Ok… So i’ll attempt to share my story the best I can…
I was born in 1967, a healthy baby girl. No medical problems, lived a normal childhood.
When I was in 3rd grade, I had my first pneumonia, missed one month of school, and recovered.
When I was in 6th grade, I had my 2nd pneumonia, and again recovered.
When I was in 9th grade, my 3rd pneumonia, suspicion began.
This is when I went to a pulmonary specialist at Columbia Presbyterian Hospital, Dr Celia Orez. She suspected Cystic Fibrosis, however, at the time the only test available was the sweat test. People with CF secrete an excess amount of salt in their sweat. This is the basic defect – the salt/water exchange in the lungs is off – therefore causing thick sticky mucus to build up and cause infections. Well, my sweat test was negative. The doctor put me in the hospital for 2 weeks – placing me on high salt diets, low salt diets, repeating sweat tests, and could not get a positive result. She then sent me to a world famous CF Specialist in Boston, Dr Schwachman. He met with me and my family, tok tests, reviewed my charts, and concluded that I did not have CF.
This was such a relief to me and my family, especially since at that time, the chances of living past my teenage years were slim.
After this point, I did begin with a persistent cough. I was never free from it, but it did not impact my life. I was diagnosed with bronchiectasis (a sort of chronic bronchitis) and was being followed up with at Westchester Medical Center by a pulmonologist.
So the years go by, and I get married in the Summer of 1990. Prior to the wedding I began to feel a pain in my back with some shortness of breath, but just brushed it away. Once we were in Hawaii, my back pain worsened as well as my breathing. We missed a boat ride because I couldn’t make it to the boat. We went to a hike, and my husband had to physically carry me on his back to make it up the “100 steps”. I could not submerge myself in water because my breathing would worsen. But we had the times of our lives!
A month after we got back, I was at work and the pain had gotten so bad, as well as the breathing. So, I went to the emergency room at Westchester Medical. They determined I had a partial lung collapse on my left side. They said they would insert a portable chest tube, I would be able to go home, return in a few days, and have it removed. Well – not so simple. During the procedure, I seized, and they had to insert the ‘real’ chest tube and I was hospitalized for a few days. The chest tube was very painful, and they had me on morphine.
I felt much better after this and all was fine.
Then in February of 1991, I had a severe hemoptysis episode – coughing up cupfuls of blood. They did a bronchoscopy (very painful), but could not find the source of the bleeding. I took antibiotics and recovered fine.
I forgot to mention that prior to my wedding, I lost 25-30 pounds, without trying. I was seeing a GI who diagnosed me with intestinal fermentation???? Gave me a load of pills, but never gained weight. I was 103 on my wedding day – literally skin and bones. After a visit with him some time in ’91, he didn’t like the sound of my lungs and sent me to the emergency room at Mt Sinai Medical Center.
This is where it all begins to unfold……
They run a cat scan, some blood work and decide to hospitalize me.
The next day, I was sitting in my bed, alone, and the chief of pulmonary – Dr. Alan Tierstein, came to me and said…. You’re lungs look like swiss cheese… You need a double lung transplant… And you need it within the next six months, or you may not make it… He then tells me he’s going off to Europe and his colleague (Dr Maria Padilla) will be following up with me tomorrow… I begin crying, and he walks out! My husband walks in the room, sees me crying, I tell him what happened and he runs off to find the doctor. He finds him, tells my husband the same story and that was it.
Talk about a bedside manor!
This was a terrible, stressful time for me and my family. I still remember sitting in my bed – with a large group of family all sitting around me – the mood somber – and not much talking. How painful it was for me to see them all in pain. I know they were all worried about me – but I worried about them…
After this, I proceeded with all the lung transplant work up. Months were passing and the fear of what was going to be was terrible… I thought – how could I have gotten married? If I knew this before, maybe there wouldn’t be a marriage? How could I do this to my husband? He lost hi mom when he was 11… How can I put him through losing his wife too? Oh – the guilt…
Of course we wanted more opinions. My doctors at Westchester medical agreed… My reports were sent to John Hopkins – and they agreed… I then went to a pulmonologist at Columbia Presbyterian who agreed, but thought it was worth an appointment with the Child Cystic Fibrosis Director, Lynne Quittell. Although CF was her specialty, she still handled other pulmonary diseases.
This was the light at the end of that tunnel. I met with her. I handed her a fat binder of all my records. She asked us to wait outside while she went through my reports. When we walked back in to her office she said. You have Cystic Fibrosis – You do not need a transplant – You need to change your medications – start physical therapy.
So – when all the doctors are telling you transplant, and one says no. Who do you believe???? Oh – and remember the GI doctor… He basically said, in front of me to Dr Quittell (he was on the phone with her) “I’m not very optimistic about her prognosis”… IN FRONT OF ME!!!!!
My heart said to trust Dr Q. And my heart was right. 3 months later, 25-30 pounds heavier, improved lung function – from 30% to 48%, AMAZING. She saved my life!
Later, the genetic blood tests came back confirming that I did in fact carry 1 CF mutation. This was 1991/1992.
And, later in 1999 the 2nd mutation was found.
FINALLY – A FIRM DIAGNOSIS – CYSTIC FIBROSIS….
more on my journey to come… including…
- the birth of my son
- the scare of 1999
- my daily life
- my fears and thoughts