Hi We have received various results and diagnoses for Jade throughout the past few months, but we needed to go over all of it with the doctors and process things before we shared everything. In fact there’s still upcoming things we are monitoring, testing for and more appointments lined up, but I just wanted to give you guys an update on what we learned about Jade at her appointments over the past few months. I want to be transparent with you guys and not hold back because I want you to know the reality of Turner Syndrome and what you could potentially expect for your child or for yourself.
We got some good news and some bad news, but we’re taking it all with a grain of salt until we understand everything more.
Thyroid
As of now, Jade’s hyperthyroidism (Graves Disease) has returned. She was being treated a few years back for it and had improved to the point where she was able to come off of the medication. Unfortunately she needs to be back on a daily med to get her thyroid back to health. She will need to be blood tested regularly to make sure the medication is working. We just did a blood test a few weeks ago and her levels are back in the normal range, so it seems the medication is doing it’s job.
Diabetes
She doesn’t have diabetes! This wasn’t really a concern, but it’s a test that is done regularly for Turner girls to make sure she doesn’t develop it. We’re definitely grateful for that.
Vitamin Deficiency
She is low on vitamin D. Living in the PNW that’s too be expected. We’re going to be regularly giving her vitamin D gummies to get that back up. More than anything I wish we could get more sunshine, but that’s not going to happen here.
Vision
As most of you know Jade has a lazy eye on occasion. It’s really only noticeable if she’s tired or if she has strained her eyes too much. Over the past several months she has been enrolled in vision therapy to work on strengthening her eyes. This has helped her tremendously! She has so much more control now and is even doing better in subjects such as math and spelling, because her vision is getting stronger.
Chronic Sinusitis
After a recent visit to the ENT, we discovered Jade has chronic sinusitis. Her nose is always congested and regularly has drainage. I’m not sure if this is related to Turner Syndrome, but I do know that doctors keep pushing me to put her on Flonase. I am not okay with this, because one of the potential side effects of using Flonase is stunted growth. She already has stunted growth due to Turner Syndrome so this seems like an oxymoron to me. Every doctor I have mentioned this too, brushes off my concerns and continues to suggest that she use it every day for life unless it clears up. They are not giving us an answer as to why this is happening or if we can cure it, but rather just get on this drug and use it forever. This is something I will be further investigating, but I will not get her started on it as of now.
Celiac
She most likely has celiac disease. Her blood tests came back with elevated levels for it 3 times now. The only way to confirm is to get a biopsy of her intestine. I really am not okay with invasive tests like that so we will be going gluten free starting in February for a year. This is going to be hard. Jade loves bread, she loves cake and cookies. She loves virtually all bread products. I know there are a lot of good gluten free options out there but I know this will be a very hard transition for our family. Once the year is up we will find out if her levels have improved and if so she most certainly has Celiac. One thing I want to note here is that although I don’t believe in doing the biopsy, it doesn’t mean that I am judging anyone who has done it or has chosen to have their daughter do it. What works for one family doesn’t always work for another. In this case, the biopsy doesn’t work for our family, because we have had so many scary experiences with doctors and unnecessary procedures that now I am very selective of what kinds of procedures we do. If it’s not life threatening or there’s another alternative, then we don’t do it and go the alternative route.
Kidneys
She does have two separate kidneys not a single horseshoe. She does however have duplicating collecting systems on both sides which has cause a little bit of fluid build up. This isn’t concerning because the fluid build up hasn’t changed at all over time. So for now they just want to monitor.
Heart
She has some congenital heart defects. This is the most worrisome thing to me, but I actually feel a lot better about it after speaking to her cardiologist at the Turner Syndrome Learning Day we went to. The defects she has have been present since birth and they do not seem to be changing or affecting her heart function in any way. The good news is that she doesn’t have high blood pressure.
Growth
Her growth has greatly slowed over the past year, this could be either just because of Turners, Celiac or both. We have decided to move forward with growth hormone, but are dealing with issues with insurance. I’m not sure if it will make much of a difference for her since she is 11 now. She is 4’3 and her expected height is somewhere between 4’8 and 5 ft without growth hormone. We held off on this for a very long time, because I had concerns about side effects and I really wanted her to grow up being okay with who she is. I still want that for her, but I also want her to get a little boost if it will help her into adulthood.
I hope this gives you an inside look as to what we are going through and hopefully gives you an idea of what to expect for yourself or your child. Every Turner Syndrome girl is different. So symptoms, conditions and treatments can greatly vary. Despite everything Jade has and is going through, I’d say she has a very mild case and she is taking it very well. She has an amazing attitude about it all. No matter how difficult it can get, our family feels so incredibly blessed to have her.
Short and Sweet 