It Can Happen Again

I always tell people that we’ve kind of adopted this saying in our family

“It’s Only Temporary”

Meet Jenna. She’s the Mom of four energetic kids and three of them have SCID.

Barb: Jenna I must say that you have quite a unique story. There are only a handful of families I’ve met who have three children with SCID. You also have one unaffected child. We’ve got quite a lot of history to cover today.

Jenna: We’ve had quite the journey here. We thought we were done after one child. But here we are with four, three of which have SCID. I just never would have imagined in my wildest dreams that all of this would happen. But here we are.

Today, as I sit here and I’m able to enjoy traveling to visit my parents and have normal mornings with kids bickering, while I’m drinking my tea, I look back and think, “Okay, we did it. We’re here and we’re just going to keep on trucking.”

Barb: That’s a great attitude! Now, introduce us to your entire family. Let’s start with your husband. How long have you been married?

Jenna: Evan is my husband; we live in North Carolina and we have been married for twelve years.

Barb: You and Evan have had four children together. Why don’t you tell me their names and ages and who was diagnosed with SCID?

Jenna: We have Deklan who is 10 and he has RAG1 SCID.

Next is Everly. She’s 6 and she is the unicorn of the family. She’s a non-carrier, non-SCID child.

Then we have Weston who is 2 and he has RAG1 SCID and Omenn syndrome.

There are many different mutations that can cause SCID. The type that all 3 of my children have is called RAG1. With RAG1, their bodies do not produce T cells or B cells, important white blood cells necessary for creating antibodies and fighting infections. Two of my kids have an additional genetic condition often seen in conjunction with RAG1 SCID, called Omenn Syndrome. Instead of causing a deficiency in T cells, it causes the opposite problem where there is an overproduction of faulty T cells that attack organs such as the skin, gut, liver, and spleen. While SCID babies can appear to be healthy at birth, Omenn Syndrome is recognizable due to the red, flaky skin, which is a result of the malfunctioning T cells.

And then lastly, we have Aubrey, who turned one on September 3rd. I can’t get used to saying one. She’s my last baby, but she also has RAG1 SCID and Omenn Syndrome.

Barb: When Deklan was born, there was no newborn screening for SCID in your state. Did you have any reason to suspect there was anything unusual going on with him?

Jenna: After he was born, they whisked him right away because he had these bumps all over him. I had never had a baby or seen a newborn. I had no idea it was unusual. Then a whole bunch of medical people came in and looked at him. They never figured out what it was. They finally said, oh, everything’s fine. But in my mind now knowing that he has SCID, I feel like it was related somehow.

He did have a couple of problems. He was jaundiced and his umbilical cord wouldn’t heal. They had to use silver nitrate on it to help it heal. Later, they told me that can be a sign of SCID, not being able to heal wounds.

He had failure-to-thrive, but plenty of moms I talked to thought it was just trouble with breastfeeding.

There were a lot of signs, but I had no idea. I can remember standing in the foyer of my townhouse, just holding my baby, thanking God that he was healthy. Then lo and behold… I had no idea the storm that was about to fall on us once he was diagnosed.

When he was about seven months old, he got an ear infection and was on antibiotics. It just didn’t get better. He started vomiting a lot! So, I took him back in and our pediatrician said, “His lungs are crackling and they’re full of fluid.” So, they sent us to the hospital to stay overnight.

The next morning, they were trying to access him (place an IV line) and it was very difficult. They had to stick him multiple times. I think the stress from that sent him into tachycardia.

They shifted us over to the Pediatric ICU (Intensive Care Unit). Evan and I were looking at him and thinking, is this really happening? They said they were going to give him boluses (large doses) of medication. If he didn’t respond, they would have to shock him. They had the pads on him while they were trying to give him the medication. We were trying to keep him calm, but he was crying. It was like an out-of-body experience with all that happening.

Thankfully, they were able to stabilize his heart which had been beating at 280 beats per minute. We stayed in the PICU, but he eventually had to be intubated (he had a breathing tube placed so he could be put on a ventilator). They still were not sure exactly what was causing the pneumonia or what was going on. He just wasn’t getting better. His body was working so hard. He needed a rest. That is why he was put on a ventilator.

Eventually, they said he might need ECMO (a heart/lung bypass machine) because his heart was not doing great. They still weren’t sure what was going on. They transferred us to The University of North Carolina (UNC). There was an immunologist there who had trained at Duke. She said we’re going to do a viral panel to see what we can find, and they found he had H1N1 and rhinovirus. He also had enterovirus, I think from the ventilator, but he also had some kind of bacterial infection. The immunologist said that is not normal and we’re going to look at his immune system. That is when they finally found SCID.

By that point, he was eight and a half months old. When they told us about SCID, I remember sitting in a little tiny room with a box of tissues and they told us, “Your son has Severe Combined Immune Deficiency.” They just kept saying, “Bubble Boy Disease.” And I’m thinking, bubble boy? like the movie where he had to live in a bubble?  I didn’t even know that was a real thing. I thought that was made up for Hollywood.

And then of course I looked it up on Google. That was not the best thing because that really freaks you out. They had a new transplant program at UNC, and they said, you can stay here, or go to Duke. At that time, obviously, Duke was the gold standard. They had Dr. Buckley (who was world-renowned for the treatment of SCID babies).

So, we opted to transfer over to Duke. Deklan received a half-matched transplant with me as his donor. We waited about nine months (after the transplant), but nothing worked. So, we moved forward with finding a donor on the (national) registry. After about 3 months they found one and he received chemo prior to the second transplant.

It took about a year before we saw anything (any indication that the transplant was successful). We had reached back out to the donor to try to do a booster, but she was pregnant, so she couldn’t donate again. Right after that, his levels came up a little bit.

Today, his levels are low/normal, but he’s able to clear most of the sicknesses that he gets. He gets sick every fall, and every winter, but I feel like kids with normal healthy immune systems do too.

So that was the beginning of our journey.

Barb: Is he still on immunoglobulin replacement therapy (IgG) today?

Jenna: He is. He gets Sub-Q (a way to give immunoglobulin under the skin) at home weekly, which he does not like. Every week I have to explain, “This is just what we have to do. If you didn’t do this, you could get sick a lot more often.” and he says, “Well, how long will I have to do this?”  I hate when I tell him, “Probably forever, I don’t know.”

I won’t be surprised if down the road he needs a booster or another transplant, just because I think his body still had H1N1 when they did the transplant. I don’t know if that interfered, but his body had been through a lot, and he was older too. He was almost two when he got his second transplant. They always say if you are transplanted in the first three months of life that gives you the best opportunity.

About three months after transplant he finally cleared H1N1. He had H1N1 for a year and he was on Tamiflu for another whole year. Something must have been working because he was able to finally get rid of it. It was a very exciting milestone when they told me that he was negative.

That was 2015, the year when H1N1 was really bad. It was taking down adults. We had news stations reaching out to us. They were shocked that a baby with SCID was able to survive it. The fact that they were able to stabilize him with Tamiflu and get him to the point where he could even get the transplant was good. The half-match transplant took a lot of time, and it really didn’t work but I don’t know if he would have been able to handle chemo in the beginning.

Barb: So Everly was next. How did you prepare for the possibility she might have SCID?

Jenna: We knew there was a chance (because this type of SCID affects both males and females) but you look at the odds, 75% chance of not having SCID. I was worried about it. When I packed her hospital bag, everything was clean. I sterilized as much as I could, and I put things in baggies, and I tried to be careful. But I just never thought she would have it. I didn’t really prepare myself (emotionally) for the fact that she could. She had jaundice and had to be under the lights. They took her cord blood to test it. That was when newborn screening was in the pilot phase in North Carolina, but Dr. Buckley wanted to test her cord blood. It was sent to Duke and evaluated.

A couple of weeks later I reached out to Dr. Buckley. “So, does she have it? Are we okay?” In true Dr. Buckley fashion, she wrote me right back. “Everything looks good. We might want to have her checked again later, but everything looks good.” I was expecting this big “She’s safe. Yay!” But it was just kind of anticlimactic. I was thrilled, but I was expecting more fanfare… a party! However, I think I would’ve felt like I was hit with a ton of bricks if she’d had it.

The same thing happened though when we had Weston. I went into it thinking, “Everly was healthy. There’s a 75% chance of him being fine.” So, that was shocking. I never really thought it could happen again. But apparently it can happen again and again and again.

Barb: So, did you do anything differently for your pregnancy with Weston?

Jenna: We didn’t. We had the option to do testing in utero to see if he had it, but we decided not to. It wouldn’t have changed anything and it’s a risk to the baby. I had a miscarriage at nine weeks before I got pregnant with Weston. I didn’t want to risk another miscarriage because of the test.

At that point, it was 2020 and Deklan was in virtual school. We didn’t have a plan for who would take over virtual school and who would handle Weston’s treatment (if he had SCID) or who would still work so we could all have insurance. We didn’t really have as good of a plan as we should have. I think that’s also why it was shocking.

But when he was born, his skin looked very different from Deklan’s. He was very red and very flaky. We had never experienced Omenn Syndrome. I’d heard people mention it in the SCID group, but I didn’t know what it was or what the implications were. The doctors came in and said, it could just be normal baby stuff, but it could also be Omenn Syndrome. (The doctors were waiting on the results from testing his lymphocytes. They didn’t wait for the newborn screening test to come back before looking at his lymphocytes more closely.) We still thought, “Oh, I’m sure he’s okay.”

He was so perfect, so beautiful. So, when they came in and told us he had SCID and Omenn Syndrome, it just destroyed us. I’ve only seen my husband cry a handful of times and that was one of them. Just the realization that we’d have to figure out how to handle home and do all that all over again plus this extra complication of Omenn Syndrome, with which we had no familiarity. We had no idea what to expect.

Our immunologist was just very honest and straightforward. He said, “It can be very dangerous. We’re going to be closely following him and we’re going to start on steroids. We may need to go to immune suppressants.” I didn’t understand why they would have to suppress his immune system. But then I finally learned.

Barb: How did you juggle home and hospital? You had Everly and Deklan at home, with Deklan still requiring infusions, and now you would have Weston going in for treatment.

Jenna: We were living with my in-laws at that time and that kind of worked in our favor. We never could have survived it without my mother-in-law. She really stepped up. She took over things at home so that my husband was still able to work. She managed Deklan’s school and took care of Everly. Then Evan and I switched out one or two nights a week. She was managing all the things I would normally handle. If she hadn’t, Evan wouldn’t have been able to work. I don’t know what we would have done. Evan had steady insurance and because she was able to help, we were able to keep things going.

I was running solo at the hospital, which was a different level of difficulty. Thankfully, Weston was only in the hospital for about six weeks.

Barb: But when you had three at home, two of which had SCID and then you had Aubrey, who was also diagnosed with RAG1 SCID and Omenn Syndrome, did it become routine to do it all again?

Jenna: It was harder.  I knew the second I saw her, literally the second I saw the top of her head, I knew. It was a really tough moment because I was so happy, but I didn’t get to be happy, because I knew. They handed me my new baby and I was hoping to be happy, but I just couldn’t be. I looked at her and just started balling and I hate that. That was our moment.

At that point, Weston was just shy of two, so he was at a good place with his transplant. He was still taking medication and I was the one who was used to doing refills and managing that so I figured out I could do delivery for his medications. Evan would tell me when they were low, and I would coordinate getting the medication delivered to him at home. I would make sure they had everything delivered. Evan really didn’t have to do much in the way of managing Weston, but he did have to take over Deklan’s Infusions again.

Of course, we talked to my mother-in-law and said, “We need you again.”

At first, she said “No, I don’t want to do that. You have three kids at home now and Weston is a lot.”

He’s very energetic and a furious climber. He’s a typical boy. I didn’t experience that with Deklan. I could have a pile of toys in the corner and Deklan would just never go near them or touch them. Weston, however, would climb them or rip open the boxes.

I know it was very stressful for my mother-in-law and Evan. He would ask, “Can we hurry up and get you home?” But again, we were only able to make it through because of her, and Evan was able to keep working throughout the process.

I didn’t go home at all throughout Aubrey’s whole process. I was at the hospital for the whole six or seven weeks. The big kids would occasionally come in the car with Evan to drop off food and I would come to say “Hi” and give them a hug or high-5 out in front of the hospital, but that was the extent of it. Deklan and Everly were both in school when Aubrey was going through treatment. So, I was nervous about them bringing germs. It was winter and I didn’t want any flu or colds. So, I stayed and managed everything from the hospital.

I was able to come home with Aubrey on day 22 after the transplant. We were very vocal with the team to get this done quickly. I know there are protocols, but they knew me. They knew I could care for the (IV) line. I could manage all the medications. I would show up at all appointments and contact them if there was a fever.

Barb: When you went home, How did you protect Aubrey from her siblings who might bring something contagious into the house?

Jenna: It was hard. When Weston came home, we tried to do masks and hand sanitizer and we kept him in a separate room. We were going to try and do that again (with Aubrey). She slept in a separate room and bathed in a separate room. But there were so many kids. It was just not possible to keep her completely isolated. So, we just did our best. The older kids had gone through it with Weston. They knew they needed to be careful. They knew they needed to clean their hands. There wasn’t much nagging because they were kind of used to that. They would say: “I want to play with Aubrey. I’m going to go use hand sanitizer.”

There were a couple of times when someone was sick. Right before I came home Deklan had influenza. I was worried that we wouldn’t be able to come home. It was kind of scary.

When we did come home, the doctors said the timeline was safe. But I was worried there could be some lingering flu. I was looking around my house thinking oh no, I don’t want to touch anything. What if there’s flu? I wiped everything down constantly, hand sanitized constantly, and washed my hands. We just did our best. thankfully, so far, Aubrey hasn’t gotten sick.

Barb: So, Aubrey really hasn’t ever been sick, has she?

Jenna: No, she’s had a runny nose at one point. But I think that was right when her first two teeth were coming in. I still think that that was more related to teething than anything else. She hasn’t had any real sicknesses.

Now, we’re coming up on another school year, which will make me nervous, but I wipe all the kids’ book bags and lunch boxes and disinfect as much as I can. So hopefully nothing bad will happen. At this point, she’s almost 9 months post-transplant and her levels are pretty good.

Since she had a matched sibling transplant from Everly, they say that that gives her the best chances for getting full cell reconstitution including B cells. We obviously don’t know, but so far, her levels are really strong and rising just like they should. (When you have a matched sibling, most doctors prefer to use the sibling as the donor rather than look to the national registry as this typically results in the best chance for full engraftment of the bone marrow.)

Weston hasn’t been sick either. We haven’t been as careful with him because I was mainly focused on protecting Aubrey. But we try to be careful with Weston, too. I think that speaks volumes to his immune system and his levels are way higher than Deklan’s.

We have our own little SCID support system in our family. I feel like when they get older, they’re going be like, oh, what’s your T cell number? Deklan’s levels are just lower than the other two. I like to call Deklan’s immune system his special forces because what he does have functions very well. He just doesn’t have a lot of it. I’m not sure what will happen, but it is good that they have each other as a built-in, SCID support system.

It’s weird that Everly is the unusual one in our family because she doesn’t have SCID. Sometimes she’ll say, “I wish I had SCID.” I tell her “No, you don’t. I know the others get more attention because they’re medically complex, but, no!”

Barb: Do you celebrate transplant anniversaries or Life Days?

Jenna: We try to celebrate the life days.  We don’t go all out or do anything too crazy because we just have so many of them with life days and birthdays and Everly doesn’t have a life day, so she gets left out again. But she will get a day of celebration as well because she was the donor for her sister. Aubrey’s Life Day is coming up in November and we’ll definitely celebrate Everly too. She played a big part. She was only five years old and for her to do that was pretty amazing. Everly wasn’t a match for Weston, but when they told us she was a match for Aubrey I felt like all the stars aligned. It was our full-circle moment. Aubrey was meant to be here and be Everly’s sister.

Barb: Do you feel like you’re a different type of mom than you would have been if your children didn’t have SCID?

Jenna: Well, of course, there’s a touch of germaphobia, that comes with being a SCID mom. But I think I’ve gained a lot of strength personally. I remember how I was when Deklan was so sick. I was just very soft-spoken. I didn’t speak up for him. I was afraid of confrontation. I’m not that way anymore. I think in a lot of ways it’s been good for me, and I think I’m a better mom because of it.

Barb: Do you have any lessons that you’ve learned that you’d like to share with other SCID families just starting down this road?

Jenna: I’ve posted so much on social media that I’ve had a lot of families reach out to me. They find our posts and I always tell people that we’ve kind of adopted this saying in our family, “It’s Only Temporary.”

There was a time when Deklan got sick and he got stressed and I told him, “Deklan, you’re not going to be like this forever. I know it’s not fun. It’s only temporary and we’re going to get through it.” After that, I just started saying it a lot.

This mindset has really helped me get through tough times. In 2020, we would pass a park in our neighborhood, and it had a padlock on it because of the coronavirus pandemic. My kids would be so sad. I was telling them, “It’s only temporary. It will be open again. We will have happiness and joy again.”

By the time Weston was born and we had to be separated, I would say “It’s only…” and then they would both say it together, “TEMPORARY!”

It helped give them hope and helped them hold on through the tough times because happiness can be right around the corner.  It reminded them that this isn’t my normal forever. This is just my normal for right now.

Barb: What have you been the most grateful for during this journey?

Jenna: There’s been a lot. Obviously, I’m thankful for continuing advancements in the field. Had this happened 15 or 20 years ago, I don’t know if any of my kids would have made it.

I’m grateful for all the people and families who went through this before us and helped fine-tune it. I’m grateful for their sacrifices. And I’m grateful for the perspective that’s given to me.

There are so many moments that I’m grateful for which I don’t think I would have paid attention to had our journey been different. I will never forget the first butterfly Deklan ever saw. He was about a year and a half old, and we went to Duke Gardens. I will never forget the sparkle in his eye when he saw that butterfly. Would I have remembered that if we’d just had a “normal” childhood with him? Maybe, maybe not, but I feel it has really helped me appreciate things that I don’t think I would have noticed otherwise. It’s taught me to look for the positive. When I would write my posts for Deklan’s Facebook page, I would always put a positive spin on it and yes, I struggled, but I would always try and adjust my mind to thinking positively because no matter what I was going through, there was always somebody going through something worse. I tried not to complain, and I tried to remind myself that we were still going, we were still here, and we were just going to keep going.

Barb: That is such a great attitude. I really appreciate you sharing all of this with us. It’s inspiring to know that you’ve had four children, three of whom have SCID, and hear that you’ve been able to come through it all with such a positive attitude. I think your story will help others to see that they can get through the tough days too.

Jenna: It’s taken me a long, long time to get here and I’m not going to say I always felt this way. There were many times I struggled. Our family, our marriage, has struggled but we made it through. And I try and remind myself, “Here we are and we’re stronger because of it.” I don’t think that things would be this way without the struggles we went through.

It is easy to say, “Oh, I wish we could do normal things. I wish we didn’t have to always worry about their levels. Are they okay?” But I think parents worry no matter what. We just worry about different things than other families. It’s all relative, and yes, it’s only temporary.

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