There has been one outstanding mystery we’ve been puzzled by. Why did Clark’s retina detach, and why did it go so bad, so quickly? Was it caused by DKC specifically, or was it an accident and DKC was the reason it didn’t heal? Was it totally unrelated? We really weren’t sure up until about a week ago.
On August 29th, UCSF had a visiting scholar give a speech on Dyskeratosis Congenita (DKC), Dr. Tony Xiao. Dr. Xiao was a visiting dermatologist who was studying the skin and nail abnormalities with BMT patients. After spending a month with the BMT team at UCSF, he wanted to speak on a topic that covered both dermatology and bone marrow transplants. DKC was the perfect topic. Some of the early signs of DKC are fingernail and toenail dysplasia, leukoplakia of the mouth, and pigmentation abnormalities of the skin.
Dr. Xiao came by to take a look at Clark and talk to us. My first question to him was whether he thought Clark’s detached retina in his left eye was due to his DKC? He responded by saying, “…typically no. Eye problems are not usually associated with DKC, unless there are brain calcification as well… ”
To which I answered, shocked, “actually, he has brain calcifications…” According to a CT scan we had 8 months ago as well as an MRI 3 months ago, Clark has scattered spots of calcification throughout his brain. So I was instantly curious… “what does that mean??”
Dr. Xiao then said, “Oh… Then that means that Clark has Revesz Syndrome.”
And there it was… an exact diagnosis (or at least as exact as we can expect with this relatively unknown condition). Clark has Revesz Syndrome. We finally know exactly what we are dealing with.
Revesz syndrome is a specific variant of Dyskeratosis Congenita.
Features that distinguish Revesz syndrome from general types of dyskeratosis congenita include:
- excess fluid in the retina of the eye (exudative retinopathy)
- brain abnormalities such as cerebellar hypoplasia
- cerebral calcifications that lead to unsteadiness and balance problems
- Growth retardation both in utero and after birth
- Cognitive impairment is greater as well
Up until this point, we really didn’t have any correlation between the DKC and his eye problems. But finally bringing it all together, we can better know what to expect in the years to come.
Why did it take so long to get here? From what we understand, DKC is a very new disease. Every doctor we spoke with about DKC had to run into a darkly lit library and read up on it before answering any of our questions. So most of the answers we received were just paraphrasing of medical journals, rather than speaking from experience. It was nice to have a team with enough practical experience to finally put the two together.
Thank you UCSF!
It can only be viewed as a positive that a diagnosis has finally been made. Wondering can drive one crazy. It’s better to know exactly what is going on. I am so happy that Clark is receiving care at such a fabulous facility. Big hugs to the UCSF team!
Hugs and Love to the Hundal family!!
Well, looks like Clark really cut to the chase.
“The most serious consequence of this disease is bone marrow failure, and the only long-term cure has been with stem cell/bone marrow transplantation”
This boy is one tough mudder, proud to have him as my little nephew.
Wow, lots have happened in the last few days. But as always, your positive outlook carries you through. Glad that with a diagnosis you will be able to better make decisions and handle problems. You are awesome parents.
Clark, life is just going to get better as you recover.
Hugs, Kanval