Author: rebekahcarrizales

We are so thankful for our Thanksgiving baby. She did so much better than expected in terms of her breathing and lung health. She’s a very strong little girl. We’re so blessed to have her.

We’re also so thankful for the excellent team we are working with at the University of Minnesota. We were hoping she would stay in the womb longer, but she showed some drops in heart rate due to the compression between her, the umbilical cord, and the placenta. When the membranes ruptured, she lost the fluid that protects the umbilical cord from compressing. We’re thankful the team counseled us to deliver and helped us feel confident in that decision. Yesterday was the right time for her to make her entrance into the world.

Due to her lack of kidneys, she needs to get a dialysis catheter placed in her belly so she can start peritoneal dialysis within the next few days. Until she’s on a good dialysis schedule, she doesn’t have a way to get rid of the toxins the kidneys normally filter and excrete.

Please pray that the surgery goes well with no complications. It is scheduled for this morning at 7:30 AM. Also please pray for the dialysis— that she tolerates it well without complications such as leaking or infection. Please pray for her care team— that they are vigilant in their cares and have clarity in how to adjust her care as necessary to meet her needs.

We are praying she is a record-breaker. The smallest baby that has been successfully dialyzed and made it to transplant was 1200 g. Emy G is 1110 g. Please continue to pray for her. We are thankful for how well she is currently doing.

Ezra and I have consulted with many different centers regarding Emanuela’s postnatal care. We were unable to connect with a physician in the Palo Alto area to perform the amnioinfusions she requires. Due to this barrier, Stanford is no longer an option for her postnatal care.

We have decided to continue Emanuela’s postnatal care at the University of Minnesota, providing we are able to deliver there or transfer. There are several factors that made Minnesota stand out:

1. Minnesota has successfully dialyzed neonates with low birthweights, the lowest to date weighing 1400 g (~3 .1 lbs). Other regional centers have a cut-off of 2000 g (~4.4 lbs). This means they won’t consider dialysis unless she meets the 2000 g threshold, and she will not survive if she is born weighing less than 2000 g. For reference, Emanuela is currently 31 weeks and measuring roughly 1000 g (~2.2 lbs). Most babies at 31 weeks weigh approximately 1450 g (~3.2 lbs). We anticipate she will have a low birth weight, regardless of when she comes. A team with experience in dialyzing low-birth weight babies is crucial for Emanuela, especially since she has no innate kidney function.
2. Minnesota cares for 2-3 babies/year with long-term dialysis needs, as opposed to <1 baby/year at other regional centers. From our research, they are the most experienced regional center at performing long-term dialysis in babies.
3. Minnesota has an Aquadex machine, which can filter her blood if complications arise from peritoneal dialysis or if she is too small for catheter placement at birth. The other centers in the area do not have an Aquadex machine, so there would be no back-up plan should complications arise from peritoneal dialysis.

In addition to the points listed above, Minnesota is within driving distance from Omaha, where we are currently receiving amnioinfusions. Plan A is for her to tolerate the amnioinfusions until about 37 weeks, at which point we will cease infusions and transfer up to Minnesota for delivery and postnatal care.

If complications arise and she is born prior to 37 weeks, we will request a transfer to Minnesota. If her respiratory status is good, she should be able to tolerate a transfer to Minnesota.

If she is born prior to 37 weeks and is in poor respiratory status, we will continue her care in Omaha. Transferring with poor respiratory status would be too dangerous.

We are thankful we have a plan going forward. We do not know what the future holds for us, but we find solace in a God who is sovereign over all things.

“For you created my inmost being; you knit me together in my mother’s womb. I praise you because I am fearfully and wonderfully made; your works are wonderful, I know that full well.”

Psalm 139:13-14

It’s been a minute since I’ve updated everyone! I’ll try to hit the salient points.

1. We had several appointments last Thursday in Madison. After an echo, the pediatric cardiologist informed us that she was able to see the pulmonary veins, which she was unable to visualize at the last echo at 21 weeks. Additionally, Emanuela has no significant cardiac anomalies! This is a huge answer to prayer! This doesn’t definitively rule out cardiac issues as certain abnormalities may present after birth, but it is the best news we can hear about her heart at this point. Praise the Lord!
2. We met with several pediatric nephrologists regionally via telemedicine visits this week. Out of the centers we have consulted with, Stanford and the University of Minnesota appear to have the most experience in dialyzing babies for an extended period of time. Experience is an important buffer against errors; small errors in dialysis treatment for babies can lead to infections and other complications. Additionally, the University of Minnesota and Stanford have a machine that could be used to give her hemodialysis should a complication arise from peritoneal dialysis. From our understanding, the other centers we are considering do not currently have that equipment.
3. It has become evident in our many consultations with a variety of physicians that Emanuela will receive her dialysis treatment in the location where she is delivered. She will likely be delivered where we are receiving the amnioinfusions, as labor tends to be a spontaneous process. Please pray that we are able to locate a provider near Stanford or the University of Minnesota to administer the amnioinfusions. We are very thankful for the wonderful provider we have been working with in Omaha, but we would like to transition to a provider that is close to a preferred center for postnatal care (Palo Alto or Minneapolis).
4. The appeals process for insurance is currently underway. So far, our amnioinfusion treatment coverage has been denied. Additionally, we anticipate issues with insurance surrounding delivery and postnatal care as we will very likely be out of state for these pieces of the health care puzzle. We are thankful that we have some members of Congress supporting our case, in addition to a few physicians that we are working with. Please pray for Ezra and I as we build a case for coverage. Also please pray for those reviewing our case, that their hearts will be softened and that they will feel compelled to grant insurance coverage.
5. Emanuela is measuring about 2 weeks behind her gestational age. We are thankful that she continues to grow from week to week, but she is significantly behind her in-utero peers. This could complicate dialysis as weight matters more than gestational age for catheter placement. Please pray that she continues to grow and that her rate of growth dramatically increases. To aid in this goal, I have stopped my nearly 6 year commitment to veganism. A research study found an association between maternal plant-based diets and low infant birth weight. For our baby, every gram matters, so I will eat meat and cheese if that is what it takes for her to gain weight. This dietary change was a big shift for me. I am thankful that I have peace about this decision and feel it is what is best for Emanuela at this time.
6. We would like to thank everyone who is following our case and praying for Emanuela. Ezra and I have already seen many answers to prayer along this journey; we believe in the power of our God. Please continue to pray for us and share our prayer requests with prayerful folks in your social circles.
7. As an aside, please pray for me as I prepare for a medical school exam next week. I have had many things to tend to outside of school, so this may be a challenging exam for me.

A lot has happened in the last few weeks; we are thankful that God continues to provide. I’d like to close this post with a passage that was recently shared with me:

“Come to me, all you who are weary and burdened, and I will give you rest. Take my yoke upon you and learn from me, for I am gentle and humble in heart, and you will find rest for your souls. For my yoke is easy and my burden is light.” ~Matthew 11:28-30

Stay safe & God bless.

-R

After much prayer and deliberation, Ezra and I have finally agreed on a name for our sweet daughter: Emanuela Galit Menon.

Emanuela: Hebrew in origin; meaning, “God with us”

Galit: Hebrew in origin; meaning, “fountain”

We enjoy calling her by her nickname, “Emy G.” (Emy G sounds spunky to me; I’m sure many people will shorten it further to “Emy.”) Of course as time passes, many more nicknames will emerge from her given name.

We wanted her name to be Hebrew in origin, so that it is clear that we are referring to the God of the Bible. Originally, we wanted her name to mean, “God’s miracle” or “miracle of God.” Ezra and I couldn’t find a name that we agreed on with that meaning.

“God with us” is a fitting meaning for our baby girl’s name, as we feel God has shown his provision and grace through this medical journey. We believe that God has His hand on our little one; she is dowsed in pray and we are grateful for His guidance on this path.

Ezra was drawn to the name Galit for our little one. He believes that the name is fitting in three regards:

1. She has the fountain of life within her– God’s salvation
2. She will be a fountain of life, a lively child
3. The amnioinfusions serve as a fountain of life for her in utero in the literal sense as she needs them to survive

We thank God for Emanuela. Please continue to pray for her as we decide where to seek postnatal care for her dialysis treatment. Please pray for guidance as we make these critical decisions.

Today, we consulted with several physicians regarding baby girl’s postnatal care. There are nuances in baby’s care that each physician approached a bit differently; this is the art of medicine. We are grateful for each opinion and word of guidance.

We have a definitive answer from one institution that is willing to take on baby’s case postnatally with dialysis as a bridge to transplant. This is the first confirmation of treatment to transplant we received after her diagnosis of 22q11.2 deletion syndrome. We are relieved to know she has a treatment option with the goal of her living a long and happy life. The answer could have gone the other way, which would have been devastating.

Please give thanks to the Lord for this door that is open. Please also pray for me and Ezra to make the best decision in terms of next-steps for baby girl. We have not made a definitive decision on where baby will receive postnatal care. Please pray for this decision to become apparent to us in the coming weeks.

We met with a physician at Mayo on Monday. We were hoping to leave the appointment with some clarity surrounding baby’s birth plan and NICU care. Instead, we were met with a barrier. It was relayed to us that baby may not be eligible for kidney transplant with 22q11.2DS. We never heard this information prior to the consult. It felt the door for baby was closing. We were dismayed by the potential of her disorder excluding her from consideration for kidney transplant. Ezra scoured the Internet for information regarding 22q and bilateral renal agenesis. He found a pediatric nephrologist who is familiar with 22q who was willing to share her insight on the matter. She agreed to consult with us on Wednesday.

After the consult at Mayo, many tears were shed. Turmoil consumed me. In the last three weeks since baby’s diagnosis of BRA, I’ve learned that nothing is certain. Tuesday was spent in Omaha with family. While I tried to engage with my studies, I was constantly interrupted by phone calls from physicians, nurses, and other entities that are connected to our case. By the end of the evening, I couldn’t wait for my head to hit the pillow.

Wednesday morning was baby’s third infusion. It was well tolerated. During the procedure, we asked the physician if 22q would prevent baby girl from receiving a kidney transplant. He reassured us that he could not think of a reason why 22q would be a contraindication for kidney transplant. He also elaborated by describing operations performed on babies with more severe genetic disorders than 22q. We left the appointment with optimism.

Ezra and I consulted with a pediatric nephrologist from New York just an hour after the infusion. We told her our story and she gave us very useful information. She reassured us that having 22q would not be a contraindication for kidney transplant. In fact, she said that it would be unethical for a practitioner to deny her a kidney transplant based on the genetic diagnosis of 22q. Yet again, after we thought baby would not qualify for life-saving treatment, we learned that there is no current reason for her to be disqualified.

We made a handful of other connections this week with people familiar with 22q, BRA, and other issues pertinent to baby’s health. The amount of support we have received in the form of advice from all corners of the country is truly remarkable. For every roadblock we have faced, we are swiftly met with a suitable alternative route. God continues to provide.

The plan for right now is to continue weekly amnioinfusions in Omaha. Thankfully, Ezra’s extended family has agreed to graciously host us for the duration of the infusions. We are not certain where we will deliver or where we will be for dialysis and transplant. Please pray for guidance surrounding baby’s postnatal care and for the right doors to open. Please pray for the doctors, nurses, and other healthcare workers who will be a part of baby’s care team. Of course, please continue to pray over baby’s lungs and development in utero, and that she is not born prematurely. Thank you for your continued prayer support during this time.

This week has been a lot. On Tuesday we received the genetic results which came back with a microdeletion that is compatible with life but excludes baby from the Mayo clinical trial. On Wednesday morning we consulted with UW and were told no one would consider giving us infusions. This was our lowest point. How could we carry on knowing her genetics are compatible with life, but she will die after birth without infusions?

On Wednesday afternoon, Ezra called a few physicians we heard about through family. We consulted with a physician out of Omaha, NE who agreed with us that although a 22q11.2 deletion will create more hurdles for her, most children with the deletion live long and happy lives. We need to give her the chance to make it past delivery and continue the infusions. He agreed to continue her infusions weekly and got us in his schedule the next day. We are so grateful to this physician, who considered her holistically and agreed that it is a “heroic” measure, but not futile. We packed up Wednesday evening and made the 6+ hour drive to Omaha.

On Thursday morning we received the second infusion. For the first time, we were able to see lung tissue on ultrasound. We are so grateful for the opportunity to give her a chance at life. We know she still has many obstacles to face, but we are happy the genetics result is compatible with life AND we have a stable option for infusions going forward.

On Monday, we are meeting with a physician at Mayo Clinic. We are excluded from the study, but I am hopeful baby can still be delivered at Mayo and receive care from their neonatology team. Another hope I have is that Mayo will continue her infusions as well, but not as part of the study. This is not likely, but we would prefer this for several reasons; one being continuity of care and another being the logistics of travel during a pandemic.

There were many ups and downs this week. It’s been a lot to process. We are physically and emotionally drained. We are grateful for family and friends who support us and for a God who is steadfast. Please pray that the infusions continue to go well and that I don’t go into early labor. She won’t be considered viable by neonatologists until around 32 weeks. Please pray that baby continues to grow and that her lungs develop. We have hope.

Overall, the procedure went well. Baby girl had a long day but seems very happy to have the extra space after the amnioinfusion.

We had another structural ultrasound after the procedure which appreciated clubbed feet. This is a common feature of babies with no amniotic fluid as they don’t have room to grow properly. It could also indicate an underlying genetic disorder, but we won’t know which etiology to contribute this finding to until her genetic test results come back. Her stomach was not visible on ultrasound. To visualize the stomach on ultrasound, she needs to swallow fluid so the stomach pocket can expand. Time will tell if her stomach is present or not. Other than those two minor findings, she looks beautiful and seems to be otherwise normal (aside from the lack of kidneys).

Our team at Mayo Clinic was wonderful and very responsive after I had an allergic reaction to some of the medications I was given during the procedure. We are so grateful to have such a supportive, excellent team working on our case.

Please pray that her genetic test results come back normal so she can continue with the infusions. Also please pray that she swallows the fluid so her lungs develop. Thank you for your support and encouragement during this time.

Hello, reader! Whether you are a family member, friend, friend of a friend, or just stumbled upon this page, we are grateful for your interest in our story. This blog serves many purposes: to share medical updates, to disseminate prayer requests, and to document moments along our baby girl’s journey after her diagnosis of bilateral renal agenesis. Some posts will be more clinical while others will be narrative in nature. Ezra and I find writing to be a cathartic exercise as we rapidly process new information regarding our daughter’s health.

Please share this page with anyone you think would find it useful, or to anyone who would like to pray for us while we navigate this journey. Please note this is a page run by expectant parents; we may not always have the time to properly edit a post before sharing it, hence, the product is an unfiltered look into our story. Thanks again for being here. — R

Ezra and I are expecting a baby girl but learned of some unexpected health complications last week at a routine 20 week ultrasound. Our baby girl was diagnosed with bilateral renal agenesis (BRA), which means she is developing without kidneys. This was a shock to us.

Historically, BRA has been considered a universally fatal diagnosis. It is diagnosed at the 20 week ultrasound after low amniotic fluid is identified and no kidneys are visualized on ultrasound. In our case, the diagnosis was confirmed with a follow up fetal MRI.

In the second trimester, the majority of the amniotic fluid in the placenta is produced and excreted by the baby’s kidneys and urinary system. Amniotic fluid plays a critical role in lung development. Babies in utero practice breathing and develop their lungs by swallowing and breathing in amniotic fluid. Without amniotic fluid, the lung tissue does not develop. Due to this, babies with BRA pass away immediately following birth as their lungs cannot function.

As we learned of our options moving forward, we decided to enroll in a clinical trial at Mayo Clinic in Rochester, MN. The intervention we will receive is serial amnioinfusions into the placenta. The infusions are meant to mimic amniotic fluid, with the goal of developing baby’s lungs. If all goes well, she will survive delivery and receive dialysis to filter her blood. She will need to receive dialysis until she is big enough to receive a kidney transplant. We expect the earliest she will be able to receive a transplant is age 2.

There are several points along this path where things can go wrong. Our baby girl needs a lot of prayer along this journey. Our first prayer request is that her genetic testing comes back normal. If she does not have normal genetics, she will be excluded from the study, thereby stopping infusions and altering our path to a palliative care route. Even if she has a genetic disorder that is compatible with life, she will be excluded from the study. Please pray that she passes this first test and has a normal genetic test result.

As I write this, the first infusion will be tomorrow. Please pray for the physicians and nurses who are performing the procedure—that they have no complications during the surgery. Please pray for me as I recover from the infusion. Please pray for baby girl, that she tolerates the infusion and that her lungs develop as a result.

Baby’s genetic sample will be taken tomorrow during the procedure. We will learn of the results from the genetic testing in 1-2 weeks. We are hopeful that she will have normal genetics and will be able to continue with the study. Again, please pray that she has normal genetics and can continue receiving infusions as planned.

Thank you for considering our story and for your thoughtful prayers. Please share this prayer request with others. We believe in the power of prayer and the power of our God. We started this blog to document this journey. We will post prayer requests and medical updates on the blog as we navigate this path. Thank you again for taking the time to learn about our baby girl’s story and for including her in your prayers.