Lorelei's Fight with Dyskeratosis Congenita

I am collecting donations for my sweet niece who isn't even 2 years old yet and already going through so much. 



This is her journey 

It’s been a hard month. What once was a diagnosis of anemia or ITP has now snowballed into a whole plethora of things. With it there have been a lot of emotions, hard days, and tears.

Rori is one of the sweetest souls you will ever meet. Watching her go through this all has been one of hardest things.

So here is the what we know so far:

Lorelei is being seen at Boston Children’s to determine if she has a retinoblastoma or Coat’s disease. They could not get a good enough look and need to put her back under anesthesia with a retina specialist. They believe that her left eye has little to no vision at this point and they are trying to save vision in the right eye. Her left retina is almost completely detached. They do not think she will regain vision.

Her brain scan came back abnormal and she has fluid in places she shouldn’t. They believe this is why she is not growing. There were more to the scans that I cannot comprehend and we have an appointment scheduled to discuss it further. We need to have a CT scan next and further tests on Monday.

She still has low platelets but no interventions needed so far. They believe that her bone marrow failure is not related to her eye but still unsure. They are looking at mitochondrial diseases, Niemann Pick, and a few others. Her bone marrow aspiration was scheduled for this week but she was too sick to do it. Her eye is now a priority and they have rescheduled this for two weeks.

They are working on scheduling her chromosomal tests but the cost is astronomical and they are waiting to find a company that will allow us to self pay in payments. Fingers crossed they find one soon!

No parent should have to worry about medical bills. They should just be focusing on giving all their love to their child.

I am gathering donations so they can do just that.

Thank you and God bless



There has been a lot of discussion around what is going on and it now sounds like there is more than just one cut and dry answer.

I don’t know if she will ever walk or talk. I don’t know if she will lose all of her vision. I don’t know if she will ever outgrow her 12 month clothing.

But I do know that she is strong. She loves life and does all of the things most toddlers do. She plays, laughs, and sings. She tried to stand and cruise on furniture. She loves the slide at school even though she is suppose to not be a dare devil!

Lorelei girl- keep fighting. We love you so much. ❤️

Thank you to everyone who has been reaching out. We are taking this all one day at a time and I can’t be more thankful for everyone who has been there for both Zack and I, Lorelei and Amelia.