There are no wrong paths to take when determining whether or not to expand a family, either by natural conception, IVF with PGT-M, adoption, or not having additional children.
Caroline and Jeff are the parents to ADA SCID patient Eliana. They agreed to share the decision process they used to move forward and have another child. While each family may look at the exact same questions and concerns and make different choices for their own family, it can be helpful to openly discuss this very difficult subject and understand how others have approached their decision. This is not a “one answer fits all” type of discussion. Each family will have to decide what option works best for their individual situation.
Caroline: Our decision of whether to have another child and how to go about it, after navigating our way with our first child through some rough waters with ADA-SCID, was something we researched and talked about at length.
Eliana was born in 2013 with ADA-SCID. Like most other states in the USA at the time of her birth, our state did not yet have SCID included in its newborn screening panel. She was 3 months old by the time a persistent cough, failure to thrive, and chronic diarrhea led to her hospitalization and diagnosis. She had gene therapy at 10 months old at The University of California, Los Angeles (UCLA). Three months later her immune system started to function – but it was out of control which led to Hemophagocytic lymphohistiocytosis (HLH), a life-threatening autoimmune disorder. Heavy steroids and more chemo eliminated the HLH.
ADA-SCID is autosomal recessive, which means each child receives one ADA gene from each parent, Every person has 2 ADA genes. Each parent that is a carrier of ADA deficiency has 2 ADA genes, but only 1 that fully functions. Jeff and I are both carriers and Eliana inherited both deficiently-functioning genes from us, which resulted in SCID. There is a 1 in 4 chance of this form of SCID occurring with each new child Jeff and I have together.
With the hope that we would still have another child, and considering the genetics, our experiences thus far with ADA-SCID, and what treatment options might be available, Jeff and I discussed our options: adoption, another child conceived naturally, or In Vitro Fertilization (IVF) with Preimplantation Genetic Testing for Monogenic/Single-Gene Disorders (PGT-M)
Ultimately, we decided against having another child naturally. We chose IVF with PGT-M for several reasons. First, Eliana was almost 3 years old and had just come out of isolation (which was extended due to the HLH and the steroids). If we had another SCID child, the whole family, including our newly “freed” daughter would have to go back into isolation likely for a few years. She was finally able to start socializing and playing with children for the first time ever and we did not want to take that away from her. We did not want her to forgo fresh produce, seeing people’s faces without masks, visiting family, and other things that would likely continue to have a developmental and psychological effect on her. Second, we would not be able to protect a second SCID child from germs as well as we did with our first – with Eliana being a toddler and running about the house, if the next child did get an infection, it could be much worse than when Eliana was sick before diagnosis, and jeopardize any SCID treatment outcome. Third, there is no guarantee that gene therapy or a bone marrow transplant would be successful for the next child. Fourth, we did not know if gene therapy would even be available for the next child. Fifth, despite the high cost of IVF, this one-time cost is still cheaper than the accumulated costs we already had with one SCID child. We continued to have some expensive medical costs for Eliana, and introducing a 2nd set of high medical costs would make it harder to afford the basics we need for our children. Finally, while not a factor that would influence our decision, some may want to consider the secondary physical and cognitive issues that might accompany ADA-SCID.
For a SCID family, IVF with PGT-M can serve to either (1) select an embryo without SCID as a future sibling, or (2) be used in combination with HLA typing to select an embryo to have a sibling serve as a matched sibling donor, while the SCID child is in isolation and on prophylactic meds. The latter option is a long road though, as the whole IVF process takes at least 11 months, and many doctors think cord blood does not contain a sufficient dose of stem cells, so they would want to take more from the matched sibling’s marrow after they have grown a bit.
Eliana had already been treated with gene therapy, so we were not seeking a matched sibling donor, just a healthy sibling. Nevertheless, we did HLA testing and implanted a match, because we thought it would be beneficial to have a sibling that was an HLA match just in case there was an issue many years down the road.
There are many things to consider, and each family dynamic and SCID journey is different. There are no wrong paths to take when determining whether or not to expand a family, either by natural conception, IVF with PGT-M, adoption, or not having additional children.
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