Number 61: The Conversation

>> Monday, June 22, 2015

We had expected the call to come the next week (this week) and were quite surprised to be at lunch on Friday, June 19th, 2015 when the good Dr. called to tell us he had received the confirmation earlier than he thought.

He explained that they sent away for the assay from California and when they received it, it didn't work. So, they made their own. One point for the Dr. and I told him so. Glenn never makes assay's for me. 

So they made the assay, and they ran it. A few times. They wanted to be absolutely sure before he called us. We were in a restaurant and I told him I would call him back. An hour and a half later, right before meeting with some wonderful folks in Ogden about helping with the Epilepsy Association of Utah, Northern Region, I called and left a message. As we were finishing the meeting and laughing, he called back. I ran to get Glenn and we headed out to the car. 

We listened as he detailed what had occurred to get us to this point. He told us that Bug was unique in the entire world. 

Well, we know that, but he told us why.

Bug has an insertion in the location that they have NEVER seen before, all of his KBG symptoms will be different, even though KBG symptoms run the gambit anyway. HIS will be all his own. And from our research, we have verified this to be a factual statement. So far, his seizures are the absolute worst part of his presentation. Whereas, seizures are not the most common in KBG patients. The short stature and bone growth issues seem to be the most common. Bug is short, but we are more concerned with the seizures and developmental delays. 

KBG was first identified in three families using research based on the work of Dr. Opitz and others, who is now at the University of Utah: 

"Herrmann, J., Pallister, P. D., Tiddy, W., Opitz, J. M. The KBG syndrome--a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. Birth Defects Orig. Art. Ser. XI(5): 7-18, 1975."

Dr. Opitz has been quoted as having a preference for naming findings based on the families affected by using the family's initials.  I've yet to find out the surnames, but I haven't been looking at the naming convention so much as the treatment and prognosis. And the treatment is not uniform. It's as symptoms present, and apparently, those change with time as well. We are left with looking at gene therapy to truly help him and we may have that option. But I get ahead of myself, we haven't even spoken with the Dr face to face or anyone that might be able to guide the treatment plan.

The most common symptoms:

  • physical abnormalities of the head and face (craniofacial dysmorphism)
  • Fibrous joints (coronal sutures) between certain cranial bones of the skull may close prematurely; as a result, the head may appear unusually broad, short, and/or rounded
Characteristic facial features may include:
  • eyes that appear widely spaced (telecanthus) or crossed (strabismus)
  • wide, bushy eyebrows
  • and/or thin, bow-shaped lips
Characteristic features may also include:
  • abnormally large teeth in comparison to the jaws (macrodontia)
  • jagged, crowded, or misaligned teeth
  • and/or unusually short, flattened, supporting bones or sockets of the jaw (mandible) that house the teeth (alveolar ridges)
  • short stature
  • speech and hearing impairments
  • and/or have mild to severe levels of mental retardation
In some cases, mental retardation may be attributed to a small head in relation to the rest of the body (microcephaly)
  • abnormal bone development (skeletal dysplasia) such as malformations of the bones of the spine (vertebrae)
  • shortened middle portion of the thigh bones (femoral neck)
  • abnormally developed hip bones (hip dysplasia)
  • and/or shortened, hollow finger bones (metacarpals)
Features may include
  • a sunken, pushed-in appearance of the chest (pectus excavatum or “funnel chest”)
  • webbing or fusion of the middle toes (syndactyly)
  • a single deep crease across the palms of the hands (simian crease)
  • and/or six fingers or toes on one limb (hexadactyly)
The number and severity of these symptoms vary widely among affected individuals.

We spent 40 minutes on the phone, listening, asking questions, trying to take in EVERY little detail. When we hung up, we agreed to meet in person this week and talk details. The good Dr will try to answer our questions and we will talk about where we go from here. The one thing that really stood out was there is no support group or foundation for this syndrome. I looked at Glenn and he said: yep, I know. You'll make one.

We have started building the KBG Foundation, I mentioned this is his diagnosis post but we have progressed a little further. The Foundation will be an affiliate of the Epilepsy Association of Utah until the NPO paperwork can be filed. I will be too busy to file the paperwork immediately so having the little extra time will be helpful.

In the last 3 days, TWO families have been identified and I have spoken with one of them and sent an email to another. We know there are a few families in Turkey that I have yet to be in contact with, but I need to find someone to translate...any takers?


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