March 17, 2022 at 12:25 pm #33691
Mutations in the BMPR2 gene are the most common genetic cause of pulmonary arterial hypertension. This gene promotes cell division or prevents cell death, resulting in an overgrowth of cells in small arteries throughout the lungs.
Do you have a genetic mutation of PH? @kygon will appreciate whatever you can share about your experience.
Ky, I am posting your updates here to make them more visible to our members.
@kygon recently shared the following heartbreaking update and asked some questions:
I have been silent for all these years but I am at a point where having support might be-probably is necessary. My Husband has PAH and our daughter just passed away from it .. very suddenly too.. we also have a son with the gene who may or may not develop it. It’s a rough road. IDK if anyone else has the genetic mutation on this site but connection is connection, hope is hope, just trying not to lose ours.
Unfortunately we very recently lost our daughter to PAH, (she is my step daughter, but no less MINE) My husband has the same gene and developed the disease two years after our daughter’s diagnosis. Reality of mortality and how short life truly is has been a heavy topic in my household. My husband will never qualify for the lung transplant because he had a stroke and we really thought we would see it coming! the plan and belief all along was our daughter would get on that transplant list… I am overwhelmed, heartbroken and facing true seriousness and shock of how quickly PAH can just rob a life right out from under you… I am not a negative person, just in shock and a little reality kicked down a notch or two. I have been silently following this group for years, and I pray for all the families plagued with this disease everyday!
March 17, 2022 at 2:24 pm #33700Jen CuevaKeymaster
Hi @kygon, again, I’m so sorry to hear about the loss of your daughter. With your husband having PH and possibly your son, this must be difficult for you and your family. But I’m grateful that you decided to open up and share this so we could support you during such a tough time in your life.
Your heartbreak is expected; allow your body to feel those emotions. You and your family have been through so much in such a short time. One PH diagnosis affects a family in more ways than most realize. So, I cannot begin to imagine your overwhelming emotions.
I’ve had PH for 17 years, and I wish I had words to help your hurting heart at this time.
Do y’all live near a PH center so that a PH specialist cares for your family?
I wish that I could reach through the screen and gently hug you. This breaks my heart reading. Do you have a support system outside your immediate family that you depend on? How is your health mentally and physically with everything on your plate?
Please let us know how we can best support you.
March 17, 2022 at 6:22 pm #33704
Colleen, Thank you for sharing and putting it out there. Because this gene mutation more dominantly targets girls we hoped my husband would never develop it and of course we are still praying our son does not.
Jen, Yes we live in Utah and our PAH center is only 40 minutes from our home so we are lucky, however it is going to be hard to go there for my husbands appointments bc of our recent loss in that building. I am a little frustrated with them as well because she was told she wasn’t ill enough to go on the lung waiting list yet and they added another medication for re-evaluation at her next visit This month, she didn’t make it. Wow 17 years, that is incredible our daughter was only diagnosed 5 years ago.
March 18, 2022 at 7:06 pm #33712
March 21, 2022 at 3:33 pm #33723Jen CuevaKeymaster
Hi @kygon, I can only imagine how difficult that is walking into that same building after the loss of your daughter. But, I’m hopeful that your husband will have excellent care. Please do keep us posted on your soon, too.
I am sorry that your daughter progressed so rapidly, which is what it sounds like happened. This is not uncommon with PH. I was fortunate to catch mine early on and start treatment. Unfortunately, everybody is different, and our bodies don’t follow any textbook.
March 22, 2022 at 7:12 am #33734
Jen, yes she was put on the remodulin pump just one year after diagnosis, so she definitely progressed quickly but her pressures were in the 70s at time of diagnosis, I am curious what your pressures were when you were diagnosed? My husbands been able to stay off the pump so far but there are new second level medications that they will try first, our daughter really struggled with that pump and site pain…
Colleen and Jen, Thank you for your continued prayers and support! Our son Colby goes in every year for testing no signs of the disease yet!
March 22, 2022 at 3:14 pm #33737
@kygon we will continue to support you as best we can. Feel free to invite your husband and son to join the forums too. May I ask how old is your son? Praying that he continues to show no signs of PH.
I hope you don’t mind my asking if your daughter had been tested for any other conditions, especially for the heart? I was wondering if there might have been something that was further complicating her PH. For example, my son had severe Long QT and Mitral Valve Prolapse. Fighting the 3 conditions was a real battle between symptoms, treatments and progression and contributed to his needing a heart as well as double lung transplant.
How are you and your family holding up? I can’t imagine what you are going through. My heart truly goes out to you and yours.
- This reply was modified 3 months, 2 weeks ago by Colleen Steele.
March 22, 2022 at 3:15 pm #33735
March 23, 2022 at 6:05 am #33745
V.R. Thank you so much I can use all the prayers I can get.
March 23, 2022 at 6:20 am #33746
Colleen, Thank you my husband isn’t interested in joining and Colby isn’t either, he is typical 17 yr old … and at this point in time, they both like to pretend they are fine… but my husband may need to face the music a bit more now. He had his apt yesterday and we found out his heart isn’t doing very well, starting him on Uptravi with the sidinifil and ambrisenten and I guess they are going to appeal to the transplant team because his stroke was due to the PAH and a hole in his heart and the pressure pushed the clot closing it.. it’s been a weird roller coaster and I don’t even know how I can get back on the will they wont they lung choo choo will they wont they train…
No Kaylyn had no other diseases, they tested her for everything under the sun because even with the mutation she shouldn’t have developed it so young! Primary Children’s has Never seen a juvenile with only mutation gene PAH so she was a bit of a yellow canary in a coal mine.
I can’t imagine how hard it must have been fighting multiple diseases all at the same time! How is your son doing? How long ago did he get his new lungs? How scary to face that as a child and as a parent .. its no small surgery!
March 23, 2022 at 2:40 pm #33750
@kygon I get it so no worries. My husband and son have not joined the forums either. I just wanted to make sure they know they are welcome here.
My son’s PH was idiopathic and I thought it was awful not having a link to his PH, but it sounds like knowing isn’t much of a comfort either. Answers just come with more questions, don’t they?
My son is a canary in a coal mine too. The list is long of the many ways he has had doctor’s scratching their heads and scrambling to figure out the unusual situations he brought to the table. Nothing like being unique among the rare. I’m so sorry your daughter went through what she did and didn’t get her chance at transplant.
It’s awful and true that PH can cause strokes. I’ve known other PHers that happened to, including children. How has recovery been going for your husband?
March 24, 2022 at 9:27 am #33757
Yes answers always come with more questions regarding medical issues! I think all rare diseases have the same looming feeling regardless of answers or no answers… Like WHY… WHY US why is this happening and fighting with reality and trying to find hope and accept each new step and phase.
After we repaired his heart and got the diagnosis with PAH, the PAH team told us that he was likely born with a hole in his heart and his body had repaired it and as the pressure built up it broke that repair away leading to the stroke. Sometimes he says he wishes we never repaired the hole because it worked as a release valve for the pressure on the right side, but then he would have been at risk for another stroke and may not be as lucky a second time.
My husband’s stroke was almost four years ago now and seems like yesterday, it was really hard the first few months, lots of therapy’s, lots of tantrums, but we are very blessed that he never lost his ability to walk! It took some really hard work for him to have full use of his left hand, he still fumbles and drops things and if he loses his keys or phone we all make him check his left pocket, or we check it for him because he just cant feel with his left hand. Buttons can be a real challenge hahah. He also mixes up words which makes us laugh and I can tell when he has had a very stressful day because his face droops a little so I know to be extra nice lol. We have definitely had our ups and downs and gone through the hardest of the hard but ultimately it made us more solid and in sync with each other and a family as a whole which is hard with blended families to begin with. I hope your family has had the same positive outcomes with all your trials and hardships! I think I read that you’re a caregiver to your husband as well as your son? May I ask what he has and how he is doing?
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