Audrey and TJ Duggan are parents to son Dean Duggan, diagnosed with X-linked SCID through newborn screening in 2018. Dean has undergone one hematopoietic stem cell treatment (HSCT).
What treatments did doctors discuss with you as options?
During our main treatment consultation, our doctor discussed with my husband and I the three options that exist based on our son’s type of SCID, which is X-linked.
The first is no treatment, where you try to keep them healthy as long as possible through isolation and medications, but ultimately the result would be fatal.
The second option we discussed was a bone marrow transplant, also known as HSCT. If we decided to go this route, we actually had two different options. First, we could choose to do the standard conditioning and transplant that was normally conducted at our hospital, or we could choose to be a part of the “Conditioning SCID Infants Diagnosed Early (CSIDE)” study. The goal of this study is to determine if lower doses of chemotherapy will help babies with SCID achieve good immunity with less short and long-term risks of complications after transplant.
The third option was gene therapy. We discussed this option with two different doctors as well, to be sure we obtained full information on all of our options.
Which treatment did you choose and why?
We chose to enroll our son into the CSIDE study and complete a lower dose intensity conditioning regimen as part of his bone marrow transplant. We ultimately decided to do this option because it allowed our son to receive less chemotherapy, which would hopefully decrease his chance of complications during transplant from the medications, as well as decrease the chance of lasting effects from the chemo, such as infertility or other permanent organ damage.
What are some important points for parents to remember when considering treatment?
When choosing treatment, it is most important to consider the following factors first as it relates specifically to each child: 1. the type of SCID, 2. whether the child has a match on the bone marrow registry, or a sibling match, which can vary drastically depending on the ethnicity of the child, which is why encouraging others to join the registry is so important. Based on these two things alone, the type of treatment options available become clear. Each child’s situation is different, so it is important to start with these factors first before beginning research into treatment since many options are specific to diagnosis.
Tell us about the emotional side of exploring treatment. How did you cope with the uncertainty and stress of this part of the journey?
Surprisingly, after six weeks of isolation and waiting for an official diagnosis, it was a relief to find out the type of SCID so my husband and I could begin to formulate a treatment plan for our son. Waiting on results and not having a plan in place to address a life-threatening medical condition of your newborn is unexplainable.
Once we were able to begin the process with our doctors after getting the diagnosis, we felt so relieved and happy to finally have a plan in place to get our son healthy. We did not have many options or our son would not live, so that perspective helped make some of the heavy conversations of treatment, side effects, etc. a little easier to process, because they all seemed doable in comparison to the alternative.
To try and cope with the various feelings during this time, we did a few things. Initially, we tried to not read a lot online since there were not many reliable websites for information on SCID, and there is not sufficient data on the outcomes for children who are diagnosed and treated early without infection. So it was important for us to focus on our son specifically, and what our doctors told us about him and the treatment plan.
In addition, my husband and I tried to keep things as normal as possible. We were still a new family with a newborn we wanted to bond with and get to know, so we tried to focus on those things while isolated. We would always dress our son in cute outfits, play board games, watch shows, and just simply enjoy each other. My husband and I both agree that snuggling our new baby brought us the greatest happiness during the time of uncertainty.
What advice would you have for other parents as they explore treatment?
Our main advice is to use the type of SCID and availability of a match as your guide when choosing a type of treatment. In addition, since SCID is rare and a lot of centers do not have experience with treating it, we would recommend choosing a treatment center that is part of the Primary Immune Deficiency Treatment Consortium (PIDTC). These centers have the most experience with SCID, and it helps ease some of the anxieties as a parent when you are able to fully trust your doctors and treatment center.
Also, it is important to consider the short and long-term impacts of the conditioning regimen, as well as the possibility of full immune reconstitution.
Lastly, follow your instinct. When you find the right combination of treatment center, doctor, and treatment plan, you will feel it.
Is there anything you would like to add about exploring treatment?
Whatever treatment a parent decides is the right one for them and their child. Once they make a decision, they should be confident in it so they can be there for their child during the rest of the process.