A rare disease diagnosis can change your life; Mari Jackson knows this firsthand. She received a surprise diagnosis of pulmonary arterial hypertension (PAH) at age 48. Her symptoms began suddenly, altering her life as she knew it.
About PAH
PAH is a progressive form of high blood pressure that is characterized by the thickening of the pulmonary arteries. These arteries become blocked, which forces the heart to work harder to push blood through, which then leaves less oxygen-rich blood for the rest of the body. Additionally, the heart gets weaker as it has to work harder and harder to do its job. These issues lead to symptoms such as chest pain, fatigue, fainting, dizziness, shortness of breath, and swelling in the legs and ankles.
A mutated BMPR2 gene can cause this condition, although the use of street drugs or other diseases can also result in PAH. If the cause is genetic, the mutation is passed down in an autosomal dominant pattern. In terms of treatment, there is no cure; it focuses on slowing progression and addressing symptoms. Options include vasodilators, guanylate cyclase stimulators, sildenafil, endothelin receptor agonists, tadalafil, warfarin, high-dose calcium channel blockers, diuretics, oxygen therapy, digoxin, atrial septostomy, and a lung or heart transplant.
Mari’s Story
Mari’s symptoms appeared out of the blue in February when she blacked out after standing up to make her way to the bathroom for a shower. When her husband and son came to help, she was embarrassed and had no idea why she had passed out. While the event was concerning, she went on to get ready and go to work – traveling 44 miles round trip.
Ignoring her symptoms did not make them go away, however. She continued to experience episodes of dizziness, lightheadedness, and fainting. In fact, her symptoms progressed to include seizures. She described one instance in which she seized while using the bathroom. Her husband was there to catch her, luckily.
It was at this point that Mari went to the emergency room. After running test after test, the only issue they found was pneumonia. She was treated with antibiotics and returned home. Still, her symptoms persisted.
At the beginning of March, Mari felt the entire left side of her arm go cold and numb. Even after shaking it, there was no change, and then she began to sweat. It was then that she decided she needed to leave work; her manager called her husband to pick her up.
They then took a second trip to the ER, and Mari was admitted after doctors discovered that her blood pressure was 280 over 190. For the next week, she remained in the hospital undergoing testing while the doctors focused on lowering her blood pressure.
After a lung biopsy, right heart catheter, crash blood pressure drop, and treatment with blood pressure medicines, it was time for Mari to meet with a pulmonologist. It was this specialist who diagnosed her with PAH.
Then her life underwent a dramatic change. She explains the difficulties she faced with losing her independence, as she could not use the stairs or cook for herself. She was constantly exhausted and handling symptoms. In her words,
I couldn’t understand it. I got mad. I questioned myself. I questioned God, and I know that wasn’t the right thing to do, but I didn’t know what else to do. I wanted answers. I prayed for understanding.
While handling such a dramatic change, she also began to learn everything she could about her condition. She also began to make adjustments within her own life, like changing her diet to lose weight.
Still, she endured a tough year. Talking tired her out, as did many of the other activities she was previously able to do without issue. Working was the big one; it was such a large part of her life. Now, she hopes to be able to dedicate some of her time to volunteer work, especially if she can work with people living with disabilities.
With all of this new free time, she has been speaking with other PAH patients. They share ideas, feelings, and tips. In the future, she may reach out to a chapter of patients in Charlotte to forge a deeper connection and find a community.
Her condition has improved since her diagnosis, and now she can walk on her own when she wants. She travels at her own pace and does everything she can to ensure her safety, such as wearing a Life Alert.
Her husband has been a pillar throughout her journey as well, providing support and love. She focuses on this rather than all of the negative aspects. She even advises other patients not to focus on the bad things, as it can cause stress and worsen health even further. Her outlook is “one day at a time.”
You can read more of Mari’s story here.
