The Difference an Early Diagnosis Makes
Story by Jayna Wall, Jackson’s mother
Our 5-year-old son, Jackson, was diagnosed with idiopathic pulmonary arterial hypertension (IPAH) on Aug. 21, 2012, when he was just 14 months old.
Up until that point, Jackson had seemed perfectly healthy. We had no indication that anything was happening in his little body. A few weeks before he was diagnosed he had a few bumps on his face and neck that we were monitoring. I didn’t want to take him to the doctor for just a few little bumps, but when some showed up around his eye I finally decided to call them. I took him to be examined, and the doctor said that the bumps were probably just bug bites.
However, during his examination of Jackson, the doctor heard a heart murmur. He looked back through Jackson’s chart and did not see any prior notations of a heart murmur. Although a doctor had heard a murmur when Jackson was born, we were told that it was not unusual for newborns to have murmurs since their hearts were still growing. No one had mentioned a murmur to me since then. The doctor suggested that we take him in for an echocardiogram, so we set up an appointment for a few weeks later.
I wasn’t expecting to get the results on the day of the echocardiogram, since the pediatrician had told me that they wouldn’t give us the results for 4 to 5 days. I also thought, based on the apparent health of Jackson, that they were just going to tell me there was nothing to worry about, that it was just an innocent murmur. Since we didn’t expect to get the results for a few days, my husband, Matt, traveled to Atlanta for work that week.
Unfortunately, we were wrong. The cardiologist took a look at the echo and immediately came in to talk to me. When the rest of the words out of his mouth were “The prognosis is not good,” I told him that I needed to call Matt. Once I got Matt on speakerphone, the cardiologist continued and told us that he thought Jackson had pulmonary hypertension (PH) and that, since he could not see anything on the echo which might be causing PH, it was probably IPAH – which had no cure and could be fatal. He tried to explain everything to us, but we were both in shock. This just had to be a nightmare we would wake up from, right?
Matt immediately jumped on a plane to get back home. The doctor told us to be at the hospital at 10 a.m. the next day, and that the next step was a right heart catheterization to confirm the diagnosis of pulmonary hypertension. As soon as Matt arrived home, we both began to pray. All night long, we prayed for our sweet little boy. At the hospital the next morning, they did a lung CT scan and chest x-ray, both came back clear. They drew some blood and ran a few other tests, including a ventilation perfusion (V/Q) scan to rule out the presence of CTEPH. The following day, Jackson underwent the right heart catheterization procedure. We accompanied him to the room, and we watched as he was given anesthesia and went to sleep. It was so hard walking out of that room and leaving our little baby lying on that table!
We were told that the doctors would complete their examination and then try to administer nitric oxide to see if it would help dilate the arteries. We were hoping and praying that it would work. When the doctors finally came out and said that we needed to find a private room, we knew it was not good news. We sat in horror as we were told that the arteries in Jackson’s lungs were shriveled up, like prunes. He said that they had found a minor defect in his heart, but that it wasn’t significant enough to cause the PH and that medications would probably not work because the nitric oxide hadn’t worked. Another doctor who had come to get a status update on the procedure said that he thought a heart and lung transplant would be our only option. However, he did admit that they weren’t experts in IPAH and said that he was going to call a leading doctor in pediatric PAH to see if he could come up with a better option.
Several hours later, the doctor came back in and told us that he had a good long conversation with the pediatric PAH expert. He assured us that they weren’t just going to give up and that there were several different medications that we could try. As soon as he left, the adult PH specialist stopped by to see if she could answer any questions. We asked her about the nitric oxide and learned that it only works in a small number of patients (about 7 to 8 percent), and a lot of patients who don’t respond to the nitric oxide do respond well to certain medications. She was so positive and told us stories of young patients that had PAH/ IPAH and were still alive and doing well. We began to feel like the doctors were on board and fighting with us!
In the following days, Jackson started taking two different oral medications to dilate the arteries in his lungs. Over the course of several months, we saw improvements in his heart function, but the pressure in his heart remained very high. In January 2013, after getting a second opinion from another pediatric PH specialist, we decided to put Jackson on the strongest medication available for PH. This medication is delivered subcutaneously, so he has to be connected to a pump 24/7.
Since he was diagnosed, Jackson’s heart function diagnosis has gone from a “we’re not sure if his right ventricle is functioning” to “his right heart function looks almost normal” attitude. And his BNP (a hormone made by the heart, high levels of which can indicate that the heart is under stress or in failure) has dropped from the 1600s to the 100s.
We still have a long way to go, but Jackson has made a lot of progress over the past four years since his diagnosis. Despite all that he has been through, Jackson is a sweet, fun-loving and smart little boy with a PHighting spirit. We thank God every day for bug bites and an early diagnosis. We have great hope that one day there will be a cure for PAH and that our little boy will live a long and happy life.
To follow Jackson’s journey, please visit: www.facebook.com/PleasePrayForJackson