Marcia and Ryan always wanted a big family and they weren’t going to let SCID stop them. They had 4 children together and then adopted 2 girls from China. Add 2 daughters-in-law, a son-in-law, and 5 grandchildren and Marcia got the big family she always wanted.
Left to right: Braden – son ZAP70 SCID, Easton – grandson, Becky – Braden’s wife, Ellie – daughter adopted at 11 months old, Josie- granddaughter, Ryan and Marcia, Kinsey – daughter adopted at 9 months old, Eric – son unaffected, Knox – grandson, Kaili – Eric’s wife, Cooper – grandson, Haylie – daughter ZAP70 SCID, Zac – Haylie’s husband holding Jax – grandson.
Not pictured: Alex – son ZAP70 passed away at 2 years old.
Photo courtesy of Jessie Ann Photography
The SCID family showcased this month has an ultra-rare form of SCID called ZAP70. Marcia and Ryan always wanted a big family and today they have one. They weren’t going to let SCID stop them from having the family they dreamed of. Together they had 4 children and then adopted 2 girls from China. Add 2 daughters-in-law, a son-in-law, and 5 grandchildren and they’ve got the big family they always wanted.
The name ZAP70 is derived due to a deficiency of the ZAP70 protein. Dr. Jennifer Puck, a member of the SCID Angels Scientific Advisory Board, gave me a quick rundown on the characteristics and variability of ZAP70 deficiency.
“A deficiency in this protein results in defective CD4+ T cells and few if any CD8+ T cells. Because the defect affects the cells after the development of TRECs, which are used to screen newborns for SCID, these babies can have normal TRECs, and therefore newborn screening has picked up some, but not most cases of ZAP70 deficiency.”
“ZAP70 can present with variable degrees of immune deficiency. The most severe cases meet all the criteria for SCID. More often the immune deficiency is not severe enough to be considered SCID and falls into the CID, combined immune deficiency, category. Some affected children are not diagnosed for years and there are even some adults who manage to get along without treatment, although they typically have a history of infections.”
Barb: Marcia, can you introduce us to your family and tell us who has SCID?
Marcia: My first son, Eric, was born in January of 1987 and is 36, almost 37. He was perfectly healthy and does not have SCID. Alex was born in August 1988. He was born with ZAP70 SCID, but we didn’t know that at the time. He is forever 2 years old. Braden, born in 1990 is 33. He has ZAP70 SCID. Haylie, born in 1993 is 30 and also has ZAP70 SCID. After she was born, we decided we still wanted more children. We adopted Kinsey from China when she was 9 months old. She is now 25. We adopted Ellie from China when she was 11 months old, and she is now 23. I have 4 grandchildren from my son Eric.
As far as we know, my daughter Haylie is the first Zap70 girl in the US and Canada to go on and have a child. She recently gave birth to my 5th grandson, Jackson (Jax).
Barb: Can you share with us your family’s story and history with SCID?
Marcia: Ryan (my husband) was in college, and we were just kids, only 22 or 23 when Eric was born. Then when he was about 9 months old, I was so excited to find out I was pregnant again. We both wanted a big family and having 2 little boys so close together was just my dream. Ryan graduated and we moved up to Kansas City in January of ’88. Alex was born in August of 1988 and he seemed fine to me. The only issue I had with him was his umbilical cord would not come off. I took him to the doctor over and over thinking I was a terrible mama; I wasn’t taking care of it properly. But the doctor said, “It looks fine. There’s no infection”. It eventually came off, after a couple of months.
I was breastfeeding him, and he seemed healthy until around Christmas time he got a cold. I remember that being the time he went on antibiotics, but after 10 days that antibiotic didn’t work and he remained unwell. Looking back, he never did recover from that cold, but the doctor kept saying that spring would come, and he would be fine.
So, when spring came, we’d take him outside hoping the fresh air would do him good, but he always sounded congested like he had a cold, and people would comment on it to me. I became defensive, I’d say, “I’ve taken him to the doctor and there’s nothing wrong with him.” By June, when he was 10 months old they finally decided to send us to Children’s Mercy to be tested for Cystic Fibrosis. I was young and naïve, and I just wanted a diagnosis. Of course, the test for CF came back negative and that’s when our pediatrician said, “I think he probably has a little bit of asthma.” He put him on breathing treatments 4 times a day. After about a month of breathing treatments, my husband and I both knew it wasn’t working.
Meanwhile, that July I found out I was pregnant again. So here I am pregnant for the 3rd time and we still don’t know what’s going on with Alex. I start to think, “Oh my goodness. What am I going to do?”
There was one time when my pediatrician was on vacation, and I had to see one of his partners. I felt Alex was just so sick, but this doctor told me “You are just so stressed. You need to take your kids to grandma’s and just get a break. There’s nothing wrong with Alex.”
I was so mad at him, and I will never forget him telling me that.
I remember taking Alex to my pediatrician with a fever on his 1st birthday and my pediatrician told me that if he still had a temperature on Monday to take him to the emergency room at Children’s Mercy and he would tell them we were coming. Well, I went home, but I was going to take him no matter whether he had a fever or not because by then I knew something was wrong with him.
We went to Children’s Mercy ER on Monday morning, and they admitted him for 3 days, then he was discharged with “Fever of Unknown Origin”.
At this point, my pediatrician was just grasping at straws, and he said, “I think he needs his tonsils and adenoids taken out” and he referred us to a surgeon at Children’s Mercy. We scheduled an outpatient surgery to take out his tonsils and adenoids. I remember sitting in the waiting room. The surgeon came out and sat down beside me and put his hand on my knee. He said, “Alex is doing good. He is in recovery, but you have a very sick little boy.” I didn’t understand. He said, “The best way I can describe it is I took out 14 sets of tonsils.” I asked him, “What do we do?” He said, “I don’t know. He is very sick and I don’t know what to tell you.”
I said, “I’m not going to go home.” Because it was outpatient surgery, they didn’t plan to admit him, but I wasn’t going to leave that hospital. We went to see him in recovery and the nurses were giving me home instructions and I said, “I’m not leaving. Something is wrong with him.” They said, “You have to leave. He’s not admitted”. And I said, “I’m not going.”
They made us leave the recovery room, but I just sat on the floor in the hallway and said, “I’m not leaving until somebody tells me what is wrong with my son.” He was so sick, and I was so tired. Finally, they said, “We can’t admit you because you don’t have a doctor to admit you, but we have a room in the burn unit that is open, and you can stay in there.”
We stayed in the room on the burn unit for about 4 hours and then they said “A room has opened up on the floor and you can go there, but you’re not admitted.”
We went to this room and the nurse came in and said, “I can’t take care of you, but I’ll show you where everything is.” I stayed there that night with Alex and my husband went home with Eric.
In the middle of the night, I got up to check on Alex in the crib and I put my hand on his back, and he was so hot. That was the hottest I have ever felt a child. I went out and told the nurse that someone needed to take his temperature. She said I can’t do it, but here’s a thermometer and she handed me a glass thermometer. I went back and put that thermometer under his arm and the mercury went all the way to the end of the thermometer. I started crying and I went out to the nurses’ desk and showed them the thermometer. The nurses finally called someone who admitted him that night. At that point, they got the cooling blankets out and put him in a bath and they started taking care of him.
He was admitted to the Immunology Department and they began testing him. They even did a bone marrow biopsy but they couldn’t find anything wrong. We were there just short of a month, and I felt like I was just watching Alex die. They had to put in a feeding tube because he stopped eating. I was begging them to do something, anything, send us to another hospital. Tell me where to go. The doctor just said, “We’ll figure it out.”
One morning I thought, this is it. I was standing at my door at 6 o’clock in the morning, just waiting for the doctor to show up. When I saw him walking down the hallway, I started begging him to send Alex’s blood to other hospitals. Someone had to know what was wrong with him.
He didn’t want to do it, but he finally agreed to send out blood to 5 hospitals. All 5 of the hospitals immediately wanted to see Alex. The closest was St. Louis, but it was a research facility, not an actual hospital, and they told us the maximum we could stay there was 5 days.
So, I packed for 5 days and we drove. We had Eric with us, and I was pregnant, and we had Alex and we drove to this research center in St. Louis. At this point, Alex was too sick to cry. He was just like a limp rag doll when we carried him in there.
This doctor already knew something about what Alex had before we got there. He had already tested Alex’s blood. He knew this was an immune deficiency, but we didn’t know that yet. He began to ask us questions. The first question out of his mouth was “Did you have a problem with his umbilical cord?” I just lost it, and I started crying. I said, “Of all questions, why would you ask me that one?” He said because “that’s the first sign of an immune disorder.” I said, “You mean he could’ve been diagnosed right after birth?” and he said, “Yes if he had seen the right doctor, but this is very rare.”
(SCID Angels has researched and learned that late detachment of the umbilical cord is specifically associated with a different PID, leukocyte adhesion deficiency (LAD) that is primarily a neutrophil disorder.)
The doctor said “Alex is too sick to stay at the research center. We need to admit him to the hospital.” Alex was admitted and everyone who came in to see him kept saying, “You have a very sick little boy.”
Then the immunologist wanted to meet with my husband and me. I remember he started talking to us and then he started crying. I still didn’t understand. I was thinking “Why is he crying?” I had no idea what it all meant. He told us that Alex had SCID and would need a bone marrow transplant, but it still hadn’t registered with us yet.
He knew I was pregnant so he tried to explain to us that this next baby could also have SCID. They knew Alex was positive for CMV. They had tested me as well and I was also positive for CMV. He then explained that if I had contracted CMV while I was pregnant it would be passed on to the baby. He explained that this would cause the baby to have a multitude of issues. But if I had contracted CMV before I got pregnant then the baby would not have those issues.
(Many people are infected with CMV, which is a common virus. It usually doesn’t cause significant problems for healthy individuals. However, it can be more serious for people with weakened immune systems, such as SCID. Pregnant women who become infected with CMV can pass the virus to their unborn child, potentially causing birth defects.)
But nobody knew when I contracted CMV, so he advised us to have an abortion. I just couldn’t believe he even suggested that. He really kind of pushed for that. But we didn’t.
He told us that this was going to be a long road ahead of us, but he was going to help us find the right place to go. I remember him telling us the first SCID child born to a family often does not make it. It still didn’t register with me because Alex was still here.
(Today, most infants with SCID are detected through newborn screening leading to a reduction in the number of deaths caused by delayed diagnosis.)
After the surgery, Alex was on a ventilator, so he had to go to the ICU. (Intensive Care Unit) It was an awful experience. There were many times when I would see the team of doctors come into the ICU to talk and I would start having contractions. Eventually, they stopped talking to me and would only talk to Ryan.
One day when they came in, I saw them and left to sit in the waiting room where I started having contractions, but this time it was real. I was sitting in the waiting room trying to breathe through them. I was only 26 weeks along in the pregnancy. A young man in the waiting room convinced me to go to the hospital because we were in the children’s hospital, and I had to go to the maternity hospital.
I went to tell Ryan that I needed to go to the hospital, but he didn’t know what to do because the doctors had just told him that Alex was not going to make it through the night and he needed to decide if Alex should be listed as a DNR (Do Not Resuscitate). He didn’t know whether he should go with me or stay with Alex.
I went to the maternity hospital while Ryan stayed with Alex. They gave me an IV to stop my contractions and miraculously Alex made it through the night. He actually made it through Christmas and New Year’s, and they eventually extubated him after having spent 4 months on the ventilator.
By this time, the doctors had found a hospital where two little girls who were very similar to Alex had already been treated. It was Dr. Lisa Filipovich, who was in Minnesota at the time, who had successfully treated these 2 girls. So, it made sense for us to go there.
We got to the University of Minnesota at the end of January 1990 and I’m now eight-plus months pregnant. Alex was off the ventilator and stable. He was a happy little boy. He was even able to play.
I found an OB right away and on February 27th I went into labor. I delivered Braden, our third son, in the maternity ward of another hospital where he was immediately put in isolation while they tested his immune system.
Alex was at the University of Minnesota, Braden was in isolation at a different hospital, then Eric, our oldest son, was staying in an apartment in Minnesota with my mom and Ryan’s mom flying in and out every two weeks to care for him. When Braden was a week old, they called and said that he had SCID as well. He couldn’t be Alex’s donor and he needed a bone marrow transplant too. I was just overwhelmed. I didn’t know what to do.
They transferred Braden over to the University of Minnesota so both boys were at the same hospital now. Alex and Braden were on the transplant unit across the hallway from each other, and both were looking for unrelated donors because Eric wasn’t a match for either one.
Alex got his transplant first. His chemo started on Easter of that year, 1990. His donor sent a little teddy bear and a letter with his marrow. I’ve never met him, but the letter said his wife had had a bone marrow transplant and that is why he was on the list.
About 4 weeks after his transplant, Alex suffered complications and had to go on a ventilator. He got his transplant in March, and he died on June 28th.
During all of this, they found a donor for Braden and he had his transplant on June 14th. He was going through the worst stages from chemo when Alex died.
Now, we needed a funeral for Alex, and I didn’t know what to do. We took Alex back to my hometown in Kansas, while Braden was still in the hospital. Thankfully, the University of Minnesota had a program where they assigned volunteers to help take care of you. These 2 women were assigned to our family. One was my age and one was older. They did everything for us. They would bring us food and do our laundry and they came to the hospital every day. So, while we left with Alex, between the two of them, they would be there all day taking care of Braden. I’ve remained very good friends with the girl who was my age. We’re still in constant communication.
I was gone for about 4 days for the funeral and when I went back, I had to go to the same floor where Alex had just died. It triggered so many emotions. I had to walk in there again to take care of Braden. I just didn’t know what was going to happen with him. Was he going to die too?
Braden was discharged from the hospital in August, but we had to stay in the area for frequent appointments, so the older volunteer said for us to come to her house, and she’d take care of us. Braden and I went and stayed with her for about a month. He was doing really well.
When we were finally cleared to leave, it was the first time that I had gone back home to Kansas City. I had left expecting to be gone for 5 days, with Eric and Alex, and came home with Eric and Braden, which was so weird. I left with two boys, and I came back with two boys, but not the same two.
Braden did really well, but he hadn’t learned to eat. He was on a feeding tube for a couple of years at home.
Then when he was about a year old his liver enzymes were elevated. Dr. Filipovich wanted us to come back to do a liver biopsy on him. Afterward, they told me to keep him on his side and not to let him get up. He didn’t try to get up. He was just lying there. I thought, “Something is not right,” but nobody came in to check on him. I put the blood pressure cuff on him, and it was really low. I told the charge nurse that something was wrong. The next thing I knew they were taking him back to surgery. They had accidentally cut his superior vena cava. This 2nd surgery was such an emergency that they left a huge scar where they cut him open, and they accidentally cut his diaphragm on the right side. He went to the ICU on a ventilator. I thought, “Here we go again”. I prayed more that night than I’ve ever prayed in my life, and I promised Braden I would not leave his side until he got off that ventilator and I didn’t.
Now he’s the healthiest kid. When he was 24 years old he even left the country with $100 in his backpack and traveled for 6 years, living in some of the dirtiest places.
Barb: When did you decide to have another baby?
Marcia: A couple of years went by after Braden was born. I still wanted a big family and I thought, “What if we just have one more? Surely God will not do this to us again.”
We got pregnant and when I found out it was a girl I thought, “She’s going to be perfect.”
Eric has blond hair while Alex and Branden had brown hair. When I was delivering Haylie, I asked the doctors what color her hair was. I thought, “If she’s blond, she’ll be okay.”
(ZAP70 has not been tied to hair color)
They said, she’s got a head full of dark hair and I just instantly crumbled. I thought, “She’s going to have it.” That is just what was in my head.
They put her in isolation, and we waited, and after two days I called the doctors at the University of Minnesota. I said, “You have to know, just tell me”. Dr. Shapiro told me, “She does have it.” I just lost it. I really was not prepared for that. She stayed in isolation here for about 3 more weeks and then they flew her out to the University of Minnesota. She was born on September 11, 1993, and she was transplanted on October 29th, but Eric wasn’t a match for her either.
Dr. Filipovich went on the registry and found 1 match for Haylie. The boys had had several matches, but Haylie only had one. She said, “It is not a perfect match, but it is a really good match and it’s you. You’re a 5 out of 6 match.”
I couldn’t believe that, but Dr. Filipovich said she had sent it out to 5 or 6 labs to be sure. So, I donated marrow for her, and she did fantastic. She didn’t have any issues. By now, I had learned a little bit about how to care for a SCID baby and I wouldn’t even let any nurses come in her room. She was discharged in 63 days.
(In 1993 this was incredibly fast)
We then stayed locally with the same lady who I’d stayed with after Braden’s transplant.
Over the years, Haylie has never had any issues related to SCID but at 9 years old she was diagnosed with Graves’ Disease, an autoimmune disorder. There are thyroid issues in my family, and the doctors say she might have had this anyway.
Barb: Do you have any lessons that you’ve learned through all of this, that you would like to share with other families?
Marcia: I would just say to somebody that has a SCID child, if you think something is going on, go with your gut. Be an advocate for these babies. You have to trust your mother’s intuition.
Barb: Obviously, family is very important to you. I know that after Haylie was born you went on to adopt two more children.
Marcia: There was no way we were going to have another child of our own. One day I was sitting in my living room reading the paper. There was this big article that said: “Do you have it in your heart to love an adopted child?”
This was speaking to me. It was a guy here in Liberty, almost next door to us, that was helping an agency with adoptions from China. I immediately called him. We adopted Kinsey when she was nine months old and then two years later, we got Ellie at one year old. That was the best thing we ever did. I would’ve adopted more if we could have.
Braden is now married to a girl from England whom he met in his travels, and they are very happy. He’s just so healthy. I would just love to meet his donor. It was a man, but he wanted to remain anonymous. It’s just unbelievable the gift he gave us.
I can’t imagine what transplant would’ve been like had I had the internet back in the 80’s. I had never in 35 years of having children with SCID met another SCID family. It was only through the internet after I found you and Heather that I got to know other SCID families.
Don’t miss an issue of our Quarterly Newsletter. Sign up now.