Make A Child Smile

Maegan's Story
written by mom Doreen

Maegan was born on June 20, 1996, five weeks early. She weighed 6 pounds, 3 ounces and was 17 ½ inches long.

When Maegan was 6 weeks old she was diagnosed with severe GERD (gastroesophageal reflux disease). Maegan had RSV (Respiratory Syncytial Virus) when she was 5 months old and was treated with Albuterol nebulizers and antibiotics. When she was 6 months old, the pediatric gastroenterologist felt the Maegan had outgrown the GERD and the medication was stopped.

Aside from colds, an occasional ear infection and chicken pox (seven months old), Maegan was healthy. When Maegan was 7, she had pneumonia and mononucleosis. Recovery took about 8 weeks.

In the fall of 2006, at the age of 10, Maegan’s health began to decline. In October, she experienced stomach aches and vomiting in the middle of the night (she wouldn’t wake up, she would just throw up).

December began and the headaches continued. A CT-scan was ordered. On December 12th, she was diagnosed with a sinus infection. That is what the CT-scan showed. On the 20th, Maegan came home from school complaining that she didn’t feel good. I told her to go in and lay down. I called the pediatrician’s office and the nurse said there were a lot of “viruses” going around and we should give it a few days. I did manage to get an appointment.

When Maegan got to the office, her oxygen saturation rate was 94%. Maegan had two nebulizer treatments in the office. Antibiotics, an oral steroid and an albuterol inhaler were prescribed. Two days later she started using a nebulizer every 4 hours. Maegan got better, but the cough lingered. Finally the cough subsided, but only for a couple of weeks. Then it again, came back and then subsided. In April, 2007, Maegan had a chest x-ray. This was normal. However, the cough remained.

In June, Maegan was prescribed Singular. We thought this all could be allergy related. On June 16th, Maegan complained that she didn’t feel good. I took her temperature and it was 103. We gave her medication to bring the temp down. A few days later, she felt much better.

I drove Maegan to school and told the secretary to call me if Maegan came in saying she didn’t feel well. She wanted us to see the school nurse. She listened to Maegan’s lungs. Her words were: “get her to your doctor’s office immediately”.

We arrived at the pediatrician’s office and Maegan vomited in the parking lot. Once in the office the nurse took her temperature, and got Maegan’s oxygen saturation level which was only 89%. They gave Maegan three albuterol treatments and with no improvement Maegan needed to go to the hospital. An ambulance was called and she was rushed to Milford Medical Center.

Upon arrival, the ER doctor sent Maegan for a chest x-ray. Maegan was diagnosed with bilateral pneumonia and was admitted to the hospital. Maegan spent her 11th birthday in the hospital. Maegan was released on the 21st with a diagnosis of asthma. It was felt that because Maegan was not being treated for asthma that the pneumonia developed. We then made an appointment with a pediatric pulmonologist who felt that Maegan had GERD. He felt that she was aspirating into her lungs which is common with mid and lower lobe pneumonia which Maegan had. Two weeks later, there was mild improvement, but then, at the end of August, Maegan was diagnosed with bilateral pneumonia again.

In September 2007, Maegan had a bronchoscopy. The cultures that were taken, came back showing several different forms of bacteria. The biopsies came back showing no ciliary defects and the PH study for gastroesphageal reflux came back showing severe reflux.

On Tuesday, October 16th, my cell phone rang at 8:04 am. It was Dr. Harnick from MEEI. There had been an addendum to the original testing. The addendum diagnosed Atypical Cystic Fibrosis. Further testing was done and only one gene could be identified. It is felt that the other gene has not yet been discovered.

As November began, Maegan was getting worse. Finally on the 29th, she was admitted to Mass General. Maegan was placed in Isolation. She would spend nine days there and had a PICC line placed, which was a traumatizing experience. She took IV antibiotics until the 24th of December and finally showed improvement.

When Maegan’s health began to decline and she was hospitalized again, Dr. Dorkin felt that she might have Primary Ciliary Dyskinesia (PCD), so he began the process of getting Maegan accepted into the research study.

In March 2008, we received the call that Maegan had been accepted into the PCD study. We flew to North Caroline on April 2nd. We were fortunate enough to be able to stay at the Ronald McDonald House in Chapel Hill. The study began with questions, blood tests, Pulmonary Function Tests, Nitric Oxide measurement and a nasal scrapping for a biopsy. It takes months to get the results of the biopsy. Maegan’s Nitric Oxide measurement was a 9. Normal is around 300. Individual’s with a NO measurement of less that 60 are usually individuals with PCD. Based on Maegan’s NO measurement she was diagnosed with PCD. Dr. Leigh invited Maegan to participate in the Longitudinal Study.

In September, Maegan’s lung sounds began to change. She was diagnosed with bi-lateral pneumonia. She began taking Zyvox. Maegan began to improve, but then on the 22nd her lung sounds were “different”. Maegan was taken by ambulance from school to Milford Hospital and then transferred to Mass General. Maegan spent four days inpatient. A chest CT-scan was done and showed bronchiectasis (permanent lung damage) in the both lower lobes and in the middle right lobe.

Maegan has to do nebulizer and airway clearance treatments 3 times a day. She does two at home and one at school. She must get up by 5:30am to do her treatment because it takes almost an hour to do. The evening treatment is usually done at 7:00. Maegan is in bed by 8:30. She also has to do a treatment at school. That is the toughest one. It takes her away from lunch, and being a middle schooler, that is the only “social” time they get during the day. It also causes her to miss part of her math class, so Maegan is always trying to stay caught up.

Maegan plays soccer which she was encouraged to do by her doctors. Any vigorous activity helps to clear her airways. She will run track during the winter. We are not sure yet what sport she will play in the spring. However, when Maegan is on IV meds (she has a port-a-cath), she cannot participate in team sports.

The progression of Maegan’s disease is unknown. Her doctor’s goal is to slow down the progression of the bronchiectasis. (Severe bronchiectasis can lead to lung transplant.) Maegan is treated aggressively with both IV and oral antibiotics. Maegan’s doctors do the best they can to treat her, however there are currently only two known cases of PCD in Massachusetts; Maegan is one of those cases.

Maegan’s illness has been very hard for her. Until December 2006, Maegan was a healthy, typical kid. She hates that she can’t run like she used to. She becomes out of breath and coughs constantly. She hates being hospitalized and spending so much time at doctor’s offices. Maegan wishes she could have “her life back”. She doesn't like that her friends feel bad for her, and kids that don't know her make fun of her for coughing.

It breaks our hearts as parents to watch her go through all of this. We do all we can to ensure that she has as “normal” a childhood as possible.

Thank you for taking the time to read about Maegan and be part of her life!

(Story and Interests were last updated November, 2008)