body if there is a sudden loss of blood. The platelets clot together with fibrinogen and other vitamins to stop the excessive blood from shedding. However, a rare blood disorder called dysfibrinogenemia can cause deadly complications to anyone suffering from it. (SOURCE: http://www.fi.edu/)
DYSFIBRINOGENEMIA: Often inherited from family members, this condition involves mutations in the gene controlling fibrinogen production. Abnormalities in the fibrinogen affect the way blood clots together in those suffering from this blood disorder; they either suffer from a blood clot deficiency, or they will clot excessively. Dysfibrinogenemia may increase the risk of forming blood clots within the veins (venous thrombosis) or cause a mild bleeding tendency.
WOMEN AT RISK: Women with dysfibrinogenemia may have more at stake with their reproductive system. Pregnant women with the blood disorder are often times unable to carry their pregnancy to full term. Pregnancy complications include first-trimester pregnancy loss, hemorrhage, placental abruption, and thrombosis. Mothers also put their own lives at risk during the birthing process. (SOURCE: http://www.ncbi.nlm.nih.gov)
In addition, women with dysfibrinogenemia could potentially be misdiagnosed by doctors. Due to the nature of the blood disorder, women suffering from it will usually have extremely heavy menstrual cycles and, in some instances, have an unnecessary hysterectomy when the underlying problem goes unidentified. (SOURCE: http://www.wrongdiagnosis.com)
MANAGEMENT: There are blood tests available for those who suspect they may have dysfibrinogenemia, and blood thinners or thickeners may be useful in managing the disorder.
FOR MORE INFORMATION, PLEASE CONTACT:
Henry Ford Hematology/Oncology Clinic
THE FOLLOWING IS AN IN-DEPTH INTERVIEW WITH THE DOCTOR FROM THE STORY ABOVE:
Amr Hanbali, M.D., a hematologist/oncologist at Henry Ford Hospital talks about an approach that helped a woman with a rare disorder give birth to a healthy baby.
What is the name of the disorder the patient has?
Dr. Hanbali: The name of the disorder is dysfibrinogenemia.
And what is it?
Dr. Hanbali: Dysfibrinogenemia is a disorder in which there is a problem in the molecule called fibrin that’s important for clot formation. What happens in this type of condition is the fibrin, which is a very important coagulation factor, has a problem in its function. So, the clot doesn’t form right and that can happen in a way that can lead the patient to bleed or to clot. Fibrin, by itself, is very important because when we look at the coagulation factors and how they meet, they all end up forming the fibrin. When we have a cut we start to bleed. The body recognizes that this cut needs to be closed quickly by itself. One of the signals that are sent to the body is that we need to make fibrin. Fibrin forms like a mesh over the wound to close it. If this fibrin doesn’t work well then that mesh can be soft or weak and then patients can continue to bleed. That’s a major problem. On the other hand, the fibrin may be dysfunctional and will be stronger than it should be and patients can clot more instead of bleeding.
That really helps me understand better because yesterday the patient was telling me that you gave her something to make her blood thicker and then also a blood thinner.
Dr. Hanbali: Right. If we look at the breakdown of this disease, we find that 50% of the patients actually have no symptoms. They have the disorder, the fibrin is abnormal, but they present with neither bleeding nor clotting. 40% of patients present with bleeding and 10% present with clotting. It’s a variable presentation of the disease. Actually, there are different types of the disease and each type is named after the city where it was first discovered. There is a Detroit form. The Detroit form is the one where patients present with clotting more than bleeding.
What is the Detroit form called?
Dr. Hanbali: It’s called Detroit type.
How many different cities are there?
Dr. Hanbali: There are twenty or thirty types. Sometimes, when you see a patient with this disease, you have to be careful because they can present either way, bleeding or clotting. You have to monitor them closely to see what their major presentation is.
What is the risk to the patient without this being diagnosed?
Dr. Hanbali: As I told you, 50% of the patients usually have no presentation, no complications. It is discovered when you do the blood work and you find their fibrinogen is low and you do more testing and you discover they have the disease. But they have no presentations and they can live all their lives without having problems. They don’t need medications. The body is able to adapt in spite of the fibrinogen being abnormal, but it’s ok.
So, they’re not at risk for a stroke.
Dr. Hanbali: Those are the ones that do not have any risks, and they don’t require any treatment.
So 40% do?
Dr. Hanbali: 40% because they present with bleeding and those are the ones that should be treated. If they present with bleeding they should be given the fibrinogen concentrate.
What is the risk if they are not?
Dr. Hanbali: If they don’t get the treatment they are at risk for severe bleeding. Fortunately, even with the ones that have the bleeding form, usually the bleeding is not that severe, but still they are at risk to have serious bleeding and you never know who is going to present with that. So, people can die from severe bleeding, gut bleeding or intracranial bleeding, bleeding in the brain or any other sites.
And then the clotting.
Dr. Hanbali: The clotting is even more serious because patients can clot in the lungs and those are fatal blood clots. Still, even the ones that present with the clotting, it is not a dramatic presentation. It’s not like they are clotting all the time. It’s just at certain high risk situations they can get blood clots. That’s the fortunate thing about the inherited or congenital type. There is an acquired type of this disease and the acquired type is the one where the patients have liver problems, like liver cirrhosis. Fibrinogen comes from the liver. So, if you have a bad liver, the liver doesn’t work, it’s not going to form that molecule, or it's not going to form it in a normal way. In those situations, those patients can have the dramatic presentations and this is a more serious disease, the acquired one and it’s more common. The congenital one is usually a milder disease.
Is the congenital one rare?
Dr. Hanbali: It’s rare. All we know now from literature is that there are 200 to 300 families reported with this disease.
Now, the patient we interviewed -- Jahnea -- lost some uncles to this disease. Would you call her severe?
Dr. Hanbali: She has the clotting type. Her family has the clotting type and based on the family history it’s considered a serious disease in her. And the reason is when we looked at her family history in detail we found (from her maternal side) that multiple family members had blood clots and a blood clot is always serious especially if it happens in the lungs. So, yes we consider that a serious disease in her.
Were her family members diagnosed with this?
Dr. Hanbali: We know her mother was diagnosed. We see her mother.
Was that after the fact with Jahnea, or before?
Dr. Hanbali: It was before because Jahnae came to seek attention because she knew that this ran in her family and she wants to get pregnant and she wanted to see what she could do about that. So, it was known before that her mother has it and other family members have it, so the presentation was clear. I was talking to Angie, our nurse practitioner, and she mentioned that the other family members will be checked for the disease.
Now, without being pregnant what is the treatment?
Dr. Hanbali: Without being pregnant, you don’t need a specific treatment in the routine ambulatory situations. The treatment is only needed in the high risk situations, or if the patient had a presentation. So, let’s say that a blood clot happens, these patients should be put on a blood thinner for the rest of their life, because we know that they are at risk to have another blood clot in the future. But patients who don’t present with a blood clot may be from the asymptomatic group and they don’t require treatment. So, without presentation, without any symptoms, they don’t need a treatment.