Oh where do I begin with this little one?
She has been unpredictable from the very beginning – showing up as two little lines to a VERY shocked me, who was, at the time, still nursing my darling 7 month old at the time (affectionately known as Hurricane Kaylen). So, apparently you CAN get pregnant while breastfeeding. Just FYI.
Pregnancy with Kendall was not as breezy as with the others, and towards the end she definitely started to show signs of her penchant for all things medical as I was being sent over to L&D for monitoring after just about every weekly appointment – pre-eclampsia, kidney infections, UTI’s – all that fun stuff. Since we really never knew exactly when she was conceived, and our best guesses were based off of how she was growing on ultrasounds, it was a non-stop carousel of fun! At the time, Ben was working like a mad dog trying to get all his travel for the YEAR done in about a three month span so that he could be home during November and December as we adjusted to life with a fourth baby! We were so excited to be welcoming a fourth little girl into our girl filled clan, but had THE HARDEST TIME coming up with ANOTHER “K” name. We didn’t want her to be left out if she didn’t have a K name, but nothing really seemed to fit. About three weeks before she was born, we finally decided on her name – Kendall Quinn. As we were meandering the babyname bookshelves at Barnes and Noble one rare date nite, we looked up the meaning, and a derivative of the name Quinn meant “strong leader”. I loved the name even more at that moment. Little did I know how very much her name would come to mean in the weeks ahead, as her full name means “Strong Leader in the Valley”. What a valley we were about to enter.
She arrived into the world on a Friday, her Poppa’s birthday, the 14th of November after a very longgggg nite of disturbing issues that landed me in the hospital for monitoring. Thursday evening, my mom had come down, and we went to get pedicures, and I was having contractions throughout that time, and was just delirious with something by the time we got home. Ben packed me up and off to the hospital we headed where it was found that I was dehydrated and in need of fluids at the very least. i have never in my life had an IV, and i was the world’s hugest baby about getting one in. Oh if only I had known how many IV’s would become part of our lives! anyways, the full birth story is HERE at this post.
I was not able to hold her for almost 24 hours. She was taken immediately to the NICU and placed on a bi-pap machine to attempt to slow down her heart and lungs which were working overtime for some unknown reason. We were completely and utterly unprepared to have a baby with life-threatening issues. We were thrust into the world of living in the NICU, and adjusting to new terminology, and splitting our time between our three healthy babies at home and the one who desperately needed our attention and love in the hospital. She was able to come home after 12 VERY LONG days. We were sent home with a baby who still had issues eating, but in my naivete, I thought that if I could just get her out of that place, and start her breastfeeding, that all would be well and we would put those issues behind us. The NICU team gave us no real answers about what had happened, nor were they very inclined to look for any answers. we left thinking it had been just a bad run of luck for Kendall and hoped that that was the end of that.
Two and a half months later, our lives were turned upside down again when Kendall was whisked from my arms to a waiting ambulance at her pediatrician’s office due to respiratory distress. I had called because she had what I thought was a cold, and by the time I walked around the desk from check-in back to the room, they had already called 911 and were admitting her. She was supposed to go to our doctor’s hospital, but the EMT told her that she would’nt make it that far and they had to take her to the nearest facility, which ended up being the hospital she was born in. I was there with Kaylen and Kendall and they took Kendall and i had to watch her leave in an ambulance with strangers working to keep her breathing while I was left to figure out who to call and how to get the other two picked up from their two different schools and get to the hospital to be with kendall. It was a blur. A horrible blur. And thus began phase 2 of our journey.
kendall was inpatient for 11 days at that time, diagnosed with RSV, which turned into pneumonia, which turned into uro-sepsis (a bad infection throughout her system). It was during this stay (actually she got transferred to a children’s center farther away from home – another fun ambulance ride!) – that we met the doctor who would help us learn to fight for answers for Kendall, learn to trust our own instincts, and learn to keep asking questions. He was a pulmonologist, Dr. A, a kindhearted man with a softspoken accented voice and a keen eye for knowing when to worry and when to ride it out. He began the arduous process of sorting through Kendall’s many issues at the time, and figuring out which were acute (short-term) and which were chronic (long-term). We had specialist after specialist coming through the door of that room during that stay, and we ultimately walked away with the knowledge that :
1.) She clearly had a lung “disease” of some kind, which for now we are calling RAD (reactive airway disease)/asthma, exacerbated by pretty much everything.
2.) She was clearly failure to thrive. Something in her system was not using the food we were giving her for growth or energy.
3.) As part of her failure to thrive, we assessed that she was aspirating nearly every swallow of food, and what she didn’t aspirate she was refluxing back up. It would appear that due to this she had been in a state of congenital pneumonia almost since birth. The technical term for this was ” dysphagia”, which led to “chronic aspiration pneumonia”.
4.) She was very hypotonic – “floppy baby”. We had a team of neurologists assessing whether this was due to her lack of nutrition, whether it was benign in nature, or whether it was indicative of a muscular, neurologic, or neuromuscular origin. the Jury is still out on this one – but we were able to rule out a LOT of bad stuff with a “relatively normal” MRI of her brain as well as a few blood tests. I think she really had a few folks worried with this one, given her other issues. There was talk about doing the muscle biopsy during this first stay, but I think everyone was afraid of what would happen if she had to go under anesthesia in her very weakened state. As the meds began to help her other systems improve, everyone breathed a sigh of relief that the hypotonia seemed to be either muscular or benign in origin, hopefully the latter.
5.) She was diagnosed with a few minor heart defects – Patent Ductus Arteriosus (an extra valve that everyone has, but most people’s close on their own within hours of birth), an aberrant subclavian artery/aortic arch (which isn’t so much a functional defect as it just means it gets in the way of other things – like her esophagus – hence the dysphagia), and some mild enlargement – due to her lungs having to work so hard to get rid of all that fluid.
6.) Infectious Disease doctors began testing for a possible immunological deficiency, given all that she was dealing with and the fact that she, at the time, was getting more sick with the meds, not responding to them.
7.) A nephrologist was consulted about the fact that Kendall has “hydronephrosis”, which just means that her kidneys are slightly enlarged because they like to occasionally hold onto fluid.Then they let it all go at once. then they decide to just stop working for a while, and then they wake up from their nap and start working just fine. The Nephro had no real answers to this.
8.) Her GI tract seems to also follow suit with her kidneys. Some days it works right, other days it doesn’t. We began the rigamarole of multiple GI’s with this visit, everyone with a different opinion, everyone hoping someone else would tie it all together for us. clearly she had the bad acid reflux, vomiting, and aspiration, along with the Failure to Thrive. but why couldn’t she poop like a normal baby? why can’t she absorb food like a normal baby? Again – we’re still waiting for the jury on this one!
We were discharged home with a tube-fed baby (NasoGastric tube through her nose into her stomach), told to not give her anything by mouth, started on about 8 meds with varying dosing times, and she also had a PICC line inserted (a semi-permanent IV into one of her main arteries) so that we could continue giving IV meds for the sepsis infection at home. Without that, we would have been there for another 11 days. as it turns out, that might not have been such a bad idea considering we were BACK in the hospital less than four weeks later.
more pneumonia. Apparently from vomiting it UP this time, as we knew she wasn’t swallowing anything down. This time her gut shut WAY down, and things got real bad pretty fast GI-wise. We got NO help in that hospital. And in spite of Dr. A wanting to transfer us to another hospital, I knew we all needed a break. i asked him to please discharge us and that I would find a GI on my own! So he did, and I started my search for SOMEONE who could help us figure this kid’s GI tract out!
Around this time (April 2009), we started therapy services through our state’s Early Intervention program. Kendall was assessed to be at the developmental age of a 2 week old newborn. She was almost 6 months at the time. that was a heartbreaking blow to hear, although in our hearts we knew she was struggling. But through it all, she kept a smile on her face! she has always, always been the most happy baby. We also started “vitalstim therapy” at this time, which is placing electrodes on Kendall’s esophagus to try to stimulate the muscles to learn how to swallow. She was still 100% NG tube fed at this time, vomiting all the time, having massive pain cycles originating with feeds, and in general, just a mess. It was a very very tough time, i daresay almost dark. It was hard to keep the faith that we would never know anything different than hospitals and specialists, and a hurting baby, and tubes in her nose. No one could tell us when she might be off the tube, but no one could tell us what plan B was either. She stumped everyone who came into contact with her.
In May we finally found a GI who GOT IT, and started to finally take a harder look at what was going on with Kendall’s system, instead of just throwing more meds or different formulas at her. He did try different formulas, but he was very methodical and open in his approach, knowing just what he was looking to see with any reactions she might have. And react she did! She has officially tried every commercially available formula –
- Milk Based = instantaneous vomiting. We didn’t try this for too long!
- Nutramigen = slowed the vomiting down, caused massive malabsorption issues
- Nutramigen with MCT oil added = all hell broke loose. Stomach completely paralyzed, massive pain, and still no weight gain.
- Neocate = allergic reaction with hives and shallow breathing. No weight gain.
- Elecare = instantaneous diarrhea
- Pregestimil = diarrhea, less cramping, but more mucus.
- Nutramigen AA = still not perfect, but finally gaining weight on it and less mucus than anything else!
One week before we were scheduled for a scope (FINALLY! A test to look at the INSIDE of kendall’s system to see what was going on!), she ended up being admitted again for complications from a pneumonia she had had a few weeks ago that we never really treated aggressively enough. Well, pneumonia in the sense that she had aspirated again after having what we now know was very bad metabolic decompensation on a weekend late in May where we were outside in the heat and humidity (as it tends to get here in Chicago in the summers!). Essentially her body became very dehydrated very quickly, although we had no clue what was going on at the time, we just put more pedialyte through her NG tube, let her sleep for about 8 hours and tried to cool her off and clean up the steady stream of horrific vomit. So she endured the complications of that for about 2 weeks before one day just stopping eating altogether and having increased vomiting. Dr. A once again came to the rescue, admitted her, treated her lung infection aggressively and called surgery on his own. This miffed the GI’s at the hospital, and I hear became quite the 2Center gossip (our floor at the hospital), but it was THE BEST THING that could have happened for Kendall, for our family. We were all at wit’s end by that point. No one was sleeping because Kendall wasn’t sleeping. We were all on edge because Kendall was in pain and no one knew how to help her or stop the pain.
The surgeons there were absolute angels. They were the first ones to REALLY hear us on the fact that Kendall was having LOTS of issues that needed LOTS of help, but first of all we had to get her nutritional status up. She was scheduled for a G-tube placement (gastrostomy – tube inserted through the abdominal wall into the stomach for feedings), a Nissen fundoplication (the esophagus is pulled around and wrapped around the top of the stomach (fundus) so that it is next to impossible to vomit or burp, and therefore reflux all of one’s food into their lungs as Kendall has a penchant for doing), a muscle biopsy and a rectal biopsy (sections of tissue taken from her calf muscle and her rectum to test for specific diseases or defects which would help lead us in the direction of a diagnosis).
After a semi-bumpy recovery, Kendall was discharged on G-tube feedings, and was a MUCH happier baby! Finally! We were getting somewhere! We still had to spend the rest of the summer packing her in ice packs/cold, wet towels if she was going to be outside for more than a few minutes (and that was just to lay in her stroller being transported from point A to point B!), but she started making huge strides forward from that surgery on. She pulled her tube out (balloon still completely intact and full!) ten days later, and from there on she kept up a nice stream of near-constant tube yanking! We became pro’s at replacing G-tubes on the fly, became used to the daily grind of mixing formula into bags, fixing alarming pumps, burping our baby with a tube connected to a plastic button in her tummy and all the other fun things that come with tube-fed babies!
At the end of July we were finally sat down by our GI and pulmo and told that it was time to get better help for Kendall, that she was definitely exhibiting signs of a metabolic disorder of some nature. We heard “mitochondrial disorder” a lot more around this time, and were referred up to Children’s Hospital of Wisconsin to seek further care for Kendall. By the grace of God, we were able to get a quick appt with a GI up there. I was SO wanting him to walk in and just FIX kendall with one wave of a magic wand – or at LEAST to not dismiss us offhandedly and give us another med! And I went prepared with all my charts and posters and lab work organized in our big binder….and I thought he was going to do it to us again. But we quickly realized he was just deep in thought. Dr. N was another angel in Kendall’s journey, and he referred us very quickly to genetics, endocrinology, allergy/immunology, and neurology when some bloodwork of Kendall’s came back wonky (yet again!)
While Genetics was running more bloodwork, Kendall ended up inpatient again with one of her worst crises to date. We now know it was a metabolic decompensation due to hypoglycemia/dehydration when she yanked her tube out in the middle of the nite and it wasn’t caught until her stoma (hole in her stomach that the tube goes through normally) had started to close. We came very very close to losing her during this admission, and the doctors had no clue how to help her. God definitely had His hand on her that nite, even as one of the docs came in to tell us that her kidney and liver were beginning to shut down and if we couldn’t “wake them up” soon, she was going to be in big trouble. With a lot of prayer, Kendall started to turn around, and was a completely different baby within 3 days. We went back to the drawing board with Genetics with this new info.
This led us down our current path.
Genetics also was at first relatively dismissive of Kendall, but when even more bloodwork came back showing elevations in certain acids and proteins that we had been seeing all along, they started taking us seriously VERY quickly.
In November, 2 weeks before Kendall turned 1, we received a tentative diagnosis of
Methylmalonic Acidemia (an inborn error of metabolism), with secondary mitochondrial dysfunction. Even with that, they still had to rule out one other forerunning diagnosis, that of a genetic disease known as a Mitochondrial Depletion Syndrome, specifically SUCLA2. We recieved the news a few weeks later that Kendall did have an unknown variation on that gene, but that it did not appear that she had the known life-shortening version of SUCLA2.
Kendall has continued to have issues from that point on – ending up in the ER with myoglobinuria due to rhabdomyolysis (her muscles were eating themselves in an attempt to find oxygen/energy and this caused her urine to turn a lovely shade of crimson), multiple ER trips for more yanked tubes that would not go back in, and just in general a lot of days of worrying over WHAT her body is doing and if it’s time to make the call to take her back to the hospital or not.
She has continued to stump her doctors with her many multiple issues, affecting seemingly random and unrelated systems in her body with little to no rhyme or reason! We continue to wait for results of her muscle biopsy (going on 8 months now!) to tell us if we may be dealing with a primary mitochondrial defect. As this would not be a happy diagnosis (there is no “cure” for mito, and treatments are aimed at trying to conserve as much function and energy as possible in critical body systems) – i have not really addressed it much on the blog. It is the proverbial “elephant in the room” that no one really wants to talk about. pretend like it’s not there, and then we don’t have to talk about it. If it turns out that this is what kendall’s diagnosis is, i will certainly post as much info as i can, to help our family and friends better understand why kendall can look so healthy one day and be inpatient on oxygen a few days later.
It is a pretty big front runner right now, and preliminary testing points toward at best a large lack of good function in her mitochondria, but I am just not ready to go there yet.
In February of 2010, Kendall had her g-tube switched out for a gj-tube – meaning that the majority of her feeds every day will be pumped into her intestines – allowing her stomach to get more rest so it has energy to deal with the small amount of calories Kendall can (and loves!) take in orally. She was also hospitalized again in February because a virus she had been fighting since Thanksgiving was just not giving up the fight, and she was getting more tired and more unable to keep her airway clear at nite. 2 rounds of antibiotics and oral steroids were not making a dent in the respiratory symptoms she was fighting, so she was admitted for IV antibiotics and steroids to give her system a boost. We are unsure right now if this antibiotic we were using orally was ineffective for THIS particular illness, or if she has become resistant to omnicef altogether already, or if its just her gut’s inability to absorb and properly process the antibiotic that got us to this point.
No one has any answers. Story of the poor girl’s life!
And so we try to take it day by day. Trying to not worry too much about the crazy things her system sometimes does, and yet not wanting to ignore the signals her body does give us that she needs the support and help of an inpatient admission.
I do not know what God’s plans for kendall are. I do know that he has used her and her story to touch the lives of people I would never DREAM of being able to reach. She is an amazing adorable and altogether beautiful little baby who I am honored to call mine.
We thank you so much for stopping by to learn more about her, pray for her, or whatever reason led you here!