1. Pituitary Dwarfism 2. Von Willebrand Disease -- Mayo can't fix her.

March 13, 2024 12:55 AM

You are not our doctor. You are someone who knows of a medical team in any city in the US that can help my niece. Sarah wants to see 19. That's next week. Pituitary Dwarfism - she cannot produce her own estrogen so they give her hormone replacement. The hormones make her bleed excessively because of: Von Willebrand Disease - she has a bleeding disorder, cannot clot correctly so she has been almost continuously bleeding for a year. She is having labor-like contractions every few minutes for hours and then passes clots the size of her fist.

If this sounds like hell, I promise you -- it is hell. Sarah is razor sharp, smart as hell, so much to give. She's tough as an old boot, she has fough t this shit her whole life but this is The Real Deal. And we need The Real Heal.

Mayo Clinic couldn't help her, waved her goodbye.
I have seen mircles come out of this place. All we need here is somebody who knows somebody who is married to Dianne, who so happens to be the exact person to help Sarah. Please tell Dianne I'll build her a house. I'll buy her a hat. Might be you wouldn't like me, and I'm with you there, but this is about Sarah, who is A Good Person, and needs you.

posted by dancestoblue to Health & Fitness (10 answers total)

Is there a link missing, or a sentence that got left out? After reading this twice I'm not clear on who Dianne is or how 19 (March 19th?) is connected.
posted by needs more cowbell at 3:49 AM on March 13 [4 favorites]

As I understand it, Dianne is a hypothetical person here, a possible "friend of a friend of a friend" who is in a position to help navigate this situation. And also, I believe Sarah's 19th birthday is next week.
posted by knile at 4:15 AM on March 13 [18 favorites]

I'll take a shot at answering the question. IANAD: I'm in Philadelphia, where there's fantastic research and care provided at Children's Hospital of Philadelphia. A few minutes navigating the site led me to think you can start with the neuroendocrine center.
posted by knile at 4:18 AM on March 13 [5 favorites]

Boston Children's Hospital has a Second Opinion Program and a Pediatric Diagnostic Program for Complex Cases. You can contact them online or in person. I've had occasion to work with BCH doctors on multiple occasions and I've always been very impressed. They also have an emergency room if it comes to that. Best of luck to your niece. She deserves to live. The world needs her.

Side note: I believe the OP means that Sarah is in danger of dying in the next week. She wants to live to see her birthday.
posted by Winnie the Proust at 6:19 AM on March 13 [5 favorites]

I understand why you marked knile's helpful clarification as a best answer, but since you want as many people as possible to click on this question, I wonder if you should unmark it. I suspect I'm not the only one who's less likely to open a question that's been marked with a best answer early on because it makes it seem like a satisfying answer has probably already been provided.
posted by Redstart at 6:47 AM on March 13 [8 favorites]

Dr Michael Ain. He is a little person with a child that is also a little person. He is one of the few Dwarf surgeons in the world. He has a different specialty than what I, a non-medical person, thinks your niece needs, but, having met the man, I believe he would have good advice and/or good contacts.

He is, or was, at John's Hopkins which I just looked and it has something on its website about pituitary dwarfism.

Its a long shot, but worth a try.
posted by JohnnyGunn at 6:52 AM on March 13 [7 favorites]

If you don’t find the answer you need here, I would ask on Reddit. Yes, Reddit can be toxic, but IME the subs for medical conditions generally are not, and can be *extremely* helpful. I just found these subs:

r/dwarfism

r/pituitary

r/hemophilia

If you’re not familiar with Reddit, you can search within a particular sub for specific words.

I’ve got my fingers crossed for Sarah!
posted by MexicanYenta at 8:13 AM on March 13 [1 favorite]

I think Sarah should be seen at a hemophilia treatment center: Hemophilia Treatment Center (HTC) Directory, CDC.gov

Von Willebrand Disease (VWD) at hemophilia.org. "People with VWD are either missing or low in the clotting protein von Willebrand factor (VWF) – or it doesn’t work as it’s supposed to." VWD has three inherited types (with subtypes) and an acquired fourth type; dependent on VWD type, treatment/management medications include desmopressin, tranexamic acid, Von Willebrand factor/factor VIII (vWF/FVIII) concentrate, etc.: New and emerging therapies for women, girls, and people with the potential to menstruate with VWD.

I'm sorry Sarah's going through this.
posted by Iris Gambol at 8:56 AM on March 13 [1 favorite]

I don't have personal experience, but I know several people who've had difficult conditions treated well at Froedtert in Milwaukee, and they have a Pituitary Disorders program and a Benign Hematology program.
posted by Lyn Never at 9:38 AM on March 13 [3 favorites]

Sarah wants to see 19. That's next week.

Do you mean, literally, that there are actual fears that Sarah will die within the week if she remains untreated? If so, she needs to go to the ER immediately.
posted by paper scissors sock at 11:31 AM on March 13 [13 favorites]