STICKLER SYNDROME

For those of you that know me well and know about our situation, You have heard all about Stickler Syndrome. For those of you that have no idea what it is you are not alone. It only affects about 1 in 10,000. It is a connective tissue disorder affecting the eyes, ears, joints, and sometimes the heart depending on what type you have. When our first son Tarrin was born we had no idea what it was either. Tarrin was born with a soft cleft palate, which we had repaired when he was seven months old. When he was one and a half we noticed his right eye turning in and went to see a specialist. Dr Hoffman at Primary Children's informed us that he thought Tarrin had Stickler Syndrome. Tarrin had high myopia and some of the physical features of someone with Stickler Syndrome. We looked it up on the Internet and were a hundred percent sure that is what he had. We took him in and had genetic testing and it came back that he had it. At this point we were told that it must have been sporadic(25% sporadic, 75% hereditary) To date they have never had someone with Stickler Syndrome not show any signs. Which Kevin and I have no signs, so we thought it must be sporadic. Tarrin has had four eye surgeries and has tubes put in his ears for fluid twice. A couple of months ago I took Tarrin in to see the eye doctor(he goes every six months) and I had Maisey with me at the time. Dr. Hoffman always takes his light and checks the other kids eyes to make sure everything is fine. When he looked at Maisey eyes, He told me he wanted me to make an appointment for her to be seen. I didn't want to wait so I convinced him to look at her then. Well he dilated her eyes and took a look and she has high myopia just like her brother Tarrin. He then told me I should get her checked for Stickler Syndrome. I can't put into words how it felt to get this news and have to call Kevin and tell him. I think my heart was breaking and I was so mad that my son and now my daughter would have to deal with this. I wish I could take it away from them. We took her to the geneticist and found out that she more than likely has Stickler Syndrome. He told us since we already have one child with the syndrome, that we know how to take care of a second and it's our own personal decision if we get her tested. They were baffled by our family because they have never seen a family with two children with the syndrome and the parents not have it. One of the geneticists said something like its probably one in a billion. Yesterday Kevin and I took Maisey to the E.N.T to make sure her ears are okay and to have him check her palate. Both her ears had fluid in them and since she is more susceptible to ear infections and hearing loss we are getting tubes put in next month. He checked her palate and she has a submucous palate which means the muscle is going the wrong way. Only one in five need surgery for it and he said that Maisey's palate looks pretty good. I have felt so many different emotions these past eight years from dealing with this Syndrome and I finally think that I have grown up a little bit. Driving back from the Hospital I was overcome with gratitude to my Heavenly Father for trusting in me to have these beautiful babies and take care of them in the way that they need. I am so thankful that Tarrin and now Maisey have such mild cases of the syndrome. I am also thankful to have so many capable Doctors in S.L.C at Primary Children's Hospital. Dr. Munz said that he wouldn't even know she had it unless we told him and he sees a lot of people with Stickler Syndrome. I am thankful to all of our family for their support and for my mom who puts Tarrin and Maisey's name in the temple every week.