It took my husband and me months to piece together the past two years, but we are grateful for being on the other side, looking back, and seeing the resilience, perseverance, and love that endured so much.

July 2020 to February 1st, 2021

Our story started like any other young couple wanting to begin a family. We got a positive test, we rejoiced, we told family and friends, and we all celebrated together as we began to plan for our new addition. Early on, the pregnancy was not complicated. From a medical standpoint, everything was developing as expected. Isaac was growing, and his heartbeat was strong. Yes, we had a few hiccups, but nothing that many couples don’t face. 9 times out 10, it’s all false positive testing as the medical team dots their Is and crosses their Ts. Unfortunately, it would turn out that we were the 1 in 10. But what was wrong would remain a mystery for a while.

It wasn’t until later in the pregnancy that Isaac was not at the correct growth rate, and they wanted to watch him closely by having me go to appointments two times a week to be monitored. From those appointments, they noticed that Isaacs’s movements were decreasing in intensity and frequency. It was then on February 1st, a regular Monday, when I went into my regularly scheduled appointment after work, only to be told by the high-risk OB doctor that I needed to get to labor and delivery immediately as “you may be having this baby tonight.” We quickly got to the hospital (which is where we work), and by the time Alan had parked the car and gotten back, they were consenting me for an emergency C-section. Less than an hour later, Isaac was born and was immediately admitted to the NICU.

February 1st to May 3rd, 2021

Isaac was admitted to the NICU for two reasons: he was 6.5 weeks premature and Isaac’s strength and movements were abnormally low and weak. When they say that “a child being admitted to the NICU is a marathon, not a race,” they are not joking. For days the doctors felt as though “he is a preemie baby, so we need to give him time.” However, time turned from days to weeks to months. And with time (a word that has such meaning now), there were still no improvements in his breathing, eating, and movements. Isaac was six days old when the medical team decided to consult with Genetics.

Jenae and Alan Lombardo with their son, Isaac - Pregnancy After a Loss Due to a Rare Diagnosis

Author’s Personal Collection/Jenae Lombard

Through very in-depth testing on both myself, Alan, and Isaac, we learned that Isaac had an extremely rare condition, due to a mutation in a gene termed GMPPB. You may be thinking that now that there was an answer (GMPPB mutation), we would’ve begun on the path toward treatment and getting Isaac strong. But that was not the case. The doctors had found the likely cause, but little is known about this condition, and thus what to expect and how to treat it remained a mystery.

Like so many families who have walked the road of rare childhood disorders before us, we learned that as you go through the journey, it can be blinding and unpredictable. Many families have similar stories with no diagnosis at all. As much as we wanted answers, through the entire 7 months 22 days of Isaacs life, we received only possibilities. The response we learned and had to accept was that the doctors would become a broken record saying, “Isaac is going to tell his own story,” because they simply didn’t know what to do. No one did, and still, no one does for now.

While they didn’t know how to treat his condition, they did know how to treat his symptoms, which is all we could hope for. They recommended Isaac undergo a tracheostomy and g-tube placement to support his breathing and feeding/growing because this was the way to get him home. And there was nothing we, and the team, wanted more than to get our sweet boy home.

The surgeries were successful, and after weeks of recovery for Isaac, and training for me and Alan, Isaac was ready to come home! We were taught by hospital staff how to be respiratory therapists, speech therapists, physical therapists, occupational therapists, and how to change and manage a trach and g-tube while learning sign language and many other things. It was a humbling experience as our eyes were opened to the world of having a child with a disability. A world in which we have been blessed in learning is a beautiful world.

Jenae and Alan Lombardo with their son, Isaac - Pregnancy After a Loss Due to a Rare Diagnosis

Author’s Personal Collection/Jenae Lombard

May 3rd to August 4th, 2021

Because so little was known about Isaac’s condition, no one could tell us what to expect. It felt like a real possibility that Isaac could have turned a corner and progressed after leaving the hospital, and in fact, May and June were our best months with Isaac. He was opening his eyes more, his development was progressing, and he was home. We were enjoying singing, reading, dancing, playing, and just being with him. The grandparents had their grandson, the aunts and uncles had their nephew, and as exhausting and nerve-racking as it was, we tried hard not to see the medical equipment in the home. We chose not to see the oxygen monitor, the ventilator, and the suction machine as interference in loving on our sweet boy or feeling sorry for Isaac. Because Isaac did not feel sorry for himself. We saw Isaac. Beautiful, chubby, wise, strong, resilient Isaac. And although we still experienced several hospital admissions during this time, we were enjoying the time with our son and were so proud of his little fighting spirit.

Unfortunately, one of the symptoms that coincides with Isaacs’s rare condition is a seizure disorder generally referred to as epilepsy. Early on, Isaac’s seizures were mild and well controlled by medication. But in July, the seizures began to progress and take a form that could not be controlled at home. We had to bring him to the ER on multiple occasions, and despite wonderful care by some of the best neurologists you could ask for, the seizures kept getting worse. We woke up one morning and finally decided we needed to go back to the hospital for Isaac to be admitted. What we were doing wasn’t working, and we needed help.

August 7th to September 22nd, 2021

Once back in the hospital, things slowly began to get worse. With Alan’s scientific background, he researched and studied to understand Isaac’s rare condition, which was still not clear. We still had no concrete answers, the seizures were not responding to treatment, and we had no understanding of what to do next. Fed up, Alan put his skills to work, not in the lab, but towards saving our son’s life. He consulted with medical researchers around the world, spent hours reading papers, and made a PowerPoint presentation for the medical team to teach them what Isaac truly had, a congenital disorder of glycosylation.

And through it all, we prayed, prayed for understanding, for favor, and for directions in how to navigate this journey. The Davis medical team respected Alan as a scientist and both of us as colleagues (we both work there, too), and they took Alan’s research seriously. In fact, he was able to find a treatment that was studied on other children with similar conditions, and because of our steadfast commitment to Isaac and their respect for Alan’s expertise, they implemented the treatment Alan’s research had led to.

Unfortunately, the treatment did not show the progress that we needed. At this point, Isaac was having 20-30 seizures a day, and it was largely thought by the team that the condition had progressed too far. The seizures needed to be stopped with high doses of powerful drugs, which also resulted in placing Isaac in a deep sleep. His development was regressing, and after many medical team meetings, we realized with grace and compassion that Isaac had fought long and hard, and it was time for him to rest.

Despite the experimental treatment Alan found not saving Isaac’s life, we hope that what we started will go on to make an impact for other children. There are so many unknowns, and it is possible it may have been effective at an early stage. The fact is that science and medicine know too little about this condition and several other rare conditions. We need more research, and we need new approaches. The lead geneticist at UC Davis, Dr. Martin made it very clear that what Alan started may lead to new methods to treat this disorder. We hope that Isaac’s story leads to breakthroughs in rare conditions.

On September 17th at 3:00 pm, Alan and I sat with the medical team, who each went around the table to express their genuine thoughts and recommendations to support Isaac on the journey of “compassionate withdrawal.” I remember the way the room smelled, the exact placing of the tissue boxes, the exact faces of who was in the room, the exact moments Alan grabbed my hand, but out of all those things, I distinctly remember hearing the words, “We support the decision to withdraw care, as Isaacs quality of life is lessening.”

Shortly, after that meeting, our parents and siblings made immediate arrangements to come and see Isaac for the last time. The hospital staff was gracious enough to support our family in all of this and also arranged for us to bring him outside one last time to have Isaac dedicated to the Lord the day before he was removed from support. There, we were unexpectedly greeted with love and support from family, friends, coworkers, and all of the medical staff that had a hand in his care and who had come to know and learn of Isaac and our family. We were blown away by their presence and support. The team at Davis was truly incredible throughout all of this.

The next morning, Isaac was brought to his final hospital room for the removal of his support. All through the walk on our way from the PICU to this destination, the hospital’s staff lined the halls to honor our boy, our family, our decision to donate organs, and the impact he had made and would continue to make. It was overwhelming, to say the least, an experience that is difficult to put into words.

On September 22nd, at 9:47 am, in my arms, held by Alan, and surrounded by his grandparents, Isaac peacefully went to be with the Lord.

Today, We do not and probably never will understand the meaning behind this, but the one thing we learned is this…

There are promises in scripture that talk about “God will never leave you nor forsake you.” We didn’t truly know what that meant until now. God doesn’t promise us that we are going to have healthy children. He doesn’t promise us that our marriage is going to be perfect or our jobs will be consistent and fulfilling. He doesn’t even promise us that we’re going to have a roof over our heads. But, He does promise us that He will be with us through the pain of this life, and that while this life will have pain, we will not be alone. He will be right there with us. And in those moments where I yearned to hear God’s voice, and sometimes didn’t, I was reminded that in those moments, God may have been sitting right there weeping with us. Despite at times feeling “abandoned” or “forgotten” by God, we leaned in. We pressed into God, and we continue to dig into trusting that there is purpose in all of this.

I’m confident that Isaac’s short life must mean something, which is not to say that I feel that God did this to Isaac, but that He allowed it to happen because somehow, in some way, others would be blessed through his story. Isaac is a true testimony, and we have learned that many people in the hospital and through word of mouth have expressed the impact his journey has had on them. If through all of this, we have been able to save and change lives in a way that has ministered and brought others’ faith closer to the Lord or at least planted a seed in healing discord in whatever way that may be, then God we are honored by your trust and faith in taking us through this journey and that we continue to make that impact moving forward.

Our geneticist spoke with us after Isaacs’s passing, encouraging us to try again, if that was truly in our hearts to grow our family.

We were informed that there was a 1 in 4 chance every time we conceived that the baby could have the GMPPB Disorder. I was scared. Every possible question on ethics, personal beliefs, emotion, marriage, and strength, crossed my mind. But, internal peace always won and consumed me every time I worried, and that gave me an understanding that we could do this.

Jenae and Alan Lombardo pregnant with their rainbow baby - Pregnancy After a Loss Due to a Rare Diagnosis

Author’s Personal Collection/Jenae Lombard

Eight months after Isaacs’s passing, I received a positive pregnancy test. Immediately, the OB/fetal care and treatment center held our hands through the next nine months. In order to ensure our baby girl did not have the gene GMPPB that Isaac had, they had me undergo a Chorionic villus sampling (CVS), which is a prenatal test. It’s used to diagnose certain birth defects and genetic abnormalities in the fetus. You cannot receive this test until about 8-12 weeks of gestation, and following the test, it can take 4-6 weeks for the results. So least to say, the first and second trimesters were more than anxiety provoking. But our faith and strength stood firm.

Jenae and Alan Lombardo with their rainbow baby, Raegan - Pregnancy After a Loss Due to a Rare Diagnosis

Author’s Personal Collection/Jenae Lombard

On January 6, 2023, our sweet girl Raegan Stacy Lombard was born via C-section.

We were blessed with a rainbow baby. Raegan is the hope from the storm, but Isaac was the driving force, and we are forever grateful to have this journey and story to share as a testimony of faith, perseverance, and love.

More on this topic:

Share this story!