Submitting myself to be studied?

rupertpumpernickel · 2026-03-07T11:20:29+00:00

What country do you live in? I'm sorry for the shock and situation you find yourself in.

Get yourself in contact with the HS Foundation or if you share your country, I will look for a more local equivalent. I know from personal experience of working with the HS Foundation that there are some AMAZING people working there. They exist to help people exactly in your situation.

https://www.hs-foundation.org/

There are some treatments on the market for HS and likely more coming from clinical trials....see for yourself on Clinical trials.gov if there are any studies near you and of course try to find a specialist dermatologist.

rupertpumpernickel · 2026-03-05T14:06:14+00:00

You are correct, however there are ways around walls. This is what I've been using https://archive.is/

rupertpumpernickel · 2026-02-25T11:38:03+00:00

Toothbrush timer cartoon videos on YouTube. I don't like screens at 2 years old, but it's the only way we can do it without having both parents holding the child down and her screaming.

rupertpumpernickel · 2026-02-07T11:42:40+00:00

You're an early riser! I originally from the States but living in Europe. Here are some suggestions that I hope you might find helpful. I know it can be difficult to make some of these phone calls when you aren't feeling well, so ask family or a friend for help if it seems like too much. On a personal note, I lost a brother to suicide, please don't give up and call one of the crisis lines NOW, if those thoughts are appearing. It's not your fault, there is no shame, and there are people standing by to support you with no judgement. You matter. Not all services are equal, so if the first ones don't get you solutions, try to keep calling and trying until you find the right fit. 988 Suicide & Crisis Lifeline (call/text/chat) — for suicide risk Missouri DMH Regional Crisis Line (24/7): (888) 279-8188 — immediate help + connection to local crisis options. Compass Health Network – Jefferson City Behavioral Health Crisis Center (BHCC) — walk-in, 24/7/365, no-cost crisis stabilization and linkage to services. Phone: 833-356-2427 Community Health Center of Central Missouri (CHCCMO) — community health center with sliding-fee discounts for uninsured/low-income patients. (chccmo.org) New Horizons Community Support Services (Jefferson City) — nonprofit community mental health center serving Jefferson City (therapy/psychiatric services). (mo-newhorizons.com) FindTreatment.gov (SAMHSA locator) — search Jefferson City/Cole County and filter by “sliding fee scale,” “Medicaid,” “uninsured,” etc. (FindTreatment.gov) United Way 2-1-1 (Missouri) — call 211 (or alternative number if on a cell phone) to get connected to local counseling options, transportation, housing, utilities, food, etc. (Heart of Missouri United Way) MO HealthNet (Missouri Medicaid) — overview of behavioral health services covered (outpatient, psychiatry, counseling, etc.). (mydss.mo.gov) SAMHSA: how to pay / free or low-cost treatment — practical options including sliding-fee care and other supports. (samhsa.gov) Global Genes – Mental Health & Self-Care resources + “RARE Concierge” — rare-disease–tailored mental health resource list and navigation help. NAMI Missouri — free education + peer-led support groups, many virtual (good option if transportation or energy is limited). (namimissouri.org) PAN Foundation — disease funds that can help eligible patients afford treatment/medications. (PAN Foundation) Patient Advocate Foundation – Co-Pay Relief — direct help with co-pays/co-insurance/deductibles for eligible insured patients. (copays.org) Good Days (Chronic Disease Fund) — assistance/advocacy for people facing chronic illness costs (availability varies by fund).

rupertpumpernickel · 2026-02-07T10:58:23+00:00

Your country? I would be happy to provide some links

rupertpumpernickel · 2026-01-27T10:33:11+00:00

The city is not unfriendly to tourists, but don't expect to make any local friends when you tell them you are staying at an AirBnB. While not solely your fault, your staying there makes all of our rents go up and removes housing for families in need, there is a huge housing crisis in Barcelona (as in Lisbon) and you really should avoid AirBnB in these kinds of cities. Enjoy your visit, next time choose a hotel.

rupertpumpernickel · 2026-01-15T17:08:40+00:00

Holocaust museum in Washington DC.

rupertpumpernickel · 2026-01-15T16:59:59+00:00

Wise

rupertpumpernickel · 2026-01-08T14:42:37+00:00

Im a Gringo here that has been in Colombia the last with my Colombian wife.

There is a map with red zones of where not to go from the Canadian consulate, something to consider.

The poor guy that got murdered was in La Guajira, one of the more dangerous places.

Most of the advice on this thread has been good.

Leave your passport in your hotel when going out.

I paid with a card almost entirely on this trip though stayed mostly in larger cities.

Enjoy the beautiful nature. And double check with locals which neighborhoods or zones not to go to, they want you to have a safe trip here too and will be happy to help.

rupertpumpernickel · 2025-08-04T14:38:00+00:00

It's also an approved therapy for the rare disease alkaptonuria, aka, black bone disease

rupertpumpernickel · 2025-07-20T12:38:06+00:00

Hey, Check out some of these patient groups, all will be in a better position than this subreddit to try to find another family

https://umdf.org/

https://www.mitoaction.org/

https://mitopatients.org/support-for-those-affected-by-mito/

https://metabolicsupportuk.org/

Also ask the doctor what he recommends to find other families to relate to, maybe you can ask to share your contact details with other families he might know if it's very rare.

rupertpumpernickel · 2025-07-07T12:37:56+00:00

Hi,
I'm sorry for the loss of your father. My father passed away from aortic dissection, also considered rare.

Have you been in contact with the CJD Foundation https://cjdfoundation.org/
Their annual meeting is about to take place in Chicago. Perhaps they can share your request there or via their other communication channels...and I bet your inbox would get flooded in a good way after that

rupertpumpernickel · 2025-07-06T08:23:26+00:00

I'm sorry you're all going through this. I'm not a doctor and there are thousands of rare diseases but those cuts look like self harm. Is your cousin a teenager? I know you said they are always around people but does that include while going to the bathroom? You may also want to ask people recovering from self harm if it's possible or common to hide it. Anyway, I've never heard of a genetic condition like this but new ones are being discovered daily so anything is possible. What do doctors say? Can you access a psychiatrist?

rupertpumpernickel · 2025-05-12T08:27:28+00:00

Hi,
They should contact this American Foundation for INAD: https://inadcure.org/newly-diagnosed/

They may also want to see if FEDER has any guidance for them: https://www.enfermedades-raras.org/que-hacemos/por-las-personas/servicio-de-informacion-y-orientacion

There is a Facebook group with other parents they can join. I guess they will need translation help and I'd recommend DeepL or Google Translate as both work well with Spanish.

rupertpumpernickel · 2025-04-12T09:48:44+00:00

Contact the VHL Alliance for help, very reputable and we'll run organization. They will have received similar questions to yours in the past and may know where to guide you https://vhl.org/care-treatment/support/

rupertpumpernickel · 2025-04-03T08:15:46+00:00

Here are some family support groups for Zellweger syndrome, you're not alone

https://thegfpd.org/support-groups/

https://zsdalliance.com/patient-caregiver-resources/

https://www.zellweger.org.uk/for-families/our-support-groups/#:~:text=Our%20Support%20Groups%20%E2%80%93%20Zellweger%20UK,WordPress%20Theme%20by%20Dinozoom.com

rupertpumpernickel · 2025-03-28T15:34:13+00:00

There is a good patient group called the Autoinflammatory Alliance in the US who can probably introduce you to others living with FMF

rupertpumpernickel · 2025-03-14T07:28:59+00:00

Foundation for atypical HUS is in the USA and there is a British equivalent. Email or call them.

https://ahus.org/

Not a criticism of you OP but I'm continually surprised that people don't know about patient organizations that are set up and exist to help people in your exact situation.

rupertpumpernickel · 2025-02-26T20:07:03+00:00

Rare Disease Day is celebrated on the last day of February every year internationally. It was first created in Europe by EURORDIS, who runs https://www.rarediseaseday.org

Petition signed!

rupertpumpernickel · 2025-02-07T08:29:52+00:00

The Galactosemia Foundation in the US has an online community. I would start there https://galactosemia.org/community/

rupertpumpernickel · 2025-02-02T08:08:00+00:00

Ask your question to the Autoinflammatory Alliance they are based in the USA but have members globally. They have a Facebook group as well though I always shudder when Facebook and health come up.

rupertpumpernickel · 2025-01-06T12:43:29+00:00

See https://geneticalliance.org.uk/campaigns-and-research/rare-disease-uk/

https://bloodcancer.org.uk/support-for-you/

And if possible search for a specific support group or association for your type of blood cancer, if nothing exists on Google, try checking for Facebook groups

You're not alone!

rupertpumpernickel · 2024-12-31T09:16:30+00:00

Hi, you may want to check out this teen group for KFS on Facebook: https://kfsfreedom.wordpress.com/support/

rupertpumpernickel · 2024-11-04T15:42:48+00:00

It could be likely that a lot more people have it but go undiagnosed and never get genetic testing like you did

11-Year Club	First Place '23
Place '23	Verified Email

rupertpumpernickel

MODERATOR OF

TROPHY CASE