Written by: Paula Fetzer
My journey as a mother of a child with a rare disease began when I had my 20-week ultrasound while pregnant with my son Alex. I remember very vividly the ultrasound tech starting at the head and working her way down the body. When she got to the heart, she audibly said “Oh!” and then moved back up to the neck and head to take more pictures. I didn’t realize it at the time, but looking back I know that was the first indication that something wasn’t quite right. I later learned that she had found two holes in my son’s heart during the ultrasound, which can be an indicator of Downs Syndrome. Our doctor recommended we have some genetic testing done to rule it out. Of course, my husband and I agreed to the testing. We wanted answers.
We waited patiently for two weeks for the results to come in. I remember getting the phone call and pacing around my backyard while the person on the phone delivered the news. My son did not have Down Syndrome, or any of the other twelve genetic disorders that this test was looking for. I remember the extreme sense of relief I felt. Looking back, I realize now that this sense of relief was naïve. He may not have Down Syndrome, but clearly something abnormal was found during the ultrasound.
Fast forward to the day Alex was born. I was so excited to finally meet my little man! He arrived at 3:02 in the morning, sporting a full head of hair and weighing a healthy 9 pounds and 5 ounces. He had ten fingers and ten toes. I was elated! Then, our pediatrician came in to examine Alex. With Alex being our second child, I could tell right away that she was examining him longer than my first-born son’s exam had taken. She kept listening to his heart, moving his arms and legs, and checking his temperature. When she finished her exam, she shared that he was having trouble regulating his body temperature, that she saw signs of hypotonia (decreased muscle tone), and she was going to have the pediatric cardiologist examine him as well. We ultimately discovered that Alex was born with two holes in his heart and that blood was regurgitating, or flowing the wrong way, through one of his arteries. Even still, after a few days in the hospital, we wereable to take him home. I remember holding him and looking at him, just praying for his heart to grow stronger.
The next several weeks included many visits with the cardiologist. We received encouraging news that the holes in his heart and the regurgitation of the blood were both issues that could potentially resolve themselves. Sure enough, by the time Alex was three months old, the holes had closed on their own and the blood flow was now moving in the normal direction. Once again, I remember feeling extreme relief. And once again, in hindsight, I realize how naïve that relief was.
We were settling happily into our family of four, my husband and I were thrilled to be the parents of two amazing little boys. We thought we had made it past the worst of the health concerns for Alex and things would be normal now. Then, when Alex was five months old, he caught a cold. I watched as his little chest keep rising and falling. Then I could see his ribs and collar bone as he tried to suck in air. Something was wrong. His breathing was extremely labored. I rushed him to the emergency room. They immediately took him to a triage room. While they were examining him, I watched as my baby stopped breathing completely. It felt like time stopped, and it may have only lasted about 20 seconds in reality, but it was enough time for his entire body to turn this awful dark purple color. From head to toe, he was the color of an eggplant. I remember looking at the nurse and finally saying “Do something, he’s not breathing!” They were already on it, they stuck a tube down his throat and suctioned out a ton of mucus. He took a deep breath, started crying, and his skin turned back to a normal color. To this day, I have flashbacks to that moment, seeing my child dying right in front of me. I know in my heart that if I hadn’t made it to the emergency room when I did, that Alex would not be here today.
It turns out that Alex’s airways were too tiny and flimsy for him to be able to clear the mucus and phlegm from his throat when he had a cold. He was admitted to the PICU for ten days. He could not breathe on his own, so he was on oxygen support during the first seven days. When the oxygen support was removed, his oxygen levels dropped immediately. He would not be able to go home until he could show doctors that he could breathe again on his own. While we were in the PICU, the pulmonology team examined Alex and diagnosed him with viral induced asthma. So now he was receiving regular breathing treatments and had an emergency inhaler on hand at all times. Thankfully, Alex started to show signs of improvement as the virus ran its course. After ten days in the PICU, he was breathing on his own again and we were able to go home. Now we had an asthma care plan in place and knew what signs to look for in case of an attack. Ok, asthma, we can handle this. Lots of kids have asthma, there’s treatments in place, we can do this.
Following his stay at the PICU, we also saw an allergist to make sure there wasn’t something else that could be impacting his breathing. The allergist determined that he has a peanut allergy, as well as an allergy to most other nuts. I remember thinking again, ok we can handle this. Lots of kids have this allergy. We can manage this. So now in addition to his inhaler, we carry an epi pen everywhere we go.
A few months later, Alex was scheduled for his first surgery. He had a bronchoscopy done to take pictures of his airways to ensure they were growing and strengthening. My baby was going under anesthesia at nine months old. It was the month of September. I was nervous and I remember the anesthesiologist assuring me that he had administered anesthesia to premature babies weighing less than two pounds, so he was certain that my plump nine month old would do just fine. Thankfully he was right, Alex did very well in surgery and we got positive results. His airway walls were thickening and he was better able to support his own breathing.
Meanwhile, while all of this is going on, we noticed that Alex had a flat spot forming on the back on his head. He had positional plagiocephaly, otherwise known as flat head syndrome. So off to another specialist we go, and Alex is given a helmet to wear full-time until he is about a year and a half old. At the time it felt like a big deal, but now we look back and realize that was one of our easier obstacles to overcome. His head is beautiful and round now, thanks to that helmet!
We spend a few weeks at home, praying for normalcy, and then the next event happens. We were on a family vacation in October and staying at a lake cottage near Traverse City. We had all so been looking forward to getting away and relaxing with family. Alex was 10 months old. One morning at the cottage, I went to wake Alex up. He had slept later than usual but I didn’t think much of it because we were on vacation and out of our normal routine. I went to gently wake him but Alex would not wake. I tried to sit him up and he slumped right over. His eyes partially opened and I saw his eyes roll back into his head. He looked pale. I immediately yelled for my husband and my parents, who were there with us. I told them to call an ambulance, that Alex wasn’t waking up and something was wrong. The next 15 minutes were a blur as I handed Alex to my mom and I frantically threw things into a bag as I knew this would not be a short stay at the hospital. The ambulance came and my husband and I were both able to go with Alex because my parents stayed back at the cottage with my older son. These were the moments that broke my heart too, leaving my older son behind yet again because we had a medical emergency with my youngest son. My oldest son was 4 years old at the time and he still remembers the time the “men in black took Alex away”, which was his interpretation of the EMTs wheeling Alex out of the house on a cart. My husband rode in the front of the ambulance while I sat in the back with Alex. I remember starting to feel sick and the EMT handing me a bag to throw up in. For a moment, it was just too much. But I recovered quickly and was just focused on Alex. What was happening now?
We got to the hospital and after many tests, we learned that Alex’s blood glucose levels were dangerously low at a level of 36. After a meal and some rest, they came back up to a normal level. The doctors wanted us to stay for a few nights so they could monitor his blood glucose levels over a few days. It was determined that they were dropping low overnight when he was going his longest stretch without eating. With a follow up plan in place to see an endocrinologist when we got home, they let us leave the hospital after three days. We tried to enjoy one more day of vacation before heading home. We were now checking his blood glucose levels every few hours by pricking his finger with a needle for a drop of blood and using a glucometer to read the levels. Upon seeing the endocrinologist after we got home, it was determined that Alex was not hypoglycemic or diabetic. Having low glucose levels overnight is something that can happen with babies and they can outgrow it. Luckily, that is what ended up happening with Alex. After a year of testing his glucose levels daily, we were able to confirm that he no longer had the issue with the levels dropping overnight and we were able to move on.
We made it through November and most of December before the next event happened. My parents had been watching our boys for us one evening and Alex was twelve months old at this time. When I went to pick them up, I noticed that Alex was not putting any weight on his left foot. I examined his foot and saw a dark red spot on his ankle. I was worried maybe something had been dropped on it or perhaps he was accidentally stepped on. I called our pediatrician and they said that if he seemed fine otherwise, to just bring him to their office the next morning if he still wasn’t putting weight on it. The next morning came and the red spot was still there and Alex’s ankle was in obvious pain. I took him to the pediatrician, and she immediately said that this looked like septic arthritis, an infection of the joint. She told me to head straight to the emergency room at the children’s hospital and that she would call ahead to let them know I was coming. Sure enough, she was right. Alex was admitted for emergency surgery because a large abscess needed to be drained from his ankle. My baby was having another surgery, and this time we were concerned about him going septic. Once again, I’m in the hospital wondering if my son is going to live. This hospital stay lasted 15 days. Alex did well in the surgery and the infection was cleared successfully. Since there was no open wound on his ankle, his doctors were trying to determine the source of the infection. The bacteria they found in the infection site was one that is commonly found in the mouth. Their only explanation was that the bacteria most likely got into his blood system from his mouth and the infection settled into his ankle. He had to wear a large, heavy boot on his ankle for 10 weeks. He was just starting to learn how to walk before this happened, so now he was back to crawling and dragging his left leg a little behind him. Even through all of that, we thought ok it’s over, we can move forward.
As time went on, Alex started to get repeat ear infections. This came as no surprise to us, however, as our first son experienced the same thing and ultimately had tubes put in his ears. Now it was Alex’s turn. At around 18 months old, Alex would go under anesthesia once again for a quick procedure to have tubes put in his ears. At this point, we’re so accustomed to being in the hospital and having doctor appointments that this one seems like a piece of cake. At least this time we got to go home the same day.
After Alex’s ankle surgery, one of the doctors recommended we see a genetic specialist. She was the first doctor to look at his entire medical history and suggest that there might be something that ties all of his seemingly random medical events together. So, we made an appointment with another specialist and more tests were done. Alex kept getting sick, coming down with colds, having labored breathing, and having to go to the emergency room. We were at the emergency room or at a doctor’s office almost every two to four weeks. We were hoping for some answers.
While we waited for his genetic test results to come back in, our pediatrician noticed that Alex was flapping his hands a lot at one of his appointments. He would also occasionally walk on his toes. She started to ask me questions about his speech and his vocabulary. I shared this his vocabulary was limited but I attributed that to all the time he has been spending in the hospital. Then she hit me with something I was not expecting. She recommended we see a behavioral pediatrician to have him evaluated for Autism Spectrum Disorder. He did so many things well that once again, I naively believed that this would simply be an evaluation to check this off the list and rule it out. So, another appointment with another specialist was made.
Then came the two weeks in October of 2020 that I will never forget. First, I received the call from the genetics office. They had Alex’s test results in and confirmed that he had a very rare genetic disorder called Shwachman Diamond Syndrome. All the person from the genetics office could tell me about it was that it is a bone marrow disorder and that I needed to make a follow up appointment with the hematology and oncology team at the children’s hospital. I had so many questions but she could not answer any of them because it was not her specialty. Her job on that call was just to deliver the diagnosis, not provide any answers. So like anyone would do, I went to the internet. And this is when my heart broke again. Shwachman Diamond Syndrome is a bone marrow disease that impacts every single system of the body. People with this disorder are 40% more likely to be diagnosed with a rare form of leukemia by the time they are teenagers. Their life expectancy is drastically shorter than that of a person without this disorder. I learned that many patients with SDS never make it to adulthood, some dying as early as a few months old.
So here I was, I felt like with as many times as I had watched my son almost die and he had survived, I was still being handed his death sentence. I called to make the appointment with the hematology and oncology team at the children’s hospital. Of course it would be several weeks until they could get us in, so that meant I would have several weeks to just sit and wait.
While I was waiting for that appointment, Alex had his evaluation with the behavioral pediatrician. After a few hours of them examining Alex and me sitting there watching his interactions, it was glaringly obvious to me what they were going to say. Alex was on the Autism spectrum. I just sat in the room and silently started crying. He was going to be two years old in two months and here he had been given a diagnosis of a deadly rare disease and now an Autism diagnosis on top of it. The behavioral pediatrician came over and sat next me. She looked me in the eyes and she said, “Alex has many strengths. He is going to have a happy life. He is going to experience falling in love and being loved. This does not change who he is because this has always been him.” And then she said something that I will forever be grateful for. She said, “If you, as his mom, do the hard work now and get him the support therapies he needs, then by the time he starts kindergarten, no one will pick him out of the crowd as an Autistic child. Everything in our research shows that the earlier you begin supportive therapies, the more successful that child will be as they advance through life.” And so they gave me a plan for Alex. They recommended 25 hours a week of ABA therapy, 15-20 hours a week in a neurotypical preschool classroom, two hours a week of speech therapy, and two hours a week of occupational therapy. My son was going to put in a longer work week than some adults do, and he was two years old.
It was a lot to take in. I would be lying if I said I didn’t go through a brief stage of denial, anger, then mourning. I remember thinking there was no way he needed ABA therapy, that he was too “high functioning” to need it. I remember being angry that our family had to experience this, that we couldn’t just have a “normal” life. Thankfully, my husband’s mother helped me realize that I needed to give myself a little time to allow myself to feel all of these things. Her words stuck with me, “You don’t have to decide anything right now.” I let myself take about two months. I just needed the rest of the world to leave us alone in our bubble for two months.
And then, I was ready to make a plan. Alex deserves the absolute best and there was no way I was going to deprive him of that because I felt sad or angry, or because it was going to be hard. I remembered something the geneticist had said to me during one of our visits. Knowing that Shwachman Diamond Syndrome affects every system of the body, I learned that it impacts the neurological system and can mimic characteristics of Autism. I asked the geneticist if that meant that Alex wasn’t really Autistic but if his SDS was causing those behaviors. Again, I was still learning through all of this. The geneticist told me something invaluable. He said whether it is SDS or Autism that is causing these behaviors in Alex, it doesn’t really matter. He said the Autism diagnosis was what would qualify Alex for the support therapies and services he would need to help him be successful in his everyday life. He said I should use that diagnosis as a tool to fight to get Alex the therapies that would serve him best. And that’s exactly what I did.
I began to research ABA therapy and learn more about what it entailed. I eventually had him enrolled in ABA therapy, speech therapy, occupational therapy, and a neurotypical preschool. By the grace of God, somehow I was able to find a center we liked that provides all three of those therapies that was only two blocks away from his preschool and only ten minutes from my work. And by the grace of God, I work a very flexible full-time job and have an extremely understanding boss who was ok with me taking calls from the road or logging in to work from waiting rooms while I got Alex from preschool to his therapy appointments. And by the grace of God, Alex THRIVED! Our weeks were long, our schedule was insane, and because I was the parent in our household who worked locally, I was the one taking Alex to all of his appointments, scheduling my work day around him, and also spending countless hours on the phone with our insurance company. That is an entirely different battle and my heart bleeds for those parents who do not have flexible jobs or have people to support them in this journey to provide their children with the support therapies they so desperately need. The amount of children going without services due to insurance mistakes or lack of flexibility in the workplace for parents is heartbreaking. Somehow, I was given the fortune of having the ability to make it all work. And that is not something I take for granted.
So our new schedule was in place, Alex was receiving the therapies he needed and he was spending time with neurotypical peers. After a few weeks, we all settled into this new routine and it became our “normal”. Then, we had our appointment with the hematology and oncology team to discuss Alex’s diagnosis of Shwachman Diamond Syndrome, or SDS. By the time this appointment came, I had spent many hours doing my own research. I found this to be both helpful and harmful. Helpful because I eventually connected with the Shwachman Diamond Syndrome Foundation and the Shwachman Diamond Syndrome Alliance. I was connecting directly with medical professionals and parents of other SDS children. They sent me resources to use, tips for things to look out for and expect, and questions to ask our medical team to ensure they were the right doctors for us. Harmful because like many things you look up on the internet, often the most tragic stories are the ones that get highlighted. I read too many stories about parents losing their children at 3 months old, 8 years old, 12 years old, 17 years old, and this list goes on. The reality that this could be our story too was hitting all too hard.
During our first visit with the hematology and oncology team, I immediately knew we were in good hands. The doctors and their team took the time to answer all of my questions. And one doctor shared something I will always hold with me. He said that “Alex’s story will not be the same as other patients with SDS. Each one has their own unique experience. So while you may be learning of some tragic experiences, that does not mean that Alex’s story will be the same.” That was what I needed to hear!
As a person who does not do well just sitting idly (does any mom, really?), I felt like I needed to gather information and make a plan for Alex. We already had a plan and schedule in place to support his needs as an Autistic person. Now I needed to make a plan for his treatment of SDS and we had an amazing medical team behind us to support that. To make an already long story a little condensed, Alex now has a team of at least ten doctors and specialists. These include hematology and oncology, pulmonology, gastroenterology, urology, dermatology, neurology, cardiology, dietician, allergist, speech pathologist, occupational therapists, and the list goes on. He has to have bloodwork done every three months for the rest of his life to ensure his blood cells and platelets are at normal levels. This is done to ensure there are no signs of developing leukemia and also to ensure he is not neutropenic, which puts him at higher risk of infections. He also has to undergo surgery every single year of his life to have a bone marrow biopsy done. This is done to ensure his bone marrow is still functioning and that cancer is not detected. At the age of 5, he now has three bone marrow biopsies under his belt. Each time requires him to be put under anesthesia as they drill a hole in his pelvic bone to take out a sample of his bone marrow. And each time, he has handled it like an absolute champion.
And here we are now, three years after Alex was diagnosed with both Shwachman Diamond Syndrome and Autism Spectrum Disorder. To some of our family and friends, our life looks complicated and chaotic, and maybe even sad. But I can honestly say we are thriving as a family! My husband and I decided very early on that we would never let any of Alex’s medical diagnoses dictate how we lived our lives and raised our boys. We may have to take extra steps to ensure Alex stays as healthy as possible, but that doesn’t stop us from living our lives and letting our boys experience life. From all of this, if I had to share the key things that made a difference for us or that we live by, it would be the following list:
If Alex’s time in this life is potentially limited, then we’re going to do everything in our power to let him live it! We never want to look back and wish we would have let him experience more. He is doing it!
Alex’s diagnoses do not change who he is. He is who he has always been: a bright, beautiful boy with a kind heart. His diagnoses do not define him one bit.
Our life is different than what we originally imagined, and it is a beautiful life just the same! Please see the Holland poem below, this helped me immensely in my grieving period.
Doing the hard work (making the appointments, going to the therapies, doing the research) has made all the difference. Alex’s progression from three years ago to now has been astounding. It was not easy, but it was worth every bit of time and effort to get him there.
We can’t protect Alex from everything – every stare, every child who tells him they don’t want to play with him, every time he has to get more bloodwork done. What we can do is teach him ways to help cope with that. And I can tell you that this 5 year old boy copes with many situations better than some adults do!
We acknowledge feelings and that this life can be hard. It can be hard for Alex, for his brother, for my husband and for me. And when we feel this way, we always come back to family and the love and support we have for each other. That is one thing my sons will never have to question.
I am thankful!!! I am thankful that for everything Alex has faced, it wasn’t worse! That he is still here with us now. I am thankful for my parents, my mother-in-law, my sister-in-law, and so many other family members and friends who have been there with us every step of the way. They have picked Alex up from therapy appointments, stayed with my older son while we were in the hospital, brought us food, cleaned our house, took care of our pets, and the list goes on. Our support system is the best and we are so incredibly lucky!
I won’t sugar coat any of this experience and say it has been easy. At the same time, we have worked too hard and come so far that I do not feel sorry for the challenges we have to face. I have learned that every single parent has a challenge they are working through. I hope they give themselves the same grace they would to others, the same grace I have now learned to show myself and other parents because someone showed it to me. My sons are the light of my life, both have such big hearts and unique personalities. Watching them grow into themselves has been an incredible journey. We’ve had our bumps in the road, and there will inevitably be more in our future. And there is no other group of people I’d rather face those with than my sweet boys, my husband, and our extended family!
