Well since going to the ENT yesterday I have been doing a lot of online reading regarding the bifid uvula and I hope this doesn’t scare anyone who is reading, but I do want to share with you a few things.
First of all a bifid uvula alone is not a big deal and like I said in my post yesterday can be treated with therapy to help improve feeding. Let me continue by saying that I am clearly not a doctor, I do not have any medical training or education and I can only be an advocate for Reece, not a doctor. I say this because I could be entirely wrong about my gut feeling.
As I was reading yesterday I came across a picture of bifid uvula/cleft palate, hypospadius and a set of conjoined two and it sparked my interest since Reece has all 3 of these genetic anomalies. As I was viewing the picture I found that the three pictures were linked to symptoms of Smith-Lemli Opitz Syndrome. I know, it sounds scary and to be honest with you it is. (again this is NOT a diagnosis, but something I felt I should look into). SLO is a genetic disease that pretty much affects the entire body depending on how severe or mild the case might be.
The symptoms I have come across are as follows and I have bolded and added a few comments about each of them…
• Intrauterine growth retardation (IUGR) is common, as is short stature or abnormally low weight for height, altered muscle tone (hypotonia), and often a distinctive shrill cry.
This is what Reece was labeled as in April because of his size.
• Rarely, hydrops fetalis occurs.
This is a build up of addition fluid in the stomach and does not apply to Reece
• Congenital anomalies evident upon physical examination may include the following:
o Microcephaly
This is when the head measures two inches smaller than what it should for the babies average size; Reece has always measured equivalent to his body size and identified as proportional
o Broad nasal tip with anteverted nostrils
If you look at pictures online of what this looks like, it looks like most other noses. Reece’s is slightly turned upward, but not a big red flag to me.
o Micrognathia
This is when the jaw/chin is slightly smaller than it should be and can cause feeding issues; so far nothing has been said about this for Reece, but we don’t fully understand his feeding complications yet.
o Ptosis of eyelids
This is when the eyelid(s) slightly droops and they eyes are rather squinty. Nothing has ever been said about Reeces eyes but his Right eye at times is “closed” more than the other at times. Again not a big red flag to me.
o Epicanthal folds
This has to do with the shape and the folds of skin around the eyes, but I could not tell the difference really in what was considered abnormal?
o Strabismus
This is related to the muscels of the eye; cross eyed,lazy eye etc.
o Cataracts
With this they MAY develop with time & age
o Broad maxillary alveolar ridges
This has to do with the roof of the mouth and gums: I don’t know if it applies or not.
o Slanted or low-set ears
I don’t feel this applies to Reece.
o Syndactyly of second and third toes
Reece does have a slightly webbed 2nd and 3rd toe with the right toe being slightly more pronounced.
o Postaxial polydactyly
This would be an extra finger or toe which does not apply to Reece.
o Hypospadias or cryptorchidism in males and, occasionally, complete sex reversal (ie, 46,XY females)
This does apply to Reece.
o Cleft palate
This does apply to Reece. Eeven though he doesn’t have a cleft palate the bifid uvula is an equal sign related to cleft, but isn’t exactly cleft.
o Heart murmur or cyanosis or respiratory distress secondary to congenital cardiac defects
Heart murmur at birth related to a small hole- doctors felt this was related to his prematurity
o Abnormal palmer creases
Usually one solid crease that runs across the hand; does not apply to Reece
o Undescended testicles
This does apply to Reece since his testicles are positioned up higher
o Pyloric stenosis
This is a feeding issue that has never been tested for Reece but was talked about as a possibility in the very beginning.
o Short thumbs
To me Reece’s look very normal
o Hirschsprung disease (absent nerves in colon)
Reece has never been tested or diagnoses with this. However it is heredity and this is the same problem that Ryan’s brother passed away from and while Reece seems to stool pretty reguarly he does get a lot more juice compared to Jason and his stools are usually rock hard.
“Some children will have only one or two minor malformations, such as webbing of the toes and cleft soft palate, whereas others will have almost all of the defects listed above. Because of the possibility of internal malformations such as heart or kidney defects or liver disease, patients with SLO/RSH Syndrome should be evaluated carefully at birth. Often, children with SLO/RSH Syndrome resemble one another more than others in their families. Prior to 1993 the diagnosis of SLO/RSH Syndrome rested entirely on the clinical judgment of a geneticist or other specialist. Now, a biochemical test (mass spectrometry) for abnormal cholesterol metabolism is used to confirm a suspected diagnosis of SLO/RSH Syndrome. Although lifespan can be limited by serious internal malformations, with good nutrition and medical care a normal lifespan is possible. The major medical problems of children with SLO/RSH are in the areas of feeding, growth, and development.”
Now with all of this being said and after reading about it yesterday I called my pediatrician to inform her of the bifid uvula. Her response before even speaking of SLO was “Doesn’t that now put him with a few genetic anomalies?” and I said ya and started naming them and she said yes I thought last time when he was in the office that the toes and hypospadius was concerning because like I have said when you have one genetic problem you go ok…but more than one you have to start really watching carefully. I then asked her about SLO and she too started naming off characterizes that I had noticed and said she defiantly wants Reece to see a genetic specialist.
I called today to Texas Children’s/Baylor downtown and they could see him January 7th. I left a message for Dr. Smoot because she had asked me to called her with my appointment time once I had it and she would check to see if it would be possible to get it any sooner. I sort of doubt it because at first it was January 21st but then she had a cancellation for the 7th.
Again I am not a doctor and without a blood test from Reece you can’t say for certain yes or no. I spoke with the genetic counselor who did my amnio back in April and SLO is not covered under that test because the amnio tests for only extra or missing chromosomes, but after talking she said she too would certainly investigate and see a genetic specialist. Soooo here we go down yet again another path…
The two sites I have been really reading and looking at the most are listed below if you want to read in more detail. Again let me remind you we are NOT saying this is what Reece has, we are simply just trying to rule out any possible genetic problem by seeing the specialist. SLO is simply just something I came across that seemed alarming and possible.
http://www.smithlemliopitz.org/slomain.htm
http://emedicine.medscape.com/article/949125-overview
