A Legacy of SCID

This month I spoke to a family with a legacy of Severe Combined Immune Deficiency or SCID. Multi-generational instances of SCID most commonly occur in families with X-linked SCID (XSCID). Because of the genetics specific to XSCID, girls in the family might inherit the defective X-chromosome and be carriers, which consequently leads to the chance for following generations to produce affected males. This is what we call a legacy of SCID. When an XSCID patient has a child, a son will be unaffected, but his daughters will all become carriers. Scott’s generation of XSCID survivors is the first to go on to have children.

In Scott’s extended family there have been 3 XSCID patients with 3 different methods of treatment. One had a sibling donor (Scott), one had a maternal donor (Scott’s great nephew Connor), and one received gene therapy (Scott’s great nephew Gannon).

Scott and his family live in Missouri. During the interview I spoke with Scott, his mother Marilyn, his sister Kim (also his donor), his wife Lynn, and their three daughters. 

Before the availability of newborn screening, typically the only reason a SCID patient received an early diagnosis was because an older sibling or an uncle had previously passed away from SCID. Only a handful of patients with no previous family history of SCID were diagnosed early enough to survive. Scott was the first male in his family to be diagnosed with SCID. Scott was born in 1976, only 5 years after David Vetter (The Bubble Boy) was born and placed into his bubble. Even though the first successful matched sibling donor bone marrow transplant for SCID occurred in 1968 under the auspices of Dr. Robert A. Good, SCID was still relatively unknown by the medical profession. Scott’s family was determined to find a diagnosis for their son.

Barb: Scott, good evening. I’d like to start by asking how old you are and what is your SCID diagnosis?

Scott: I’m 46 years old and I was diagnosed with (X-linked) SCID at the age of six months. Children’s Mercy had a hard time figuring it out.

Barb: Is that where you were treated? Children’s Mercy?

Scott: No, where I was diagnosed. We went to several local family doctors throughout the first six months of my life. I don’t remember it, but I was pretty sickly from all the stories that I’ve heard. We finally had one doctor that referred us to Children’s Mercy.

Barb: Marilyn you’re Scott’s mom, how hard was it to find a doctor who could diagnose Scott?

Marilyn: Scott was a happy baby. He didn’t run a fever but fluid just ran right through him. We went to so many doctors and they just said, I think he has a bad allergy. The worst one was a pediatrician who told me “You’re not keeping him clean. He’s got thrush in his mouth.” I was ready to knock him across the room because we were. His nose just kept crusting over and his eyes kept crusting over and he kept getting crust in his ears. It was so hard to see him so sick and then the doctors would have to hold him down to scrape out his ears. It was a terrible thing. It was an experience that I wish no one had to go through.

This was hard on Kim and Kam (Scott’s sisters) also. I had to give all my attention to Scott. I wouldn’t have had it any other way, but it was hard. But I’m thankful to my husband because I was ready to give up, and Scott’s dad wasn’t. It was so mind boggling because no one knew what was wrong.

Finally, I took him to another doctor in Richmond and I took a whole shoebox full of prescriptions and formulas that other doctors had given us. He just looked at me and said, “What is this”? I said, “If you don’t want to listen to what I have to say about this child, I’m wasting your time and mine”. He said, “Sit down and I’ll check him out”. I told him that most of the doctors had said that he had allergies. He said it looked like that to him too, but then he went out of the room and when he came back, he asked, “Can you be at Children’s Mercy by six o’clock in the morning?” I said yes, but in the middle of that night Scott started running a fever. I called that doctor and he said, “You get in the car and head right up to Children’s Mercy. They will have a doctor waiting for you.”

Scott: And how long were we there? Two weeks?

Marilyn: Seven weeks. We were there for what felt like so long. My girls were home, and I was having a really hard time not being with them. They did so many tests on Scott and I called my husband and I said, you know, he’s just getting sicker and sicker. Let’s just take him home and let nature take its course.

Then that very same day, I called him back and told him that a whole world of doctors from Children’s Mercy came in to look at him. I thought, “What in the world is going on”? They said, “We think we know what it is! but we can’t do anything about it. However, we talked to this doctor from Wisconsin and he’s the one you need to call”. And so, they dismissed us.

Then, we called Dr. Richard Hong at The University of Wisconsin, and he said, “We are doing experimental work with this and we think we’ve had some success with it, but I won’t go by your blood test. I would want to do my own blood tests, and I need to do it on the whole family.”

Barb: Did they send you to Wisconsin then?

Marilyn: It was up to us what we did. So, I said, “Okay we’ll jump in the car, and we’ll head up there”. Which we did. And we just loved him. He was so nice. Of course, after they took blood for tests, there was another waiting period.

Meanwhile, Scott was just getting sicker and sicker and sicker.

Kim: They told us we could not fly up there, that we should go up in a vehicle of our own and not to use any type of public transportation.

Barb: Marilyn, what can you tell us about that time?

Marilyn: After maybe 10 days were up, Dr. Hong, I can still see him putting his head in the room like that, he said, “Which one of you is Kim”? Then he said, “We think Kim’s a donor and we feel confident that with this procedure we can help Scott”. Our other daughter was just broken hearted that she couldn’t be the donor.

Kim: I do remember the day that they said I matched because I was down in the waiting room. We were watching TV and you could hear my mom screaming all the way down the hall “You match, You match, You match, You match.

Barb: So, Kim, how old were you then?

Kim:  I was in eighth grade so what is that? 13 or 14?

Marilyn: By now the girls were missing school. Kim was to start high school. She started late. They had to talk to her because they wanted to make sure she understood that it wouldn’t be her fault if something happened to Scott.

Kim: I remember Mom and Dad saying he may not make it. It bothers me today to hear that, but at the time I never thought that would happen.

Marilyn: They told us there would be a waiting period, but somewhere between 7 and 21 days he could have a graph or post reaction which could cause his liver to overwork. Of course, that was Greek to me. I didn’t really understand everything that was going on and how it all worked, but they did it right away. Then we waited and it took effect on the 19th day. I could just see his body getting better almost every day. His skin had been broken out around his eyes and practically everywhere from his waist down to his knees, was just bright red. Then every day he just looked better and better. It was a long way through those months, but then he just did so well.

Of course, once we were home, we couldn’t go anywhere. We were isolated at home, and we’d go back there, at first every week, and then every two weeks. We had to take him up there all the time. That was a challenge for us. I just began to think it was going to always be like that.

I’ll skip forward to when he went to (public) school, they really were not set up for having a child with a problem like this and they had a home teacher finally come out two hours, twice a week. He’d try to go to school, and sickness would come along.

Scott: There wasn’t a chickenpox vaccine back then. From Kindergarten through Second Grade, they didn’t let me go anytime within two weeks of anyone in the entire school being diagnosed with chickenpox. So, from Kindergarten through Second Grade, I went to school for about 2 weeks total. In Third Grade I went to a Lutheran school, which had less than 100 people total.

Marilyn: Then, in Fourth Grade, he came home with chicken pox, because one child went to school with it. And my husband had to rush him up to the doctors because they wanted to give him a special immunoglobulin and there was only one place in the United States they could get it.

Scott: I’m glad you had my mom on here. I can’t tell you about all the things that she can. My niece, Katlyn (mom to Connor and Gannon), and I have had many conversations about it. I’ve told Katlyn this before, that it’s harder on the parents than it is on the child. The child is extremely young when this happens so it’s much harder on the parents. Everyone is always second guessing what is the right thing to do. Parents should do their homework and figure out what’s best for them for sure. But just remember that whatever you do, you are trying to do the right thing. And I think that’s something that many parents really struggle with. I’ve met lots of parents that have been through this over my years who are dealing with the question “Are we doing the right thing for our kid?”

Barb: Scott what is your first memory of anything medical?

Scott:  I’ll tell you something strange that I’m pretty sure stems from all this, I love the smell of rubbing alcohol. It sounds really weird, but when you think about it, some of those things are formed when you’re that age. I spent so much time in the hospital and that’s what they used to clean with. So, I love that smell. It’s fantastic.

I don’t have any memory of the first go around. I had a booster when I was three or four.

Marilyn: You were four. Kim was at the beginning of freshman year in college. We had to get Kim and go up there. They said his numbers were falling and falling.

Scott: Afterwards they injected the marrow into my pelvis and I couldn’t walk.

Barb: So, they didn’t infuse it into your blood stream? They actually injected the marrow into your bone?

Scott: That’s what I understand.

Kim: They didn’t know at that time how to give it to him. During the first transplant they tried to give it sub-q (subcutaneous) in his abdomen, and I remember them trying different places. They said, they were not really sure how much to give him or how to give it to him. They were still trying to figure that out at that point.

Marilyn: They gave him 10 times what they thought he needed the second time.

Barb:  Did you have any bad reaction, any type of graft vs. host reaction from such a large infusion of cells?

Marilyn:  No, not from the dose.

Scott: The other memories I have are of Dr. Hong. I remember his voice and his demeanor and his face. Dr. Hong had this real softness about him so that he could talk to anybody. I heard that Dr. Hong passed recently, and I can still remember what his voice sounded like.

We hardly had any support back then. The groups like you guys (SCID Angels For Life Foundation) are fantastic. That was non-existent at that time.

And as a matter of fact, I went through NIH (National Institute of Health) with Joie Davis, and she was fantastic when we were there. We traveled several times for a few different things. I try to still keep in touch, probably not as good as I should.

I’ve told doctors this in the past, that by about the age of 20, everything (follow up care to his transplant) just kind of shut off. I didn’t go back for checkups anymore. There wasn’t any place to go. They only took kids up to a certain age. That was one of the things I said in that survey, the pediatric care was fantastic, but that shuts off about that age. Then what do you do after that? There wasn’t an immunologist at every hospital.

I was very healthy. I played football and wrestled and did whatever. I worked outside. I’ve pretty much done whatever I wanted to do. And I haven’t had a whole lot of issues besides a tremendous amount of warts when I was younger, which has kind of subsided. I still get warts but not near as bad, like one or two. But from 20 years old until, well I’m 46 now, I haven’t seen an immunologist in 26 years.

(SCID Angels encourages all SCID patients to maintain long term follow up with an immunologist.)

Barb: It also means that the immunologists have lost that data too. They need to know that your transplant worked even though it was an experimental process. There’s no record that you’re this healthy today.

Scott: Right and I’ve read about a few cases where the graph has gone away later, especially later in life. That’s always a concern for me. I’ve tried to start doing blood work in the last few years to check CD4 counts and things of that nature. Obviously, I have a little bit of a stake in the data. It’s my life. I’m trying to work on those things myself, personally.

I think my sister and my mom would both tell you that the key to it all is to learn to be your own best advocate.

Marilyn: In 1997 Joie Davis called and said, “We want to invite your entire family to come up to the National Institute of Health. We’d like Scott to speak before the other parents, to give them hope for their children.

Barb: Yes, that was the original XSCID Conference in April 1997. Many of us were there as well including Heather and myself. We were those parents who wanted to hear from you.

Marilyn: I hope he was another good influence for all of them.

Barb: He was an inspiration. We all had babies and toddlers at that time. We were in awe to see a SCID kid who was twenty years old.

Scott: I didn’t realize at the time, but the conference was difficult for me to go through. Seeing the parents of children who weren’t as lucky as me was very rough. They all asked the same question, and a 20-year-old me didn’t have an answer. I would try to be as supportive as I could be in this thing. I do what I can do, but I did not know how to handle it.

(I spoke more with Scott later to better understand what parents wanted from him that made him uncomfortable. He explained that they didn’t actually ask him a question, but he said their faces did. He felt that they wanted to know why he was healthy and why their child was not, or why he survived when their child did not. Scott talks more later regarding the need for better emotional support for patients and their families.)

Barb: Kim, would you like to tell us your perspective as Scott’s donor?

Kim: I didn’t feel like it was as hard on me as my mom probably felt like it was. I know she wasn’t here, but we knew why she wasn’t here. We lived in a small town. We had my grandparents, and we also had my dad who came back with us. We also spent a lot of time there in Wisconsin. I spent more time there than Kam did just because they were asking different questions and doing different tests on me. To me, it was all very fascinating. That’s what led me into the medical profession.

I don’t think that the extreme nature of the disease hit me until I was probably in nursing school. But it made an impression. The whole healthcare system made an impression on me.

Barb: It seems to have had an impact on your life. It opened the door to the medical world for you and led you to your career in nursing.

Kim:  It did, it did. I was just saying that to Scott today, that’s what got me into nursing. I do remember them being very impressed (with how perfect a match I was to Scott) and they said we matched like identical twins to the point that Scott developed B-cells

Barb: Scott did you receive chemotherapy?

Scott: No, I was too sick. They couldn’t give it to me.

Barb: What about for the 2nd transplant?

Marilyn: He didn’t have to have anything. No chemotherapy whatsoever.

Scott: I don’t understand why they didn’t for the second transplant, but I understand that for the first one. I asked the doctors at one point “Why?” And they said, “It would’ve probably killed you. You were on the verge of death”.

One thing I’ll add to all this that we’ve discussed is that a lot of good came out of it. I mean it was a horrible thing to go through, but I think a lot of good came out of it for the medical community, in general, and the SCID community, specifically. And it made us a very tight knit family. My mom and dad have been extremely close to me all my life, but Kam was my second mom. Mom and Dad were working, trying to pay all the medical bills. Kam was my babysitter when Kim was in college so we hung out at a time when I couldn’t hang out with anyone. We were very close. Being my donor and losing Dad and Kam (early in life) has made Kim and I extremely close as well.

Marilyn:  Later, we got a call from a reporter who told us that now they could check newborn babies to see whether they had this or not. My husband and I went to the legislature in Kansas to tell our story. After that, Kansas started screening babies for SCID. So, I feel like Scott has been a part of helping to save a lot of children’s lives and they don’t have to go through what we went through.

Barb: Were you ever on immunoglobulin (IgG) replacement therapy?

Scott: No

Barb: Wow, so you got B-cells very quickly.

Scott: I don’t remember ever being on it (IgG). I never had a regimen like my great nephew. He is on a regimen for IgG. Both of them (my great nephews) are, but I never had the regimen.

Barb: Scott once you were able to attend school, from Third Grade on, were you able to have a normal school experience?

Scott: Normal is a great word! I think I spent too much of my life trying to be normal and finally figured out that nobody’s really normal. We’ve had these conversations with different people and I’m not going to say that I’m an expert in any of this. But in having the issues that I had, and (the age at which) I didn’t go to school, from kindergarten through second grade, that is when you develop a lot of social skills. That’s probably one of the main things you learn during that time frame. If you take that away and you inject a kid into third grade, it’s a whole different ball game. It was a learning experience.

To be honest with you, I struggled with it for years. I finally figured out that it just doesn’t matter. I don’t care what people think of me. I just try to be the best person I can be and go work hard and do the right things and learn something every now and then. And, you know, go on down the road, be good at your training and just be good to other people and see what happens. If people accept you, that’s fine. If they don’t, you know, that’s their fault, and that’s their loss.

So, I can say that I think I am fairly socially acceptable. I don’t know. I guess that’s the best way to put it. I’m on the school board in the little town I’m in. I deal with people all the time, so I don’t know. I guess I’m normal.

Barb: So, you grew up in a small town. Tell me what happened after high school, when you started your job, how you met your wife.

Scott: Oh wow, so I live in rural America, in a town with a population of less than 5,000. I played sports. Baseball was a big thing early on, and then basketball. In high school I switched from basketball to wrestling, which was probably one of the best things I ever did in my life. I’m a wrestling fan, and it led to me meeting my wife. It was my first year out of high school at a wrestling tournament, believe it or not, because I had wrestled her brother in high school. Somehow (during that tournament) I got her (Lynn’s) phone number. I don’t know how that happened. It just all worked out.

I did not finish my degree in engineering, but it led me to the path I took for a career which was as a construction staking based surveyor. Today actually was my first day of a new job. I’m selling Machine Control equipment and the software that goes along with it.

Barb: Scott, do you feel like you have any long-term health issues related to your transplant or SCID or from being sick as a baby? Is there anything residual long term that you think is a result of that?

Scott: I mean, there’s obvious ones like the warts thing with the low NK-Numbers. That’s pretty common and explainable. I honestly think the biggest one is the mental (emotional) issues. There’s better support now, but back then you had to figure it out yourself and just deal with it. Now, granted, I had a great support system. My parents and sisters were fantastic to me. But it’s not something that a five-year-old’s going to sit there and talk about without some prompting. For me it was just weird. Like you’d hear, “That’s a bubble kid” or whatever. I could care less at the time. I was just oblivious and that’s the way you are when you’re a kid. But you should talk about those things as you develop because later on in life, you’re going to realize it and it does affect you.

Nowadays my nephews go through the phases of being protected (in isolation), but they can still get out and do more things than I could when I was that age. So, it probably affected me differently than others.

Kim: I mean luckily Scott’s pretty open. He doesn’t know a stranger. For the most part, he can talk to older people because he hung around with them a lot when he was little. He also has the gift of relating to younger people. So, I think for him that worked out well. I’m not sure everybody would have that same disposition, that I think he does.

Barb: Scott, What would you say were the most important moments in your life to date?

Scott: I mean, meeting my wife is way up there, you know? I’ve worked as a bridge builder. It’s what I did for a living. I did bridge layout. I work in an industry where you actually see something get built and you can take a lot of pride in that. I know I like that.

You know, there are several things that are up there that probably everybody would say, but nothing beats the birth of your children or watching them grow up. I’m getting ready to watch her (Sarah) graduate high school in six days. That’s pretty awesome!

I’m going to tell you that I feel extremely lucky. My story is a lucky story, right? I was extremely fortunate. I had great doctors, I had tremendous support. My sister and I matching is obviously one of the key components of this or we wouldn’t be speaking. My parents were unbelievable to me. They went through heartache that they shouldn’t have gone through. I’m a lucky guy for all of those things.

Barb: I think parents will appreciate learning about your family. You’re in your 40’s and you have children and a wife and a job. Those are huge milestones in life. I think it’s good for some of the younger parents, whose children were diagnosed through newborn screening, to hear what went on before we had that. It gives them a chance to learn how hard this was before newborn screening and what it took to get a child diagnosed. I hope parents and patients will gain some appreciation for the medical advances that have been made over just a few years as well. I also think this interview will help parents to see how much potential there is in the future for their children.

Lynn: We live pretty normally, I guess you call it normal. I mean, we have full-time jobs and we have three kids that keep us active when we are not at our full-time jobs. So, I would say we’re pretty American dreamish.

Scott: At some point in time, I realized that I’m thankful that I’m not “normal”. That probably sounds really weird but somewhere I hope someone sees this and goes through experiences in life and then gets to a point where they say “I don’t want to be normal. I want to be me and do the things I want to do”.

Please visit the 2nd part of this interview where I speak with Scott’s daughters regarding their thoughts on being part of this legacy and learn more about his family’s inheritance of XSCID across 4 generations.

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