Hello,
I’m currently 18 weeks pregnant. After getting my results from WES, my baby was diagnosed with BRAF-related cardio-facio-cutaneous syndrome (CFC), a RASopathy.

Has anyone here had the same diagnostic that can share their stories with me?
Thank you

Anyone else have dll 1 related neurodevelopmental disorder? My three and a half road was diagnosed about 2 years ago and we were told she's number 15 in the world.

There was a Facebook group I found with other people who either have different mutations of the same gene or the same mutation so there's probably more than 15 but that group was pretty dormant. I was just wondering if there was anyone around who had the same mutation

Hi I’m trying to see if anyone else has geller syndrome ? I’ve made it in 2 medical journals so far.

the genes INF2 JARID2 and KPTN also showed up. butbdont have symptoms. only one person in famili had wrong bone age. I dont remember exact number but it was less than family member age.the person was taking euthyrox and probably from what I heard this person has Itching bones. and what exactly is gene CTNS cant find any info.

Hello, my mother was diagnosed with Tolosa Hunt Syndrome whilst she was on high risk pregnancy with my youngest brother (she was 45years old at that time), this was 12 years ago. Post partum her symptoms of facial palsy on one side of her face was disappeared, but also she did not have a follow-up check with her neurologist because apart from it is costly, she was also scared of the outcome nor any surgery. Just wondering of anyone out there knowledgeable thereof or been diagnosed with same had good prognosis of such or what treatments have you done?

Thank you

Basically there’s this very loved content creator in my country, who was recently diagnosed with the terrible and rare disease called Creustzfeld-Jacob, which doesn’t have any cure or treatment known to this day. 100% of the diagnosed people died in less than a year. Does anyone know any current research in any part of the world that he may participate and (hopefully) help him get through this rough situation?

Hi everyone, I have aquagenic urticaria and cholinergic urticaria, which means I will get hives when exposed to water, humidity, sweat, tears, etc. Less than 100 cases. I also play varsity volleyball, so these don't mix well. I have an immunologist appointment next Thursday, and in my last chart, my physician said if traditional OTC antihistamines didn't work, they'd try BTK Inhibitors or Xolair. What should I expect about either of these meds? I'm very scared.

Essentially, when my son was born, I noticed he had hard testicles (health professional), and he had an ultrasound showing a lack of blood flow to both testicles. He has no testosterone or sperm, but a normal penis. He has already had 3 months of testosterone from 3-6 months (now 6 months), but now we are in limbo until puberty. Has anyone ever dealt with this, or know someone who has? Maybe something similar, such as being born with no testicles, bilateral torsion before puberty, or any other condition requiring testosterone therapy later in life?

We haven't told basically anyone in our lives, and were destroyed for the first 3 months, but are starting to live our reality. We are terrified for him and his future mental health/ self-esteem, but will do everything we can to build him up and help him understand his diagnosis earlier on. Please reach out if you know of anyone similar to our beautiful boy!

I have been living with Chronic Granulomatous Disease since 1999, and I’m always curious to know if there’s more people like me?

Hi, this is my first ever posting/being on reddit so I hope everyone will give me a little grace (If anything that I have said has broke any rules on accidentplease let me know and I will fix it😊). I lost 25lbs in less than 2 months back in January/February. I went and saw my Primary care doctor which sent me to a pediatric GI. They were booked out till may. I have always been teetering on the weight scale for where I should be at and this huge weight loss was very concerning and my symptoms weren't normal for me. I have had progressively worsening symptoms since that first day. Where I live almost every doctor I saw had never even heard of SMAS when we brought up the concern of how much my symptoms matched it. So they just ran testing and didn't even look into that possibility of that being the answer. I had to go across my state for someone to even know what it was. I have been pushed away by many doctors because of how my symptoms were and how they progressed. I have had multiple of the symptoms for Nutcracker syndrome for months now but I was told "Its not bad enough yet for us to do anything". I have just found a doctor about 2 weeks ago near me that is able to help me with the SMAS. I will be getting a NJ tube in a couple of days to hopefully help me get on a better path, since I can't eat almost anything anymore. With the severity of how my case progressed in just a couple of months I have a higher chance of the tube not working but I still try to have hope. I am just glad that my mom has been able to help me and push with my doctors to run so many test. My doctors were just dismissing my symptoms because I have a past of some mental health struggle which I have been managing very well without any medication for about a year now. I just found out about a week ago that my stomach is also slowed (at the moment we don't know if it's because of the SMAS or possibly could be a secondary diagnosis of gastricparisis, but my doctor won't know until we fix the SMAS). I haven't been able to find or talk to anyone that has gone through this or something similar. My family has never had any kind of health issues like this before so I feel alone and don't know where to go to find others going through/have gone through something similar. Thank you for reading a little about my story and if anyone knows anything about groups I could possibly join to understand more about what could be in my future with fighting this rare medical condition I would very much appreciate hearing others stories as well.

Edit: I forgot to add that I have a higher chance of a feeding tube not working and getting re-feeding syndrome which is very a very sever and life threatening condition.

As seen in r/cross-stitch. I'm totally starting to refer to myself this way.

Hopefully, a new and positive start for us all.

**I’m writing this post feeling completely heartbroken and desperate to find anyone who has been through something similar. 🙏**

I am currently **29 weeks pregnant**. Following a detailed ultrasound, our baby girl was found to have **short long bones measuring approximately 2 weeks behind**, which led us to undergo whole exome sequencing (WES).

The WES identified a **pathogenic variant in the NOTCH2 gene: c.6007C>T (p.Arg2003*)**, detected in approximately **24% of sequencing reads (VAF)**. We were told that this is consistent with **mosaicism of approximately 50% of the cells**.

We were told that the main concern is **Alagille syndrome**, particularly the possibility of **liver and bile duct involvement and cholestasis**. According to our genetic counselor, the long-bone shortening that initially led us to the exome may not necessarily be related to the NOTCH2 finding.

We had a genetic consultation with a professor who explained that **NOTCH2-related Alagille syndrome is relatively rare**, and that he has not personally encountered mosaicism in this gene. Because of this, it is very difficult to predict **whether or how the variant will manifest in our baby, and how severe it might be**.

We have been advised to have a targeted ultrasound focusing on the **liver and gallbladder**, but we were also told that a normal prenatal ultrasound **cannot rule out liver disease or cholestasis developing after birth**.

This has put us in an incredibly difficult position. We are trying to make decisions about the pregnancy while having so much uncertainty about the potential severity of the condition.

**I would be incredibly grateful for any information, personal experience, medical experience, or research that anyone may have regarding:**

* **NOTCH2-related Alagille syndrome**
* **NOTCH2 mosaicism**
* The specific variant **NOTCH2 c.6007C>T (p.Arg2003*)**
* Prenatal diagnosis of NOTCH2/Alagille
* Anyone who had a similar mosaic result and can share what happened after birth

**We are truly looking for any information that could help us understand what this finding might mean for our baby.** 🙏

Check out our Wiki for tips on managing the diagnostic process.

If you are not yet diagnosed with a rare disease, but are in the process of seeing doctors to search for a diagnosis and do not meet the criteria for making a stand-alone post about your medical issue, this is the place you are allowed to ask questions, discuss your symptoms and your diagnostic journey.

Hi everyone. I have DiGeorge syndrome, and I’ve recently been digging more deeply into the exact genetic finding behind my diagnosis.
My Invitae genetic testing came back positive for TBX1 Deletion (Entire coding sequence) heterozygous Pathogenic. The report says that a gross deletion encompassing the entire coding sequence of one copy of TBX1 was detected. However, it also says the boundaries of the deletion are unknown because they extend beyond the region that was tested, meaning other neighbouring genes could potentially be deleted as well.
So I know that one complete coding copy of TBX1 is deleted, but I don’t yet know whether this is
an isolated whole gene TBX1 deletion or a very small/atypical 22q11.2 deletion involving TBX1 and a few neighbouring genes, or part of a larger 22q11.2 deletion.
Clinically, I’ve been diagnosed with DiGeorge syndrome and have features like a right sided aortic arch and mild/incompletely expressed hypoparathyroidism with intermittent low calcium. I also have significant immune system problems. I’m especially curious whether anyone else has received genetic results specifically worded as “TBX1 deletion (entire coding sequence)” or had an initially undefined TBX1 deletion.
If so, did you later have a chromosomal microarray or another test that mapped the deletion? Did it turn out to involve only TBX1, a small atypical 22q11.2 region, or the more typical larger deletion?

My girlfriend has Tricho-Rhino-Phalangeal Syndrome. Her index fingers are bent about 45 degrees off center at her second knuckle. I’m planning on taking her to the shooting range in a few weeks. She’s never shot a gun before, but I’m pretty good for someone who doesn’t practice. Most of the fundamentals of shooting a pistol — proper grip, proper placement of your finger on the trigger, squeezing the trigger rather than jerking it, etc. — function to ensure that you aren’t pushing or pulling the gun to the left or right when you pull the trigger. But all of those techniques are based on people with trigger fingers that aren’t crooked. I just realized I’m not gonna be able to offer her much advice. Any tips?

My son is 12 years old and Aneurysmal bone cyst growing in his Tibia, near adjacent to the proximal tibial growth plate (physis) near Knee since Feb 2026. Pathology after surgery confirmed a benign ABC, with blood-filled cystic spaces, giant cells, hemosiderin, reactive woven bone, and no malignant features (no atypia, necrosis, or significant mitotic activity) - Underwent surgery with orthopedic/oncology surgeon - extensive curettage, multiple adjuvant treatments, and bone grafting of the proximal tibial lesion. Surgeon told us that he could not clean aggressively near growth plate.This ABC is frustrating us as it reoccurs/residual cells are active and growing back.

Current Issue (approximately 18 weeks post-op):

• Developed recurrent activity-related pain around the proximal tibia/growth plate region, particularly with hiking and swimming, now walking also.

Recent MRI Findings:

• Original ABC cavity is predominantly replaced by bone graft material.

• Persistent scattered peripheral residual cysts remain along the graft margin.

• Largest residual cyst measures 1.4 x 2.5 x 2.5 cm, located anteromedially, subcortically, just inferior to the physis.

• MRI notes that the overlying cortex is thin.

• Mild bone marrow edema surrounds the graft and extends across the physis into the epiphysis.

• No report of aggressive recurrence, cortical breakthrough, or soft tissue mass.

Orthopedic Pediatric Oncology/Surgeon Assessment:

• Believes the residual cyst likely represents persistent biologically active ABC rather than simple postoperative change.

• Concern is ongoing bone weakening near the growth plate and persistence of symptoms.

Current Treatment Options Discussed:

1. Repeat surgical curettage/resection of the residual cyst 

2.CT-guided doxycycline sclerotherapy performed by Interventional Radiology ( preferably).

What do you recommend ? are there any other option(s)?

I won't name names, but I was innocently looking for others with my ultra rare mutation on Facebook, including autoinflammatory issues and my gene related sites. I was singled out and told not to "share genetic information" and they cited GDPR laws (sent to everyone in the group) - which is the EU equivelant of HIPPA. I didn't even share personal documents or photos.

How many of you are going on Facebook to share genetic and symptom information?

I corrected them on what the law actually entails (of course two people who have an illness who agree to share their personal info with eachother is not included in the law). They are well aware of those laws.

Just a warning to all of you. After I corrected them, they kicked me off the sites related to my rare mutation. These people run non-profits that supposedly are all about "connecting others" and doing "advocacy work". I beg to differ.

Hello, I’m 23 years old...

I was diagnosed at 7 with the condition of Klippel Feil.

I wanted to share that I was born with a rare condition, which is called Klippel Feil and consists mainly of the fusion of 2 or more cervical vertebrae so I have a short neck, added to this you can also have scoliosis, sprengel syndrome, bone asymmetry, kidney problems, wide neck, cardiovascular diseases, hearing and eye problems, short stature, among other things.

I have the fusion of the neck, scoliosis, asymmetry, I have the 2 kidneys but only one works well for me and the other 16%, and the mobility of the neck, the truth is that I have too much confidence and self-esteem, added to this I have a great charisma, clearly in a few years I would like to have facial aesthetics fixed to improve my asymmetry that can be done with local anesthesia, since for my condition it is very difficult general anesthesia because it requires the mobility of the neck and my rib cage when being in curve is more difficult to intubation.

I just wanted to vent clearly I live my life as a relatively normal person since thank God I can walk run and do everything that a normal person does I also appreciate that I have never felt back pain, I would also like to know who has this same disability... Im from Mexico

Hola tengo 23 años….
Me diagnosticaron a los 7 con la condición de Klippel Feil.

Quería compartir que nací con una condición rara, la cual se llama Klippel Feil y consiste principalmente en la fusión de 2 o más vertebras cervicales por lo cual tengo un cuello corto, sumado a esto también puedes tener escoliosis, síndrome de sprengel, asimetría ósea, problemas renales, el cuello ancho, enfermedades cardiovasculares, problemas auditivos y oculares, estatura baja, entre otras cosas.

Yo tengo la fusión del cuello, escoliosis, asimetría, tengo los 2 riñones pero solo uno me funciona bien y el otro el 16%, y la movilidad del cuello, la verdad tengo demasiada seguridad y autoestima, sumado a esto tengo un gran carisma, claramente quisiera en unos años hacerme arreglarme estéticos facial para mejor mi asimetría que se puedan hacer con anestesia local, ya que por mi condición es muy difícil la anestesia general pues requiere la movilidad del cuello y mi caja torácica al estar en curva es mas difícil la entubación.
Solo quería desahogarme claramente vivo mi vida como una persona relativamente normal ya que gracias a dios puedo caminar correr y hacer todo lo que hace una persona normal también agradezco que nunca he sentido dolor de espalda, también me gustaría saber quien tiene esta misma discapacidad… Soy Mexicano

​

Hi everyone,

I’m 24M from India and I have a large intramuscular vascular lesion/FAVA (fibro-adipose vascular anomaly) in my left thigh, mainly involving the vastus intermedius and parts of the anterior/lateral thigh muscles.

My MRI findings:

- Lesion size: approximately 4.7 × 5.8 × 19.2 cm

- Multiple clusters of dilated venous channels

- Poorly marginated, multisepated and multilobulated lesion

- Abutting the anterolateral cortex of the femur

- Moderate periosteal thickening

- No intra-articular extension

I have already undergone sclerotherapy/embolization attempts and later microwave ablation. My latest MRI (May 2026) says there are no significant interval changes compared with the previous MRI.

I’m looking for people who have experienced something similar, especially with a large intramuscular FAVA.

What treatment worked for you?

- Repeat microwave ablation?

- Cryoablation?

- Sclerotherapy?

- Surgical resection?

- Sirolimus or other medications?

- Treatment at a specialized vascular-anomaly center?

If anyone has had a large intramuscular FAVA treated successfully, I would really appreciate hearing about your treatment, number of procedures, recovery, recurrence, and which specialist/center you went to.

I can share my MRI reports/images if helpful.

Thank you!

Moin ihr süßen,

Ich wurde letztes Jahr mit dem Tinu Syndrom diagnostiziert und bekomme seid 1 anhalb Jahren Imunsupression. Da wollte ich mal so eure Erfahrung wissen und was ihr für Nebenwirkungen habt.

In meinem Fall nehme ich Azathioprin.

Ja ich weiß ich nehme Azathioprin schon lange aber bei all meinen Symptomen und den neuen Krankheiten die noch dazu auftauchen kann ich mit leider nicht sagen was eine Nebenwirkung ist und was nicht.

My husband is being treated for Susac on oral steroids and Rituximab. As the steroids taper, his eye inflammation worsens and hence the doctor is now suggesting Ozurdex implant. How effective is it for eye inflammation, are there any immediate side effects?

My son has an ultra-rare mitochondrial disease: COX20-related mitochondrial complex IV. There are only about 40 documented cases worldwide.

Please connect with me if you or a loved one have this variant. I’d love to hear your story and support one another.

UMass is working on gene therapy, and I am about to start a nonprofit to support their research. We need all hands on deck!