The Most Common Rare Syndrome You've Never Heard Of

Wednesday, August 14, 2013

Sarah Farley--Unravelled

“Are you tired? Worn out? Burned out on religion? Come to me. Get away with me and you’ll recover your life. I’ll show you how to take a real rest. Walk with me and work with me—watch how I do it. Learn the unforced rhythms of grace. I won’t lay anything heavy or ill-fitting on you. Keep company with me and you’ll learn to live freely and lightly.” (Matthew 11:28-30 MSG)

The day of the ultrasound was the day it all started to unravel. Gradually I was able to grasp at the bare threads of what I had called my faith and cover the nakedness of my reality for a few more months.

And then the preacher said there was a plan. That God had a plan for every one of our days before we ever drew a breath. Even for this? For me? For her?! 

That was the end of religion as a philosophy, as a way of life for me.


I had experienced God's presence in my life at critical moments. Junctures of crisis. At my dad's deathbed. Through smokey, sweaty, drunken attempts to fill the aching void. At my first pregnancy's porcelain funeral. In front of a lonely post-partum sink full of dishes.

But, then, here was this precious, fragile, fiery bundle of life with endless unknowns who had shattered the boundaries of what I thought I had mastered as a mother.


A placation, a momentary salve from a Higher Power wasn't going to cut it this time. If He was out there and could be found, I had to have real answers, even if they were not what I wanted to hear.

At my invitation, He made Himself known. Not how I expected. Not in my time. Beyond my dreams.

Some questions have been answered
but not others.

I am still unravelled
but I am at peace.

I know I am not alone. And more importantly, she isn't. I don't know yet whether He planned this for her. I am less certain whether it would be good or bad if He did.

I've learned how to hand the pain to Him, the struggle. How not to have to be in control. How to rest in the uncertainty of life - both mine and hers. How to sign the spiritual surgical consent form and that it's my choice. That there is no wrong question to ask and that there may never be answers.

I've completely unravelled.

And that's ok. 

Thursday, July 11, 2013

Heather Cole--Ten Day Cancer Scare

I will never forget what it felt like to walk in darkness so dark my mind could not grasp up or down, right or left, forwards or backwards. With hands outstretched I felt for every limb, every leaf, trying to navigate through brush and around trees without smacking into or tripping over them. I was terrified. I knew that if I got turned around I would get lost, or much worse: I would come across an animal that was only too happy to have me for a late night snack. I hadn't lived in East Africa very long, and those National Geographic documentaries I had seen as a youngster played in my mind. Most kids in the boarding school had lived overseas for most of their lives and didn't think twice about wandering around in the endless blackness of an African night. But I was 14 when we moved to the DRC: I was an unseasoned MK.

As insidious as sunburn on a cloudy day the process of 'seasoning' takes place whether you welcome it or not.

In many ways I feel like I am being seasoned by the many challenges of Noonan Syndrome, wandering, tripping and grasping for branches along the darkness of my journey. So many days are full of joy and celebrations of milestones, and every day family life. But there have been several, dark days where I have faced terrible fear that seeks to dismantle the ever-changing 'normal' we as a family so desperately strive to attain.

May 29th, 2013 was one of those dark days…

Rhyse had been having fevers every day for seven days. Though a nasty, odd lung virus had been weaving its way through the family, none of us had experienced fevers for more than a day or two. Further, Rhyse had only had his new appendage (gtube) for four weeks. It was certainly possible he had an infection in the stoma. On day seven I called Rhyse's pediatrician, Dr. S, and managed to talk my way into an appointment that day: not an easy task with the newly installed nurse line where I am no longer "Rhyse's mom". Instead I am a complete stranger, treated like a paranoid mom who doesn't know how to handle a fever. With teeth clenched I calmly educated the nurse on Noonan Syndrome and how it affects Rhyse, and that, "no, Tylenol is NOT going to be the cure all. And no, Rhyse can't wait three more days."

A few hours later, with a screaming one year old in my arms, I walked into Dr. S's office. She took one look at him and she knew too, something was amiss. And even if it was a virus, not an infection, it was overtaking him and he needed medical supervision, as usual thus another trip to the ER. This trip to the ER would be no different than all the others, I thought.

As I left the doctor's office I called my husband, Jon, and let him know he was going to have to leave work early to be home when our two girls get off the bus at 4pm. Dr. S had requested he stay overnight for observation-- no matter what.

Not Just Another ER Visit 

Being very hopeful that our hospitalization days were now off the radar for at least the summer I no longer had my "just-in-case bag" packed. Because of this I had to stop at home for maybe five minutes to throw some overnight clothes in a plastic bag. I didn't even entertain the thought of more than a one night's stay.

My routine trips to the ER are not without stress. Rhyse is once again sick, uncomfortable, scared of the personnel, and for whatever reason we are usually arriving in the middle of the night when all sense of normalcy or social appropriateness is severely lacking! If that isn't enough with every visit I have to donne my educator hat, always answering that proverbial question, "so what does Noonans mean medically?" or "what are his diagnoses?" or my favorite, "how do you spell that?" Are you kidding me? All that information is in his digital chart! Why on earth do I have to spell something that's right in front of them? Okay, so I am being cynical. But truth be told, Noonans seems more like a rare, tropical disease by the way many medical professionals ask their questions! I'll get off my soap box now…

Rhyse is 20 months old. He knows where he is the second we enter the parking garage with its green and orange painted walls, signifying where to park for the Children's hospital (Spectrum, the general hospital is attached to the Children's Hospital). He knows the sights, the smells, and the bustling chaos of the hospital. He knows that men and women who hurt him wear scrubs and carry stethoscopes. His fear is evident: clenched hands, rigid arms and mottled body. He begins to cry from the get go and begs, with his hands and eyes, not to be taken out of his stroller. On any other occasion, anywhere else in the world, he would rather be held. But in the hospital he clings to his stroller for dear life, finding comfort in the idea that if he's buckled in the seat no one is going to hurt him. To this day it pains me to pull him out of his place of refuge to be poked, prodded, and squeezed, knowing he's in utter panic.

After a quick weight and height check we were escorted to a room. It's an odd feeling when you walk down the halls of your Children's ER and realize you know your way around, you know each piece of children's wall art before you see it, and you recognize most of the staff: and they recognize you. 

I looked up at the clock as I scooted onto the all-to-familiar, uncomfortable gurney with the thin, plastic mattress made for little butts. The clock showed three o'clock in the afternoon. I knew it was going to be a long, hard day, and an even longer night. I had no idea this one day would turn into yet another tailspin of emotions, confronting the kind of fear I never even imagined would again be placed before me.
As we muddled along through each phase of ER protocol Rhyse became increasingly inconsolable. By the time we had arrived at the ER his morning dose of Tylenol had long since worn off and any control over the fevers it previously held was gone. Not wanting him to be in any more agony than necessary I began pleading with everyone who came in the door for Tylenol—I was told he had to wait for the IV. Each time we were alone in the room I was tempted to give him a dose from my diaper bag stash. But I knew in the long run he would end up with a double dose, so I held off and tried to keep my nerves in check.

Calling Nurse Number Four

Throughout Rhyse's 20 months of life he has had numerous platelet transfusions, more blood draws than I can count, three bone marrow aspirations, a gtube placement, several sedated EKGs, and of course a sprinkle of unscheduled ER visits and nineteen days in the NICU. IVs are a 'normal' part of his life. But Rhyse's body isn't so obliging. Between Rhyse's small stature, petite bone structure, hypersensitivity to pain, and veins as curly and winding as his gorgeous, red hair IVs are a terrifying experience. What's more, finding a nurse who can stick a vein and get a successful flush in less than three attempts is next to impossible.

On this day Rhyse endured the worst experience with IVs to date. Already screaming from the effects of a high fever, complete with shivers and tremors, nurse number one scanned his limbs over and over, careful to choose the best site; his left arm. Historically Rhyse's left arm has indeed been the best donor. But after a year and a half of donations the veins can no longer hold a flush, and I warned the nurse as such. Nurse one tried anyway. After nearly twenty minutes of fishing for a vein in two, left arm sites and watching them blow, Mr. Nurse number one gave up. I reminded Mr. Nurse Rhyse was a hard stick. I think he was actually relieved I wasn't upset with him for failing: most nurses do. He bandaged up the two holes and called nurse two from Peds Transport for help. When nurse two and her helper arrived they were confident they could "save the day".  I wasn't impressed with their enthusiasm. We needed skill, not pride. True to form nurse two and her helper were overwhelmed with the challenge and gave up as well. Now two more sites were bleeding, and two more kiddy bandages were applied.

At this point I noticed Rhyse's blood was unusually thin. I knew from experience his platelets must have dropped to about 50k. Only three weeks prior they were 93K, and had been holding in the 90s for nearly a year. I didn't say anything to the nurses. I have also learned that if I come across as too knowledgeable, nurses get offended. I just tucked that notion in the back of my mind and concentrated on cuddling Rhyse throughout the ordeal, though by this point my nerves were shot and so was Rhyse.

With continued screaming and still no Tylenol I was getting overwhelmed with emotion. I held Rhyse close to me throughout every attempt, but no amount of mommy love can take away such fear and pain. I can't even say, I've 'been there too'. I haven't. I can't understand. I can only hold and love.

When nurse two failed a NICU nurse was called in. Rhyse was now beyond the point of no return. Each time someone slid open the sliding glass door and walked in he pointed at them, looked up at me with eyes filled with fear, and shook his head no. That was the first time I had ever seen him put two communication pieces together: and the last time. And when they stepped towards him, he screamed for all he was worth.
NICU nurse three spent an inordinate amount of time trying to find a vein that looked straight enough and large enough for an IV. After much fumbling she made her two attempts, and failed. Now we were up to six bleeding sites tightly covered with gauze and daffy duck band aids.

Nurse one came back on the scene asked if I knew anyone in particular from Hematology who could help. I told him, "Mary". Historically she was the only nurse on the tenth floor who was successful during his twice a week platelet transfusion days. Nurse one called Hematology, but Mary wasn't on the floor that day. Another nurse came in her stead. She tried. She struck out. She left two more holes to bandage.

Nurse one now at his wits end got the OK to give Rhyse Tylenol orally. Finally. I still don't understand why someone let two hours lapse before agreeing but those aren't answers you get in the ER.

After two and a half hours of IV attempts Rhyse still needed an IV line. Honestly I don't remember where the fourth nurse came from. The first stick was a bust, but the second—in the temple—finally held the flush; at least for a few hours. The nurses left the room leaving behind trash, a bloodied blanket, rolls of medical tape and used scissors sitting on the gurney. I cleaned up after them, as usual.

With IV placed, Tylenol administered, and blood draw sent to the lab the ER doctor arrived with his game plan. Mind you it was now 6pm, three hours after arriving and both Rhyse and I were beyond exhausted. I don't remember the doctors' name. And it doesn't matter. This ER doctor lit up when he saw Rhyse had Noonans. Early in his career he had interned with Dr. Noonan herself. Finally a doctor who didn't have to look up Noonan Syndrome on wikipedia before coming into the room! By the way doctors, if you want to solicit complete distrust in a patient's mom, just keep telling them that you had to look up Noonans on the internet! At least pretend you know.


Dr. ERs plan was to start eliminating possible issues from the top. He ordered a chest x-ray for pneumonia, CT scan for possible stoma infection, and antibiotics for just in case. In truth neither I nor the ER Dr. believed anything would come of the tests. Rhyse probably had a virus that overtook his fragile, petite body and needed more powerful drugs than I could give him at home.

After a time transport arrived and wheeled Rhyse and I to the x-ray room. Just the movement alone distracted Rhyse and he began to calm down just a stitch. By the time we were in the room he was interested enough in his surroundings that I was able to put him in the x-ray chair without any fuss. The tech quickly took two pictures and then wheeled us back to our tiny, stale room with the ugly pastel curtains with lines and circles.

Within minutes Dr. ER had the computer images in front of him, and a report from the tech that said, "slight thickening in the lungs possibly due to lung virus." Regardless pneumonia was ruled out—as expected.

Next on the list was a CT-scan. What an ordeal that is. The nurse came in the room with two, monster size cups of water laced with dye to slowly administer via Rhyse's gtube. I sucked the fluid up into one of my 60 ml syringes and ml by ml pushed each cup of water into his stomach, over the course of two hours. At 7pm he was finally eligible for the scan, but no one came to get us. After nearly an hour we were still waiting. If I had the energy I would have tracked down a nurse and inquired. But I was too tired, and didn't want to leave Rhyse alone on a gurney with side rails so large his entire body could roll through! Finally a nurse came in saying he over-heard someone on the phone discussing Rhyse's CT. Apparently the problem was IV number 8, the scalp IV. Up to this point no one had experience administering the CT-scan dye into a scalp vein: they didn't know if there would a negative reaction or not. I didn't even know there was going to be more dye in the first place. Doctor patient communication in hospitals is rarely up to par. To complicate matters no one wanted to be personally responsible for the dye push if the dye caused Rhyse's skin to burn. I assured Mr. Nurse that I would not blame anyone if there was a skin reaction. Rhyse's immediate health was more important than suing a hospital over a skin irritation. Fortunately he took the cue and volunteered to do the push. I was more interested in getting the CT scan of his belly than fearing what might be.

When we finally arrived in the CT room it was late evening. We had been in the ER for several hours and I was wishing we were already in Observation where I could cuddle with Rhyse and try and get some much craved for sleep. Having been assured the CT was a quick and painless process I looked forward to getting it done and getting the results.

But easy was not to be. As Mr. Nurse was flushing the dye into the right side of Rhyse's head his head began to balloon. Sure enough, the vein—the eighth attempt—blew. Thankfully the tech realized the situation wasn't going to get any easier. He told me to hold Rhyse's arms up while he moved him in and out of the machine, and we will get what we get! Thankfully the scan was successful.

At this point Rhyse was so exhausted he was nearly limp in my arms. His eye lids were lobster red from lack of sleep, and his body pale from trauma. He needed sleep. I needed sleep. Somewhere along the line he passed out on my lap while I stared at those pastel colored curtains that covered the glass sliding door to the room.

While we were waiting the test results all the shifts had changed, giving us new nurses and a new doctor. With the shift change came more vitals, more questions, and more and more waiting. The closer the night drew towards midnight the louder and more crazy the ER became: it's a zoo in the middle of the night!

Seven hours after arriving to the ER the night shift doctor came in and greeted us. I was beyond the point of being able to process anything and just needed peace and quiet to smooth out my nerves, and allow Rhyse some undisturbed rest.

I was not prepared for what the doctor had to say.

Emotional Tailspin
In a very kind, compassionate voice she relayed the news.  The CT scan had revealed a large, long tumor along his spine and sympathetic nervous system: “homogenous but abnormal posterior mediastinal soft tissue density.” We were to be admitted to the 7th floor for the night and would begin the next day with an MRI, more blood tests, and a urine catch.  “Don’t worry until you have to” were her words.  Yea, ok.  She slipped out the door and tears slipped out of my eyes…I was too tired to think clearly, or keep my wits about me.  It was 1130pm and my emotions were already worn to the bone.  I was alone and tired and I had no resistance to fear.

When the doctor walked out of the room I melted.  I was suddenly thrust back to the day Rhyse was born, October 17th, 2011 when an attending doctor told me Rhyse was “probably terminal.”  I never allowed myself to go back there emotionally, nor did I entertain the idea that I would once again be looking at the word, “terminal.”  Of course I didn’t have any information at this point, but no one was being overly positive.  I called my husband, just like 20 months prior, and told him the news.  I can’t speak for him, but for me it was unbelievably difficult to comprehend the situation.

In today’s world any words that even come close to relating to cancer are terrifying: mass, foreign body, tumor, and the like.  When I say my entire body was trembling from the inside out, I am not exaggerating.  It was all I could do to keep my hands still enough to function normally.  I mentally fought against every thought that would take me down the road to the death of my son.  I have been through just enough in my life to know that there is great wisdom in, “take every thought captive” found in scripture.  If I allowed myself to venture down the wrong mental path, I would not have been able to withstand the stress.  I had to force myself to wait for all tests to come back and take the information one piece at a time. I would be lying if I said I wasn’t overwhelmed off and on throughout those first few days of blood tests, MRIs, and urine tests.  But I did my best to live moment by moment, hanging onto my Faith, my family, and all the encouragement I received from the RAS family. 

At 2am Rhyse was finally admitted to the seventh floor.  I have no idea what takes hours to get admitted to a room: the wait was impossible.  When at last Rhyse was put into his mammoth size crib, and I had the overly firm, orange love seat with geometric shapes pulled out to a bed I literally passed out in exhaustion.  Not long after getting into the room Rhyse had IV number 9 put in: I didn’t hear a thing. 

The morning is a blur.  I remember finding out that the MRI was scheduled for 11am, and several doctors, nurses and hematology specialists coming and going throughout the day.  We were once again in a waiting pattern and nothing could hurry the process along.

As I stared out the floor to ceiling windows at the city below, an all too familiar sight, I felt like I had been swept into a place where a time continuum didn’t exsit.  My entire life was now encapsulated into one little hospital room. What transpired, what information I would be given, what outcomes there were—all occurred in one small space, in one small moment in time. 

Thursday was spent holding Rhyse through raising temperatures, discomfort, and more waiting.  When my husband asked one of the Hem/Onc doctors if she was suspicious about what they might find, she said, “yes.”  He has JMML and there’s not much doubt he has developed Neuroblastoma. But at this point all we knew is an MRI would confirm the tumor and give the Tumor Board something tangible to analyze.  The MRI doesn’t diagnose, it just gives a road map for further tests and an operation.

Late Friday afternoon two Hematology doctors arrived with the report from the Tumor Board meeting that had met early that morning.  Both doctors are kind, caring, truly compassionate people.  Helen Devos Children’s 10th floor hematology department never ceases to amaze me with their mix of professionalism and humanness.  I love them all.

When the two doctors walked in the room Jon and I were standing next to Rhyse’s crib.  My insides had not yet calmed down from the initial shock two days earlier, and fear was getting its grip on my heart.  As the hematologists calmly gave their report the room suddenly started turning black, sweat appeared out of nowhere and I felt myself starting to collapse.  Fortunately I was standing in front of the crazy, modern patterned rocker with the footstool that’s nearly impossible to put down. I just bent my knees and plopped.  One of the hematologists noticed I didn’t look so good and asked if I was ok. Choking back tears I said, “We’ve just gone through so much. I wasn’t prepared for another emotional upheaval.”  Truth be told I am never prepared, but being blind-sided by this tumor was almost more than I could bear. We had no idea this year would be more difficult than his first year. 

As the doctors began unfolding their plan for a biopsy, 2 bone marrow aspirations, and testing his urine for catecholamine’s I could barely soak it all in. Through their explanation of spinal cancer, and encouragement despite circumstances I was still completely overwhelmed by the whole scenario.  So many thoughts raced through my mind.  The worst case scenarios always rear their ugly heads first and are the hardest to battle.  My most pronounced fear was losing Rhyse and having two little girls (sisters) broken inside.  Rhyse and his sisters have an unusually tight bond. No doubt from all the trauma and separations and hospitalizations.  My three kids are happiest when they are all together in one room:  I was terrified for my girls.  I have always battled anxiety, and twice in my life it struck with a vengeance.  But through those two difficult times I learned some valuable lessons: one, the mind is a powerful tool against anxiety and two, without the Lord I have no power at all.  And so as fear and anxiety constantly beat at my door, I battled back.  Sometimes they won, sometimes I won.

Pictures of all the babies in the RAS family that didn’t make it (on FB) kept passing through my mind. Would I lose my baby too?  I remember one of the phases I went through in the first three months of Rhyse’s life. Rhyse was born with thrombocytopenia so he required near daily platelet transfusions.  I spent long hours talking with moms and dads and grandpas and grandmas whose kids had cancer.  In that time I experienced guilt.  I don’t understand why.  I felt guilty that Rhyse was not as “bad” as a child with cancer. It is not that I wanted Rhyse to have cancer: I just can’t explain where the emotion came from.  It’s completely irrational.  But there I was, facing the reality that now I too might be one of those moms —forced to live in that black place of unknown, whose child is given some imperceptible percentage chance of surviving.

On Friday, three days after arriving in the ER, Rhyse’s doctors agreed we should go home and come back the day after Memorial Day (three days later) to begin the array of testing.   Packing up and leaving was not without emotion.  Usually leaving the hospital is a momentous sigh of relief, not unlike escaping some sort of mental prison.  But this time it was just more time to wait and pray and believe—regardless of what my emotions were screaming.

Three Day Break

Saturday morning was an odd time.  I had two different documents to read and sign regarding cancer research, and donating the biopsy so others could use it to ‘gain more understanding’ of Neuroblastoma.  Cancer: I could hardly wrap my brain around those words.  Rhyse’s doctors were assuming he had cancer and someone already wanted a piece for research.

I wanted to keep things as light as possible for the whole family’s’ sake.  Walking around in a trance wouldn’t help anyone, especially not us parents who knew the gravity of the situation.  So with this in mind I decided we would have an hour in the morning where each parent would take a child and do something; an impromptu date. 

I took my six year old daughter, Maggey, out for breakfast and then just drove.  She kept asking me where we were going, and I really didn’t know.  I just picked a direction.  As we were cruising along a familiar route I spotted an estate sale sign.  Being of the frugal sort myself, more forced by financial constraints than anything else, I decided to stop.  I do take great joy in finding that incredible deal for something I really need.  On this day I was not let down.

Somewhere during the week, just a day or two before Rhyse was admitted to the ER and then the hospital, we had a freak wind storm that caused my six person, inexpensive glass, outdoor table to explode into a billion shards of shrapnel.  I had tried a few times to sit on the ground and precariously pick them up, piece by piece. But each time I quit in frustration with the enormity of the job, and with several bleeding fingers.  The only way I could even imagine cleaning the mess up was with a shop vac.  And we didn’t own one. 

To my great delight I found a large shop vac for seven dollars at the estate sale.  However, I was not just excited, I was truly thankful.  The Lord, as always, found the smallest of ways to remind me He’s there—I am not alone, and I am loved.  That small piece of delight carried me through the weekend, serving dinner to extended family on Memorial day, and back into the hospital on Tuesday morning.

Late Monday morning my in-laws had arrived from Indiana to stay with our daughters while we were once again contained in the hospital with Rhyse.  

Thank God for family.

Return to Hospital

Checking back into the hospital is no easy task when you had just checked out three days prior.  Rhyse was frantic and unwilling to be taken out of his stroller, screaming and shaking from fear.  The minute we arrived on the tenth floor he was ready to fight tooth and nail to get back on the elevators.  He pointed at the doors with all he was worth, and it was a wretched feeling pulling him in the opposite direction.

By the time we arrived on the tenth floor the entire staff had heard about Rhyse’s bout with the IVs a few days prior, and everyone was nervous about repeating the incident. I did, however, take great comfort in being on the tenth floor—my ‘second home’ since Rhyse’s birth.  If there’s anywhere in the 12 story building I feel most comfortable and encouraged and loved, it’s on the hematology floor.

After waiting over and hour for any signs of life, Mary and Kris walked into the room, two nurses that have been with Rhyse since birth.  These ladies are fantastic.  But what gave me hope and comfort was their attitude and actions.  They stormed into the room saying, “Mary and I just prayed and asked Jesus to help us get this stick the first time and we believe it!”  Mary is the nurse I had asked for while in the ER, but hadn’t been on shift that day. And would you believe, she did it!  The very first try was successful!  They will never know how much their prayer and their words meant to me.  Those tiny words, “thank you” aren’t nearly enough. A few minutes after the stick, Dr. F walked into the room, Rhyse’s primary hematologist, wrapped me up in her arms and just hugged.  I forced back the tears, thankful that Rhyse had such an incredible team of doctors and nurses.  We were in a holding pattern of complete relief behind one door, or terrifying cancer behind the other; which door would I be thrust through?

After the IV and blood draws Rhyse was admitted to the ninth floor to begin preparation for a biopsy and bone marrow aspiration on Wednesday.  His platelets were at a 12 month low at 53k and he needed at least one transfusion during the night in order to have the surgery. Jon arrived after work and we spent the evening in casual conversation, trying not to focus on the worst.

Late that evening I left for home, leaving Jon to spend the night with Rhyse so I could go home and be with my girls, and get some well overdue sleep.  We both know that sleep deprivation and stress are a lethal combination, so we always make sure we take turns sleeping at the hospital.

On Wednesday morning I returned to the hospital anxious for the surgery to get underway.  Fortunately he was scheduled fairly early so the wait wasn’t too long.  I don’t know much about biopsies and what information the doctors have immediately, and how long it takes to get comprehensive results.  But waiting seems to be the underlayment of our lives with a child who has a genetic mutation.  No fast-food answers, ever.

After a couple of hours we were called into the parent meeting room to meet with Dr. D, the surgeon who had just finished the biopsy.  He handed us a picture of the procedure, and explained that although he didn’t have any immediate answers, neither did he find what he expected.  We were left puzzled by that comment. I stared at the photo page he handed me, trying to figure out if this was a good ‘unexpected’ or a bad ‘unexpected.’

As soon as Rhyse was awake and stable we were escorted back to our room on the tenth floor.  While I concentrated on comforting Rhyse who was in great pain from the three incisions, and add on circumcision we requested, nurses, doctors and surgeons flowed in and out of the room to do their evaluations and vitals.  Apparently while being under the anesthesia some fluid pooled in his lungs and made it difficult for him to breathe. His chest and tummy were thrusting up and down, trying to get enough oxygen to function.  The nurses were very concerned.   Soon the order was given to start him on O2.  Slowly his sats climbed back into the 90s.

As we have experienced in the past, Rhyse’s ability to handle pain is slim to none.  With Rhyse on morphine, and then vicodin, he was slipping in and out of a drug induced stupor. As crazy as it sounds, being partially sedated with pain meds is a blessing after surgery.
Like the previous night, I went home to sleep while Jon remained at the hospital.  My girls need mom just as much as my son so I’m always trying to find that balance during Rhyse’s hospitalizations. 
Thursday morning I arrived to find that Rhyse’s bloods had come back with elevated liver cells, but the bone marrow aspiration was normal: two conflicting results.  Why elevated liver cells?  The doctors never did figure this one out.

Hearing that the bone marrow results were normal was a huge mental relief.  In my mind if the bone marrow wasn’t showing early blasts, then maybe the tumor was going to be benign.  At least that was my hope and my prayer. 

As the mental battle for peace waged on we continued to hold tight for the big results to come in.  Mental pictures of chemo infusions, more surgeries, more biopsies, a port, and more waiting were beating me over the head.  “Take every thought into captivity.” My mantra. My Faith.

When I woke up Friday I was both excited and terrified to know the final results of the biopsy.  The previous week’s emotions had played havoc on my outlook on life, and I needed a peak into hope.  I wanted to put the word, “Neuroblastoma” away forever!  I wanted to go on living with the mundane ER visits, and sickness, and complications; just not cancer!  Selfish? Oh, yea.  There are a few times in life where being selfish is indeed warranted.

Friday afternoon Dr. F, Rhyse’s primary hematologist walked into Rhyse’s room with a big smile. She walked up to me and hugged me and said, “it’s not cancer!”  We don’t know exactly what it is or where it came from or what we are going to do medically going forward, but at least we can tell you what it’s NOT!  She was so excited she asked for the Dr. S’s phone number, Rhyse’s Pediatrician, so she could personally tell her the wonderful news!  When she hung up she said there were tears on the other end of the line.

Jon and I hardly knew how to act.  For seven days our emotions were blasting full steam ahead down a dark, dreary, scary track and back again!  You would think I would have jumped up and down with joy.  But I didn’t. I found that putting my mind in reverse was harder than I anticipated.  I smiled, but my mental anxiety took much longer to dissipate.  I was relieved, but I found myself needing to sort out my emotions one by one before I could fully grasp what I had been told!

For the remainder of the day and into late Saturday afternoon Rhyse was in recovery mode, and so were we!

Rhyse was released Saturday afternoon and suddenly everyday life had to begin where it left off a week earlier.  If there’s such a thing as mental whiplash, that is it! Packing up and leaving the hospital with more medical trauma behind us, more medical jargon learned, physical scars, and emotional scars was once again life changing.  With each new medical issue we confront we increase the foreign language only a few speak: the language of pain and fear, joy and sorrow, blessings and victory—all wrapped up in a child with a syndrome. Maybe I'll call it the Language of Noonans.

Saturday, June 1, 2013

Yesil Cruz--Baby Brother Ivan

My baby brother passed away 18 years ago, when I was 11. I never understood why he was always sick and why such a small baby had to go through so many medical procedures.

Recently, while going through some paperwork, I found an autopsy report and a letter thanking my parents for allowing the autopsy. All this time I thought my baby brother had one purpose in life--to change our lives in some way. But reading that report made me realize he had a bigger purpose in life. Because of him doctors could study this rare condition. So in some way he made a difference not only in our lives, but he also contributed back to society. That was his purpose in life.

I could never thank Dr. Alvaro Galindo enough.  He made things so much easier for us. He was compassionate toward my family.

I didn't know back then what I know now. Ivan was diagnosed with Noonan Syndrome and had gone through surgery the day after he was born. He had an aortic valve graft. He spent most of his days at UCLA. When he got to come home he was always surrounded by home health nurses, and around the clock medications. In two occasions we had to call 911.

At that time we lived near Northridge Hospital. My mom was told that if he was ever to have an emergency Northridge Hospital did not have the necessary equipment to take care of him. The day he passed away I remember my mother was concerned about him because his lips and nails were bluish. And knowing she had no other choice took the next bus available to UCLA. Unfortunately she got there too late. He passed away of a heart attack.

Though there are sad memories there are good ones too. I heard him laugh. I never knew a baby could be so happy and able to smile while still going through all kinds of medical procedures.

I know there’s hope to finding a cure. Maybe God brought him here for the sole purpose of making people more aware of this condition. I didn't know about Noonan Syndrome. I had to do research in order to know what my brother had.

My brother lives in my heart. This is why I decided to contact you to somehow contribute to this cause. I have nothing to offer but my support. I know that many things have changed and the medical field is well advanced now. I never lost hope while Ivan was alive. I still have hope that one day we will be able to find a cure. Ivan changed my life those 5 months he was on earth. Because of him I want to become a registered nurse.

Wednesday, May 1, 2013

Katie Thorstenson--Drew Boo

November 7th, 2011… and I remember it like it was yesterday.  This marks a day that by far was one of the most heart wrenching moments in my life and never before did I ever feel that time just stopped and everything else was moving in slow motion.  Before this date, I honestly didn’t invest much thought into this genetic test because I never thought for a minute something would be “wrong.”  Selfishly, I opted for this test because it was another chance for me to see my beautiful child live on screen…. Little did I even think of what could possibly be wrong…. It couldn’t…. I mean why would it????

We were brought back into the ultrasound room.  I was so anxious and excited to see my little one moving around.  As I laid back on the table, the technician began the ultrasound.  It was honestly surreal to see Jake’s little brother/sister kicking away.  She began to point out different parts of my little one’s body and it was pure joy….. Then, she pointed out what she referred to as a “halo.”  I explicitly remember her saying….  Do you see this????  Foolish me… in the most excited and pure way says YEAHHHH… thinking it was something fun… she then follows up by saying… this shouldn’t be here…. This is fatal…  It was in that moment that time stopped… What do you mean it shouldn’t be there…  Fatal… WHAT????  What does that even mean….   I can still remember that cool feeling take over my body and I am about ready to pass out….  The technician quickly escaped the room to go get the doctor and I began to wail.  I couldn’t do anything but sob…  I had waited for another baby for what seemed like an eternity and after a couple years of trying with a miscarriage… WHY ME???  WHY AGAIN??? 

The time following this a doctor sat us in a consultation room and everything that came out of his mouth seemed so foreign to me at the time.  It was a lot of genetic talks about chromosomes and cystic hygromas, fluid, etc….  Basically, at this point the diagnosis was that my unborn child had a large cystic hygroma developing at the base of his brain.  They described this as often times due to a chromosomal problem and they strongly advised that we do a CVS testing to confirm this finding.  I was heartbroken… My heart had been shattered into thousands of pieces and I didn’t even know how to pick them up.  The suggestions they made to me at the time were absolutely terrifying… 

The next week was a blur.  I was immediately taken in for a CVS testing which would confirm the findings if there was a chromosome abnormality.  I immediately got the FISH results that proved their initial theory wrong… My child didn’t have any chromosome abnormalities….  I waited for the full panel and also showed no abnormalities….  At this point it was when I decided I will leave this in God’s hands.  They had given my child a 5% chance to make it to the 20 week ultrasound….  It was also at this time I decided to find out if it were a boy or a girl…. 

This was the happiest news I had been given to date….  A boy!!!!!!!!!  Drew Michael Thorstenson….  How wonderful did that sound.  I now knew who I was fighting for… A little brother for Jake to love… Another boy to fill this house with his muddy feet… I couldn’t wait!!!!  This little boy was going to be a fighter….

The weeks that followed this time period were grueling… Every day I wondered if I would be able to carry him to term.  If it wasn’t a chromosome abnormality… What was it???  Was it nothing…. Were we all worried for nothing…  The ultrasounds that followed… 14 weeks… 16 weeks…18 weeks…. All were showing a resolving cystic hygroma… It got to the point that it was almost non-existent….  In the meantime… we did opt for a full panel of genetic testing including a test for Noonan’s Syndrome….  Each week… the news kept getting better… It was the day I turned 19 weeks that I received a phone call from the genetic counselors department to change my appointment to another hospital… It was at that point… the last test we were waiting on… I knew it from the minute I heard them on the other line…. My suspicions were confirmed moments later… My baby boy had Noonan’s Syndrome…  I was a wreck again.. The emotional roller coaster that I had been on for 2 months… The ups and downs… Everything again came crashing down…. I felt weak again…. And crushed….

This was the day that forever my life changed…. I was not going to give up on my baby… He deserved every chance and I swore to myself I would become his advocate and learn everything I could about this syndrome so he could have the best chance at anything life wants to throw his way.  I studied…. And hard…. I found every support group that the social media had to offer… I found an amazing community online on Facebook that I will be forever grateful for… I found this special network who was nothing but completely supportive of my situation and sharing stories of their kiddos and some adults and seeing this world I was about to come into.  I would be lying to say I wasn’t scared but if there was one thing I was…it was prepared….  Everybody always uses the word… “normal…” I suppose I don’t like the use of that word anymore… What is “normal.?” I certainly am not “normal…”  And it was then when I coined my favorite phrase… This is my “new normal,” and I was going to embrace the last of this pregnancy with nothing but smiles and anticipation for my beautiful son Drew Michael to enter into this crazy and wonderful world….. He had defied all odds up until this point… He had something to prove… and I couldn’t have been more proud that God chose me as his mommy….. This little being had already changed me…. In ways at the time I couldn’t even begin to comprehend…. And I was excited… Sooo excited….

Part 2
Finding the inner strength you never realized you had…. 

The time was finally upon us… The anticipation of carrying a child with a syndrome that you can’t quite yet grasp was undeniably difficult.  The spectrum for Noonan Syndrome is so large that you truly are unaware of how your child will be affected and there are times that the unknown is a scary place. But with the support and friendships that I had already built proved invaluable….  And truth be told, as I mentioned in Part 1… We chose this…. We left it up to our faith and God who chose us to be this little guy’s mom and dad and that was a deliberate action and I now get it… I might not have at the time, but gosh do I understand why we were chosen NOW!!!!  Our life was forever changed by this amazing little boy who has so much fight, and is such a strong and inspirational little boy. 

I was scheduled for an induction on May 21st, 2012 with the understanding that I would likely give birth to our baby boy sometime on the 22nd. It was such a special day because this is also my mother’s birthday.  My mom is my best friend and I feel so lucky that Drew shares this day with her.  After some long, tortuous hours, it was finally time to have our baby….  Drew Michael Thorstenson was born at 7:20PM…  Shortly thereafter, I went into a state of shock…. All I wanted was to hear him cry and I was so consumed by the emotional roller coaster that we had already been on… I just remember everything flashing by and the anxiety that I had as he was being whisked away by the doctors and nurses. It was one of the most terrifying experiences I had ever encountered…. For fear that I will sound shallow, I was worried as to what he would look like, but more importantly is his heart okay because 80% of Noonan’s kiddos have congenital heart defects.  There was so much emotion built up to this moment I couldn’t even process anything…. I was honestly the most scared I have ever been.  Can I handle this???  Will I be able to tend to his special needs??  So many thoughts and questions that seem so silly now but at the time were so raw and real.

After several hours of recovering I finally was taken in to my recovery room.  Drew Michael was brought in to our room and I just remember gazing into those sweet precious baby blue eyes. I was consumed with pure love and joy and if there was a second I questioned anything, it was that moment that reaffirmed everything.  After some extensive testing, we were surprisingly released from the hospital the normal 2 days later.  His ECG had shown some mild pulmonary stenosis and also an ASD that would be closely monitored by the Lurie Children’s cardiac department and other than that, we were blessed with a wonderful little boy.  

The first few weeks were certainly tough and extremely frustrating from an eating standpoint.  While Drew was born 8lbs 11 oz… he wasn’t in any way shape or form gaining any weight.  Noonan’s kiddos have a tendency to have FTT (Failure to Thrive).  While we understood this a little, it definitely didn’t make us feel that much better.  We really wanted to figure out a way to help him as best as we could. 

It was during a routine ECG when Drew was 2 months old that will forever be etched in my memory.  My sister in law Jackie joined me as these appointments can be quite long. She was there for much needed support to keep me sane.  The appointment was unusually long.  During the ECG the technician saw what appeared to be fluid surrounding Drew’s lungs….  I remember vividly the doctor asking if he had been sick, or anything unusual.  He absolutely wasn’t sick but as a precaution Drew was sent to get a chest x-ray.  Once we did the chest x-ray we went back into our room to wait.  Later the doctor came in to let us know that the preliminary results were negative for plural effusion and pneumonia.  She sent us on our way. It seemed to be a lot of anxiety for nothing. 

While it was a long and emotional appointment, I was glad to have my sister with me and we left the hospital to go hang out with Jakester and my niece and nephew, enjoying the last parts of summer vacation before I had to go back to work…I can remember it like it was yesterday…. My phone rang while I was waiting in the parking lot at Jewel while Jackie ran into grab a few things…. It was Drew’s cardiologist.  The words that came out next seemed like a bad dream… She began to say that I don’t know how to say this but the preliminary findings on Drew’s chest X-ray were incorrect.  We believe that he has a small plural effusion surrounding his lung and we need to admit him immediately down to Lurie Children’s hospital.  TIME STOOD STILL!!!  I hung up and the waterworks began like never before.  I broke down in tears in frustration and just pure anger that this went misdiagnosed… That my emotional state was being tested yet once again…. When my sister in law came back to the car, I don’t believe she knew what could have possibly happened.  I was so distraught and trying to explain to her that there is something seriously wrong with my baby… WHY is this happening????  How could the radiologist miss this???  It all didn’t add up and I was just so incredibly sad and felt so defeated…  I was crushed… 

I composed myself and went back to the hospital to be transported via ambulance down to a place that I had only seen in a magazine, “Lurie Children’s hospital.” They had opened these new doors a little over a month before the date that Drew was admitted…  It was July 24, 2012.  It blows my mind on how my story had just begun the minute that we were rushed into this place…..

This place has forever changed my family and I and has played an instrumental piece in this puzzle I call life….   


The article above was written by a guest blogger. The opinions and ideas written belong solely to the guest blogger. Noonan Syndrome Foundation DOES NOT endorse political candidates and religion or religious preferences.
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