lack of diversity hurts urgent search for stem cell donors
laura laycock collard is part lebanese, which fits the description of less than two per cent of canadians in the registry.
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adenosine deaminase and the search for a stem cell donor
'until he gets the stem cell transplant, you are pretty much just buying time with your kid.'
jun 23 2021
9 minute read
jakob was diagnosed through a newborn screening test.
supplied
when andrea abdul found out her newborn son, jakob, had an extremely rare autoimmune disorder her first thought was how to fix it. unfortunately, for the abdul-guziak family, a cure would not be as simple as a medication.
jakob was diagnosed with severe combined immunodeficiency (scid) due to adenosine deaminase (ada) deficiency. patients with ada scid, have a compromised immune system, and as a result are unable to fight off most types of viruses and infections, according to the u.s. national institute of health.
a long-term treatment would require a stem cell transplant, which would kickstart jakob’s immune system. but to have the best chance at a successful transplant, jakob needs to find a donor with a close genetic match to himself — difficult, considering jakob’s colombian-polish background.
now almost two years old, jakob’s parents have worked around the clock to ensure he stays safe while still experiencing as much of life as possible. throughout all of this, they continue to advocate for stem cell donations, which can offer jakob and thousands of other patients a new lease on life.
this interview has been edited for length and clarity.
what led to jakob being diagnosed with this condition?
jakob was diagnosed in july 2019. he was diagnosed through the newborn screening test that was implemented in alberta. there are a lot of kids with scid who go undiagnosed and then they pass away at just a few months old because, i mean, a baby comes, family and friends come over, you expose them to everything, you want to share with them. and unfortunately, people can be sick and not even know it, but pass it on to the baby. that’s mostly what happens.
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jakob is one in a million because i’m from colombia, his dad is from poland. it’s really rare to find the same genetic defect in two people that are so genetically distanced. most of the time, these types of genetic defects happen in families that share similar dna. but in our case, there’s absolutely no way.
what goes through your mind when you learn your child has this rare condition?
no parent is ready for that type of diagnosis. everything changed, absolutely everything.
from the moment they said that he had this, we started thinking about “okay, so how can we fix it?” and we thought that the fix was going to be very easy. but the fix has to be either a bone marrow transplant, or what they call gene therapy. for his bone marrow transplant, he will need a match. jakob is half hispanic from my side and half polish, or caucasian european, from his dad’s side, and so it is a really complex mix.
to treat the ada part, he receives an injection two times per week which replaces that enzyme that he’s missing in his body and protects his brain, protects his hearing, his lungs, all that.
jakob also gets [intravenous immunoglobulin or] ivig every month, from plasma donations. what it does is it takes all the antibodies that people get, and then puts them into jakob and for a month he is protected from colds and viruses. so that is really amazing. that’s why we are also very, very thankful and we try our best to encourage and to create awareness about both the stem cell transplant and also the plasma donation, how important it is for many patients out there.
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people donate blood or plasma, but don’t know where it’s going. the other day i shared a post on jakob’s blog and people were like, “oh my gosh, i’m so happy that i get to see where my plasma donation is going.” so, it is actually rewarding when i’m telling people, thanks to you, my kid is protected everyday from viruses. thank you for your donation. because it’s really important. and there’s lots of patients out there for sure that need it. and i’m not 100 per cent sure how with covid restrictions now, the donations are going. but i really hope that people don’t feel discouraged just to be able to go and keep donating.
but until he gets the stem cell transplant, you are pretty much just buying time with your kid. you don’t know when these are going to go down. and then if things, let’s say if his body doesn’t hold, then we will have to do an emergency transplant, what they call haplo*. [*editor’s note: a haploidentical transplant , or haplo transplant, is a stem cell donation where the donor only has about a 50 per cent genetic match with the patient. it usually comes from an immediate family member.] but right now, because of my cancer, i’m out of the picture. so, we’re counting only with dad in terms of an emergency.
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gene therapy is another option for these types of babies. but this therapy right now is only available in italy and it costs $1.5 million.
what is it like being a parent of a child with a life-threatening diagnosis?
your days are not like the normal days of sitting on the couch and talking about regular stuff. we are always thinking, hey, did you check if maybe you know, canadian blood services is doing this or if swab the world is doing that?
when you join these community of sick kids, it also changes you because when i see my kid and i see his smile, i see that he’s fighting. i can imagine and i can think about other parents going through the same thing, or in situations where we’re talking about that jakob is still stable, but there are older kids out there that don’t have the same amount of time. you start to think, how can i convince someone to join a registry and to hear my plea and to hear my story and to believe in my fight? it’s really tricky, because unfortunately, i feel that when it comes to health conditions sometimes people are not able to grasp the whole thing until they experience it themselves. you know, there’s people that motivate themselves really easy, but there’s others that they don’t feel like moving until they’re touched by something like this, right?
what is your daily life like?
our protocol has been always been the covid protocol, even before the pandemic. i remember once we were supposed to take a picture for a passport and we had to ask the person taking the photos, “are you sick? have you been around sick people? are you okay if we take our baby?” it was just very strange in that moment, because people did not understand why we were so cautious.
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jakob looks like a regular toddler, like a very normal kid. he looks very healthy. but what you don’t realize is that to be able to have this kid so healthy, you have to perform lots of things around him.
formally, we are not supposed to take jakob out of the house at any point except for medical appointments. but the injections he gets gives him a little bit of that boost in the immune system, then we are allowed to take him for walks with the precaution of, like, he can’t pet dogs, he can’t get too close to people. winter was kind of tricky, because you have to bring the park inside the house. so, we bought a slide, we tried to make it fun for him.
we do have to be very cautious with him also because he has no immune system, he can’t receive any vaccinations. so that is really scary. any cold, or any big infection can actually kill them.
this is all that he knows, but now that the weather is getting better it is important to have that exposure to the flowers, to the green, to the birds. it’s so important for kids to develop their senses. waiting until he’s much older to give him those social skills is not going to be very good for him.
in terms of history, kids who are not treated properly or are exposed to people before they are diagnosed [with scid] don’t survive past the second year. as scary as these first two years have been [my husband and i] looked at each other, and we’re like, man, we’re very close to the second year. we can make it. those are the little things that for us mean the world. because we are actually having the time, we are getting the time. and that’s amazing.
would finding a stem cell match mean that jakob could have a normal life?
yeah. there’s a lot of risk when we talk about bone marrow transplant or a stem cell transplant. there’s chemotherapy involved, there’s graft versus host disease when you’re talking about an unrelated match. but still, there’s lots of kids that they do really good with that. so, when we’re talking about a match or a transplant, we’re actually talking about that facility of giving him a new life and a new way of living. he will be born again, pretty much, with a new immune system. of course, like everything, it takes a little bit of time for them to recover and you still have to do the checkups and all that. but jakob overall would have a different life for sure.
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in our case, to be very honest, we know that it probably is going to be really hard for us to find a match for jakob. it’s been already maybe six months that we have been searching for a match. so, we know that it is difficult and it’s probably not going to happen. but, still, we feel that any difference that we can make through jakob, if people feel motivated, if people feel that they can help jakob they also can help other children. just because we are likely not going to get that match doesn’t mean that we can stop fighting, because there’s lots of kids out there that will be able to have that stem cell transplant or donation. we really hope that we can encourage lots of people out there.
i really hope that people understand that when you talk about most of the canadian blood services registries, it’s mostly caucasian people. i feel that other ethnicities have a harder time to find a match.
donating stem cells isn’t all like donating a heart or donating a kidney. you know, there’s so many myths about that type of process that people are scared of the process and what is going to happen. i hope that people can understand that by doing it, it’s not going to hurt and you can really save the life of someone that really needs it. every child or every adult that is going through this process is buying time, every day. and those precious moments that we have with them are so worth it.
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every little bit helps. there was a nurse that i had on my chemotherapy last time and she said, “teamwork makes the dream work.” it’s so true. you think about the team; you don’t need to know the people sometimes. you don’t have to have a family bond. we can work together for someone that really needs it.
to read more about jakob’s story, visit his instagram and facebook. those interested in learning more about donating stem cells can also visit the stem cell club and the canadian blood services.
what it feels like is a regular series that explores the experience of being diagnosed, treated and living with a health challenge. have a story to tell? email info@healthing.ca.
emma jones is a multimedia editor with healthing. you can reach her at emjones@postmedia.com or on twitter @jonesyjourn
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