Updated: Aug 20, 2020
Isabella has suffered respiratory issues since she was a toddler. She was frequently diagnosed with croup and upper respiratory infections for the first 3 years of her life. She got her tonsils and adenoids removed and tubes placed in her ears, but she still had trouble breathing and noisy stridor. Once she turned 5, we were told that it can no longer be diagnosed as croup after the age of 5, so she has "asthma." At 9 years old, the “asthma” worsened. Doctors considered her to now “severe asthma”, since the typical asthma medications weren’t working. RED FLAG 1
She had many infections in elementary and middle school. Her pediatrician and ENT put her on antibiotics and steroids nearly every month for an infection. RED FLAG 2
In middle school, she continued having trouble breathing, frequent infections, and plenty of testing, scopes, and scans. She had an awfully distinct cough (sounding like a bark) and extreme shortness of breath. She fell asleep often in classes during middle school and doctors contributed the fatigue due to puberty. RED FLAG 3 (doctors later explained she had constant, severe fatigue because every day was so much work on her body to keep her breathing). She developed epilepsy in middle school, and thankfully that only lasted during her middle school years.
Isabella entered high school most excited to play volleyball the high school team. She played club volleyball in middle school to train her for the high school team. She was running 4+ miles a day, coupled with an intense 3 hour practice and other agility workouts. Isabella was able to play her 9th and 10th grade years. In 10th grade, each practice was getting harder and harder for her to maintain her stamina and could no longer sustain the long practices or run.
As she grew, her symptoms got worse. Age 16 was extremely difficult. Isabella had audible stridor and constant respiratory infections. She was rushed to the ER every week for nearly 2 months due to not being able to breathe. She was diagnosed with paradoxial Vocal Cord Dysfunction (VCD). This means both her vocal cords shut instead of open to allow her to breathe. They thought the stridor was coming from the VCD at this time. Isabella underwent speech therapy to control the VCD with breathing techniques in 2016. However, after 9 months of speech therapy, techniques were not helping this stridor. Her parents searched for the best speech therapists and doctors around, driving her an hour each way to speech appointments. In November 2017, to search for relieve of VCD, the Laryngologist injected Botox into one vocal cord to paralyze it. When it didn’t make a difference, two months later, she did it again in the other vocal cord. Isabella had extreme dyspnea and no voice as a result for a few months. She also under went several allergy tests and appointments with gastroenterologists searching for answers.
Meanwhile, she was constantly in the hospital with respiratory distress, stridor, and infections. Every day was a struggle to breathe. She complained of feeling like someone was “squeezing her airways” and an “elephant was sitting on her chest”. In the meantime, her pulmonologist at the time refused to see her and claimed she was “making this up, doing this for attention, and had anxiety”. After going through a psychiatric evaluation, the eval revealed no signs of anxiety. Every specialist wanted a bronchoscopy done, however the pulmonologist refused to do one since he was adamant it would only show asthma. She was also tested for Cystic Fibrosis, which was negative. Doctors were perplexed how she could "look" healthy but experience intense breathing struggles daily.
She finally got a bronchoscopy done after 4 months of fighting for it. In fact, there was an indication to get a CT from tracheal compression. We got the CT and went to the Chief of Cardiothoracic surgery at our local Children’s hospital. The cardiothoracic surgeon told us that Isabella’s innominate artery was compressing her trachea, but this alone wouldn't fix the issue. She would need a multidisciplinary team that he could not offer. Most importantly, he was the first person diagnose Isabella with Straight Spine Syndrome. Her spine lacks all curvature and is totally straight. This is extremely rare and makes it harder to breathe because there is less space in her chest cavity. The lack of curvature causes an extremely small thoracic cavity, lack of expansion, and tracheal compression. We were left with some answers, but still no treatment options.
After reading the radiologist report at home one day, the report said “probable tracheobronchomalacia”. No one had ever mentioned it, but after her parents researched it for days, it appeared Dr. Jennings and Boston Children’s Hospital was the only resource. Isabella had every symptom of TBM. That same day, we put in an online request for a second opinion at Boston Children’s. Within days, we got a phone call saying they could help and to set up the initial consults.
In Boston, at the age of 17, Isabella was diagnosed with Tracheomalacia, Innominate Artery Syndrome, and it came to our attention that sternum was “falling” into her chest (hence the elephant sitting on her chest feeling). She had only 6% airflow on a “healthy” day. The innominate artery was wrapped around the trachea like snake (hence the “someone is squeezing my airways” feeling).
The Esophageal & Airway team, ortho, cardio, and plastics created a plan to help. First, tissue expanders were placed over a time period of 6 months to generate tissue and muscle for the airway reconstruction surgery coming up. Tissue expanders also helped to create a "prettier" scar. She got the tissue expanders filled 2x a week. The airway reconstruction consisted of a sternotomy, aortopexy, posterior and anterior tracheopexy, thymectomy, clavical reconstruction, rib expansion, and sternal reconstruction.
2 years later, Isabella has not had stridor, has greater lung expansion, and has an amazing local pulmonologist. She is a sophomore in college and enjoys long walks, attending college football games, and workout classes. She aspires to be a doctor. She does have new areas of bronchomalacia we are working on and controlling. We are so grateful for her DREAM TEAM at Boston Children’s along with the resources and support from Jennifer Champy and CureTBM!
She finds relief of her nerve, spinal, and other pain through:
Acupuncture, administered by an anesthesiologist at the Children's Hospital
Myofascial release physical therapy at the Children's Hospital
BiPap machine for sleeping at night
The biggest thing that we have learned is that you have to be your own advocate. With more awareness, funding, and research, we hope other people can receive the diagnosis and treatment they need!