Pathways to Parenthood
Navigating Family Planning with a Genetic Risk of an Inherited Neurodegenerative Condition: Exploring Your Options
Life is full of choices, and family planning is one of those areas where there are many options. Some individuals conceive spontaneously, conceive with assisted reproductive technologies, pursue fostering, step parenting or remain childfree. There’s not a right size fits all approach.
In this blog post, we'll explore various family planning options available, each with its own set of considerations, benefits, and challenges, focusing on when someone has a personal or family history of an inherited neurodegenerative disease such as amyotrophic lateral sclerosis (ALS) or frontotemporal dementia (FTD).
The Genetics of Inherited Neurodegenerative Conditions
One place to start on this journey is to understand the “genetics” of the inherited neurodegenerative condition. For some families, a specific genetic variant is identified. Having the genetic variant identified allows for the possibility for other relatives to get tested. Knowing the genetic variant can also open up additional genetic testing options relating to reproduction. If someone knows the condition is inherited but does not know the specific genetic variant, then some of the below testing options may not be available. Genetic testing may not be helpful to everyone. Some individuals do not want to know their personal genetic status or test future pregnancies for the condition. It is important to discuss with your doctors about the benefits and limitations of genetic testing for the inherited condition.
For some individuals, it may be helpful to identify the “recurrence risk” or chance to either pass on the genetic variant identified for the family or to inherit the variant. You can check with your doctor or genetic counselor to better understand the chance to pass on or inherit the genetic variant.
In many cases, the chance is 50% or 1 in 2 because inherited neurodegenerative conditions can have autosomal dominant inheritance. This means that each time the person conceives a pregnancy or embryo, there is a 50% chance to pass on the variant. However, there are other types of inheritance patterns for these conditions including autosomal recessive and x-linked which have different chances of passing on or inheriting the condition.
If someone knows the inheritance pattern is autosomal dominant and they personally have a genetic variant, then they would have a 50% chance to pass on the variant to their future children. Each time they conceive a pregnancy or embryo, there is a 50% chance the pregnancy or embryo will inherit the variant.
Sometimes people think if they have 2 kids and one of them has the variant, then their other child won’t have the variant. However, this is not how genes are passed on. Regardless of your other children’s result, each child will have a 50% chance to have the variant. The status of one sibling does not determine the status of the other sibling. For example, someone may have 2 kids and it is possible both kids have the variant, neither of the kids have the variant, or one or the other has the variant.
Knowing the inheritance and chance to pass down the condition may help inform which option aligns best with your circumstance.
What are the reproductive options available?
The options below are not listed in any particular order. There may be additional options that individuals pursue not listed. Ultimately, whichever decision(s) someone makes regarding their reproduction is the right decision for them.
Spontaneous Conception with Prenatal Diagnosis
Spontaneous conception is to conceive without any interventions - some may referred to this form of conception as “natural”, yet this term is fading away.
While pregnant, you can have the choice of testing the pregnancy for the genetic variant through prenatal diagnosis. By testing for the variant in pregnancy, this can either provide reassurance the pregnancy does not have the genetic variant, which for some, is important to know in order to be able to go through their pregnancy less anxious. Alternatively, the pregnancy may be found to have the variant which can give people the option to pursue interventions at that time. Testing the pregnancy would be through a procedure which has a risk to the pregnancy such as potential miscarriage, so this is not an option everyone is comfortable with.
It is important to know some clinics may be hesitant to provide genetic testing of a pregnancy because inherited neurodegenerative conditions typically do not have symptoms until the person is an adult, which is referred to as “adult onset conditions”. Usually, children and pregnancies are not tested for adult onset conditions as it is not expected to change the child’s healthcare management. Receiving a positive genetic test as an adult can be difficult, so the argument is by testing and revealing this information to a child, it may put undue stress on him/her as well as take away their autonomy to choose whether to learn this information or not.
In some cases, it may be possible to test the pregnancy, but with the understanding that a termination would follow if the results were positive. No doctor can force someone to pursue a termination, so this is not a requirement for prenatal diagnosis. However, the complexities of knowing a child’s status before him/her and a loss of their autonomy is something to weigh and discuss.
Spontaneous Conception without Prenatal Diagnosis
Another route involves spontaneous conception but without testing the pregnancy. Instead, someone may choose to have their child decide if and when they'd like to undergo genetic testing in their late teens to adulthood.
Assisted Reproductive Technologies
Assisted reproductive technologies are interventions used to help a person or couple conceive. Some interventions include intrauterine insemination (IUI), in vitro fertilization (IVF), and the use of donor egg, sperm, or embryos.
Preimplantation Genetic Testing for Monogenic Conditions (PGT-M) with In Vitro Fertilization (IVF):
IVF with PGT-M is one option for individuals who have a genetic variant. PGT-M is a genetic test of embryos in order to identify which embryo does not have the genetic variant. For embryos without the genetic variant, they are then transferred to the person’s uterus to hopefully become a pregnancy. PGT-M allows for the ability to substantially reduce the possibility of having a child with the inherited variant. In order to test embryos, the process of IVF has to ensue.
IVF is a multiple step process. Egg cells and sperm cells are retrieved by specialized doctors called reproductive endocrinologists (REIs). Egg retrieval takes weeks, careful planning, and medications. Ordinarily, an individual with ovaries releases one egg per month that could potentially be fertilized by sperm. However, for IVF, the goal is to retrieve as many eggs as possible in order to increase the chance of being successful. In order to produce more eggs more frequently than once a month, the person with the ovaries is given medication.
After many eggs are matured, the individual goes to their doctor’s office for egg retrieval. The number of viable eggs collected ranges from 0-30. Sperm retrieval can occur around this time. Once the eggs and sperm are retrieved, the sperm will fertilize the eggs in a lab setting.
It's pertinent to understand that not all eggs successfully fertilize, and not all fertilized eggs will develop into embryos. It can be disheartening to have a good number of eggs, but experience a loss in the number after fertilization.
Embryos are then tested with PGT-M and depending on the results, will determine which embryos to transfer.
PGT-M with IVF takes many months to complete and may involve multiple rounds of IVF given the number of eggs or embryos that are “lost” either to not fertilizing, not developing, or being positive for the variant or other health concerns. Insurance may not cover the testing or IVF procedure, so it is important to check with your insurance provider.
PGT-M requires DNA from the couple and/or donors as well as possibly the need for other relatives’ DNA and genetic testing reports. While PGT-M might appear as a straightforward option to avoid conceiving a pregnancy with the genetic variant, it still has its emotional ups and downs and uncertainty for success. It is not guaranteed that a couple has an embryo that is negative or suitable to transfer.
For more information, please check out this page on PGT-M.
Intrauterine Insemination (IUI) with Donor Sperm:
IUI involves placing sperm directly into the uterus during ovulation. If the person with inherited neurodegenerative condition is male, then using donor sperm can help prevent passing on the genetic variant. However, the success rate of IUI can vary, and multiple attempts might be necessary. A fertility clinic can further discuss donor sperm options and the success rates of IUI.
If the person with the inherited neurodegenerative condition is female, and she needs donor sperm for other reasons, it is important to know that PGT-M is not an option with IUI. PGT-M is only an option with IVF. So, if a female wants to prevent passing on her genetic variant and needs donor sperm, then she will need to pursue IVF with PGT-M.
Use of Donor Gametes (Egg or Sperm) or Embryo:
Utilizing donor eggs or sperm can be an option if you or your partner have an inherited neurodegenerative condition. Instead of using the sperm or egg from the person with the genetic variant, a donor is utilized to provide the other genetic material needed for an embryo. A fertility clinic can further assist with selecting a donor and the next steps. RESOLVE is a helpful organization with more detail on this option.
Using a donor embryo is also an option as some families have more embryos than they intend to transfer and are open to sharing them with others. Empower with Moxi is an organization with educational content on embryo donation and helps with matching a family with an embryo. Utilizing donor egg, sperm, or embryo avoids the chance of passing the genetic variant to a pregnancy. However, it's important to consider emotional and psychological aspects, such as the disclosure of donor conception to the child.
Surrogacy:
Surrogacy entails an individual with a uterus carrying a pregnancy on behalf of another person or couple. This option can be considered if someone is unable to carry a pregnancy due to health concerns or for a same sex couple. There are two types of surrogates: gestational surrogacy and traditional surrogacy. Traditional surrogacy is the less pursued option as the surrogate provides their egg cells and carries the pregnancy. Gestational surrogacy is when the surrogate carries the pregnancy, but the embryo is conceived with either donor egg/sperm and/or the intended parents’ egg/sperm.
For surrogacy, it often requires IVF; therefore, PGT-M can be made available as well. The above description of the PGT-M process would be the same except there will need to be special considerations regarding the use of a surrogate and legal discussions. Surrogate.com provides more information on next steps and considerations.
Adoption:
Adoption opens doors to providing love and nurturing homes to children. Numerous resources offer a window into understanding the adoption process. Adoption’s journey might be time-consuming and emotionally challenging. Those who were adopted might also navigate emotional difficulties. Adoption shouldn’t be left as a last resort but a priority for completing ones family.
There are different adoption agencies and options to explore. Reaching out to an organization and attending an informational session can be one of the first steps of the process. Considering Adoption has great content on how to initiate adoption. Another helpful resource and lens into the process is by Youtuber and lawyer, Lucrece Bundy.
Fostering:
Fostering is a chance to offer care and stability to children in need. A good place to begin is with learning about foster care and the impact on children. One way to do this is by contacting agencies and attending their orientations. Likely, there wil be an application and training involved prior to being able to foster children.
The journey into fostering can create a positive impact on children's lives, offering them stability, care, and opportunities to thrive, but there are important considerations. Youtuber, Laura, and her accompanying website, Foster Parent Partner, shed light on some of those considerations.
Living without children:
Choosing not to have children is a valid option. Perhaps parenthood never resonated with you. Others may have the desire for children, but feel the other options above are not concordant to their values, hopes, or finances. Embracing a childfree lifestyle enables you to dedicate focus to other aspects like personal well-being, career, community involvement, and relationships. However, it might bring about internal conflicts too. Seeking support and consulting your healthcare provider regarding contraception can be your next steps.
Several support organizations can offer insights:
For individuals who are childfree by choice: We are Childfree
For individuals who are childless by circumstance: Gateway Women with resources for men
The above are some options to family building, but it is not a comprehensive list. People may pursue multiple family building options whereas others will stick with one.
Considerations and Decision-Making
When contemplating your family planning options, it's essential to consider factors beyond genetics, such as your emotional readiness, financial stability, support network, and overall health. Here are some questions to reflect on:
What are your values and priorities? Consider your desire to have a biological connection to your child versus your commitment to providing a loving home regardless of genetic relatedness.
How do you handle uncertainty?
What are your emotional and physical capabilities?
What resources do you have? Think about the financial implications of various family planning routes, from fertility treatments to adoption costs.
What is the potential impact on your relationships? Discuss these decisions openly with your partner and family to ensure you're on the same page and have a strong support system.
Each of the above options carries within it a blend of hope, joy, heartache, and an entire spectrum of emotions akin to any family-building journey. There is uncertainty and a lot to grapple with but families are created every day with one or a combination of the above options. Seek support from your family, friends, and support groups and know that whichever route you choose, it’s the best one for you and your future family.
