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Congenital dyserythropoietic anemia type II: Looking for a doctor

Posted by tiffanynblack @tiffanynblack, Jul 14 1:55pm

Hello!

I have been referred to Mayo, but I doubt I will get help. I have a rare mutation on the sec23b gene making me compound heterozygous. I have some of the phenotypes, but no one will run the HEMPAS test for me.

I am afraid to go all the way from Kansas City, Missouri to Michigan just for them not to help me. I've been to 6 hematologists and no one will listen! My genes were ran through Flugent in California.

I cannot find a doctor here in KC who will do anything at all, and I am slowly dying at 42. I've had this my entire life. The only doctors around are pediatricians!

Help!

Thanks so much!

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Mentor
Patty, Volunteer Mentor | @pmm | Jul 14 2:53pm

@tiffanynblack
Greetings and welcome to Mayo Clinic Connect. I’m so sorry you’re frustrated. It is frustrating when you can’t get what you feel that you need to address your health concerns. I can attach a link for making an appointment at the Mayo Clinic.
http://mayocl.in/1mtmR63
Mayo Clinic has facilities in Phoenix and Rochester, Minnesota, as well as in Florida.
As with all new patient referrals to any physician or clinic, I suspect that they would want to look over your records or do an exam before they would order any blood test. I see that you’ve already been referred, do you have an appointment scheduled?
Rochester Minnesota is not quite as far as Michigan for you. I had such a good experience with the Rochester clinic with my husband and even though we were appraised of his condition and diagnosis ahead of time, we learned a lot from our visit there. I hope that you would have a similar experience. Can you keep in touch and let me know what happens?

REPLY
1 reply
tiffanynblack | @tiffanynblack | Jul 14 3:00pm
In reply to @pmm "@tiffanynblack Greetings and welcome to Mayo Clinic Connect. I’m so sorry you’re frustrated. It is frustrating..." + (show)
@pmm

@tiffanynblack
Greetings and welcome to Mayo Clinic Connect. I’m so sorry you’re frustrated. It is frustrating when you can’t get what you feel that you need to address your health concerns. I can attach a link for making an appointment at the Mayo Clinic.
http://mayocl.in/1mtmR63
Mayo Clinic has facilities in Phoenix and Rochester, Minnesota, as well as in Florida.
As with all new patient referrals to any physician or clinic, I suspect that they would want to look over your records or do an exam before they would order any blood test. I see that you’ve already been referred, do you have an appointment scheduled?
Rochester Minnesota is not quite as far as Michigan for you. I had such a good experience with the Rochester clinic with my husband and even though we were appraised of his condition and diagnosis ahead of time, we learned a lot from our visit there. I hope that you would have a similar experience. Can you keep in touch and let me know what happens?

Jump to this post

Yes I will! I have 3 positions with the IRS that are pending. One of which, the start date should be within 2 weeks. I will have to wait 6 weeks to schedule. I am on Medicaid now, so it is only for Missouri. I hope I live that long. lol I found out this one mutation is more juvenile, so all the doctors here are pediatricians. My luck! I've been sickly my entire life, but 15 years ago I received 2 blood patches and ever since then I have been slowly dying! I am still praying though!

REPLY
Mentor
Patty, Volunteer Mentor | @pmm | Jul 14 3:06pm

@tiffanynblack
I did find this very helpful post by Lori, another mentor, that I hope will be helpful to you.
As a new member, you will not be able to send a personal message to any of the members in the discussion, but you can post in those discussions. It’s always helpful to find patients with similar diagnosis to give you support.
I am hopeful that your new position will give you adequate insurance so that you can explore this further.
https://connect.mayoclinic.org/comment/1085595/

REPLY
mjha | @mjha | Jul 15 11:44pm

Hello @tiffanyblack
I am sorry to hear. I hope your visit to Mayo is positive and helpful. Are you on any kind of medication or treatment? My brother is suffering from CDA type 2 anemia, we got the diagnosis two months ago. Since Dec 2023 he is requiring transfusion every two to three weeks. I am posting below some resources that Lori had kindly shared with me when I posted about his illness. The link from Ash publications below also mentions a clinical trial for a drug called sotatercept which is showing promising results. You may want to make notef of these and ask the specialists at Mayo if any of these are good option for you.

According to the Boston Children’s Hospital, treatments can include:
>blood transfusions and apheresis.
>medications, such as iron chelating agents or interferon alpha-2A (only in CDA type I)
>selected surgical procedures (removal of the spleen and/or gallbladder), when required
>stem cell transplant — the only definitive cure, available to patients with very severe CDA

Here are several sites for you to read through to gather a little more knowledge of this type of anemia.
~From the National Institute of Health-Genetic and Rare Disease Center: https://rarediseases.info.nih.gov/diseases/2001/congenital-dyserythropoietic-anemia-type-ii

~From Ash Publications: https://ashpublications.org/blood/article/136/11/1274/461553/Congenital-dyserythropoietic-anemias

From Boston Children’s Hospital: https://www.childrenshospital.org/conditions/congenital-dyserythropoietic-anemia
I will be thinking about you.

REPLY
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