BOR Syndrome

Breaking news: Joe's nephew's wife had their baby boy (Randall) last night and he has holes in both ears -- the same hole that Logan had in his neck!

Many of you were not readers when I started this blog, so to briefly summarize: Logan was born with what is called a brachial/branchial cleft fistula in his neck. It is a tiny hole that can be found in the neck or ear (the entrance or exit of the sinus tract). It is caused during the sixth week of gestation when our bodies fuse together. When there is an interruption in the process, a hole is left.

Considering that eight people that we know of in Joe's family have this, we assumed there is an actual gene that causes this interruption during the fusing process. However, Logan is the only recipient in Joe's family to have it in his neck (that we know of), so at ten months old he had surgery to close the hole so that there would not be an infection in the future. The ear gets infected as well (and often has for those in Joe's family), but it's more of an annoyance that goes away with antibiotics. Whereas, the neck's worst case scenario is death. . .so even though it would be extremely rare, we didn't want to be worrying about the fistula for the rest of Logan's life (at the time I was already noticing every time it drained fluid and was preoccupied about something going in the hole).

The procedure was simple and painless and successful. Logan never even knew anything unusual happened that day since he was sedated while playing and didn't have any discomfort afterward (no need for pain medication). The scar is hardly noticeable now.

But, during those eight months (we learned about it at Logan's two month check up), I researched what I could. But there still isn't that much information on the web. The information that is there is rather hard for the "average" person to understand. So, I wrote a few posts about it which can be found here.

Anyway, Joe's mom called me tonight because the parents of the newborn couldn't remember the term to tell their pediatrician (because their pediatrician is unfamiliar with BCF). I decided to look up the latest on it (since it's been two years) and was shocked. Shocked that I didn't find this before. Shocked that our pediatrician or ENT never mentioned it. Right here in Omaha, at Boys Town, they have identified a gene that causes a condition known as BOR Syndrome and are looking for people who have this so that they can study the gene more which will then offer treatment for those who have a serious case of BOR Syndrome.

BOR Syndrome is usually only diagnosed when a person has hearing loss or kidney problems. Otherwise, a person may never know they have it. Here is what the article from Boys Town said:

Ear pits are found in about 80% of BOR cases. An ear pit is a small hole immediately in front of the top of the ear. Of those persons with ear pits, some have only one while others have one in front of each ear.

About 60% of the BOR cases have branchial cysts or fistulas which are small holes located on the front, external lower third of the neck. Some of these open into the throat and may drain fluid from time to time. People with branchial cycts or fistualas usually have two (one on each side); however, some only have one. Because they often become infected, branchial cysts or fistulas are often surgically removed.

Kidney anomalies are found in about 15% of those with BOR. Most of the anomalies have minimal clinical significance and consists of minor changes in the anatomy of the kidney or urine collection system. Kidney function is normal in these individuals. Because these persons have no clinical reason to view the kidney/urine collection system, these changes may be more common than we think. More severe kidney anomalies have been reported. These range from small, normal functioning kidneys all the way to the kidneys (one or both) being absent.

BOR is a dominant genetic condition. Genes are found on the chromosomes in the nucleus of each cell. Chromosomes come in pairs (there are two chromosome number "1s", "2s", etc.) and humans have 23 pairs of chromosomes. Each of us received 23 chromosomes (one of each pair) from each parent. Since chromosomes come in pairs, genes also come in pairs. Genes carry the necessary information to cause a single cell, the fertilized egg, to grow into an adult human being. Geneticists estimate that each of us probably have several genes which do not function properly. The scientists call this a mutation (a change in the genetic material). Usually these mutations do not cause problems because the other gene of the pair performs the intended function. However, in dominant genetic conditions it takes only one mutated gene to cause the syndrome.

BOR is caused by the EYA1 gene on chromosome 8. When the family tree of a family with BOR is constructed, you will usually find the syndrome in every generation. When a person with BOR has children, each child has a 1 in 2 chance of receiving the gene which causes BOR.

That gave me shivers to read because it sounds very possible this is the very dominant gene that is being passed on in Joe's family. I am seriously considering contacting our pediatrician to find out if he's familiar with BOR Syndrome and how we learn whether Logan does have this condition and what that means for him. (I might even contact Boys Town since it is right where I live!) As of now, his hearing is excellent and his kidneys have posed no problems, either. As far as we know, there have been no kidney or hearing problems among others in Joe's family, either. But it is something to be aware of for continuing generations.