A mother’s first pregnancy is equal parts thrilling and terrifying since everything is new and unknown. The second time around, however, is supposed to be easier on the nerves since a mother knows what to expect.
When a Hawaiian mother found out she was going to be a mother for the second time, she was thrilled and thought she knew exactly what to expect. Yet a few weeks later, she was left blindsided by a heart-breaking discovery that left her with an impossible choice to make. Thankfully, a cutting-edge treatment offered her another way out…
Joyous News
In 2017, Nichelle Obar and her husband, Chris Constantino, discovered they were pregnant with their second child and the couple from Kauai, Hawaii, were thrilled that their 3-year-old son, Gabriel, would have a little brother or sister to play with.
The Expectations
40-year-old Nichelle had a smooth pregnancy the first time around, so she expected her second pregnancy would be the same. At first, everything seemed to be going to plan, however, doctors noticed something unusual at their 18-week checkup…
The 18-Week Checkup
Nichelle and Chris had previously been told that they were going to have a baby girl, so when they went in for another ultrasound at 18-weeks, they expected to see their healthy baby girl growing bigger and stronger. Sadly, that wasn’t what they saw.
The Ultrasound
During the ultrasound, doctors explained that their baby girl’s heart was twice the size it should have been at that point in the pregnancy. According to the doctors, there was fluid building up around her lungs and other organs…
A Deadly Blood Disorder
Doctors performed some tests, which confirmed that Nichelle and Chris were both carriers of thalassemia, a blood disorder where abnormal red blood cells can’t carry oxygen throughout the body. Doctors explained that although they are both healthy and unaffected by the condition, their children are at risk of inheriting it from them.
Alpha Thalassemia Major
According to the doctors, since Nichelle and Chris are both carriers, any child they conceive has a 1 in 4 chance of inheriting the disease. Their first son was thankfully healthy, but their unborn daughter seemed to have inherited alpha Thalassemia major, the most severe type…
A Bad Sign
Doctors and a genetic counselor sat down with Nichelle and Chris and explained that their baby girl, who they already named Elianna, was showing signs of severe anemia as the blood flow in her brain was much faster than normal.
The Prognosis
Elianna had survived to the second trimester, but the genetic counselor told the devastated parents that she had little to no working hemoglobin, which would normally be carrying oxygen throughout the body. Elianna was literally suffocating and she wouldn’t last much longer…
On The Verge Of Heart Failure
“Her heart was working so hard,” said Nichelle, who was heartbroken that she would most likely lose her daughter. As the team of doctors explained, babies with thalassemia usually don’t survive the pregnancy and die from heart failure.
Mirror Syndrome
Nichelle was also warned that her own life was in danger. As the baby’s condition worsens, a mother can experience mirror syndrome where she becomes sick with extremely high blood pressure and other complications that can be deadly…
Overwhelming Risks
And if the baby does somehow survive until full term, they are often born with severe brain damage from not getting enough oxygen throughout the past 9 months. For those reasons, most mothers carrying a child with thalassemia are told to terminate the pregnancy.
A Heartbreaking Choice
“Everyone now is told to abort,” says Dr. Elliott Vichinsky, the founder of the Northern California Comprehensive Thalassaemia Centre at the UCSF Benioff Children’s Hospital Oakland. Dr. Vichinsky is now working with Dr. Tippi MacKenzie, a pediatric and fetal surgeon, on a study looking at new treatment options for babies with thalassemia…
The Choices
According to Vichinsky, many doctors tell parents that there are no treatment options available and suggest terminating the pregnancy, but that isn’t true. “We understand families should make that decision if that’s right for them. We’re just saying they should be given the information that there are other options.” 1 option is performing blood transfusions throughout the pregnancy into the umbilical cord to save the baby and prevent brain damage. After birth, the child will need regular transfusions or can receive a bone-marrow transplant.
The Right To Know
According to Vichinsky, many doctors fail to mention these options because they can be expensive, are not guaranteed to work, and come with a variety of complications. “These are not unwanted pregnancies,” Dr. MacKenzie says. “We’re as pro-choice as you get. These are wanted pregnancies for whom therapy could be offered. And you can have a choice to terminate or you can have a choice to have therapy, but the bottom line is you have to be given those choices. And we recognize that’s a very personal choice, but we as doctors need to be providing you with those choices…”
A Well-Informed Decision
Thankfully, Nichelle and Chris were told those options. They were aware of all the risks but decided to proceed with the pregnancy. The couple’s genetic counselor also told the couple about the study that Dr. MacKenzie was leading at the UCSF Benioff Children’s Hospital in San Francisco, where they were experimenting with performing bone-marrow transplants in the womb.
The Study
According to the study, performing a bone-marrow transplant before birth can minimize the effects of thalassemia. By using the mother’s bone-marrow, there is also a smaller chance it will get rejected since the baby’s immune system isn’t fully developed…
An Experimental Treatment
In the normal treatment route, babies are given transfusions until birth and then undergo the bone-marrow transplant. By that point, their immune systems are stronger and they need chemotherapy to destroy their immune systems, which is dangerous especially when there’s still a chance the transplant will be rejected. Even though the study was still experimental, Nichelle and Chris decided to go ahead with the cutting-edge procedure.
A Cutting-Edge Procedure
When baby Elianna was 21 weeks along, she underwent her first blood transfusion and immediately showed signs of improvement. After that, stem cells from Nichelle’s bone marrow was injected into a vein in the umbilical cord, and she had 4 more blood transfusions…
The Birth
Elianna was born on February 1, 2018, but still needs blood transfusions every 3 weeks. “It is too early to say how effective the stem cell transplantation will be, but we are encouraged by how well she and her mother have tolerated the treatment,” Dr. Mackenzie said. So far, Nichelle’s stem cells have been found in Elianna’s blood. Only time will tell if they will cure her disease, or if she will need to undergo a traditional bone-marrow transplant.
Endless Possibilities
“I’m thrilled that it was safe and it was feasible,” Dr. MacKenzie added. If the treatment does cure Elianna, the same non-invasive treatment could potentially be used to cure hemophilia, sickle cell anemia, and other hereditary disorders previously thought to be incurable.
Unborn Baby Receives Breakthrough Treatment Saving Mom From Impossible Choice is an article from: LifeDaily