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This one is about: Stickler Convention, July 1998
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Two parents, Nancy & Melissa, attended the Second Annual Stickler Involved Convention and here are their medical notes:
I guess the 2 highlights of our trip were meeting Dr. Stickler. Nancy and I had our picture made with him and I got 2 pics of Dr. Stickler holding Hannah also. They will be on our web page by tomorrow night. Another highlight was seeing appox. 150 - 200 new stickler faces. There were probably about 50 or so Stickies at the Convention, but all the physicians who presented had slides of Stickler patients they had treated. All together, it was like seeing close to 200 new stickler faces. The resemblance was amazing. It is hard to even describe the resemblance of everyone. When seeing infants and children, in person and from slides, front views and profiles - it was like looking at a huge scrap book of MY CHILD!!! My Gosh - Even my husband said that he doesn't care what any geneticist tells us, debating the stickler diagnosis - from seeing these 200 faces - there is no doubt in our minds that our child has Stickler Syndrome.
Another highlight - (I guess that makes 3) was that we had a special dinner on Saturday night. My husband and I sat at a table with Dr. Lieberfarb - who according to Dr. Stickler has seen more Stickler patients than any other physician. She is a pediatrician and geneticist in Boston and has been doing Stickler case studies for 30 years. The information that follows is from her studies. We also sat with Dr. Doug Wilkins who is heading the research being done at the NIH (National Institute of Health). He was given a grant for Stickler Research and has a 5 year study in progress - for which we all signed up to be a part of. It was wonderful being in a relaxed atmosphere with 2 of the top Stickler researchers in the world.
Ok, here is some of the information that I copied from various slides that were presented at the conference. Statistics were given from 3 different studies, but I decided to give you the results from Dr. Lieberfarb's study because according to Dr. Stickler, Dr. Lieberfarb has seen the most Stickies.
These are all from my notes that I took from Dr. Lieberfarb's presentation. Her study was based on 174 Stickler patients, ranging in age from 2 years to 80 years old. The incidence of Stickler Syndrome is 1:10,000.
These were the findings in her Stickler Studies:
Myopia - 75% (another study done in Washington suggests the number is 85%)
Vitreous Degeneration - 82%
Maxillary Hypoplasia - 86%
Depressed Nasal Bridge - 73%
Hearing Loss - 87%
Long Philtrum - 67%
Small Chin - 58%
Astigmatism - 64%
Mitral Valve Prolapse - 50%
Cataracts - 47%
Hyperextensible Joints - 38%
Premature Arthritis - 37%
Strabismus - 27%
Cleft Palate - 17% (This number was much higher from another study done at the Philadelphia Childrens Hospital/ Craniofacial Clinic)
Glaucoma - 11%
Marfanoid Body - 10%
Dr. Lieberfarb also found that 72% of the cases she studied were from autosomal dominant inheritance. The other 28% were new mutations.
An eye specialist also spoke at the Convention. Here are several interesting points that he made:
The average (mean) refraction for a Stickler eye is - 8.7 diopters.
He has seen a baby as young as 9 months of age with a detached retina. He also stated that retina problems do not have to be present at birth, during childhood, even during adulthood for Sticklers to be present. Some stickler patients never have retina problems. Some are not even nearsighted. Myopia is, however, one of the biggest indicators of Sticklers.
A Cleft Surgeon from Children's Hospital of Philadelphia spoke a lot on Pierre Robin Sequence. According to a graph that he displayed from results of a Washington study Pierre Robin patients present with:
35% have Sticklers
30% have isolated PRS
17% have another named syndrome
18% have an un-named syndrome
Also according to this study it was found the mandible of a NON syndromic PRS will grow in the first year of life.
With a Syndromic PRS - the chin will not fully grow until the age of 3 - 5 years, but the airway problems will get better within the first year. (There is also no correlation between Sticklers and unsuccessful palate repairs.)
Well, I have more information if anyone is interested. I am sure that Nancy took lots of notes as well. I just decided to share some of the more scientific findings that were shared over the weekend.
We had a great time. My girls had a blast. Hannah didn't know what to think about all the other kids with glasses and hearing aids. Shawn learned a lot, too, which I thought was great. There were lots of dads there and it was great to see so many adults so involved with their children's conditions.
When looking through my notes I realized I failed to mention something very important - According to a geneticist from Children's Hospital of Philadelphia a diagnosis for Sticklers MUST be made clinically NOT genetically. Right now, science just doesn't know how many different stickler mutations are out there. So, having said that - this is what she said would make an accurate clinical diagnois:
If a child or infant has early onset of myopia being -5 diopters or greater then that child would also need to possess only ONE more of the following to have Sticklers:
1. Retinal detachment
2. Degenerative joint disease
3. Cleft palate
She says that 85% of Stickler cases will have the early onset of myopia.
In the remaining 15% that do not have early onset of myopia then the following must be true for a Stickler diagnosis to be made:
A 1st degree relative must have had early onset of myopia and 2 characteristics from the "minor group". The patient must present with one characteristic from the major and 2 from the minor group.
The major group is: spontaneous retinal detachment, congenital vitreous anomaly, degenerative joint disease.
The minor group is: midface hypoplasia, stickler facies (which could include cleft palate, hearing loss)
I hope this isn't too confusing. I was a bit confused while they were discussing it. There were some more categories, but this was all I was able to write down. So, this list is only a partial listing of the minor and major groups. Sorry...
I took basically the same medical info that Melissa did, so I won't repeat it. I had the great pleasure of sitting next to Dr. Stickler both days. He is an incredible man and offered me lots of insight during the conference. If he didn't agree with a doctor doing the presentation, he would lean over and say "not true" in that heavy German accent! He looked at the pictures I had of David. I drug several albums on the plane with me and he noticed the "sticky" face in his younger pictures.
Some things that I learned, aside from the medical statistical stuff:
1. No doctor can predicate the future. (From Dr. Stickler himself)
2. Every child is different and is affected differently.
3. Stickler affected individuals look alike (that was amazing!) Dr. Stickler and I could pick out those affected with SS as they walked in the door. I finally quit asking "Who in your family is affected?"
4. Children with PRS need to be followed closely for signs of Stickler.
My own son was not diagnosed until he was almost five. I don't want to scare anyone, but make yourself aware of the symptoms. There are many doctors who do not know what Stickler Syndrome is or what it involves. Our SIP group plans to change that.
5. PRS kids with SS tend to have more respiratory problems.
6. Look to the future, always look ahead and make plans.
7. Educate yourself!
This conference was simply amazing. I don't think I had a real good knowledge of SS before I went. David's symptoms range from both the most common to the least common. It was wonderful to meet the 25 families that were there. I am grateful for the internet and the ability to get information about all of these medical issues.
Nancy B, mom to David (age 10 with PRS, SS)
Ok, according to the doctors/geneticists/researchers who were at the Convention - a Stickler diagnosis can be made if: Your child is nearsighted and a refraction of -5 diopters or more and if they have a cleft palate. It is as simple as that. They must be nearsighted and have a cleft. 85% of Sticklers fall into this category.
Now, if the child does not have -5 diopters or greater then there is another set of criteria that must be met before a Stickler diagnosis can be made. According to studies - 15% of Stickler patients are NOT nearsighted, but they have other characteristics that give the diagnosis.
Must have ONE of the following:
A parent who has early onset of myopia and the parent must have 2 of the following characteristics known as the minor group: midface hypoplasia (flat midface), Stickler face - (small chin, flat nasal bridge, cleft palate, hearing loss, long philtrum), osteoarthritis. The philtrum is the area between the nose and the top lip.
In addition to the parent findings the child must present with ONE of the following: spontaneous retinal detachment, congenital vitreous anomaly, degenerative joint disease. And the child must have TWO from that "minor group" that I mentioned above.
As you can see, it is rather easy to make the diagnosis if the child is nearsighted -5 or greater.
However, when the child is not nearsighted, the diagnosis is a little harder and more confusing to understand and make.
Like I said before - 85% of cases deal with the myopic child, so when a child is nearsighted they are much more likely to get an accurate diagnosis. It is the other 15% that are not nearsighted that a diagnosis can be missed.
Now, a Stickler face - basically it is a small chin, small nose, flat nasal bridge, flat midface - (but I have also noticed that many with sticklers also have flat foreheads) - usually they have large eyes due to the myopia. These features seem to be more noticeable during infancy and childhood than they do as adults. Strabismus - I may be wrong - but I think that is when the eyes move involuntarily. I could be completely wrong. You might want to ask someone else about that one.
How old is Justin?? If you would like, tell me his age and I will send you a picture of Hannah at the same age and you can compare pics. Be sure and send me your private email address.
Marfan Syndrome is another syndrome sometimes confused with Stickler, because many of the characteristics are the same. A "marfanoid boy" is one that is VERY long and slender. The fingers are so long they have a term (I forget what the term is, but it has to do with a spider) Nancy, do you remember what they called it? Something like arachnadactyly. Some Stickler patients have very long tubular bones with long joint endings. The x-rays of the long bones almost have a dumbbell shape. This is all called "Marfanoid Body"
Please feel free to ask me any more questions. I will do my best to answer them.
Okay, here is a list of the facial characteristics of SOME of the people with Sticklers and my thoughts next to them. I have listed the percentage of those involved in a genetic study done at Children's Hospital of Philadelphia. These are very similar to the stats Melissa posted about. Her stats were from the pediatrician who is studying Sticklers now.
Flat face - 90% (David's was much flatter when he was younger, his has taken more shape)
Depressed nasal bridge - 70% (his was more depressed when he was younger)
Small chin - 60% (his grew out)
It seems their eyes are larger and maybe more wide spread. Lots of people at the conference commented about them having a small kind of upturned nose. Not all of the people had the same facial looks, but there were several that looked very similar. Lots of glasses and lots of hearing aids. By looking at David's face now, I don't think I could tell he had Stickler Syndrome. I can tell by looking at his limbs and joints. His limbs are extremely long and he has very large bony knees.
This syndrome is so unusual, because it presents itself in so many different ways in different people. It seems between 80 and 90% have a hearing loss, David doesn't. Only 35-38% have hyperextendible joints and David has been like that since birth.
I think that was one of my biggest benefits from the conference. I know so much more now than I did before. I think that is why SS is often missed in patients, it presents itself differently in people affected with it.
If anyone would like more information, please email me. I have several pamphlets I would be happy to copy and mail to you.
Nancy B, mom to David (age 10 with PRS, SS)
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