• Cure TBM

Isabella's Story

Isabella’s story began when she was a toddler frequently diagnosed with croup and upper respiratory infection 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 and got diagnosed with “severe asthma”, since the typical asthma meds weren’t working... RED FLAG*

She continued having trouble breathing, frequent infections, and plenty of testing, scopes, and scans. She had an awful distinct cough and extreme shortness of breath.

As she grew, her symptoms got worse. Age 16 was extremely difficult. Isabella had audible stridor and constant respiratory infections. She was constantly sick and we were in the ER more than a dozen times in 2 months and admissions in between. She had Vocal Cord Dysfunction (VCD) and they thought the stridor was coming from the VCD at this time. Isabella underwent speech therapy to control the VCD with breathing techniques previously in 2016. However, techniques were not helping this stridor. We went to the best speech therapists and doctors around. It came to the point where the Laryngologist injected Botox into one vocal cord to paralyze it. When it didn’t make a difference, two months later, we did it again in the other vocal cord. Isabella had extreme dyspnea and no voice as a result.

She was still in the hospital with respiratory distress, stridor, and infections. 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 an anxiety consult, there were no signs of anxiety. Every specialist wanted a bronchoscopy done, however the pulmonologist refused to do one since he thought it would just show asthma.

We 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 would fix the issue. We would need a multidisciplinary team that he could not offer. Most importantly, he was the first person to look at her CT and diagnose Isabella with Straight Spine Syndrome. Her spine lacks all curvature and is totally straight. This is extremely rare. 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 reading it and researching about it, 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 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 as well (hence the “someone is squeezing my airways” feeling).

The EAT team, ortho, cardio, and plastics came up with a plan to help. First, tissue expanders were placed to generate tissue and muscle for the airway reconstruction surgery coming up. 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.

Post-op, Isabella has not had stridor, has greater lung expansion, and has an amazing local pulmonologist. 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 and the resources and support from the CureTBM foundation!

The biggest thing that we have learned is that you have to be your own advocate. While no one locally diagnosed Isabella with TBM, reading the radiology report and acting on the two words: “probable tracheobronchomalacia” changed our lives. With more awareness, funding, and research, we hope other patients can receive the diagnosis and treatment they need!

#patientstory #pediatricpatient


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