Seersha, ADA SCID, (middle) with her two older siblings, Skylar (left) and Stephen (right)
You can’t put a price tag on my daughter’s life!
This month we talked with Shayla, the mother of Seersha. Shayla and her family were forced to put their lives on hold as they waited for the saga between Orchard Therapeutics and the University of California, Los Angeles (UCLA) to unfold over an investigational treatment. (For more information see the article “Can you set the price on a child’s life?“)
Barb: We’re here today to talk about your daughter Seersha. Her name is beautiful but very unique. Can you tell me about it?
Shayla: It’s an Irish name which means freedom. It is pronounced sɪər-shuh. The original spelling is S-A-O-I-R-S-E, but no one could say it correctly, so we spelled it phonetically, but people still mess it up.
Barb: Can you introduce us to the rest of your family?
Shayla: Skylar is the oldest. She’s 11, almost 12, and in middle school. Then there’s Stephen. He’s nine. My husband is Stephen also. It is a generation name, so they both are Stephen James. My husband is IV and my son is V.
Barb: How old is Seersha now and what is her form of SCID?
Shayla: She’s 6 and has ADA SCID.
Barb: Wasn’t she picked up by newborn screening in Hawaii?
Shayla: My husband is in the military. Seersha was supposed to be born in Alabama and I feel like she was the most miracle child ever because at the time Alabama wasn’t testing for SCID. I was 36 weeks pregnant, and my husband received orders to go to Hawaii. The doctors said, “You’re safe to fly. You’ve had two 41-week inductions. You can go.”
We were in Hawaii for literally two weeks. We moved into the house two days before she was born. Our truck showed up the day before she was born. I didn’t even have the car seat open. My parents arrived the day she was born. She came on her own in three hours. She was the perfect end to our family. Then, of course, her newborn screening test came back positive for SCID.
Everything that needed to go right to have our SCID baby safe just happened before we even knew about SCID. She was born in Hawaii instead of Alabama, so she was diagnosed early. It was just a domino effect. We went to UCLA. At that point, we didn’t know what form of SCID she had. When we brought her in, Dr. Butte and Dr. Kohn were doing a little bit of their own testing and were already suspicious that she could have ADA SCID. Then because we went to UCLA, gene therapy was on the table. She just had this perfect setup to have the life that she needed to have.
Barb: How old was she when she started Enzyme Replacement Therapy (ERT)? (ADA SCID is the only form of SCID where Enzyme Replacement Therapy can keep some patients healthy for an extended period. However, ERT does not work well for every ADA SCID patient.)
Shayla: She was four weeks old. We were in the hospital for 55 days the first time and she started all her prophylactic medicine at four weeks and then we went home (to my parents’) about two weeks later.
Barb: Was she on Immune Globulin Therapy (IgG) and ERT at that point?
Shayla: Yes, she was on sub-Q IgG. (Immune Globulin Therapy delivered via small needles under the skin rather than via IV) We were doing everything at home.
Barb: Did she stay on both drugs until she received gene therapy?
Shayla: Yes, and she’s still on sub-Q IgG currently.
Barb: Her gene therapy was delayed when Orchard shut down the ADA SCID Gene Therapy Trial. Where was she on the list of patients to receive gene therapy?
Shayla: When it shut down in June of 2020, she was three and a half years old, and she was 2nd on the list of patients waiting to receive gene therapy.
Barb: So how did you and your husband feel when you found out the trial had been shut down?
Shayla: Well for about a week it was devastating and terrifying because you know she was born in Hawaii and not California. She had been air-flighted to UCLA, and we had to move from Hawaii to California. We moved to California so that we could be here for the trial, and she could have these doctors. My husband had to receive special permission to move. He put his career on hold so we could do this.
I was mad because as it was explained to us, Orchard stopped the trial to save money. It was just like they (Orchard) had said my daughter’s life is not worth the money. You can’t put a price tag on my daughter’s life! We were mad and then we ended up contacting Dr. Kohn and asked what we should do. Should we look for a donor? Should we check the registry again? He told us that this was his life’s work, and he was going to find a way to do it (treat Seersha with gene therapy). He said to just be patient and as long as Seersha remained stable they were going to figure this out. We had already moved to California for him, so we said “Okay, We’ll ride it out.”
Barb: What happened with your husband’s career at that point?
Shayla: The Covid year, 2020, was such an odd year. He had volunteered to go deploy so that he could do his job and we could stay in California. Then he could come back and be stationed in California. That was the deal that we made, but it was made when she had a date for gene therapy. We thought she’d get gene therapy, he’d deploy, it’d be the perfect timing. Then COVID happened and his deployment was pushed back about 3 months because we weren’t allowed to travel. Then while he was gone, I got the phone call that the trial was canceled.
The kids were not in school, my husband was deployed, and my daughter’s trial was now canceled. So, for about a week there, I didn’t think it could get more stressful than that.
Barb: At least you had all your kids at home, in your personal isolation bubble to help keep her safe.
Shayla: The only good thing was when COVID happened and nobody else could find Clorox wipes or hand sanitizer, I had a drawer stocked full of that stuff.
Everyone was talking about the proper way to wash your hands and I was like, “Wait, you don’t know how to wash your hands? Okay, well, now I’m more terrified as a SCID mom. You don’t know how to wash your hands!”
Everybody was panicking. And I was like, oh, “Welcome to the SCID life.
Barb: She was 3 and a half when the trial shut down. How old was she when she was finally able to start the trial?
Shayla: She was three when it shut down. She was five when she went into treatment.
Barb: Where was your husband when you found out that she was going to be able to have gene therapy?
Shayla: He was home. The minute we started getting actual dates again, he went to his chain of command and told them. They allowed him to work from home for a little bit so that he could come to the hospital with us.
I think it was around Christmas of 2022 that we got the official call saying the trial was restarting. For most of 2022, we had been in talks (with the doctors) while they were seeking approval and grant money and waiting on those. Then the first patient was called, and then us. It was In February 2023 we signed consent forms and started the process to verify she was healthy enough to begin the therapy.
April was her stem cell retrieval. My parents watched our older two children for the week that her stem cells were collected so we both could be in the hospital with her that whole week. And then they did the same thing for that first week when she got the chemo and her stem cells. She got her new cells on May 26th. My husband was with us that entire week because it was such a big deal, he took off work for those. After that, he visited us twice a week in the hospital because again, our older children were in school and had family support.
Barb: You said it was your parents who stayed with your older children? One of the hardest things is to juggle what to do with your children at home and keep their lives somewhat normal at the same time.
Shayla: When we moved from Hawaii, my parents lived here where we live now. My husband and I both went to high school here. It has worked out nicely because my parents live two hours away from UCLA. We lived with them for nine months.
Barb: When was she discharged?
Shayla: We were discharged on June 26th, 2023.
Barb: You said she is still on sub-Q IgG?
Shayla: Yes, I think the protocol is that her B cells and T cells both have to be above 200. It was in November that we had her last blood draw. Her counts were good and we could have stopped the sub-Q IgG, but it was the beginning of December with cold and flu season. My other 2 kids were in school, so the doctors wanted to be safe. If they were okay with continuing it, we were okay with it.
Barb: Do you feel like the military was helpful in your situation?
Shayla: Oh yes. We had so much help, especially when we left Hawaii. The geneticist there at Tripler Army Medical Center in Hawaii really helped. He said, “I’ve called all these places. Do you want to go to this hospital or do you want to go to UCLA?” We said we definitely wanted UCLA because our family lived so close. He was able to get a flight arranged and then for the first two months, he was in conversations with all of our doctors at UCLA because he just wanted to follow along. So, they were extremely helpful.
Barb: So, who was your biggest advocate during the time you were waiting for the gene therapy trial to reopen?
Shayla: Dr. Kohn and Dr. Butte both. I know that we’re in a unique position because she goes to UCLA and they are her primary immunologists. Her regular immunologist at UCLA is Dr. Butte. So, after a visit, Dr. Butte would send Dr. Kohn an email and say, “Hey, I just saw Seersha, what is the latest information? Is there anything I can tell them?” Anytime we thought she was sick or if anything needed to happen, both of them were at our disposal. And I know that’s not exactly normal because not everybody’s at UCLA.
Then when the trial was canceled, we talked to Dr. Butte and Dr. Kohn. There was always an open line of communication. They were saying, “Hey, we’re going to figure this out.” So, it felt less stressful because we had both of them in our corner.
Barb: How much do you think Seersha understood of what was going on while she was in isolation and then when the gene therapy happened? Did she understand what a unique opportunity it was?
Shayla: I think she did understand because she’s always so curious. She learned to flush her own (IV) line. The nurses would come in and she was ok with everything. She would tell them, “Hey, we’ve got to make sure there are no bubbles in there.” And constantly she’d say, “Oh, you’re going to flush the line? Let me do it.” One day there was a new nurse who said, “No I don’t think you can do that”. I had to tell her that she’d done this before, and they’d all taught her how to do it.
She’s very curious and we have talked about why she’s different than her brother and sister because my children play sports and they can do sleepovers, as long as no one is sick, and they go to school. Seersha is home-schooled. So, she understood that she couldn’t be near people and even now that we’ve loosened up a little bit and she makes friends, she’s still careful. She’ll say, “You can’t be near me, not in my face.” When I hear that I think, “Oh that sounded really rude.” “I’m so sorry,” I say, “She’s post-transplant”. Then they understand. She and my older kids are very aware, they’re like, “Mom, there was somebody sick at school. I stayed away from them.” and I’m thinking, “Oh thank goodness. I’m so glad.”
Right before she went into the hospital for the trial, she asked Santa for a unicorn suitcase so she could take her stuff to the hospital. So, she’s always been very aware of “when I’m better I’ll get to do these things.” She says, “I’m going to do dance class, I’m going to do jiu-jitsu, I’m going to play softball, I’m going to Disney World, and I’m going to a Dodger game.” So as soon as she’s cleared, she’s got plans. I’m thinking, “Good to know. We are going to do that!”
Barb: Do you still feel like you have to be more protective?
Shayla: I’m extremely protective, especially with RSV. She’s only been sick three times and I’m on top of it. But when my son brought home a cold and it ended up being RSV, we missed it, and she got sick.
She got RSV right before Christmas. It was terrifying but the doctors were excited because she had a 103-degree fever. She had never really had a fever before because it’s an immune response. (The fever indicated that her new immune system was responding.) We took her in, but urgent care misdiagnosed her. So next we took her to the emergency room. They said, “She’s RSV positive,” and they were on the phone with UCLA. The doctors at UCLA wanted her to have antibiotics before sending her home but they were so glad it was viral. They checked her blood counts and said because she wasn’t neutropenic, she could ride it out at home. I’m so glad she’s my last baby because if she had been my first baby, I probably would have panicked taking her home.
We are still cleaning everything, cleaning remotes, and cleaning lights. I don’t know how long it’s going to take me to get over that.
Barb: So, what do you think you learned through it all? Not just medically, but about life or kids?
Shayla: My view of normal has completely changed from my first two kids. When we had Skylar, we were going to the movies. We were going to museums. “Oh, her pacifier fell on the floor. It’s going back in her mouth. It’s fine.” Everything was “Normal”.
Since we had Seersha, my husband, and I hate that word. We don’t like the word normal anymore because who’s normal? Everybody’s unique. Everybody has these idiosyncrasies and little tics and everything else and so it has widened our view of how rare everybody is.
Then it’s not just like the fact that our daughter does have a rare condition, but we see how our older children interact with her and now how they interact with other people. I get compliments on my son all the time. I’m told how he helps many of the special education students. He’s so good with them and when they ask why, I tell them about Seersha. So that’s now their normal but for us, we hate that word. We also hate the word “can’t”. “What do you mean you can’t? You can, you just can’t do it yet.” That’s kind of our mindset now versus what it was before we had Seersha.
Barb: How would you rate her quality of life now? Do you feel like she’s on track with other kids her age?
Shayla: She does a lot of things that are where she should be (for her age). She was so far behind at the beginning of the school year but her homeschool program is great and now she’s only a little bit behind. I think that that has a lot to do with homeschooling versus being in a public school because she probably would have fallen through the cracks just with class sizes and things like that. The only things that she kind of lacks right now are social cues because everywhere she goes, she’s spoiled. Even with the nurses and the doctors, she’s a celebrity and they’re saying “Let’s give you stickers and let’s give you presents” and I’m thinking, this isn’t normal. Anytime I go somewhere she asks, “What’d you get me?” That’s not how the real world works and she does not understand “stranger danger” because everybody’s a friend. She thinks, “It’s just new people and they have to be friends,” but they are all adults.
Barb: I understand what you’re saying. Our kids grow up in a world of adults with few children around them, where most children don’t interact with that many different adults.
I know that a significant number of ADA SCID patients have dealt with developmental delays. Do you think her older siblings are responsible for some of her curiosity? Did they encourage her?
Shayla: Oh, absolutely. My oldest, Skylar, she’s like Sheldon Cooper. She is very literal about things. And so, when they play Barbies, she says, I hate playing Barbies with her. I ask her, why? She says, “Because her rules don’t make sense.” So, whenever they play Barbies, Skylar says they have to have rules and structure, “Because that’s how society is.”
And then my son is very into boy things. They play things like Fortnite together. She definitely lucks out with the fact that both of them are so much older than her. When they come home from school, there is so much for her to learn. She has so much to get from them. And even though she was isolated for so long, she wasn’t fully isolated from them. So, she still had kids, they just were her siblings.
Barb: You mentioned that she’s still homeschooled.
Shayla: Yes, she’s still in home school. We’ve talked about her going to school and I’m thinking, “But should she? That doesn’t sound like a good thing to me. I don’t think we’re ready for that,” and she’s like “I’m ready for that!”
We’ve debated back and forth over it, and especially being in California, we talked about whether she should go to school before she’s vaccinated or after she has at least started vaccinations.
The original thought was, that as soon as she comes off the sub-Q she could start going to school but I was like “Nah, I like the home school program. I don’t want her to go, especially in kindergarten, because most kindergartners aren’t as careful about washing their hands as my kid. So, if a parent sends a kid to school with a runny nose and they’re all touching and hugging… I don’t like that.” I feel like she’s home-schooled, we’re good. I never thought I would say that!
Barb: Why did you choose gene therapy over remaining on ERT or having a bone marrow transplant?
Shayla: When it was first presented to us, ironically, they (the doctors) were so excited that we already had two other children and they said that “statistically one of you four will be a good match.” We weren’t. My husband and I weren’t good half-matches and neither of my children was a match for her. So, then we were like, well, this is awkward. So, what’s next?
Barb: Are both of Seersha’s siblings full siblings?
Shayla: Yes, and we guess that they’re probably full matches to each other because they look identical.
From the very beginning, gene therapy was on the table for us because we were at UCLA and there were people on the bone marrow transplant team who had worked closely with Dr. Kohn’s research team. They felt that gene therapy was better for longevity, graft-versus-host disease, all these things. They would say, “A bone marrow transplant is a good option, but if it were my kid, I’d go with gene therapy.” And so, we were like, okay, well, we’re new to all of this, we’ll go with the gene therapy. At the time that it was presented to us, we were only going to have to wait about two years. They told us that there was already this company that was going to buy this, and then they were going to mainstream it, so we could do this in maybe two years. Meanwhile, she could stay stable on the Adagen for that time. (Adagen is an enzyme replacement therapy, ERT, that supplements the enzyme that is missing in ADA SCID patients. Adagen was later replaced by a newer form of the drug named Revcovi.)
Barb: You felt two years was acceptable?
Shayla: We said alright we can wait, we’re already here in California. Two years, that’s nothing, and then, it ended up being five and a half years.
Barb: Do you feel it was worth the wait?
Shayla: Yes, it definitely was.
Barb: You’ve learned so much these last several years, is there anything that you feel like you’ve learned that you want to share with other ADA or newly diagnosed ADA SCID families?
Shayla: Well, when all the different forms of SCID were first presented to us, we didn’t know anything, my knowledge of SCID came from my biology class, where we learned about David Vetter, and from Grey’s Anatomy, because I grew up on Grey’s Anatomy. At the time, I actually joked about that to Dr. Kohn and he told me he has an honorary Grey’s Anatomy cup because he helped write that episode. That was the extent of my knowledge of SCID. After that, I decided I was going to learn and I was going to read everything.
It turned out that ADA SCID was the only one where we had options. You had Adagen and now you have Revcovi. I think there are patients in their 30s who have been on Revcovi or Adagen for years. So, you can live a relatively normal life, if it works. That was why we felt like, okay, we can wait. Unfortunately, for Seersha, she didn’t do well on it. At about two years old, she had the most T cells she ever had. She had over 200 T cells. Then they just dropped. I think in March, before we started chemo, she only had 56 T cells. So, she never did well with it for whatever reason.
Barb: Is there anything else that you want to share?
Shayla: I don’t know how to say this without it sounding so silly, but Seersha is the most joyful child. Even though she’s sick and she’s isolated, anybody who’s ever met her can see she lights up the room. So, if we had to have a SCID baby, we’re so thankful for her life, because she’s changed ours. We view the world so differently and my kids view the world so differently than what it was before. She was supposed to be our last baby and she was our tiebreaker.
She completely changed my husband’s and my view of everything. And our children’s too. They appreciate things more now too. “Oh, you’re different.? So is my sister!” So instead of this small worldview, even though you don’t really think that you have it, your view of everything changes when you have a SCID baby. It changes you when you have a rare baby because now everything’s different. Everything you thought you knew is now out the window.
I’ve told our story to a few people and they’re like, “I don’t know how you do it” and I say, “You just do. You don’t really have a choice.” They’ll ask, “How do you do shots and infusions?” and I say, “I don’t know. You just do. I was taught it and I just make it happen. Is it terrifying? Yeah! Do I want to cry? Yeah, a lot, a whole lot!” There have been a lot of tears shed, but she doesn’t see any of that. This is her normal and she’s just so joyful about everything, EVERYTHING!
I’ve noticed that with other SCID children too, you can just see it in their pictures. All the things that they’ve done like writing stories and being their own superheroes. The world is literally out to kill them, and it means nothing to them.
You know, those little signs that you do for the first days of school. One of Seersha’s first ones for Pre-K says: Supreme Leader. We fully believe that she’s going to be a world leader. Her personality is bigger than life, honestly.
Don’t miss an issue of our Quarterly Newsletter. Sign up now.