A Month of Medical Uncertainty

Alison and I recently made it through one of the most difficult months of our lives. Pregnancy can be difficult under the best of circumstances and our circumstances were about as far as they could be from ideal. For the past month, we have been living under the cloud of medical uncertainty. When Alison was 26 weeks pregnant I was diagnosed with a genetic condition that had potentially very scary implications for our baby girl. 

We received my official diagnosis while we were in Dublin. We spent the flight home writing a message to share with our families to let them know what was going on and how they could help. It was too painful for us to talk about this in person at this point:

Tuberous Sclerosis 

Eric was diagnosed with tuberous sclerosis in May. This is a genetic condition and our baby girl has a 50% chance of inheriting this condition. Details on tuberous sclerosis can be found here: TSC Alliance

How this was discovered 

Eric experienced two sudden, severe headaches in early April. He went in for an MRI on May 3 and they discovered cortical tubers compatible with TSC. A quick Google search indicated this was genetic so we engaged my midwife team who referred us to genetic counseling. Eric took a genetic test on May 8 and we received confirmed results of a TSC2 mutation on May 16 while in Dublin. 

Eric’s case is unusual in that he has no outward symptoms. It is uncommon to receive a diagnosis in adulthood, in fact, the TSC clinic in SLC is operated by Primary Children’s Hospital. Interestingly, while Eric’s headaches could have been caused by TSC, it would be unlikely. We found this condition purely accidentally. He is meeting with neurology later in the summer for further discussion on the headaches. Based on initial conversations with his PCP who consulted with neurology, these headaches don’t seem to be a large cause for alarm and he has not experienced anything since early April. 

What this means for Eric 

Eric has had this condition since birth and has not experienced any discernible symptoms. We are grateful he received a diagnosis now so we can monitor potential internal symptoms. Eric will have many Dr. appointments throughout the summer to determine any causes for concern and we will react accordingly. It is likely that once we get through the initial appointments, he can continue to monitor this with his PCP. This will require some level of active monitoring for the rest of his life, but we have no reason to believe he will not live a full and normal life. 

Our biggest risk at this point is his kidneys which have not been monitored (his heart has been monitored since the age of 2). However, he has not experienced any symptoms consistent with kidney challenges thus far. Again, we are grateful for a diagnosis now so we can monitor rather than react if symptoms occur in the future. 

What this means for our baby girl 

She has a 50% chance of inheriting this condition. While Eric has extremely minor symptoms, it is not safe to assume that our baby girl will display the same way should she have this. Members of the same family can present with very different symptoms. We will not likely not have a firm diagnostic outcome until 1-2 weeks after her birth. However, we are engaged with genetic counseling and Alison will do a blood screening this week. While false positives and negatives can happen with the blood screening, it will provide some direction. We should have the results in 3 weeks. We are also meeting with maternal-fetal medicine on Wednesday and have a fetal echo scheduled on June 4 to obtain more imaging. We are reassured she had a normal 20-week ultrasound, as symptoms can sometimes appear during this scan. We hope to have a good idea whether she has this condition at birth and then the genetic test will simply confirm. 

Should she have this condition, we will work closely with pediatrics to monitor her symptoms and ensure treatment. The symptoms can be scary, and we are extremely concerned. However, most people with this condition will live a full lifespan. 

This also makes it more likely our baby girl may be an only child. We have options going forward, but this makes having another baby a lot more complicated. 

What this means for Alison

Alison is experiencing severe anxiety. She has been on Zoloft for 2 weeks and hopes to see some relief soon (it can take 4 weeks for efficacy). She is also meeting with a therapist on Wednesday. Sleep has been hard to come by, and the worry makes that worse. Alison needs space and understanding as she processes what this means. 

What we need 

We need love and support for our family as we navigate the upcoming months. We are reassured that we will have more answers as the weeks and months progress, but we are in a period now with more questions than answers. We are learning more every day and have accumulated a large and caring medical team to help us navigate this period of uncertainty. 

What we do not need 

We do not need questions about this condition or hypothetical situations. We don’t need lots of questions about how Alison is doing or if our baby is okay. We will provide updates as we have them and are ready to share. 

We love you and appreciate your concern. This has been very hard, but we love our family and we love our girl.

After we got home we had a flurry of appointments. Alison took the blood test the next day. This test would detect the genetic mutation I have with a 91% accuracy rate. We were told it would take 2-4 weeks to get these results. We would feel pretty good if these results came back negative. There were a couple of ways to get results that were even more accurate. We could wait until our baby girl was born and then have her DNA tested or Alison could have an amniocentesis. The amniocentesis carried a small, but scary risk that it could interrupt the pregnancy. We carefully weighed the risks against the benefits and decided that we needed to know what we were up against. That first week back Alison also underwent an amniocentesis. This could take longer to get a result but would give us assurance about whether or not our baby girl had TSC. 

That first week we also met with a maternal-fetal medicine doctor. He was great. So empathetic. There really wasn't much he could do, except to look at our care plan and tell us we were doing everything he would recommend. He treated us like his own children and gave us some really helpful advice. He also helped us get a fetal MRI scheduled. We wanted the fetal MRI because imagining was a helpful data point. Not seeing something didn't mean she didn't have TSC, but it made it a little less likely, and if we did see something on an MRI, it could confirm more quickly that she had TSC. 

Alison had the fetal MRI and the amniocentesis on the same day. Before the amniocentesis, there was an ultrasound. It was the first time in weeks that we got to see our baby girl, but we couldn't even enjoy it because we were so worried. The ultrasound tech asked Alison if she wanted to see a 3d picture of our baby girl - she almost said no because this was so hard. She said yes and then cried as we saw our baby girl. Seeing her cute face made the medical uncertainty feel so much harder. The amniocentesis sounded scarier than it was - fortunately, Alison and our baby girl didn't have any significant adverse outcomes from the amniocentesis. We would ultimately be really glad Alison did the amniocentesis because it would provide certainty when we really needed it. 

The next week was our hardest week. We had no appointments and we didn't get any additional information. Waiting felt impossible. Making decisions felt impossible. We didn't have the information we needed and the only way to get it was to wait. The waiting was unbearable. So many of these nights Alison woke up in a panic and then woke me up to help her calm down and get back to sleep. Those were hard nights. There were so many tears and so many questions we couldn't answer. We had to take it one day at a time. It was immeasurably worse for Alison. At this point, our baby girl is moving and kicking. Alison could not escape the constant reminders that she was pregnant and that she didn't know what the future held for our baby girl. 

During this time we spent basically every waking moment together. With her anxiety, Alison couldn't take me being anywhere else. Fortunately, my work was really understanding (they are always flexible, but usually I go into the office on occasion) these weeks I was 100% remote so I could be there when Alison needed me most. 

The next week ended up being a key week. We celebrated our 13th anniversary. Given everything that was going on we decided to keep it low-key this year. We got the best gift we could get when the results from the blood test came back. This screening test did not find the TSC mutation. While this wasn't 100% accurate, it meant that the odds were now in our favor that we would have a healthy, happy baby girl. We will always remember our lucky "13th" anniversary. When we got the results Alison cried so many happy tears. This was a huge relief. Alison's parents came over and we all went to dinner to celebrate the good news. 

We had a fetal echo scheduled on Tuesday and an in-depth maternal-fetal medicine appointment scheduled on Wednesday. With our good news on Monday, we considered canceling these appointments, but Alison counseled with her therapist, and given that there was still some uncertainty we decided it was best to proceed with the scheduled appointments.

The fetal echo was uneventful, as expected. The cardiologist seemed to wonder why we were there. We got it, the chances our baby girl had TSC were now much lower, but we were still looking for any reassurance we could get. After the fetal echo, we weren't sure how the maternal-fetal medicine appointment would go. At Primary Children's Hospital, they have the Grant Scott Bonham Fetal Center. This is an amazing group of practitioners who focus on helping individuals with high-risk pregnancies. We had no idea they existed. When we found out we may be dealing with a serious genetic condition we were lost. We did not know what to do, but the amazing thing was that doctors rallied around us and wanted to help. We had such an incredible team of medical professionals who really cared. The  Grant Scott Bonham Fetal Center reached out to Alison and told her they wanted to be part of her care. It was incredible. The appointment at the fetal center took most of the day. Alison had an ultrasound, we met with a maternal-fetal medicine doctor, and we met with a neurologist. This appointment was harder than we expected. We were able to enjoy the ultrasound because we were feeling much happier and less stressed. We then met with the maternal-fetal medicine doctor (she was great) and she took a little bit of the wind out of our sails. She reminded us that while we could feel some comfort from all the clean scans and the blood test we really wouldn't be sure until we received the amniocentesis results. We knew this, but hearing it from a medical professional really put it back into perspective. This wasn't helpful for Alison's anxiety. Meeting with the neurologist was also helpful, but really hard. We asked many hard questions about what life with TSC could look like for our baby girl. She told us what she sees from the people she works with and lots of the answers were what we thought, but they weren't reassuring. We left feeling drained and anxious. 

The results of the amniocentesis could not get here fast enough. We knew getting those results could take up to two more weeks. Fortunately, the results arrived faster than anyone thought. That same week we got our results and they were negative. We found out our baby girl has Alison's gene. She does not have TSC. We could not be more thrilled. This was like playing the worst game of Russian roulette you could ever imagine and somehow we won. 

For the month plus we lived under medical uncertainty a lot of the pregnancy felt like it was on hold. We closed the door to the nursery. We put away all of the little baby clothes. We hunkered down and didn't see a lot of friends and family. Now that we got good news the floodgates opened. We are full steam ahead on the nursery and preparing for this baby girl. We are back to celebrating Alison's pregnancy and being excited for our little baby girl.