New Member Story: Aplastic Anemia/Polycystic Kidney Disease

[Shroob]

Hi all!
My name is Audrey and my mother was diagnosed with AA several months back.
The my last years of high school and beginning of college my mom underwent at-home dialysis for her Polycystic Kidney Disease. Amazingly, someone we knew wanted to give her her kidney and it was a 99% match. She had her (5 pound) kidney removed in 2014 and made a great recovery with the new kidney. She still has one cyst-covered kidney in her but her nephrologist does not see a reason to remove it. She was taking Tacrolimus up until a few weeks ago.

(Just prefacing, I am not well-versed in medical terminology so hopefully this all makes sense).
She started noticing bruising and petechiae several months ago and when she went in for a routine check up they noticed her platelets were on the low end. As time went on, and blood draws became a twice-a-week occurrence, her white blood cells, red blood cells, and platelets kept dropping. In December, she hit 9,000 platelets and had a transfusion. I soon moved back home due to other circumstances but am so happy to be near her while she goes through this. Her hematologist prescribed her a steroid in the beginning but it made her feel sickly. She had a bone marrow biopsy which didn't show any signs of cancer, but they did tell her her bone marrow function is that of an 80 year old woman's. She was told her body is producing the necessary things, but "something" is attacking them, which is why her levels are so low. She was then placed on Promacta but no improvement. Finally, she ended up being able to schedule a meeting with a doctor out at the Huntsman Institute in Utah. He told her she wasn't at a critical level and that he wanted her to try cyclosporine for 3 mos and they would have her back for ATG treatment.

Cyclosporine has been a rollercoaster ride for sure. She started at 200mg which proved to be incredibly toxic to her liver. Her level shot up from 380 to 400+ quickly. They took her off of it for a weekend and the dosage jumped around for a week, but they have landed on her taking 150mg now. Level hovers around 230-250, which is within the safe realm of toxicity I guess. We are about 3 weeks in on cyclosporine and my mom's eyes are yellow, her skin is yellow, and she feels like her abdomen is swollen from her liver inflammation. She also complains about muscle cramps and overall pain, which I guess is another awesome side effect. She's had a transfusion weekly now for 3 weeks, and is taking note that her levels are not moving but declining slowly. Platelets are still around 9,000.
She spoke with her nephrologist yesterday who told her he isn't a fan of this drug but also said if her levels do not improve, he does not see any good outcome (which is the first time anyone has mentioned anything about her mortality). My mom is teetering between going off the drug and letting the anemia "kill her" and "letting cyclosporine kill her."

It breaks my heart to hear her say these things. She jokes about dying all the time now, but I know she's scared. My dad is an avoidant type, so talking to him isn't an option. I know what my mom tells him resonates but he just tries to put on a happy face all the time. I made the mistake of doing online research and reading about mortality rates in the beginning of this process which did more damage than good, but am now just trying to remain hopeful. However, this morning my mom told me she wants to sit down with my dad and I and have a talk about what could happen to her and what we will do if she dies.

I know it's a tricky situation with her polycystic kidney and she is still thinking about reaching out to the Mayo clinic to get another opinion, but is discouraged by how long the approval process takes.

As someone told me, this disease is a marathon and not a sprint, and is just one test result after another. We are patiently (or not so much) awaiting the ATG treatment in 2 mos but are afraid of how that will affect her if the cyclosporine is doing this much.

I guess I just feel a little helpless and bordering hopeless. I'm glad to have been referred to this forum to read about other stories and meet others, just wish none of us had to even go through this. Thank you for your time.

Edit: I've read about successful Sirolimus therapy when AA is combined with Polycystic Kidney Disease. Has anyone heard of this therapy?
Edit 2: She is currently on 150mg cyclosporine, and 5mg Prednisone.

[Neil Cuadra]

Audrey,

Do you know why your mother wasn't treated with ATG initially? Unless there's a contraindication, it's almost always the first-line treatment for newly diagnosed aplastic anemia patients.

Given the unclear advice from your mother's hematologist and nephrologist, you might want to see another hematologist for a second (third?) opinion. Have you spoken to Dr. Charles Parker at the University of Utah School of Medicine? He's a known expert with a focus on aplastic anemia.

[Shroob]

Originally Posted by Neil Cuadra

Audrey,

Do you know why your mother wasn't treated with ATG initially? Unless there's a contraindication, it's almost always the first-line treatment for newly diagnosed aplastic anemia patients.

Given the unclear advice from your mother's hematologist and nephrologist, you might want to see another hematologist for a second (third?) opinion. Have you spoken to Dr. Charles Parker at the University of Utah School of Medicine? He's a known expert with a focus on aplastic anemia.

Hi Neil! Thank you for your response.
I'm not entirely sure why they didn't treat her right away. I believe it was because of her kidney and wanting to use it as a last resort, but that's purely speculation on my part. My mom isn't sure either.

She did go to the Huntsman Cancer Institute in Utah to be seen there. The doctor told her she was non-critical and sent her on her way with a cyclosporine prescription. Her counts have been decreasing since being on it (almost 8 weeks now) and every time she tries to get in contact they tell her they're not managing it and she should speak to her hematologist at home. Also, her hematologist wanted her to move up the ATG treatment and to get off cyclosporine but Utah hasn't returned her calls to push up the appointment. She is currently seeking another opinion elsewhere and was just approved for the University of WA and the Mayo Clinic I believe, so fingers crossed we can get her there soon. Not trying to say Utah is neglecting her, I'm sure they have their hands full.

[Hopeful]

Hi Audrey,

You are such a brave and caring person! I'm sure you mom appreciates your support during this trying time.

You are wise to seek another opinion at U of WA or the Mayo. They would be a good resource for recommending alternative treatments, since cyclosporine alone does not appear to be doing the trick (and is hard on the kidneys).

Wishing you and your mom the best! Be strong!

[Shroob]

Originally Posted by Hopeful

Hi Audrey,

You are such a brave and caring person! I'm sure you mom appreciates your support during this trying time.

You are wise to seek another opinion at U of WA or the Mayo. They would be a good resource for recommending alternative treatments, since cyclosporine alone does not appear to be doing the trick (and is hard on the kidneys).

Wishing you and your mom the best! Be strong!

She tells me that she is so happy I?m with them all the time, but I wish I could be doing more for her.

We got approval for U of WA! Unfortunately Mayo was out of network, but we are very hopefully about WA.

Thank you so much for your reply and kind words. Best of luck to you as well.

[mola-tecta]

Hello Shroob, I'm the person you were corresponding with on Reddit about our mothers I'm really glad you made a post here - this forum is really very quiet, but there's still some great people here and a LOT of information buried in the many years of threads.

Really hoping that you and your mother will be able to find a doctor who can start actually approaching this from a whole systems perspective. There is a lot to balance and I have experience with how specialist doctors can play "not my problem" when issues are complicated with multiple organ systems.

Please keep us updated with things at U of WA! And remember to take care of yourself as well.

[Shroob]

Originally Posted by mola-tecta

Hello Shroob, I'm the person you were corresponding with on Reddit about our mothers I'm really glad you made a post here - this forum is really very quiet, but there's still some great people here and a LOT of information buried in the many years of threads.

Really hoping that you and your mother will be able to find a doctor who can start actually approaching this from a whole systems perspective. There is a lot to balance and I have experience with how specialist doctors can play "not my problem" when issues are complicated with multiple organ systems.

Please keep us updated with things at U of WA! And remember to take care of yourself as well.

Hi Reddit friend! I've been following your thread closely as well definitely spent a lot of time sifting through the forums. So many incredible stories.

Will do. Hoping they can get her in quick. As of yesterday they are now afraid her kidney is rejecting, which is not what we wanted to hear.

Take care as well. Thank you for your response