r/rarediseases

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 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.

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 and I are both carriers for a POLG-related mitochondrial DNA depletion disorder. Im currently pregnant and our CVS results showed that the baby inherited both of our familial variants.

My variant: POLG c.2209G>C (p.G737R)
My husband’s variants: POLG c.[752C>T;1760C>T] (p.[T251I;P587L])

Has anyone had experience with either of these variants, or especially this specific combination? I’m looking for any information about known cases, phenotype/severity, or personal experiences with an affected child.

We’ve been having a really difficult time finding information about this particular combination, so any insight or resources would be greatly appreciated.

I hope this is the right place to post this.

We have been on a journey for what started as seeking a diagnosis for my daughter. It slowly turned to realizing it spans across multiple maternal generations.

High on our list was a mitochondrial disease type of issue. I have a maternal nephew that passed from Leigh’s Syndrome so their focus has been there for the last few months.

My WES and WGS both show that I am a carrier for chr14:32319298 T>C. The issue is, my daughter is not and we share a very similar phenotype.

With that being said, it’s still something I’d like to explore since my sister, mother and I all have adult onset decline. I’m reading that it’s possible to have adult onset symptoms with certain mutations.

Has anyone been diagnosed after only being a carrier and not fully homozygous for something considered an autosomal recessive disease?

I think I am finally grieving reality.

The fact that I cannot outsmart this.
⠀
I cannot out-research it.
⠀
I cannot outmaneuver it.
⠀
I cannot be organized, informed, persistent, or medically literate enough to force certainty out of a situation where certainty does not exist.
⠀
Accepting Long COVID and hEDS has meant accepting that I no longer understand what is happening inside my own body.
⠀
I no longer know which symptom belongs to which diagnosis.
⠀
Which abnormality is meaningful.
⠀
Which problem should be treated first.
⠀
Which treatment will help.
⠀
Which treatment could leave me worse.
⠀
I used to believe that if I worked hard enough, learned enough, found the right experts, and asked the right questions, I could eventually solve almost anything.
⠀
That belief helped me survive.
⠀
Now it is breaking apart.
⠀
I can’t find the right in-network sub-sub-specialists who understand rare disease, accept new patients, offer virtual appointments, and are willing to treat someone who is mostly homebound.
⠀
At least not fast enough.
⠀
When I do manage to leave my house, I still can’t always get the right MRI protocol.
⠀
The right CT scan.
⠀
The right angiogram.
⠀
The right radiotracer.
⠀
The right organ or vein examined by the right radiologist, surgeon, or rare-disease expert.
⠀
That’s only after battling insurance for whatever scraps of diagnostics they’re willing to give me.
⠀
My future no longer feels like something I am moving toward.
⠀
It feels like the ground beneath me is slowly collapsing.
⠀
At first, the changes were small enough to adjust around.
⠀
Now, every month seems to remove another piece of stable ground before I have learned how to stand without the last one.

Like my whole life is a small pile of sand slipping through my fingertips faster and faster each month.
⠀
When I finally make it through this soul-sucking obstacle course for just one tiny component
of my increasingly complex anatomy, after no less than 8 full months of research, appointments, imaging, referrals, denials, appeals, and relentless self-advocacy.
⠀
Then, if the symptoms, imaging, doctor, and available treatment somehow cosmically align,
I am left gambling with an irreversible decision.
⠀
Maybe there is a 60% chance that 20% of my symptoms could improve.
⠀
Maybe the evidence comes from a tiny group of 10 patients studied more than a decade ago.
⠀
Maybe it helps, assuming nothing goes wrong.
⠀
Assuming we are treating the right problem.
⠀
At the right time.
⠀
In the right order.
⠀
Assuming it helps more than it hurts.
⠀
Assuming it isn’t all in my head.
⠀
The immediate decision I am facing is whether to have a styloidectomy for vascular Eagle syndrome.
⠀
I am terrified that we could be wrong.
⠀
That I could make an irreversible decision, be left with a permanent scar across my neck, and experience no relief.
⠀
Or become even more disabled.
⠀
The fact is that there is not enough evidence to make the decision feel safe.
⠀
But doing nothing does not feel safe either.
⠀
This is really happening.
⠀
A virus stole my life, my future plans, my hopes/dreams, my appearance, my relationships, and so much of my physical, cognitive, and creative ability four years ago.
⠀
The science cannot keep up.
⠀
I feel like I am getting sicker faster than I can understand why.
⠀
The best doctors, surgeons, researchers, and experts do not have consensus on how to treat all of these problems, let alone when they occur in the same patient.
⠀
They are doing their best, but they often do not know how to help us.
⠀
I could spend everything I have.
⠀
I could have three surgeries a year.
⠀
I could keep pushing through three to six specialist appointments, procedures, and tests every week.
⠀
And I still might never get better.
⠀
I can find every “world class” expert.
⠀
Read every study.
⠀
Analyze every appointment.
⠀
Ask every possible question.
⠀
I can make the most logical, data-driven decision available using the best information that currently exists and still be gambling with greater disability.
⠀
Sometimes it feels like I am gambling with survival.
⠀
I can survive the false hope.
⠀
The poking and prodding.
⠀
The medical gaslighting.
⠀
The scars and scar tissue.
⠀
I can try every supplement, diet, medication, physical therapy protocol, nervous-system program, and biohack anyone recommends.
⠀
I can be the perfect patient.
⠀
I can try so damn hard.
⠀
But I cannot force medicine to have answers it does not have.
⠀
I cannot guarantee that the next procedure will be the right one.
⠀
I cannot research my way into certainty.
⠀
I think that is what I am finally grieving.
⠀
Not only that I am sick.
⠀
I am grieving the loss of the belief that intelligence, persistence, and perfect self-advocacy can protect me from making the wrong decision.

I am grieving the idea that the best science and doctors in the world would have answers for me.

The hope that they would be confident in their treatment recommendations.
⠀
There may never be enough information to know what the right choice is.
⠀
And yet, I still have to choose.

I have to be the one to decide how much suffering I can really take, which data I believe, which expert is most skilled or certain, if I’m desperate enough to risk everything for 10% better.

If I make the wrong choice, I am the only one living with those consequences.

I am the only one responsible for cleaning up the aftermath.

I am the only one responsible for my own survival, for accepting that despite losing so damn much of myself I could always lose more.
⠀
I have a feeling other people with Long COVID, ME/CFS, hEDS, dysautonomia, or other complex illnesses understand this particular kind of grief.
⠀
How do you live with having to make life-altering medical decisions when there may never be enough evidence to know whether you are choosing correctly?

Oh, I’m truly just venting here. There’s nothing to do but feel sorry for myself! I have been trying to find a new allergist that specializes in indolent systemic mastocytosis, or at least has familiarity with the disease. I made an appointment with the local mast cell expert, but he’s concierge only, and I just cannot afford him.

I made an appointment with a different doctor, an allergist who treats mast cell disorders, and my appointment was scheduled for November.

A couple of months ago I got a message in mychart, offering me an earlier appointment for September, and of course, I jumped on it!I was so relieved that I was going to get in sooner.

However, on Tuesday, I got a message that my appointment had been canceled due to the providers schedule changing. Now I can’t get an appointment until January with him.

Finally… Today I got a message that they changed my appointment to a different date in September, however I’m going to be out of town that day. I’m so frustrated. Why does the schedule keep changing??? 😩