Road to a Cure: The Cysta Sister Eleanor
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It was a perfect, storybook pregnancy. My wife and I had discussed the possibility of having a home birth, utilizing midwives and having our first born in the loving familiarity of our own home. Everything was just so us…we did hypo-babies, learned how to keep and nurture our “positivity bubble” and taught us as a couple how to take an active role in the growth and subsequent birth. On May 20, 2015 our “little guppy” came in grand fashion. Shirley progressed so fast and so smoothly that I almost assumed the role of midwife as our team arrived a mere 15 minutes before Elle was born.
Eleanor “Elle” was the perfect newborn, she rarely cried, and save for a tongue-tie she nursed well and was putting on weight, we were head over heels in love with this beautiful little girl. Around 10 months Elle came down with a stomach virus, after she got over this bug we noticed she wasn’t really swallowing any of the food she put in her mouth. At first seeing her chew up food and slowly spit it all out was funny and could have easily garnered a win on America’s Funniest Home Videos, but that got old quick. Elle nursed well but had a serious issue with swallowing.
At first we were told it was “normal” and would just be a transient phase of limited growth, but that was the main problem, she wasn’t growing. At her 12-month appointment her physical was completely unremarkable, she was very healthy, but just small. We continued to discuss her inability to swallow much. She was eating very little (hummus and yogurt were her staples), spitting most other foods out, drinking lots of water, and nursing on demand No one seemed to concerned, she was highly advanced for her young age and had an ever-growing lexicon that placed her around 2.5 year old in speaking and comprehension. Her 15-month appointment was a low point, she was not gaining again. We pleaded with God to give us some answers because we were literally watching this bright star of ours begin to dim, ever so slightly, but her light was fading and we were running out of options.
We got a referral to OT/SP/feeding therapy for help with possible oral sensory issues and thus began our first introduction to our local children's hospital. December came and we knew something was gravely wrong, we failed our feeding therapy trial. Elle actually lost weight, our options got even slimmer. Nutritionists were consulted and added to our ever-growing list of sub-specialties who all had one thing in common, no one knew what the hell was going on.
At this time GI became everyone’s sole focus. They kept calling it “failure to thrive” which we hated. The diagnosis is anything but, what child doesn’t want to “thrive”? “Are you kidding me?” I snapped at the specialist. I was upset, we were upset because the onus of her health was being pushed back on us as parents, and by proxy, felt like somehow this was Elle’s fault. As an Emergency Department critical care RN in a Level 1 trauma center, and a soon-to-be nurse practitioner I got the keen sense that their diagnosis, was incorrect. In fact, because it was their only diagnosis it felt like a code for “we literally have no idea what is happening.” It’s was a very poor diagnosis on its own, and it tunnel-visioned our providers into a plan of care that failed to look at the causality and the real question “why is this little girl not eating?” No one had any answers for that.
As such the focus began to approach lunacy. First we were to blend up ice cream in everything she drank, of course that didn’t work. They ignored the fact that she only drank water and breast milk. Then the feeding team and GI told us she needed to eat more and to limit her water intake because they thought she was getting full off all the water she was drinking. December crept forward, Elle was fading fast. We were referred to consult Endocrinology for blood work to rule out everything else.
We received a frantic call from a resident in the emergency department of our local children's hospital telling us we had to come in immediately and we would expect an admission STAT. Her electrolytes were way out of sorts, an IV and NG tube where placed as Elle was extremely dehydrated. Mind you, no one would or could answer the questions as to why in someone who drinks copious amounts of water, could present so dehydrated?
Cue the worst 8 months of Elle’s life, we call this the “vomiting period.” No matter what they pushed through her NG, she threw it up. She was constantly waking up the hospital room pleading for water. Again we were told to limit her water intake, they thought her stomach was getting too full on it, causing her to throw up her feeds. Formulas changed, rates changed, doses changed and still she was getting worse. She looked awful and felt awful. At one point she was screaming for water and the doctor looked at us and said, “it’s a behavioral thing now.” My wife looked at him dead in the eye’s and screamed, “what child at this age screams for water just because?” This was our 5th night and we were over their plan of care. If all we were doing inpatient was titrating an NG feed, we determined this was something completely manageable at home. We requested an immediate discharge. Our team had failed to identify anything of real value, and if we stayed another day, there was a serious chance a resident was getting headbutted. We went home late the night before Christmas Eve.
It was 8 torturing months of unsuccessful NG tube nourishment. I will never forget the look of terror Elle had in her eyes as she would literally dry heave her NG tube out of her nose, and I had to re-insert it, sometimes up to 4 and 5 times every day. Until the day I die, I will always carry guilt for dragging my feet on failing to transition her sooner from an NG to a G-tube. Elle continued to throw up multiple times a day, her food intake continued to decline, and she was very weak. Formulas and rates continued to be changed to see what she could tolerate. A scope called an EGD was performed that once again was unremarkable for any ulcers, obstructions, or signs of disease. We were told, “sometimes we just don’t know why kids won’t eat.”
It was finally decided to put in a G-tube so we could try a blended diet with her. In 2017 Elle had her second procedure to have it placed. I remember how happy I was that we finally could get this damn tube out of her nose. At first it seemed this was the answer, she stopped all vomiting and was gaining.... but only for a month. Then the cyclic vomiting episodes started again, we were at a loss.
Her water intake continued to increase as her energy continued to decline. She would get winded playing on the slide or simply climbing the stairs in our home and began refusing to go outside if it was sunny or hot. Despite it all, Elle’s spirit was never stronger, she remained happy with the fiercest of personalities.
In our constant struggle for answers Elle had a swallow study, and a gastric emptying scan performed to determine a cause for the vomiting and feeding intolerance. We consulted an ENT specialist and pediatric dentist who all keyed in on a possible allergic etiology for her issues, as such and after much debate we had her tonsils and adenoids removed. After all these exploratory procedures we discovered a severe gastric delay, but still no one was connecting the dots. It felt like everyone thought their specialty was running the show, so no continuum of care was really established that looked at her presentation in the entire picture from birth to where she is now. She went on a trial medicine to help with the delay, it did nothing.
We were hitting hurdles at every direction, no answers. Still we pushed for more answers, and by this time our GI and feeding team visits were approaching the “frigid zone.” The tension in the room was always strained, no one would look us in the eye, they knew we were pissed. They sent us back to genetics at our request. Without blood work the doctor looked Elle up and down and determined it was not a genetic issue, but a nutrition issue as she was perfectly proportional. She needed more calories.
Back to GI and still with no signs of improvement, we decided to try a GJ tube so we could get her extra calories overnight. The overnight feeds proved unsuccessful. She continued to throw up, would toss and turn, dry-heaving all night which left her miserable and exhausted most days. By her 3rd birthday she finally hit 20lbs, but it was a long-fought battle to get there, and still we had zero definitive answers.
We never knew what the next day would bring and we both were exhausted and frustrated. Through it all, Elle continued to be happy, sharp as a nail, and forever positive. She enjoyed going places and doing things as long as it wasn’t too hot, and we had to make sure her sunglasses and plenty of ice cold water were packed before heading out. She slowly crept up in weight, ounce by ounce. By August 2018, at yet another GI follow up, Elle had only gained a few ounces and still hadn’t grown in height. Our GI doctor had no clue what to do next and basically asked us how we wanted to proceed, we decided we needed a reset. We would find that plan of care with endocrinology as GI's plan of care had to be paused after 2+ years with no real diagnosis and failing to even progress Eleanor out of the 1st percentile in both height and weight. He stated to us “I just feel like I am failing you” we agreed and parted ways knowing something would have to drastically change moving forward. With endocrinology in mind we looked for endorsements on the best candidate to deal with Elle’s unique feeding issues in concert with her overall presentation. We needed someone to finally hear us and look at the big picture of her health history.
Philippe F. Backeljauw came highly recommended as one of the world’s most renowned pediatric endocrinologist’s with specialization in growth disorders. He was out on medical leave until October, but we both felt waiting for him specifically to see Elle was paramount. We were throwing all our faith into this visit, we had nothing left and Elle was suffering in silence.
A small man in size, slim, wearing wire-rimmed glasses who spoke in metered affect with the most mellifluous accent came in to greet us. He shook my hand, then my wife and turned his eye towards Elle and shook her tiny little hand. He arranged himself in his seat and brought up all the lab work ever done on Elle up to that day and swiveled the screen to me and said “I’m very concerned about Eleanor.”
Finally, someone realized something was seriously wrong. “I believe she has been in metabolic acidosis for two years” he said. As we reviewed the lab work, it became clear that Elle’s care was mismanaged with too many sub specialists, each taking a myopic view of their practice of care. In doing so they missed for 2.5 years what one man saw in 5 minutes of looking at her history.
My heart was beating out of my chest, as he continued. Eleanor, right on cue had to use the restroom and Dr. Backeljauw was insistent on a urine sample. We had a laugh as the nurse asked if we needed a hat to place in the toilet for collection and Elle shot back “no thanks, I can pee in the cup.” She had potty trained herself at very early age with all the frequent trips to the toilet throughout the day.
My wife Shirley and Elle went to provide the sample. With my head spinning Dr. Backeljauw and I continued to discuss her case. I had this crazy feeling as we were discussing the signs and symptoms she was presenting with, that I needed to have one pressing question that had always bothered me asked. I said “this may just be me flexing the dad muscle too strong, but I feel like Elle has an unnatural aversion to the sun.” I watched as the color dropped from his face. His eyes got big, and by this time the girls had returned. We discussed the past minutes of conversation and Shirley also endorsed this aversion to the sun as well as her insatiable need for water around the clock. Phillipe took his glasses off and said in a most serious tone “you brought this up to me, I didn’t suggest this.”
He turned to his computer and began to type, then turned the computer and showed us a few differentials with one that caught my eye as every symptom described Elle completely. He kept talking, I felt so lightheaded and underwater that I had to tell myself to pay attention. Maybe it was shock, maybe it was a catharsis from 3 years of uncertainty to now being on the cusp of a true diagnosis, or maybe it was knowing how sick she truly was. I quickly snapped back to reality when he told me how concerned he was not for her gastrointestinal issues, but rather her kidneys. That day we got Elle’s blood work redone, urine checked and a tentative diagnosis of Cystinosis, the real ride was now just getting underway.
We wanted this, but not with this diagnosis. The clinician in me knew that things undoubtedly would get better because now we could take an actionable and focused approach to getting her feeling better daily, we just had no idea that we would be starting with her in such an advanced stage of kidney disease, no one did. In hindsight we know that Phillipe saved her life that day, without question.
Shirley and I drove back home that morning in stark silence as Elle slept knowing we would be getting a frantic call. Like clockwork the lab alerted the our children's hospital emergency department to "irregularities" in Elle’s blood work. We were instructed to drop everything and immediately told come to the hospital and to expect in-patient stay. We packed our bags and headed in. For some reason everything was different this time. Most notably, we were not the only one’s concerned anymore. Blood work was redrawn, and a plan of care for Elle began, the one change was that her GI issues were placed to the rear and Nephrology was now steering the ship. At 1am the morning Elle had her first ultrasound of her kidneys. Everything was falling into place and for the first time, in the throes of this new and brutal diagnosis we truly felt heard.
There were times we felt like Elle was being treated as a case study with many eager residents and specialists trickling into the room to see this rare diagnosis in person. It was our job to make sure that stopped ASAP. I am certain I hurt some well-meaning clinicians feelings after discussing perceived lapses in bedside manner and the understanding that while yes this diagnosis was rare, let's make sure we never again hear someone comment about how “exciting it is to see this outside of a textbook.”
To make matters more difficult Shirley was 6 months pregnant with our son, we received news that this disease was genetically inherited, and our unborn child had a 25% chance of being born with the same condition. Our world had been shattered, but slowly we were re-building into our “new normal.”
After an insane three days of sleepless nights we were discharged home with a plan and the stark realization that Elle at 3 years of age was in stage 3 of chronic kidney disease. Instantly I recalled back to times when I would wash her in the tub and she would instinctively try and suck the water of the wash cloth, "you're a damn ER nurse, how the hell could you miss this Jon?" I would put myself through utter hell re-thinking all the times I "missed" something. I carried a great deal of guilt, and to this very day it's something I work on living with. We were now part of small community, a community we never wanted to be a part of, but one we desperately knew we needed. It seemed like no one could even approach an adequate understanding of what a typical day looked like for Elle. No one realized what intractable nausea and vomiting really entailed.
Elle still was not swallowing but her energy and overall disposition was like night and day once she went on the systemic electrolyte replacement therapy. We were for the first time making her feel better.
It wasn’t until our first our patient visit with nephrology that we truly knew we were being well taken care of. As fate would have it our lead clinician in charge of her care was Stephanie Benoit and unbeknownst, I had been working hand in hand with her husband Justin in an emergency department literally next door. Small world? Fate had placed this angel in our plan of care and we immediately knew we were home when she looked at us both and said “it’s my ultimate goal to be the best Cystinosis physician in the world.” She was all in, we were too. She encouraged us to seek out second opinions and has been working directly with Dr. Paul Grimm who saw Elle all the way out in Palo Alto, CA at his world renowned Cystinosis clinic at the Stanford Medical Center.
From that day forward Elle began to blossom and for the first time we were seeing the true version of our child. A child no longer in metabolic acidosis, who’s kidney disease was being well managed. We were just getting started and already Elle was progressing better than she had ever in her short 3 years of being alive.
The road forward has been anything but typical and linear, nor has it been easy for Elle. At first it meant a metered and repeated battery of tests to get her baseline lab work corrected as our 3 year-long misdiagnosis had caused lasting and chronic kidney disease requiring Elle to receive a transplant at a much earlier age. Countless hours of debate between our insurance provider and concierge pharmacies needing prior authorization, with constant denials until an appropriate diagnosis could be crafted that allowed her to receive the many medications that were and are literally keeping her alive. As such she is now on a total of 10+ different base medications.
We see a speech pathologist for feeding and occupational therapies, opthamology appointmnents to get pictures of her corneas to measure crystal accumulation/removal. We have a full time pediatric nephrology nutritionist as Elle still has a severe swallowing aversion with a hyperactive gag reflex, physical therapy to keep her strong and to continually manage concern for rickets and long bone abnormalities. She is on a 8-hour daily GJ feed with a smoothie we get delivered and then add all the medicine directly to. CRT (cysteine reducing therapy) consists of about 20 capsules daily, with hourly cysteamine eye drops to make sure she is clearing the corneal crystals. There have been some setbacks as her cyclic vomiting meant we had to come back into the hospital for a 5-day feeding therapy trial to get her set for her home GJ feeding schedule.
I was blessed to attend my first Cystinosis Town Hall event in 2019 in Phoenix, AZ. Since Shirley was so far pregnant and at that time and Elle was still in the process of normalizing her levels, I had to travel alone. I knew I was home when I timidly walked into the conference room the first day and three little guys with their shirts off came blazing around the corner, one little boy screamed out loud “look dad they have buttons too” as he ripped his shirt off and proudly showed off his hardware for his new friends to see.
After our son Findley was born we heard about the CRN’s conference in Philadelphia. We packed up the family and made the long drive. We have been welcomed into this incredible community of like-minded caregivers, patients, and leading clinicians from all over the world. Elle was the life of the party in Philly. I was simply trying to get a handle on all the love I felt from “strangers who instantly felt like family.” Seeing all those thriving with this disease was almost too much to bear as we finally met individuals and families living this same story before us who made it through to a good place. We are slowly getting to that place, and it is in times such as this that we reflect back on how far Elle has come in the face of seemingly insurmountable odds.
Elle is now approaching 31lbs, meaning since she was diagnosed and began her CRT with the correct cocktail of electrolytes and adequate nutrition schedule has put on 6lbs in just under 6 months, and gained another 5lbs over the next year. Her hair has begun gowning again and she is living such a wonderful life despite all she deals with on a daily basis. We still are patiently waiting for her to ditch the GJ tube, but that takes time and patience. For now, we are on the “gain train” with a focus on her nutrition and swallowing aversion. If you’re wondering about Finn, he was screened at 3 weeks old and we were informed he showed no signs of active disease process, nor was he a carrier! He is growing like a weed, adores his big sister, and the two of them are inseparable. The two are working hard to be on opposite sleep schedules, he also manages to always run in the opposite direction of Elle. He does however influence Elle and her want to swallow more foods in the most incredible of ways.
We continue to take each day dose by dose. She anxiously waits for her pump to beep signifying it is finished and she can get in a hot steamy shower. Her personality has grown in so many ways; she loves to sing, dance, and tell jokes. She continues to prove to us every day just how strong and brave she is. At her last GJ tube change there were no tears, just questions to the doctor about everything he was doing. She no longer puts up a fight to get her growth hormone shot. She sits on mommy’s lap and shows us where to give the injection. What used to take both of us over an hour to complete, now takes use a mere 10 seconds. It has been 2 years since the diagnosis, and we have now graduated to 3-month nephrology appointments with even fewer blood draws in between. While the future holds much uncertainty there is one thing we can bank on, Eleanor may be little, but she is undoubtedly fierce.
If you got to the end of this story and are looking for the plot twist, it's that this "end" is actually only the beginning. Elle is even rare inside of the rare community because of how long it took to get her correctly diagnosed. With Elle's advanced stage of kidney disease, coupled with her small size and age, its not a question of whether or not she would need a transplant, only when and frankly how many. On average, a living donor kidney can function anywhere between 12 to 20 years, and a deceased donor kidney can improve quality of life for 8 to 12 years. Elle will turn 6 this coming May....
Eleanor “Elle” was the perfect newborn, she rarely cried, and save for a tongue-tie she nursed well and was putting on weight, we were head over heels in love with this beautiful little girl. Around 10 months Elle came down with a stomach virus, after she got over this bug we noticed she wasn’t really swallowing any of the food she put in her mouth. At first seeing her chew up food and slowly spit it all out was funny and could have easily garnered a win on America’s Funniest Home Videos, but that got old quick. Elle nursed well but had a serious issue with swallowing.
At first we were told it was “normal” and would just be a transient phase of limited growth, but that was the main problem, she wasn’t growing. At her 12-month appointment her physical was completely unremarkable, she was very healthy, but just small. We continued to discuss her inability to swallow much. She was eating very little (hummus and yogurt were her staples), spitting most other foods out, drinking lots of water, and nursing on demand No one seemed to concerned, she was highly advanced for her young age and had an ever-growing lexicon that placed her around 2.5 year old in speaking and comprehension. Her 15-month appointment was a low point, she was not gaining again. We pleaded with God to give us some answers because we were literally watching this bright star of ours begin to dim, ever so slightly, but her light was fading and we were running out of options.
We got a referral to OT/SP/feeding therapy for help with possible oral sensory issues and thus began our first introduction to our local children's hospital. December came and we knew something was gravely wrong, we failed our feeding therapy trial. Elle actually lost weight, our options got even slimmer. Nutritionists were consulted and added to our ever-growing list of sub-specialties who all had one thing in common, no one knew what the hell was going on.
At this time GI became everyone’s sole focus. They kept calling it “failure to thrive” which we hated. The diagnosis is anything but, what child doesn’t want to “thrive”? “Are you kidding me?” I snapped at the specialist. I was upset, we were upset because the onus of her health was being pushed back on us as parents, and by proxy, felt like somehow this was Elle’s fault. As an Emergency Department critical care RN in a Level 1 trauma center, and a soon-to-be nurse practitioner I got the keen sense that their diagnosis, was incorrect. In fact, because it was their only diagnosis it felt like a code for “we literally have no idea what is happening.” It’s was a very poor diagnosis on its own, and it tunnel-visioned our providers into a plan of care that failed to look at the causality and the real question “why is this little girl not eating?” No one had any answers for that.
As such the focus began to approach lunacy. First we were to blend up ice cream in everything she drank, of course that didn’t work. They ignored the fact that she only drank water and breast milk. Then the feeding team and GI told us she needed to eat more and to limit her water intake because they thought she was getting full off all the water she was drinking. December crept forward, Elle was fading fast. We were referred to consult Endocrinology for blood work to rule out everything else.
We received a frantic call from a resident in the emergency department of our local children's hospital telling us we had to come in immediately and we would expect an admission STAT. Her electrolytes were way out of sorts, an IV and NG tube where placed as Elle was extremely dehydrated. Mind you, no one would or could answer the questions as to why in someone who drinks copious amounts of water, could present so dehydrated?
Cue the worst 8 months of Elle’s life, we call this the “vomiting period.” No matter what they pushed through her NG, she threw it up. She was constantly waking up the hospital room pleading for water. Again we were told to limit her water intake, they thought her stomach was getting too full on it, causing her to throw up her feeds. Formulas changed, rates changed, doses changed and still she was getting worse. She looked awful and felt awful. At one point she was screaming for water and the doctor looked at us and said, “it’s a behavioral thing now.” My wife looked at him dead in the eye’s and screamed, “what child at this age screams for water just because?” This was our 5th night and we were over their plan of care. If all we were doing inpatient was titrating an NG feed, we determined this was something completely manageable at home. We requested an immediate discharge. Our team had failed to identify anything of real value, and if we stayed another day, there was a serious chance a resident was getting headbutted. We went home late the night before Christmas Eve.
It was 8 torturing months of unsuccessful NG tube nourishment. I will never forget the look of terror Elle had in her eyes as she would literally dry heave her NG tube out of her nose, and I had to re-insert it, sometimes up to 4 and 5 times every day. Until the day I die, I will always carry guilt for dragging my feet on failing to transition her sooner from an NG to a G-tube. Elle continued to throw up multiple times a day, her food intake continued to decline, and she was very weak. Formulas and rates continued to be changed to see what she could tolerate. A scope called an EGD was performed that once again was unremarkable for any ulcers, obstructions, or signs of disease. We were told, “sometimes we just don’t know why kids won’t eat.”
It was finally decided to put in a G-tube so we could try a blended diet with her. In 2017 Elle had her second procedure to have it placed. I remember how happy I was that we finally could get this damn tube out of her nose. At first it seemed this was the answer, she stopped all vomiting and was gaining.... but only for a month. Then the cyclic vomiting episodes started again, we were at a loss.
Her water intake continued to increase as her energy continued to decline. She would get winded playing on the slide or simply climbing the stairs in our home and began refusing to go outside if it was sunny or hot. Despite it all, Elle’s spirit was never stronger, she remained happy with the fiercest of personalities.
In our constant struggle for answers Elle had a swallow study, and a gastric emptying scan performed to determine a cause for the vomiting and feeding intolerance. We consulted an ENT specialist and pediatric dentist who all keyed in on a possible allergic etiology for her issues, as such and after much debate we had her tonsils and adenoids removed. After all these exploratory procedures we discovered a severe gastric delay, but still no one was connecting the dots. It felt like everyone thought their specialty was running the show, so no continuum of care was really established that looked at her presentation in the entire picture from birth to where she is now. She went on a trial medicine to help with the delay, it did nothing.
We were hitting hurdles at every direction, no answers. Still we pushed for more answers, and by this time our GI and feeding team visits were approaching the “frigid zone.” The tension in the room was always strained, no one would look us in the eye, they knew we were pissed. They sent us back to genetics at our request. Without blood work the doctor looked Elle up and down and determined it was not a genetic issue, but a nutrition issue as she was perfectly proportional. She needed more calories.
Back to GI and still with no signs of improvement, we decided to try a GJ tube so we could get her extra calories overnight. The overnight feeds proved unsuccessful. She continued to throw up, would toss and turn, dry-heaving all night which left her miserable and exhausted most days. By her 3rd birthday she finally hit 20lbs, but it was a long-fought battle to get there, and still we had zero definitive answers.
We never knew what the next day would bring and we both were exhausted and frustrated. Through it all, Elle continued to be happy, sharp as a nail, and forever positive. She enjoyed going places and doing things as long as it wasn’t too hot, and we had to make sure her sunglasses and plenty of ice cold water were packed before heading out. She slowly crept up in weight, ounce by ounce. By August 2018, at yet another GI follow up, Elle had only gained a few ounces and still hadn’t grown in height. Our GI doctor had no clue what to do next and basically asked us how we wanted to proceed, we decided we needed a reset. We would find that plan of care with endocrinology as GI's plan of care had to be paused after 2+ years with no real diagnosis and failing to even progress Eleanor out of the 1st percentile in both height and weight. He stated to us “I just feel like I am failing you” we agreed and parted ways knowing something would have to drastically change moving forward. With endocrinology in mind we looked for endorsements on the best candidate to deal with Elle’s unique feeding issues in concert with her overall presentation. We needed someone to finally hear us and look at the big picture of her health history.
Philippe F. Backeljauw came highly recommended as one of the world’s most renowned pediatric endocrinologist’s with specialization in growth disorders. He was out on medical leave until October, but we both felt waiting for him specifically to see Elle was paramount. We were throwing all our faith into this visit, we had nothing left and Elle was suffering in silence.
A small man in size, slim, wearing wire-rimmed glasses who spoke in metered affect with the most mellifluous accent came in to greet us. He shook my hand, then my wife and turned his eye towards Elle and shook her tiny little hand. He arranged himself in his seat and brought up all the lab work ever done on Elle up to that day and swiveled the screen to me and said “I’m very concerned about Eleanor.”
Finally, someone realized something was seriously wrong. “I believe she has been in metabolic acidosis for two years” he said. As we reviewed the lab work, it became clear that Elle’s care was mismanaged with too many sub specialists, each taking a myopic view of their practice of care. In doing so they missed for 2.5 years what one man saw in 5 minutes of looking at her history.
My heart was beating out of my chest, as he continued. Eleanor, right on cue had to use the restroom and Dr. Backeljauw was insistent on a urine sample. We had a laugh as the nurse asked if we needed a hat to place in the toilet for collection and Elle shot back “no thanks, I can pee in the cup.” She had potty trained herself at very early age with all the frequent trips to the toilet throughout the day.
My wife Shirley and Elle went to provide the sample. With my head spinning Dr. Backeljauw and I continued to discuss her case. I had this crazy feeling as we were discussing the signs and symptoms she was presenting with, that I needed to have one pressing question that had always bothered me asked. I said “this may just be me flexing the dad muscle too strong, but I feel like Elle has an unnatural aversion to the sun.” I watched as the color dropped from his face. His eyes got big, and by this time the girls had returned. We discussed the past minutes of conversation and Shirley also endorsed this aversion to the sun as well as her insatiable need for water around the clock. Phillipe took his glasses off and said in a most serious tone “you brought this up to me, I didn’t suggest this.”
He turned to his computer and began to type, then turned the computer and showed us a few differentials with one that caught my eye as every symptom described Elle completely. He kept talking, I felt so lightheaded and underwater that I had to tell myself to pay attention. Maybe it was shock, maybe it was a catharsis from 3 years of uncertainty to now being on the cusp of a true diagnosis, or maybe it was knowing how sick she truly was. I quickly snapped back to reality when he told me how concerned he was not for her gastrointestinal issues, but rather her kidneys. That day we got Elle’s blood work redone, urine checked and a tentative diagnosis of Cystinosis, the real ride was now just getting underway.
We wanted this, but not with this diagnosis. The clinician in me knew that things undoubtedly would get better because now we could take an actionable and focused approach to getting her feeling better daily, we just had no idea that we would be starting with her in such an advanced stage of kidney disease, no one did. In hindsight we know that Phillipe saved her life that day, without question.
Shirley and I drove back home that morning in stark silence as Elle slept knowing we would be getting a frantic call. Like clockwork the lab alerted the our children's hospital emergency department to "irregularities" in Elle’s blood work. We were instructed to drop everything and immediately told come to the hospital and to expect in-patient stay. We packed our bags and headed in. For some reason everything was different this time. Most notably, we were not the only one’s concerned anymore. Blood work was redrawn, and a plan of care for Elle began, the one change was that her GI issues were placed to the rear and Nephrology was now steering the ship. At 1am the morning Elle had her first ultrasound of her kidneys. Everything was falling into place and for the first time, in the throes of this new and brutal diagnosis we truly felt heard.
There were times we felt like Elle was being treated as a case study with many eager residents and specialists trickling into the room to see this rare diagnosis in person. It was our job to make sure that stopped ASAP. I am certain I hurt some well-meaning clinicians feelings after discussing perceived lapses in bedside manner and the understanding that while yes this diagnosis was rare, let's make sure we never again hear someone comment about how “exciting it is to see this outside of a textbook.”
To make matters more difficult Shirley was 6 months pregnant with our son, we received news that this disease was genetically inherited, and our unborn child had a 25% chance of being born with the same condition. Our world had been shattered, but slowly we were re-building into our “new normal.”
After an insane three days of sleepless nights we were discharged home with a plan and the stark realization that Elle at 3 years of age was in stage 3 of chronic kidney disease. Instantly I recalled back to times when I would wash her in the tub and she would instinctively try and suck the water of the wash cloth, "you're a damn ER nurse, how the hell could you miss this Jon?" I would put myself through utter hell re-thinking all the times I "missed" something. I carried a great deal of guilt, and to this very day it's something I work on living with. We were now part of small community, a community we never wanted to be a part of, but one we desperately knew we needed. It seemed like no one could even approach an adequate understanding of what a typical day looked like for Elle. No one realized what intractable nausea and vomiting really entailed.
Elle still was not swallowing but her energy and overall disposition was like night and day once she went on the systemic electrolyte replacement therapy. We were for the first time making her feel better.
It wasn’t until our first our patient visit with nephrology that we truly knew we were being well taken care of. As fate would have it our lead clinician in charge of her care was Stephanie Benoit and unbeknownst, I had been working hand in hand with her husband Justin in an emergency department literally next door. Small world? Fate had placed this angel in our plan of care and we immediately knew we were home when she looked at us both and said “it’s my ultimate goal to be the best Cystinosis physician in the world.” She was all in, we were too. She encouraged us to seek out second opinions and has been working directly with Dr. Paul Grimm who saw Elle all the way out in Palo Alto, CA at his world renowned Cystinosis clinic at the Stanford Medical Center.
From that day forward Elle began to blossom and for the first time we were seeing the true version of our child. A child no longer in metabolic acidosis, who’s kidney disease was being well managed. We were just getting started and already Elle was progressing better than she had ever in her short 3 years of being alive.
The road forward has been anything but typical and linear, nor has it been easy for Elle. At first it meant a metered and repeated battery of tests to get her baseline lab work corrected as our 3 year-long misdiagnosis had caused lasting and chronic kidney disease requiring Elle to receive a transplant at a much earlier age. Countless hours of debate between our insurance provider and concierge pharmacies needing prior authorization, with constant denials until an appropriate diagnosis could be crafted that allowed her to receive the many medications that were and are literally keeping her alive. As such she is now on a total of 10+ different base medications.
We see a speech pathologist for feeding and occupational therapies, opthamology appointmnents to get pictures of her corneas to measure crystal accumulation/removal. We have a full time pediatric nephrology nutritionist as Elle still has a severe swallowing aversion with a hyperactive gag reflex, physical therapy to keep her strong and to continually manage concern for rickets and long bone abnormalities. She is on a 8-hour daily GJ feed with a smoothie we get delivered and then add all the medicine directly to. CRT (cysteine reducing therapy) consists of about 20 capsules daily, with hourly cysteamine eye drops to make sure she is clearing the corneal crystals. There have been some setbacks as her cyclic vomiting meant we had to come back into the hospital for a 5-day feeding therapy trial to get her set for her home GJ feeding schedule.
I was blessed to attend my first Cystinosis Town Hall event in 2019 in Phoenix, AZ. Since Shirley was so far pregnant and at that time and Elle was still in the process of normalizing her levels, I had to travel alone. I knew I was home when I timidly walked into the conference room the first day and three little guys with their shirts off came blazing around the corner, one little boy screamed out loud “look dad they have buttons too” as he ripped his shirt off and proudly showed off his hardware for his new friends to see.
After our son Findley was born we heard about the CRN’s conference in Philadelphia. We packed up the family and made the long drive. We have been welcomed into this incredible community of like-minded caregivers, patients, and leading clinicians from all over the world. Elle was the life of the party in Philly. I was simply trying to get a handle on all the love I felt from “strangers who instantly felt like family.” Seeing all those thriving with this disease was almost too much to bear as we finally met individuals and families living this same story before us who made it through to a good place. We are slowly getting to that place, and it is in times such as this that we reflect back on how far Elle has come in the face of seemingly insurmountable odds.
Elle is now approaching 31lbs, meaning since she was diagnosed and began her CRT with the correct cocktail of electrolytes and adequate nutrition schedule has put on 6lbs in just under 6 months, and gained another 5lbs over the next year. Her hair has begun gowning again and she is living such a wonderful life despite all she deals with on a daily basis. We still are patiently waiting for her to ditch the GJ tube, but that takes time and patience. For now, we are on the “gain train” with a focus on her nutrition and swallowing aversion. If you’re wondering about Finn, he was screened at 3 weeks old and we were informed he showed no signs of active disease process, nor was he a carrier! He is growing like a weed, adores his big sister, and the two of them are inseparable. The two are working hard to be on opposite sleep schedules, he also manages to always run in the opposite direction of Elle. He does however influence Elle and her want to swallow more foods in the most incredible of ways.
We continue to take each day dose by dose. She anxiously waits for her pump to beep signifying it is finished and she can get in a hot steamy shower. Her personality has grown in so many ways; she loves to sing, dance, and tell jokes. She continues to prove to us every day just how strong and brave she is. At her last GJ tube change there were no tears, just questions to the doctor about everything he was doing. She no longer puts up a fight to get her growth hormone shot. She sits on mommy’s lap and shows us where to give the injection. What used to take both of us over an hour to complete, now takes use a mere 10 seconds. It has been 2 years since the diagnosis, and we have now graduated to 3-month nephrology appointments with even fewer blood draws in between. While the future holds much uncertainty there is one thing we can bank on, Eleanor may be little, but she is undoubtedly fierce.
If you got to the end of this story and are looking for the plot twist, it's that this "end" is actually only the beginning. Elle is even rare inside of the rare community because of how long it took to get her correctly diagnosed. With Elle's advanced stage of kidney disease, coupled with her small size and age, its not a question of whether or not she would need a transplant, only when and frankly how many. On average, a living donor kidney can function anywhere between 12 to 20 years, and a deceased donor kidney can improve quality of life for 8 to 12 years. Elle will turn 6 this coming May....
Co-organizers (2)
Jonathan Dicks
Organizer
Cincinnati, OH
Shirley Dicks
Co-organizer