Cash’s Story as Told by his Mom, Kara for Rare Disease Day 2021

February 28th is Rare Disease Day, so I think it is finally time to share Cash's Story. I wrote the majority of this down when Cash was 7 weeks old, but just now am I able to mentally share his journey and finally have a little time to do so. Ever since we were discharged from the NICU, I've really been wanting to somewhat journal our experience for my own memories and reflection, but after doing so, I thought I would post for anyone who is interested in Cash's story since he has had so many prayer warriors and amazing support from more people than we would've ever imagined. I really wish this was something I could've kept up with during our hospital stays but so that everything was fresh, but better late than never and its honestly probably better now that I can better put my emotions to the side.

The day we had Cash, I couldn't wait to find out if he was a boy or girl and was just so excited the day had finally come as with both girls, I found out the gender around 16 weeks because I couldn't even hold out until the 20 week ultrasound. My water broke at 4am and I immediately began to have contractions. I was so thrilled that I wouldn't have to be induced but I was also very shocked that I was 2 weeks early since I was on time with the girls.

Driving to the hospital at 5am, I remember telling Chris if all went well, I would love to be home back with the girls the next day and that I didn't want to stay at the hospital for 2 nights. We were driving along just talking about which girl name we were going to pick because we still hadn't chosen our final one at this point and what we may want to eat after having our baby. We would've never expected all of this to happen just hours later.

The labor and delivery part went pretty normal I would say with the exception of me having really low blood pressure (like 60/40 almost the entire day) which made me have a severe headache and feel pretty lightheaded, nauseous, dizzy and weak, but honestly outside of that, all went really well. I had him around 5pm that same day on August 7th, 2020. He was just 2 weeks early. All of our ultrasounds done during pregnancy and even the ultrasound done during labor showed that all was normal and he was completely healthy. We only had an extra one during labor due to the suspicion that he had flipped and become breach, but he was all good in the head down position and ready to go!

I had a normal pregnancy and was never considered high risk. Yes, all the ultrasounds were normal and we didn't do extra testing. We always declined the extra testing with all three pregnancies because we both felt like God was giving us this child and it was ours no matter what.

After waiting 9 months to find out if we were having a son or daughter, his grand entrance definitely wasn't the one we were expecting with an excited announcement of "it's a girl or it's a boy!" Honestly, i can't even describe the sound/feeling the room when he came out. It was so eerily silent and I knew right away something wasn't right without even seeing him and without anyone saying anything at this point. I will never forget how scared I was. I don't even really remember anyone saying he was a boy. Chris later told me that he had said it, but gender was so far from my mind at this point. I just wanted to make sure my BABY was ok.

As soon as they handed him to me, it was completely clear that something wasn't right and he was immediately taken out of my arms and taken away and other staff began to rush in. I was so scared and remember asking multiple times "is he ok??." No one seemed to want to answer that question. Then several more nurses and doctors came in including a pediatrician who happened to be there visiting someone and she asked permission to take pictures and to send them to Children's hospital so of course we agreed. We wanted to know what was wrong and what he needed for help. No one in his room seemed to know what was wrong with him and I was laying there feeling so helpless. I just wanted an answer and I wanted to know he was going to be ok.

Within minutes they said he was going to be transported by ambulance to Children's Hospital. At this point, I finally asked one more time, what they thought it was and it was a big blur but I believe the pediatrician told me they weren’t sure, but possibly epidermolysis bullosa or ichthyosis. I had never even heard of either of these medical diagnoses. But, I soon learned that these are both skin conditions but can have related complications. There are many different types with different severities. We had never heard of either of these diagnoses even with 8 years of school and medical background knowledge. Below are pictures of him at birth. I find it is hard to look at them because he just looks like he is in pain. It was just scary to see my baby, well any baby, in this condition. To me, his skin looked like he had bad burns all over his body.

His skin was literally peeling off immediately after birth and he was so red and swollen. His skin was so tight that it pulled his eyes open to where they were stuck open and his eyelids were inside out (medical term: ectropion). His ears were so swollen and stuck to the side of his face. His mouth was also pulled completely open by his tight skin on his face to where he was unable to close it or suck to eat. His hands and feet were contracted into flexion and he was unable to move them. His nostrils were filled in with skin and he had a distinct white discoloring around his mouth and nose.

We ended up learning that this was from the collodion membrane he was born with. He was determined to be a "collodion baby." A collodion membrane is described as a tight , shiny membrane that resembles plastic wrap . His fingers and toes literally looked like tight sausages (yes, I know that is a disturbing way to describe a baby, but it is so accurate). I had never seen an image like this in my entire life.

Before leaving for Children's hospital, they tried to do an arterial line through his belly button and umbilical cord but they were unsuccessful. There was a lot of blood that couldn't be cleaned because his skin was so fragile. So, this made the poor guy look even more in pain.

The hospital recommended I stay at least overnight for healing and monitoring while Cash was transported to the NICU, but NO WAY was I going to let them take my baby and me stay at the hospital. I was going to be there for him no matter what, it was not even a question in my mind. Since I had an epidural, they said I had to show that i could stand before they would let me leave. I really don't remember how, but I made myself stand and was out the door in a car in less than an hour after giving birth. I honestly had completely forgotten that I has just given birth. Unfortunately they didn’t let us go with Cash in the ambulance, which killed me, but we followed the ambulance downtown to Children's. That one hour drive was honestly the longest drive of my life...it seemed to last an eternity, without knowing anything about his condition in the ambulance and it was the worst feeling not being able to be with my baby.

I had so many thoughts going through my mind and I was trying to Google the two possible diagnoses they had given us. Of course, researching on your own is never a good idea because you read many scary things online. This is so sad to even think and say but

I was just praying the entire drive that he was going to make it and that we would soon be seeing him. When we arrived, I asked the staff how he did on the drive and they told me his oxygen had dropped into the 60s and they had to use a bag valve mask for rescue breathing, which scared me to death. I hated that I wasn't there with him, but was so thankful he was there now at the hospital to get the proper care and to hopefully get some answers. We were immediately taken up to the NICU to a small private waiting room where we still couldn't see Cash. They said we weren't allowed back yet until he was settled into his room.

It was gut wrenching sitting in the small waiting room with so many thoughts going on in my mind. It was less than two hours in there but again it felt like an eternity. In that time, a doctor came in to speak with us and all he could say was they were getting him set up in his room and that they would come back shortly to get us when we could finally go see him. He would be evaluated by dermatology that next day to determine a diagnosis. At this time, this MD said it was looking more like the epidermolysis bullosa (EB) diagnosis vs ichthyosis based on what he could tell.

As we were sitting in there waiting, my head was spinning with so many thoughts. When I was looking some of it up, it was saying that some children pass in their childhood years or within the first few hours/days after birth and I was seeing heartbreaking pictures of babies and children and reading that these conditions can affect more than just the skin. I was reading that often other life sustaining organs and body structures including lungs and heart can be affected. I was seeing images of children and babies that looked so painful that it was turning my stomach imagining a child having to go through that and enduring it for life. I couldn't wrap my mind around the idea of this being my son or of potentially losing my child as a child. I was already thinking how could I ever say goodbye, how could I ever emotionally handle all of this, how would I explain this to the girls who think we should be coming home tomorrow with a new, healthy baby, how would we ever get through this, I was having unexplained guilt with the thought of the girls lives are going to be changed forever, how will we all emotionally deal with all of this? These are feelings, thoughts, potential discussions I never ever dreamt of having a couple hours after giving birth.

At that moment, everything else in life seemed so minimal. Things I was worried about leading up to Cash's birth now seemed so ridiculous and silly. I was worried about which outfit I was going to bring him home from the hospital in and what the girls would be wearing for their pics when meeting him for the first time and this quickly shifted to when or even if we were going to be able to bring him home.

This is when I had the realization that life can be so very fragile and that life is unpredictable and can change in the matter of minutes. I remember Chris and I sitting in the waiting room crying and thinking and saying of all the things we thought we cared and worried about and no longer did. Those are just things and things only. You start to really put everything in perspective and better prioritize your life in situations like this. Sometimes it takes unfortunate things to happen to make you realize how important it is to appreciate life, to appreciate health, to appreciate all the people and all the good and positive things in your life. I think it is very easy to take life and your health for granted. It also becomes easy to get caught up in material things, possessions, concerns and worries that are so meaningless when looking back. This experience humbled us and gave me overall clarity and it was only two hours after giving birth.

During our NICU stay, every day we walked by this same waiting room. All those feelings and thoughts immediately returned and literally made me sick to my stomach. I had a very hard time just looking at this waiting room. When we finally got taken back to his room, I was just in shock. He was in this high humidity completely enclosed incubator with so many lines, tubes, and his head was under this weird contraption of an oxygen hood. They told us they had never had to use one. He looked so helpless and fragile and his skin looked so painful. I could not believe that was our poor little baby. We weren't able to hold him or touch him. I felt so helpless as a mom not being able to comfort and console him while in a small incubator. I couldn't help but wonder if he was in pain. There were little holes in the isolette that we eventually were able to put our hands through to touch him, but for a while all we could do was look at him.

You definitely take for granted not being able to hold and console your baby. I immediately took back not looking forward to the sleepless nights of crying and feeding during the newborn phase, I regretted even remotely complaining of the lack of sleep or how tired I felt with the girls. At this time we were thinking wow, we thought getting through Karoline's colic was tough and Charlotte's recurrent high fevers, but this was nothing.

As the days in the NICU went on, days felt like weeks and each week felt like a month. We really felt soooo sorry for all those families who were there for months and some even years on the other floors. My heart broke for these families and their babies and children.

We couldn't even begin to imagine being there any longer than we were. Each day was so emotionally draining.

I took pages and pages of notes to try to keep up with all the teams and specialists that were seeing Cash. It was a lot to keep up with. I also always prepared a list of questions each day to ask at rounds. Chris and I never missed an appointment and attended rounds every single morning. We also did not leave his side and stayed every night with him on a small pull out chair. Chris and I have never slept so close in our lives .

We couldn't believe how many students, doctors, nurses came in to see him all day every day. Honestly, we both felt kind of like a freak show as people were literally coming in just for learning, research, pictures etc., his case was so rare in this hospital. People came in all the time literally just to look at him. We agreed to medical research photos in which a photographer came every day and took pics of Cash for medical research and we hope that one day this will be helpful for other families and babies who may go through our similar situation. It was so scary and we hope this will give clarity and hope to them to be able to see what to expect and for medical professionals to learn.

In the beginning of his stay we were given the most severe prognosis by the geneticist. He didn't even say it could be or here are some possibilities. He was certain that Cash had the most severe case just by looking at him once. The next few days I spent researching this and was so discouraged by what I was reading. I was crushed and again had all those feelings I had early on while waiting in the waiting room upon our arrival. I was reading things like with severe forms, many infants don't survive past a few days or some will die in their childhood years. This is why you should never Google a diagnosis or rely only on the internet for information.

Then we finally met with the dermatology team again and they said they weren't sure on his type but they were pretty certain it was not the most severe form, but they were able to diagnose him clinically with ichthyosis vs EB. They were much more thoughtful about their diagnosis suspicion and how they presented it to us. They seemed to have a lot more knowledge, so we were encouraged more by this team and their potential medical diagnosis vs the geneticist. Later in the week, the geneticist came in and said he had done more research and he believes he may have been wrong. Wow, no big deal, right? It was half of our NICU stay before we could finally hold our boy outside of the enclosed incubator. Until this time, we had to reach our hand in the tiny cut outs to touch him. Holding him was the greatest day!! It felt so good to hold him in my arms. It was the best feeling and felt like I had waited an eternity.

What we did learn is that in the NICU and with his condition, you cherish way different milestones than the typical newborn. We were so excited the day he was able to blink and just finally briefly close his eyes. It was sad watching him sleep with his eyes open and we were needing to do constant eye drops every couple of hours 24/7 to make sure his eyes stayed properly lubricated. He didn't form any corneal ulcers or vision deficits as a result of this care.

We celebrated really big when he could close his mouth for the first time as this meant he could try to bottle feed and nurse versus the feeding tube. We celebrated when they removed his arterial line from his navel because he pulled at this everyday which was very dangerous. This was complicated even further by not being able to have any adhesives the entire time he was in there due to his fragile, peeling skin and collodion membrane. The arterial line coming out also meant we could get him out of the incubator and finally hold him! We were also so excited when his labs looked better and he was weaned from the humidity. This meant he could come out of the incubator and be in normal air. We were so happy when he weaned from the oxygen hood, then later the oxygen via nasal cannula (now, he is back on oxygen but that is a whole other story). I also counted being allowed to touch him to change his first diaper as a huge milestone. It was all feeling like normal baby stuff now.

We were so excited when our little guy could put on clothes for the first time. Up until this, he couldn't have anything touching his skin. His diapers and clothes had to be completely saturated in Aquaphor but we didn’t care, he was in clothes. We also celebrated when he finally could move his feet and hands a bit. All of this movement with the mouth, eyes, and extremities meant his skin was loosening up a bit and he was working on shedding this membrane. Cash was also born with his nostrils enclosed by skin so with the help of a nurse, Chris literally helped create his nostrils, which was another very exciting moment. Yes, this seems crazy to even write. All of these things are often taken for granted with the birth of a healthy baby .

With this progress, it was the time that it really dawned on me that I had a little BOY!! It was almost like that moment I had missed when he was born. Up until this point, I was just so worried about taking care of my BABY and worried about much bigger things with his health that I hadn't even thought about it. But this was an exciting moment. All of these things are often taken for granted with the birth of a healthy baby.

As far as his skin care , Chris and I were truly a great team. We completed all of his dressing changes and skin care. We became pros at it and mastered it after a little practice. We became so good that we were able to train all the nurses as they came onto their shifts as we got a different nurse almost every single time. It would take about 1.5 hours total every 3 hours. We had to cover his diaper in Aquaphor, cut the Vaseline gauze in strips to be able to cover and wrap every single joint. We had to remove every part of the diaper like the elastic strings, all the lining, and the straps using scissors. We wrapped all of his joints from head to toe in this gauze like a mummy and also covered his entire body in Aquaphor. We also had to completely cover anything in the incubator that touched him with Aquaphor including putting down Aquaphor covered chuck pads underneath him so that every part of his body was touching Aquaphor only. When he could finally wear clothes, they also had to be covered in Aquaphor including his sleepers, sleep sacks, etc. He was always all greased up and very slippery to hold when we were finally able to hold him and when I could finally try to nurse, I also had to be covered in Aquaphor and it took a team to assist. If you know me, I was not a big fan of this as I'm very very modest lol but I was willing to do whatever it took to be able to finally do all of these things. On average we went through at least three large tubs of Aquaphor a day. They had a hard time keeping it in stock.

Chris and I also were able to administer and prepare all his medications with the nurses. We just needed to check it all off as completed on their computer system. I was pretty proud that they trusted us to do all of his care and that we were able to do all of these things for Cash.

Throughout his two week NICU stay Cash's oxygen continued to drop into 70s and 80s for unknown reasons, which was super scary to me. The constant sounds we heard of beeping monitors and alarms sadly almost become the norm after two weeks day and night. But one sound that is still on my mind and that was and is heartbreaking, scary and sickening is the one in which they call a code, which was way too frequently. All you could do is pray for these sweet babies, their parents and families in the other rooms and the medical team caring for them. No babies or families should ever have to go through that.

One of the many things I learned from our personal experience is how important it is to be assertive when it comes to medical care. I will always be an advocate for the patient especially if the patient can't advocate for themselves.

Working in the medical field, I've always known the importance of being an advocate for yourself or loved ones, but this was even more important when it comes to a medically compromised newborn who can't advocate for themselves and whose lives are so fragile. I learned in the NICU that you are often at the mercy of medical professionals, you literally put your infant's life in their hands. To me it is a bit unsettling and would be so hard for parents who can't be there at all times. We often had to speak up and be extremely assertive which isn't always easy for me). We had to question some things they were doing at times. There were some concerns and things that happened in which Chris and I were so glad we were able to be there to be able to ensure Cash was getting the safest and best care. Keeping up with all of this, ensuring there were no mistakes made, was so overwhelming to do while also trying to just process everything and while trying to keep all my emotions aside. We had to be assertive. I had to put myself into medical mode and tried my best to stay calm and collected so that I could ask the appropriate questions and keep up with everything.

We had to literally take notes of everything being told to us to be able to keep up. We had to ask LOTS of questions - a page of questions each day. I think Cash's case was just so unique and rare and the nurses had never treated a patient with this. So I felt even more pressure to keep up with everything going on and was trying to do research on my own. It was frustrating at times when we felt like the staff was learning with us, so we tried to be completely understanding.

No matter how much we tried to keep up with everything, all we could really do is pray and at some point we put everything into God's hands. Sometimes it is difficult not to have control over everything, especially when it comes to your baby, but we knew that God is much bigger than this and only he knows the whole picture. God is bigger than all things and is above all.

We prayed every night for God to give all the health care professionals guidance to provide the best and safest care for our son and everyone in the hospital. We also prayed every day for God to guide us to make the best decisions about his care. Every day and night, Chris and I prayed over Cash. Chris had written on Cash's medical board that "God will heal baby Cash." And God fulfilled these prayers. God truly answered every specific prayer we prayed at the hospital.

We received so many calls, messages, voicemails and texts from our amazing family and friends throughout this process. I've always known we had the best family and friends, but  everyone's genuine concern, support, encouragement and prayers has really solidified this and has truly blown me away. It honestly means the world to us to have so many wonderful people in our lives. Your prayers are so appreciated and are working. We love all of you so much and couldn't thank you enough. Praying for us is definitely all we could ever ask for and I know I wouldn't have been able to be so strong and gotten through this uncertain times without all of you and all of the prayers.

Also, after all of this, Chris and I became so much closer and stronger as a couple and as parents. I wouldn't have been able to keep it together in the hospital without Chris's strong faith and positivity. When the doctors gave bad news, he would honestly just say, "I'm not accepting this, God's got this. He's going to be ok."

He kept me from completely falling to pieces. He kept me stronger than I could've ever been or ever imagined being considering the situation. I was so thankful for Chris' strength, confidence, support, and faith during this time. It was even more important than ever to have his support because we literally just had each other. We had other people we could talk to, but different from the past in that we couldn't have any family or any other support with us in the hospital due to COVID-19. This was a very difficult time not to be able to have our parents and families by our side. So thank goodness, I had the most faithful person I could've ever asked for right by my side the entire time.

I can't describe to you how much we missed the girls. We felt guilty being away from them for so long but at the same time we knew Cash needed us much more at that point. We also knew that we wouldn't have to worry about them even for one minute because they were in the best care with their Mimi and Papi. We were so thankful and relieved that my parents were able to basically move into our home for a couple of weeks in order to keep the girls in their familiar environment and normal routine. But now we are all back together and we couldn't be more thankful to be home.

During our hospital stay, something that has been neat for Chris and I, is hearing all the different people who have had visions of Cash's future. Cash relating to his involvement in the church and visions of him living a healthy, healed and normal life. We forsee him being a true testimony to God's miracles and healing one day in the future. He will have quite the story to share one day.

After leaving the hospital, we had a long wait of more than 6 weeks for our genetics results to come back from Harvard to confirm it was ichthyosis. The specific type was needed in order for us to know his prognosis and best treatment plan. It seemed like forever waiting.

When it finally came back, we were told he had lamellar ichthyosis and his subtype was bathing suit ichthyosis.

His specific type is super rare, so rare that the case studies show that there are ONLY 30 total reported cases worldwide since the 1970's, which just makes Cash even more special. The hard part is that his is so rare that it is hard for dermatologists and doctors to tell us what exactly our future holds and how his skin will present. But we've been told we will know more of a baseline by the time he is 2 years old.

Since receiving this diagnosis, I have been able to learn the most from FIRST’s (Foundation for Ichthyosis & Related Skin Types, Inc.) private Facebook Parent Group. I'm so thankful to be able to have such an amazing group and website www.firstskinfoundation.org to turn to for knowledge and information. The parents on there are truly amazing and so supportive. I've learned so much from them already.

A lot of people have asked if we did the blood tests when I was pregnant. When Cash was in the hospital, this seemed to be the most popular question and I guess I still don't really understand why. But, no we didn't but it wouldn't have shown this specific, rare gene mutation anyways. Also, it wouldn't had made a difference to us.

What we do know now is, WOW, his skin has come such a long way from birth. You wouldn't even know that he was the same baby. I know that no one from the NICU would be able to recognize him. He truly is a miracle! We had a rough start and he's gone through way too much in his little life, but boy is he tough and so strong. He is one very, very special little guy. He also happens to be the sweetest baby ever. We are so thankful for him, for God's healing he has done so far and the miracles God's performed in his life thus far.

We are so thankful that we were fortunate enough to be able to bring our baby home and to be home all together as a family, that he made it through his airway surgery when he was only 1.5 months, for the progress of his skin and to have stayed out of the hospital. I will take going to Children's for frequent outpatient visits any day over another hospital admission. We are thankful we've gotten in a good routine and have found a good skin regimen for now. We continue to pray for all those babies and children who are still in the hospital. My heart truly breaks for them. We pray for all the babies and children who endure any pain or have any medical issues. We are just so thankful for Cash and that he is going to be okay.

We may not know exactly what our future holds, but what we do know is that we have God by our side ALWAYS, we now know that he will be ok, and that we have the best support from family and friends. Chris and I will do whatever it takes for Cash to live his best life.

Cash makes us soooooo happy and he is already the happiest little baby. We are confident he will live a happy life, blessed by God.

Side note: We are so thankful for the meal train that was set up by my sister Lindsey and bestie Ashley. I was so embarrassed when I first heard of this and worried that people were doing all of that for us, BUT I will admit, it was so amazing! It really allowed us to be able to focus on Cash and his care and appointments and to focus on the girls and to get a break from Wendy's 4 for 4 and fast food  So thank you all so, so, so much for all who did this for us! Thank you also so much for all the surprises and gifts that were placed on the porch for Cash and the girls. We truly have been spoiled and I would've never ever expected any of this. The kindness we've received from so many people will never be forgotten and we appreciate it more than you know. We truly can't thank you all enough.

#RareDiseaseDay #ICHTHYOSIS

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Neither FIRST, its Board of Directors, Medical & Scientific Advisory Board, Board of Medical Editors, nor Foundation staff and officals endorse any treatments listed here.  All issues pertaining to the care of patients with ichthyosis should be discussed with a dermatologist experienced in the treatment of their skin disorder.

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