I decided to create this blog about my son, Dalton, to create some awareness of Axenfeld-Rieger Syndrome. It is very difficult to be a parent of an A-R child and unable to talk to someone who has gone through or is going through the same thing. I hope by telling our story that it helps another parent out there and gives them hope that I desperately need at times
First off, let me start by describing this syndrome. Axenfeld-Rieger is classified as a rare genetic hereditary syndrome. It can affect many things, such as issues with eyes, bones, teeth, hearing, heart, growth, learning difficulties, etc. There are 3 different types of Axenfeld-Rieger, each affecting different things. There is not much information available on A-R. In previous years, there was Axenfeld anomaly, Axenfeld syndrome, Rieger anomaly, and Rieger Syndrome. It was not until lately that there was a link found between these previous anomalies/syndromes.
Dalton’s Story:
It was within the first two weeks of bringing Dalton home from the hospital that we started noticing something didn’t seem right with his eyes. With him being so young, he wasn’t awake very often, but when he was his eyes always seemed to be moving from side to side. It was almost like he was unable to focus on anything. At the time, we thought that maybe he was just being observant, but then we started noticing the shape of his pupil. It was not round or centered. They were both a little off centered and looked kind of like a sideways tear drop. We mentioned this to his pediatrician, who had never seen anything like this before and referred us to a geneticist at UVA.
At the appointment, the doctors informed us about Axenfeld-Rieger Syndrome. The concept of it being hereditary did not make any sense to us because there have been no signs of this in any of our family members. They sat down with us and described that it could also be a genetic mutation if it was not hereditary. At this time, I felt like the worst mom ever. All I could think about was what I had done wrong with my pregnancy. Was it my fault? What did I do? Did I eat something I wasn’t supposed to? It was a very difficult time for me to grasp everything they were saying because these thoughts kept running through my mind. The doctors requested to have genetic testing done. After all of the insurance issues, we were finally able to have the tests done. I had to get his blood taken and sent to UVA for 3 tests. Those 6 weeks of waiting seemed to be the slowest weeks of my life. When I finally saw a call come across my phone from a VA number, my heart dropped. I didn’t know to be anxious, sad, happy, etc. The doctor then informed me that all 3 tests came back negative for the genes for A-R. At the time, I felt relieved, but then he kept talking. He told me that even though the tests came back negative, it does not mean that Dalton does not have this syndrome because he still shows signs of A-R. Since there is not an abundance of information or research on A-R, there may be more genes causing it that are unknown at the present time. Due to the clinical signs he showed, they still diagnosed him with Axenfeld-Rieger Syndrome.
We were then referred to see a Pediatric Ophthalmologist at WVU. The doctor kept doing tests on him throughout the appointment, which took over 2 hours. It was so hard because she kept using medical terminology and told us that she would sit down with us and explain everything after she had done all of her tests. I’m sure you all know that those big medical terms do not make you feel any better at the time. A lot of it was like a foreign language to us. The student doctor came in and had us create a pedigree to try to discover any eye issues, but all that we came up with was albinism which runs in my mother’s family. The doctor came in and described in detail the eye conditions with A-R. She also told us that he does have albinism. Like I’ve said before, there isn’t much research, so she was just as curious as we were if the two are linked. She informed us that Dalton did not need glasses at this time. She was so helpful answering any questions we had and going over any detail she could think of. She recommended that we regularly check the pressure in his eyes to try to avoid glaucoma and to come back in 3 months. After the next visit, she recommended that he come in every 6 months. This made me feel much better. Two times a year seemed much less serious than four times a year. Since then, we have had regular check-ups and he has cooperated at all of them and does not show vision low enough to have to have glasses at this time. This could change after the doctors are more capable of actually testing his vision instead of using teller cards and dolls.
At the first pediatric ophthalmologist appointment, the doctor referred us to the WV In-site/VIISA program. This is a home-based program for the blind or visually impaired between the ages of birth and five years. We were lucky enough to get Tammy, who is a great Parent Advisor. I could not ask for a better person to help with Dalton. She comes in our home once a week and plays with him. She informs me of different toys, books and activities to help him develop at his fullest potential. I have met the supervisors also. They are all extremely talented and compassionate people. I would recommend this program to anyone in WV. It has helped us out more than I can express.
During a following check-up, a slight heart murmur was noticed. We were referred to have an echocardiogram taken. The results showed that there was a valve that had not completely closed. The nurse practitioner assured us that this was normal in children his age and that it should take care of itself with no issues.
I was so ecstatic when Dalton started getting his teeth. I know, most moms aren’t this happy about teeth because of all of the crying, fussing, etc., but I could not wait to see how his teeth were going to be. His first 4 teeth came in straight, with no spaces. With A-R, there is a chance of teeth deformations, in simple words, some children do not have as many teeth as they are supposed to have and the ones they do have are all spaced out. I was thankful to see that his teeth seemed to be straight. This was one thing I could mark off of my list of Dalton’s characteristics. He now has 8 teeth with 4 more on the way, and they all seem to be straight. He has seen a Pediatric Dentist and she said that they were all in good condition, but once he was old enough, they could take x-rays on him to see how his teeth are growing. After he started getting more teeth, I noticed that he has an under bite. I called the dentist about this, but there is nothing they can do about it until later on. In the past, they would have to do surgery to readjust his jaw, but now if they catch it early, the jaw can be readjusted without surgery in most cases.
We were keeping up with all of his appointments and everything seemed to be going fine, that is, until we had his 12 month check-up. The doctor informed me that he was a little short, but maybe he had not hit his growth spurt yet. We were to watch this to make sure it didn’t stay at this level or decrease.
When we had his 15 month appointment, we found out that his weight is within the 50th percentile, but his height was in the 10th percentile. His height had decreased on the chart since his 12 month visit. The pediatrician talked to me about how A-R can affect the pituitary gland, which can in turn affect his growth. She spoke with me about growth hormones and how much they can really help him. She referred us to see a Pediatric Endocrinologist at WVU for further advisement. She was still hearing his slight heart murmur, so she referred another echo. After talking more about A-R, she recommended a referral to see a geneticist at WVU. I thought this was just going to be a normal 15 month visit, but instead I left in tears with 3 new appointments.
It is extremely difficult to hear that your child needs to be taken to many different specialists. Definitely more difficult than I ever imagined. It has been a month since this visit, and I still cry every day about it. It’s hard to even talk or type about. There are so many questions and concerns that I have. I want the best care for my son, and if that means taking him to multiple specialists, I will, no problem. We are VERY lucky to have a great team of doctors for Dalton. At the present time, we have his pediatrician, Pediatric Ophthalmologist, and Pediatric Dentist. I cannot wait to add a Geneticist, Pediatric Endocrinologist, and possibly a Pediatric Cardiologist to our team. Together, with faith in God, we can all get through this and give him anything he needs.
