Quinn’s Type 1 Cleft Journey
By Amanda Russ
Hi, I’m Amanda. Professionally, I am a labor/delivery and newborn nurse and Internationally Board Certified Lactation Consultant, but my favorite job is mom to my five girls. Our youngest daughter, Quinn, was born in December of 2022 at the hospital where I work in West Michigan. She was full term with no complications, and we anticipated she would have a healthy newborn course like her big sisters.
At four weeks old, I noticed that Quinn began to have a cough that would come and go all day long. I blamed it on winter germs that her big sisters brought home from school and didn’t think much of it.
Two weeks later we had a well-child appointment with Quinn’s pediatrician. Both her pediatrician and I were alarmed when her weight at six weeks old was below her birth weight. She had dropped from the 79th to the 2nd percentile. The doctor ran some bloodwork to check labs and thyroid function, all of which came back normal. The pediatrician attributed the ongoing cough to reflux. We were encouraged to closely track her feedings, and I switched to exclusively pumping and feeding and measuring her intake and output.
Being a lactation consultant, I have significant knowledge around breastfeeding and infant feeding and I knew based on the amount of breastmilk Quinn was taking in, that she shouldn’t be losing weight. Yet she was constantly fussy and irritable, and her weight gain continued to be very slow. She would cry for hours on end each day almost inconsolably. My husband and I would often lay her in her crib during dinnertime while she screamed, just so we could get a quick 20-minute meal with our older children. Our other girls had been mostly happy, easy-going babies, and we were at a complete loss on what to do with Quinn.
The following week, Quinn had an episode of apnea, and with her continued poor weight gain, we brought her to our children’s hospital emergency department. We explained to them that she was constantly crying – no matter what we tried. All of our concerns were brushed off as normal “complications” of newborns and we were told she may just be a colicky baby. Even our children’s hospital wasn’t overly concerned about her weight loss.
Being a health care provider and lactation consultant, I tried to advocate for her as best I could, but felt I was dismissed time and time again. We returned to the emergency department a few weeks later for abnormal blood work and bloody stool, which we later learned was due to a milk protein allergy. We were again dismissed for our additional concerns and left the emergency department without a medical diagnosis, but rather a diagnosis of “parental concern about child.”
I was still on maternity leave at this time but reached out to several of the pediatric hospitalists at my community hospital. They shared my degree of concern and encouraged me to get a second opinion from another provider.
We finally got in to see a new primary pediatrician. Since the reflux medications were not improving the cough and extreme irritability, the new pediatrician ordered an echocardiogram, head ultrasound and swallow study. The swallow study at four months old gave us partial answers – Quinn had severe dysphagia and it was immediately recommended she be on honey-thick liquids. She also started seeing a speech-language pathologist.
We had hopes that this would be a temporary journey, but this has proven to be a much longer road than we had initially anticipated. We’ve seen five different ENT providers for different opinions along the way. Our initial provider diagnosed laryngomalacia but couldn’t repair it. Her second ENT required us to do six months of feeding therapy before agreeing to a sedated laryngoscopy. We did not see any improvement in her dysphagia after feeding therapy and so we went ahead with the laryngoscopy. During this scope she was also diagnosed with tracheomalacia and a type 1 laryngeal cleft.
In April 2024, Quinn had a supraglottoplasty, arytenoidectomy and cleft injection. We saw little improvement from the injection and pushed for a stitch repair for her cleft. Her previous surgeon did not feel that a stitch repair would benefit Quinn, but we felt it was worth a shot. It took three more asks and traveling out of town to finally find a surgeon willing to do the stitch repair, which was done in November 2024. The stitch repair provided minimal, if any, improvement to her swallow dysfunction, but we were glad to have at least attempted it. We also replaced her ear tubes during this procedure. Quinn currently continues on a honey-thick liquid diet.
Along the way, we’ve ruled out other causes of her ongoing dysphagia, including an echocardiogram to look for cardiac anomalies, an esophagram to rule out any sort of compression, a brain MRI to check for a Chiari malformation, an EGD with biopsies to rule out EoE, and a 24-hour pH impedance probe. Quinn has also had a sleep study, a FEES, five video swallow studies, two 12-week sessions of NMES (vital stimulation) therapy, 18-plus months of weekly feeding therapy and we’re anticipating a fourth set of ear tubes this year.
At 27 months old, Quinn continues to see ENT, pulmonology and speech therapy regularly. It took an immense amount of advocating to get to her diagnosis, which isn’t uncommon for airway kids. She’s been seen by almost every specialist, including nephrology due to urine crystals caused by dehydration, allergy due to the blood in her stool, hematology/oncology for anemia, and neurodevelopmental/peds surgery to consult for a G-tube, which thankfully we’ve been able to avoid.
Our journey is far from over as we are currently working our way through a systematic thickener weaning protocol. We have seen fairly slow progress thus far, but we are so thankful to have found the Laryngeal Cleft Network and this online support community. We are also hopeful for the research being performed by the CARE Study and have found additional resources from Coping With Laryngomalacia and Rare Science. These groups gave me the confidence to push back and speak up when we felt like we weren’t being heard and helped guide us to find the providers and services that Quinn needed!