The Legacy Continues


Those affected with XSCID

 

This picture represents the 4 generations of Scott’s family who are affected by X-linked SCID either as a female carrier or an affected male.

From the top left: Scott, his daughter Ashley, his mother Marilyn, His great nephew Gannon being held by Scott’s niece Katlyn, his sister and donor Kim. Bottow row: His niece MaCahla, his daughter Sarah, his daughter Lainie, his great nephew Connor, and his niece Abby.

Not shown is his sister Kamala, also a carrier, who passed away at 36. 

Read the complete interview with Scott.

 

Prior to my interview with Scott, I had asked if he would like to include his daughters in the discussion. Scott and Lynn agreed to allow their daughters to speak and express their feelings. As the daughters of an X-linked SCID patient, they all carry the same defective X-chromosome which affects Scott, making them all carriers. When they have children, a girl will have a 50% chance of becoming a carrier and a son will have a 50% chance of having X-linked SCID. It was easily apparent during my discussion with them that they have not only had family discussions regarding their carrier status, but they have also watched closely as their cousin, Katlyn became a mother to two boys with XSCID. 

Barb: Scott, I know you understand the genetics of XSCID, that any boy you have would be unaffected, but every girl you have would be an XSCID carrier. At some point, you and your wife decided to have children. Was that a big decision for you?

Scott: You can see the three lovely daughters that I have here. We had to morally think about, are we going to put something on them that they will have to deal with? Because my daughters are fine, but two of them are struggling with what to do (in the future). So, this is something they will have to deal with. Lynn and I decided that we were not going to let this disease control us and we were going to move forward with a family.

Barb: As more and more XSCID patients survive to become adults, I know this will become an important topic. I also realize this is a tough subject for some families to openly discuss. I’m glad that your daughters wanted to be here for this discussion. Do any of you have any feelings on this subject that you want to share?

Scott: Let me introduce you: this is Ashley, 10. This is Lainie, 14 and this is Sarah, 17. So, girls do you have any take on all this stuff?

Lainie: Personally, I don’t plan on having kids.

Sarah: I don’t know if I’ll end up having kids or not. I don’t know. But if I had a boy like that, I feel like it would kind of suck. It’s supposed to be a 50% chance, but so far, everyone who’s been able to get it (in our family) has gotten it.

Scott: Yeah, that’s a good point to make. Let’s look at our family’s genetics a little bit. So, the mutation was tracked back to my mom’s mom, who was alive at the time, so they got to look at the genetics back to her. The mutation happened when my mother was born. And since then, the X-chromosome, the bad X-chromosome has been dominant. It is the chromosome that’s been passed on to everyone. That includes obviously my great nephews. My two sisters (Kim and Kam) were both carriers, and then between the two of them, they’ve had three daughters. All three of them are carriers. One of their daughters (Katlyn) has had children, 2 boys (Connor and Gannon) and they both have XSCID. So, if you want to do some odds, it’s not hard to do those odds. That’s 100%.

Sarah: Seeing what Katlyn went through when she got pregnant. She had to get a test done. She had to find out the gender. She didn’t have a choice.

Lynn: She had a choice. I talked with her about it. She wanted to know if I thought she should find out the gender. I told her “Yes”, because if it was a boy and (he) was affected, that would allow the medical team to already have a plan in place instead of being surprised. But if they knew months in advance, which they did, that would allow them to do the research and find the best plan. There are still a lot of medical people in the world that don’t know about this. This allowed them to figure out the best treatment plan for that baby.

Sarah: Yeah, that to me feels like you don’t have a choice, like you would want your baby to have a plan if it was a boy.

Scott: It was a choice in my opinion, but being prepared is always better.

Survival rates are pretty high now and screening is in all 50 states. You guys were part of that, I want to thank you so much. That was fantastic. I don’t know, I just have this whole thing where I’m not letting it control me.

Lainie: To me, I don’t think so. You know, that on top of being pregnant for nine months, it doesn’t seem worth it. No. I can just adopt.

Ashley: Yeah.

Lainie: There’s so many kids that need to be adopted.

Marilyn: I think you’re all too young to make a decision.

Barb: At least you’re all talking about it and you’re thinking about it. The important part is the discussion. No one is making their final decision today, but you’re already looking at your options. I think that’s a really good approach. I just have to say that. I’m very proud to see you all talk about your concerns for another SCID baby. You may change your minds, but you’ve all thought about it and had open discussions.

Sarah:  I’m personally keeping my options open. If I have a choice, I would probably adopt kids, but you never know.

Scott and his family members

Scott – XSCID – sibling BMT 1977 – sibling BMT 1981

Father – Ed – deceased
Mother – Marilyn – carrier

Sister – Kim – donor for Scott – carrier, mother to Abigail
Sister – Kam – deceased – carrier, mother to Katlyn and MaCahla

Wife – Lynn

Daughter – Sarah – 17 – carrier
Daughter – Lainie – 14 – carrier
Daughter – Ashley – 10 – carrier

Katlyn – Kam’s daughter – carrier, mother to Connor and Gannon, donor to Connor 
MaCahla – Kam’s daughter – carrier
Abigail – Kim’s daughter – Carrier

Connor – Katlyn’s son – XSCID – maternal BMT 2017

Gannon – Katlyn’s son – XSCID – gene therapy 2022

Don’t miss an issue of our Quarterly Newsletter. Sign up now.