We had some appointments over the past few days with different doctors. Here is a summary of our visits.
Over the past few years, I have connected with other parents whose children have Catel-Manzke syndrome. Some of the questions were based on issues with their children. There is a soon to be 24yr old, 14yr old, 5yr old, John, and an almost 2yr old. Here are some of the issues they’ve experienced.
- Growth issues where the use of growth hormones was required.
- ACL, joint, and musculature issues.
- Rheumatoid arthritis
- Increased risk of our children having a child with Catel-Manzke syndrome.
1) Growth hormones are not going to be addressed at this time. According to John’s geneticist, Dr. Blazo, he would need to be “almost off” the chart for there to be a concern. We will continue to monitor his height and weight as we always have. For example, had he remained consistently below the growth chart right after he was born, we may have considered growth hormones. This includes even if he had his g-tube.
2) ACL and joint/muscle issues. With Catel-Manzke syndrome, ACLs can either not exist or be non-functioning. She wants us to follow up with the Orthopedic doctor about how he would like to address this. She does see how John is extremely loose in his joints. She believes the braces have been helping from not getting worse. As well as the physical therapy he gets currently.
3) At this time she is not concerned with rheumatoid arthritis. However, she did say it is something we can look into in the future if he is still having issues with his joints.
John is clumsy and falls sometimes. It is usually when it has been a long day of walking, therapy, or constant movements. There is a possibility that because of his breathing & heart issues that is why he gets tired so easily and aches which makes sense. Since you are oxygenating your body and if you have to work with breathing.
3) John has a 50% chance of having a child like him. My other bio son has a 1/4 chance. My stepson has a 1/6 chance unless his mother carries the gene then he has a 1/4 chance too.
4) She was excited that we had been able to connect with other families with the same syndrome. All she knows is ages and what state/country others reside in. She did make a note of whom I had come into contact in his chart just so we do have an idea of who this may or may not be affecting.
5) While there she did find a report about a case of Catel Manzke being found in a prenatal work up. If you care to read here is the report.
6) When we had our first-hand surgery in June of 2015, we provided the bone and tissue that was removed for the skeletal dysplasia registry in case there could be more to the syndrome and it may help in future testing or cases. Since neither the doctor nor I had heard anything. She is going to check in with them and see if there is any info. Or if nothing has been done yet they still have everything push to have them look into it.
7) A little thing I guess I either didn’t fully understand or knew about Catel-Manzke is that it is also a connective tissue disorder.
1) We may be switching to AFOs since now he is also concerned about the ACL, still knocked knee a good amount, loose ligaments and joints, and walking on his toes even while wearing in his braces.
He wants us to report back after seeing orthopedic on Jan 17th.
John’s tube in the right ear is out. His eardrum in the words of the dr is perfect. Left tube is still in and functioning it appears. If we start with more infections we will replace the tubes.
John’s physical, occupational, and speech therapists have mentioned about how he has always seemed to seek sensory. It has actually been mentioned for a while, but we have never really looked into it. Since school started I noticed a few things a little more. For example, when John gets upset because sometimes we can not fully understand him he will need to swing, rock, jump on his trampoline, or use his weighted blanket to help calm him. Also, he tends to always be on the move by rocking or swaying side to side while standing there. There are others but this is to just give you a little sample of what I am talking about. With his therapists’ notes and a questionnaire I had to fill out, it turns out John is hypersensitive with sensory.
Now there are 2 possibilities as to why he may have Sensory Processing Disorder (SPD). One would be that due to the medical issues as well as seeing so many doctors and therapists, hospital stays, procedures, and tests. The second one would be that since he does have a connective tissue disorder, Catel-Manzke syndrome, he is prone to having it.
So at this time, we will be working with different ways of helping him get through what needs to be done. Also, allowing him daily to have that sensory he seeks so much. Set it up on the schedule with even the school for him to have that 5-10 mins of swing, jump, or whatever it may be that day. Otherwise, have the school set up an additional therapy of occupational for him. We, his therapists and I, are still in the processes of figuring out exactly what we want and need to do.