A Family's Journey

The Phone Call

Aliyah-Photo-8 Aliyah was born in June 2009. My husband, Gary, and I found out Aliyah had sickle cell disease through her newborn screening. At 2 days old, I got the news by phone, from a doctor I didn’t know. We have an older daughter together who has sickle cell trait so we knew we were both carriers of the sickle cell gene and knew there was a 1:4 chance Aliyah would have the disease. As I sobbed, I clicked and read and clicked and read deep into the Internet about Aliyah’s condition. An hour after hanging up the phone, I had already mapped out what I believed Aliyah’s life would be like with sickle cell disease. Her joints and limbs would hurt all the time. She would spend her life on prescription painkillers. She would struggle to participate in sports, swim, or dance. The altitude of airplane travel would send her to the hospital. She would be hospitalized frequently with pain crises and strokes when her misshapen red blood cells got stuck in her blood vessels. Over time she would have organ damage. She would eventually need surgeries to fix or replace parts of her body damaged by being deprived of oxygen. She would have a hard time bearing children. She would not live past 50.

"As I sobbed, I clicked and read and clicked and read deep into the Internet about Aliyah’s condition."

After the initial shock of the news, and after meeting with her hematology team at Mount Sinai Hospital for the first time, I was more hopeful. Gary and I even thought that maybe, despite Aliyah having sickle cell SS–generally considered to be the most severe form of sickle cell—she would miraculously not experience symptoms of sickle cell and would lead a healthy life.

This was not the case.

Symptoms

Aliyah began experiencing sickle cell symptoms at 1 ½ years old. Her spleen became enlarged often, sending her to the hospital three times before her second birthday. Sometimes it got so big we worried it would pop.

"Basically, Aliyah would likely never be healthier than she was at two years old."

This is a fairly common complication of sickle cell. The spleen works as a filter. It identifies the unhealthy red blood cells and filters them out of the blood stream. In people with sickle cell SS, the unhealthy cells can account for upwards of 90% of all red blood cells, making the spleen work non-stop. Because sickle cells are irregularly shaped and sticky, once filtered into the spleen, they get trapped, causing the spleen to swell like an overfilled water balloon. Each time this happened, Aliyah needed multiple transfusions of healthy blood to help the spleen function normally again. This required 3-4 days in the hospital. To mitigate this ailment—called a splenomegaly—Aliyah’s doctors started her on chronic blood transfusions every three weeks. This helped, but our medical team made it clear that this wasn’t a permanent or even a long term fix.

Multiple blood transfusions cause a buildup of iron in the blood, which can cause organ damage. The medication, ExJade, removes the excess iron. This is a difficult medication for a toddler to take. It’s a chalky pill that, ironically, tastes like iron. Dissolving it in chocolate milk was the only way Aliyah would take it.

Aliyah’s body used the transfused blood quickly so we needed to increase the frequency of blood transfusions to every two weeks. Aliyah was eventually going to need her spleen removed, our hematologist said. When this happens, she would also stop receiving blood transfusions, which were mostly preventing her from having sickle cell crises and other health problems. Our doctor told us she would start taking Hydroxyurea, a relatively new treatment for sickle cell disease that was leaps and bounds better than previous sickle cell treatments. Still, our doctor said, it was not a cure, it would lose some of its effectiveness over time, and she would need to take it forever. Basically, Aliyah would likely never be healthier than she was at two years old – with a deteriorating spleen, having received dozens of blood transfusions, multiple hospitalizations, tons of antibiotics, painful needles, disgusting medication, and a tired body.

An Alternative?

"It was around this time that our hematology team introduced us to the idea of a bone marrow transplant."

It was around this time that our hematology team introduced us to the idea of a bone marrow transplant. Our older daughter, Nyala, was tested to see if she was an HLA (Human leukocyte antigen) match, but wasn’t. The other option, they said, was to have another child who would be a match. Our doctor and nurse practitioner broached the subject delicately, posing the option only if we were open to the idea of having another child. They explained that we would need to conceive this next pregnancy via in vitro fertilization (IVF) so that we could use a method called pre-genetic diagnosis (PGD) to test the embryo before pregnancy to ensure that the embryo 1) did not inherit two S genes and 2) was an HLA match for Aliyah. It is a long and expensive process, taking years to achieve and averaging tens of thousands of dollars, they said. But, another family at our clinic had just gone through it and it had been successful. We imagined a healthy future for Aliyah. We left the conversation curious but feeling like this option was financially out of our reach. We put the idea in the back of our minds.

About six months later, I attended our clinic’s holiday party. While standing on line, I overheard a conversation between the mother in front of me and the young man behind me. They were sharing their transplant stories. The young man received bone marrow from an older family member and the mother’s young son had received bone marrow from her youngest child, who she conceived through IVF to ensure an HLA match for her son. I asked her questions about the procedure and the costs. The family raised $50,000 from friends and family and the transplant had worked.

"We thought, a life with sickle cell disease comes with pain and complications, but it’s still life. We wanted assurance that the risks were worth it."

Making the Choice

I went home and told Gary what I’d learned. For the first time, Gary and I saw transplant as a real possibility. We talked to our families about it. We talked to our medical team about it. There are risks and side effects involved, of course, and it was difficult to move past these. We were afraid to risk Aliyah’s life by choosing a bone marrow transplant. We thought, a life with sickle cell disease comes with pain and complications, but it’s still life. We wanted assurance that the risks were worth it. We didn’t get that assurance, because no doctor can give that, but our doctor said one thing that I have never forgotten.

She said that Aliyah had a greater chance of being alive for the next ten years without having a bone marrow transplant, but that she had a greater chance of being alive beyond that if she had one.

We asked if we could delay transplant until we were sure she actually needed it. She reminded us of what she said before, that Aliyah’s health would decline as she got older and that if we delayed the transplant until her body started breaking down, Aliyah would no longer be healthy enough to withstand the transplant and would face an increased risk of death. Her best chance at a healthy life was to receive a bone marrow transplant while she was young and healthy.

A month later, we met with a fertility specialist and started the process of conceiving an HLA-matched sibling for Aliyah.

"We had a hard time choosing to strip our daughter of her ability to bear children. Our daughter who loves dolls and who told us at four years old that she wants to be a mommy when she grows up."

Our decision was not without continued thought and hesitation. Unlike acute illnesses that require urgent medical decisions, planning for a bone marrow transplant required making decisions about ailments that hadn’t yet happened. It required assuming the worst for Aliyah’s future living with sickle cell disease while also hoping for the best. For one, the chemotherapy Aliyah would receive as part of the bone marrow transplant would likely leave her infertile. We had a hard time choosing to strip our daughter of her ability to bear children. Our daughter who loves dolls and who told us at four years old that she wants to be a mommy when she grows up. But, living with sickle cell also does not guarantee successful childbirth. This dilemma came up again and again. How do we, as parents, choose to risk our child’s present in order to save her future? And, in doing so, how do we choose to strip her of her reproductive health in order to give her better overall health?

It took almost a year of preparation—consent forms, consultations, DNA testing and other lab work—to start our first round of IVF. The odds of siblings being HLA matched is 1:4. The odds of two people with the sickle cell trait conceiving a child with sickle cell disease is also 1:4. We needed an embryo to beat both odds.

Our first IVF cycle produced one healthy, matched embryo. The embryo carried one S gene, the sickle cell trait. This wasn’t preferred for transplant, but it was acceptable. I miscarried this pregnancy within a week.

We tried again. The second round of IVF failed to produce any matches. We were so invested; it felt like a huge loss to give up. So we tried again. We succeeded on our third round. This embryo was a perfect match and did not carry any S genes.

"This dilemma came up again and again. How do we, as parents, choose to risk our child’s present in order to save her future?"

Vacation

During the first trimester of pregnancy, we took a family vacation to Virginia. Aliyah was 4. She had surgery just a few months earlier to remove her spleen and was no longer receiving blood transfusions. She was taking Hydroxyurea but it hadn’t started working yet (it takes several months to start producing fetal hemoglobin).

As soon as we got to our vacation destination, I recommended we go swimming, since the weather was so warm and sunny. We did, and Aliyah had a great time for about 20 minutes. Then, she suddenly started to not feel well. Within minutes she was complaining of pain in her arms and legs. By the time we got to our hotel room she was howling in pain. We spent hours on and off the phone with our doctors, trying to ease the pain. It remains, to this day, one of the worst experiences Gary and I have had as parents. We were completely helpless as our four-year-old screamed at us to stop touching her. Every part of her body was in crisis and no amount of Ibuprofen, Tylenol, baths, or massage could ease it. Finally, in the middle of the night, we took her to the local hospital, knowing that severe sickle cell crises can take days to subside.

We spent our entire vacation in the hospital.

Aliyah received dose after dose of morphine for the pain and when we got discharged, we were sent home with Tylenol with Codeine and OxyCodone. It was a relief to know we had such strong pain relief at our disposal in the event Aliyah had another pain crisis. It was also scary that our four-year-old required addictive pain relief. For the first time, our family truly understood what it meant to live with sickle cell.

"It remains, to this day, one of the worst experiences Gary and I have had as parents. We were completely helpless as our four-year-old screamed at us to stop touching her. Every part of her body was in crisis and no amount of Ibuprofen, Tylenol, baths, or massage could ease it."

The spleen problems, the ER visits, the fevers, the needles, and the surgery seemed like nothing compared to the pain she experienced that day. It changed us.

There was no more swimming for Aliyah. There was constant checking of her hands and feet for swelling. There were multiple layers of clothing on a mild winter day, concerns of overheating during the summer, and constant water breaks to prevent dehydration. We literally followed her around with a water bottle.

We’ve met many families living with sickle cell, each with unique but familiar journeys. There are several types of sickle cell, which have varying levels of severity. But, even among people who have the same form of sickle cell, the severity of symptoms varies from person to person, even among family members. Therefore, it is understandable that some families are interested in bone marrow transplant and some are not. Each of us weighs the costs of such a huge surgical procedure against the costs of living with sickle cell disease. For our family, sickle cell complications placed significant limits on Aliyah’s life—and on our whole family. These limitations included big things like Aliyah not being able to swim in any pool below 90 degrees (standard heated pools are kept at 82-84 degrees). It also included small things like the pain Aliyah experienced whenever we removed adhesive from her skin—which was constantly.

This severe sickle cell crisis in Virginia affirmed for us that we were choosing the healthier future for Aliyah.

"This severe sickle cell crisis in Virginia affirmed for us that we were choosing the healthier future for Aliyah."

The Transplant

In April 2015, our son, Elijah, who was 1-year-old at the time, donated bone marrow for Aliyah. We took a chance and chose a reduced intensity bone marrow transplant for Aliyah in July 2015. It’s called that because it uses less toxic chemotherapy and is, therefore, less harmful on the body. We were hoping to have the best of both worlds— minimum risk and maximum healing. But the procedure was still very new and the results showed mixed success rates. Unlike standard chemotherapy treatment that wipes out the body’s immune system, the reduced intensity chemotherapy only suppresses the immune system (the equivalent of putting it to sleep). The transplant was not strong enough and Aliyah’s sickle cells returned.

Elijah donated bone marrow, once again and Aliyah had a second transplant in April 2016 using the full strength chemotherapy to wipe out her immune system. It was difficult to go through transplant again. Although we had the benefit of knowing what to expect, we had the emotional weight of feeling like this should have been over by now. A small comfort this time around was that, for 2 days, Elijah got to stay in the hospital with Aliyah as he "recovered" from his procedure. I use the term "recovered" loosely because an hour after he woke up from the anesthesia, with no additional pain medication he bolted down the hall and ripped the IV out of his vein. He just wanted to play.

We can finally say

At six months post-transplant, we asked our doctor if we could consider Aliyah cured. Our doctor said we should wait until she returns to school to celebrate. She returned to school almost exactly one year post-transplant. We were so preoccupied with life that we forgot to celebrate the milestone. And it is significant. Aliyah has passed all of the major recovery milestones successfully. So, yeah, I guess we can finally say it. Aliyah is cured.

"So, yeah, I guess we can finally say it. Aliyah is cured."

Toni and familyAliyah now goes two months between medical appointments—the biggest gap between appointments since birth. She is down to one medication, Penicillin, a preventative medication since she has no spleen. Cold pools are no longer a risk for her. Neither is cold weather. Aliyah spent the entire recent, chilly spring refusing to put on a sweater because, she said, she likes to feel the wind on her skin. We were never able to let her do that before. Recently, when we were in a hurry, Aliyah sprinted without hesitation. She wouldn’t have been able to do that before.

We have yet to start the process of assessing her reproductive health. She may need to take hormone replacement medication; she may experience early onset menopause; she may experience challenges if/when she wants to have children. But she may have anyway—many people do. And there may be other side effects from the transplant that we will have to work through.

"she likes to feel the wind on her skin. We were never able to let her do that before."

We also have yet to see all of the positive benefits of her transplant. Every day we have to unlearn some old fear from before her transplant. We have to remind ourselves that she can swim in cold pools. We have to remind ourselves that a fever does not necessitate rushing to the ER. We have to remind ourselves that playing outside without gloves will not cause a pain crisis.

The sickle cell community is broad and diverse. We all have our own needs, concerns, desires, beliefs and lifestyles. We all will not choose a bone marrow transplant. But, our family’s hope is that sickle cell bone marrow transplants will be researched enough, funded enough, and publicized enough that every family who would choose it has the information, access and support they need to choose it.

Toni Smith-Thompson