Ava (left) and Camden (right). Both siblings have Artemis SCID. Ava has been treated with both a standard BMT and a clinical trial which uses a monoclonal antibody. Camden has been treated with Gene Therapy.
The SCID family showcased this month has 2 children diagnosed with Artemis SCID. The DNA-repair enzyme Artemis is essential for the rearrangement of T- and B-cell receptors. Mutations in the gene that encodes the Artemis enzyme cause Artemis-deficient Severe Combined Immune Deficiency, also known as ART-SCID. This type of SCID was originally described in Athabascan-speaking Native Americans which includes the Navajo.
Artemis SCID is characterized by heightened sensitivity to ionizing radiation and may also have increased sensitivity to the alkylator-based chemotherapy traditionally used for conditioning prior to a Hematopoietic Cell Transplant (HCT). (Chemotherapy and radiation can cause damage to the DNA of all cell types, not just the cells you need to delete. Most normal cells usually recover from the effects of chemo and radiation, but those who are sensitive to alkylator-based chemotherapy and ionizing radiation are more susceptible to the harmful effects and may not have as robust a cell recovery)
Barb: Let’s start by introducing yourself and your family.
Erica: My name is Erica and Terrance is the father of our 2 children. We have Ava who is 10, and Camden who is 4. They both have Artemis SCID. We live in Phoenix, Arizona and this is where Ava and Camden were both born.
Barb: At the time Ava was born, the only newborns in Arizona being screened for SCID were those born on the Navajo Reservation, but you didn’t live there. She was a very sick little girl before she was diagnosed.
Erica: She was born with a fever. That was our first sign, but of course, we didn’t know anything. They put her on antibiotics and kept her for about 5 days in the hospital. Then they said she was okay to come home. We were just living our lives as new parents to a newborn baby, doing life and just having lots of fun experiencing everything all the new mommies and daddies do. Then she started getting sick again and would develop fevers. She developed respiratory infections. We were in and out of the hospital between birth and 6 months.
At around 6 months it got really bad. We went to the ER at The Children’s Hospital. There were a bunch of kids there and we thought it would take a long time, but once they took her vitals those nurses took her back right away. She had a high fever and high blood pressure, and her oxygen level was really bad.
They diagnosed her with RSV and admitted her. Then they said she also had parvovirus (a highly contagious childhood illness) and a bacterial infection. After a week, she wasn’t getting better, and they were questioning everything. They actually came back and told us she was diagnosed with leukemia. It was very traumatic for me and Terrance and our family to hear that our daughter was diagnosed with leukemia. (a form of cancer.)
They were talking about treatment plans, but we wanted a second opinion. Thankfully Terrance’s mom, Ava’s grandmother, works closely with the doctors at Tuba City Regional Health Center, (Tuba City Regional Health Center is located on the Navajo Reservation) and those doctors work closely with UCSF. (University of California, San Francisco is a PIDTC center that has treated many SCID patients, and has significant experience treating Artemis SCID) The doctor from Tuba City went over Ava’s history and called us right away. She asked, “Have you ever heard of SCID?” She contacted UCSF right away and sent them her blood work. Once the UCSF doctors found out Ava could possibly have SCID, they booked us a flight for the following day.
We got connected with so many people that same day, doctors from Phoenix, Tuba City, and UCSF. There were social workers and nurses all coming up saying we need to get everything prepared to get you to UCSF tomorrow. We just left our lives behind, right then and there.
Ava was around 7 months of age when she got her first stem cell transplant (SCT). I was really thankful that I could be her donor. She had chemotherapy before the transplant, and she got my cells on June 6th, 2014. They didn’t have the options for treatment that they have now. An SCT was the only option at that time.
Just before Thanksgiving, she was able to leave the hospital but we had to stay close by. We stayed at the Family House at UCSF because she still needed appointments with the UCSF doctors. After 11 months in San Francisco, we finally got to go home in March of 2015.
We had always had a lot of help from nurses, doctors, and caretakers, but bringing her home was really a lot. It was like bringing a newborn home again. We just had the best team and we had my parents to help as well. Everyone at UCSF helped us a lot, teaching us how to take care of her at home, but we were experiencing a whole new process. She was still on a lot of medications. She was battling Graft vs Host Disease and heart disease. She was on IVIG which meant we were at the hospital every few weeks.
Her engraftment from the transplant was only partial. She didn’t have any B cells and the T cells she had weren’t all that great. She spent 2 years at home. We were finally getting the hang of normalcy for us but we were still isolated of course. We were very paranoid of her getting sick again, but we still enjoyed life. We were wiping everything just like we did in the hospital and telling our families they couldn’t come over when they were sick, but she was able to go to the park and enjoy family being around.
After 2 years of going back to UCSF every 3 to 6 months, they told us that Ava would need a boost. (Another transplant using the same donor) Terrance and I prepared for that. We were afraid of it being like the first time, but they told us not to worry because she was doing fine. (Ava had been very sick at the time of her first transplant and the chemotherapy had also been very hard on her.) They wanted to do another stem cell transplant and I would have to donate cells again.
In February of 2017, we moved back to San Francisco for her 2nd transplant. In 2017 Ava had beautiful long hair, and we knew that she’d lost all her hair during her 1st transplant, so Terrance and I thought she’d lose her hair again. Before we moved to San Francisco we cut her hair off in a little pixie cut that was very cute.
When we got there, the doctors said they had some good news to share. There was a trial going on at Stanford University and they thought we would be interested in this trial for Ava. They called it the C-Kit Trial and they explained to us that she would not need to go through chemo again. (The C-Kit Trial uses a monoclonal antibody to deplete hematopoietic stem cells in patients without the toxicity of standard chemotherapy.) We thought it sounded like a great option for Ava. Terrance, Ava, and I all went to Stanford to meet the doctors there. They took good care of Ava, and they looked out for Terrance and me too. That was nice because we were just so far away from home. We were so fortunate. They made us feel comfortable.
Everything went very well with the 2nd transplant. They infused my cells into her, and she did so good. There were no side effects, no fever, no nausea, nothing. She had plenty of energy during and after the treatment.
We stayed about 3 weeks at Stanford and then we went back to UCSF for all of her checkups and follow-ups. We didn’t go home until January of 2018 because Ava got sick at the end of October.
Barb: How would you say her immune system performs today?
Erica: She’s still lacking B-cells, even after the second transplant, and gets IVIG every 4 weeks, but she’s doing really well otherwise. She’s growing. She’s so tall. She enjoys just being outside and hanging out with her family and friends. She’s doing good in school and has a lot of friends. Her teachers are helping her with extra math and reading. She’s going into the 5th grade next school year.
We recently had a doctor’s appointment at UCSF, and they said that potentially she will need another booster transplant, so we’re exploring our options. This time we want to include Ava in the decision because she’s getting older, and we share everything with her. Right now, we are looking at next year to possibly do her 3rd transplant.
Barb: Camden was born in 2019, 2 years after Ava’s 2nd transplant. How did you plan for another baby?
Erica: When I found out I was pregnant again I was excited, but the first thing that came to my mind was, “Oh my God, what’s going to happen now?”
We knew there was a chance we could have another baby with SCID. Ava had an appointment at UCSF soon after I found out I was pregnant. At the appointment, we told the doctor, “We have some news to share with you.” He said, “Don’t tell me you’re pregnant!” Then everyone came in and they were all very supportive and were there for us.
We decided not to test for SCID until the baby was born because there are risks to the test. (amniocentesis and chorionic villus sampling) We decided to just enjoy the pregnancy and enjoy having another baby coming into this world.
Camden was born in Arizona in December of 2019. He wasn’t sick at birth, had no fevers like Ava, and he was a total mama’s boy right from the start. We had blood tests done on him and then a few days later they called and said that he tested positive for SCID. We didn’t want to accept the news and we wanted them to do the test again. It was really hard for us to come to terms with it. We were heartbroken.
Of course, we knew what we had to do, but now we had Camden and Ava. Also, Terrance was working in Arizona, so we had to split up for the moment. Camden and I went to UCSF while Terrance and Ava stayed behind for work and school. Our families helped a lot with both Ava and Camden.
For Camden, we talked about treatment options. We discussed a transplant like Ava’s first treatment, the C-Kit Trial like Ava’s second treatment, and they talked about the new Gene Therapy trial too. This time we had all these options to consider! Just knowing how Ava had done with her first transplant, we didn’t want to go that route. It had been so harsh on her body, and we didn’t want to put Camden through that. We thought about the C-Kit trial too. When they explained the Gene Therapy Trial to us, we said, “This sounds like a good option”. We both agreed that we’d do the Gene Therapy Trial for Camden.
My mom came and helped me in San Francisco. She quit her job to be there. It was a big help having her there. We would switch-off and I would go out and get some fresh air. Terrance and Ava would come back to visit. But then COVID happened and that was a big change for us. Camden spent the majority of 2020 in the hospital and didn’t get discharged until August.
Barb: Did Camden ever get sick?
Erica: He did pretty well in the hospital. It wasn’t like Ava’s first experience. With Camden, we were right there at UCSF in strict isolation. Everybody was gowning up from head to toe. I think that really helped keep him healthy and in good condition.
Then once COVID started no one could travel and only one person could be in Camden’s room. I just stayed in the room.
Barb: How would you say Camden’s immune system is today?
Erica: He’s doing good. We just did some labs at UCSF, and everything seems great so far. He is still on IVIG. He and Ava are on the same schedule, so they go together every four weeks to the hospital for that.
After gene therapy, he did have Graft vs Host disease (GvH). (A condition that occurs when donor bone marrow or stem cells attack the recipient.) The doctors had said there was very little chance he could get GvH, but he did. The doctors were very shocked. He also got hemolytic anemia at the end of 2020.(Hemolytic anemia “HA” is a condition that can be caused by GvH after a stem cell transplant. HA occurs when the bone marrow doesn’t produce enough red blood cells to replace the ones that are destroyed.) He was on a treatment plan for that for almost a year, then he got it again around the beginning of this year (2024).
His body went through a lot with the medications to combat the hemolytic anemia. They made him gain weight and they really affected his emotions and his development. He developed rashes on his face. Those medications took a lot out of him. He’s off that medication now and IVIG is his only medication.
Now, he’s doing pretty well. He’s growing. He exercises. He loves running and playing outside with friends. He has a lot of energy.
Barb: You’ve had to travel out of state to UCSF for appointments for 2 children. Is that difficult to coordinate?
Erica: A lot has changed over the last 2 years. I’m working and Terrance has his own company, so his schedule is very flexible. My family helps out a lot too. They can take care of Ava if I have to go to San Francisco for Camden and when we can, we all go together to San Francisco. My work is also very flexible, giving me time off to travel.
Barb: You’ve experienced 3 completely different methods of treating Artemis SCID. What advice would you give the parent of a baby who is newly diagnosed with Artemis SCID?
Erica: I would tell them to go through all the options. I think they should look at every option and go through them with the doctors. I had so many questions when I was talking to doctors. I looked at other family stories. Joining the SCID Angels Facebook Group really helped too. We got to know other families who went through gene therapy, C-Kit, and bone marrow transplants. I think you should get all the resources you can. Talk to the social worker, get connected with other families at the hospital, learn their stories and their journeys. Come back to the doctors with all the questions you have. There’s no dumb question. Don’t be afraid to ask and don’t think it’s not a good question. Just try and do all the research you can. There’s a lot of help out there. I was never a people person. I was always the quiet one, but once Ava and Camden were diagnosed, I broke out of that shell. I was willing to talk with anyone who could help us.
Barb: What can you say you’ve learned about each of the 3 treatment options?
Erica: I would say gene therapy was the best option for us, but it wasn’t available at first. All of the treatments can have some long-term effects, and you have to keep that in mind, but Camden’s immune system is actually better than Ava’s.
I’m just glad they’re able to advance more treatment options for kids. I’m glad that with gene therapy you can actually use the patient’s own cells so there’s no struggle to look for a donor. I like that about gene therapy.
Barb: Is there anything else from your journey you’d like to share or mention?
Erica: This is for the parents. The doctors, nurses, everyone is there for the child, but the parents really have to take care of themselves, mentally as well as physically. Couples lose that connection with each other. It’s hard, especially if they are separated from one another. It’s a lot to go through. We were just our own little team, and we were trying to keep everything together for our child. I feel like parents need help to get back to normal life, especially if they’ve had the trauma of PTSD to endure while their child was sick in the hospital. I think that the parents’ mental states, as well as their emotional and physical health, are so important because being a medical mom and dad really sucks you in. It affects everything.
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