A New Diagnnosis & Family update

 We did find out what our buddy has. Some of you may have read about it on his Facebook and IG page. If not Broc was diagnosed with Primary Sjogrens System. This is another disease that affects his whole body. Organs, cells and tissues. Unfortunately he has another disease that does that too called Mitochondrial Disease. And yet another one called Ehlers Danlos Syndrome. Many people that have Sjogrens only have Sjogrens and not 2 other diseases that affect your body.

This disease still doesn’t explain a complete diagnosis for Broc. The Undiagnosed Disease Network is still looking. There are treatment options for Broc to help calm down his inflammation in his body. We are really hooping this will help with a lot of his pain. His new team are hopeful it will help to calm down his immune system from attacking his body.

This week the boys and I spent a week in Cincinnati seeing a couple of specialists. Broc’s Rheumatologist was hoping for Broc to see the Bone Marrow Transplant Team as they will be an integral part of his treatment but the Dr that we wanted to see is not accepting new patients so we will patiently wait for a phone call to see another BMT Dr in a couple weeks. Once he has been evaluated by them only then can he start treatment. 

We also saw the Colo-rectal team to see if Broc will be a candidate for a procedure that may alleviate some of his belly pain. Unfortunately we found out that Broc is not a good candidate and that relief cannot be guaranteed. His belly pain is all due to his immune system. Every time it flares his whole gut shuts down and air gets trapped which causes immense pain for him. Unfortunately his disease leaves him very thirsty and a very sore but drinking anything even water causes severe pain and distention. 

Dermatology took a sample of Brocs toe nails to see if there is a bacteria that we can treat. If not then we will continue with all the creams, filing down his nails and vinegar soaks. Unfortunately there is not much that can be done for Brocs toes. We will continue to use the topical creams when he gets cellulitis infections around his toe nails too. He was given the option to have his big toe nails removed but speaking from experience that is very painful and not something we want to add to Brocs plate right now.

GI and Advanced Nutrition Team who manage his TPN are making small changes to his TPN recipe. They are concerned with the huge increase of steroids that Broc will start too, so keeping his calories on the lower end for now. They are a little concerned about his bone density as it is on the extreme lower end of the spectrum. Something that they will be keeping a close eye on. 

Mark saw Brocs Rheumatology Dr as well. He doesn’t have Ehlers Danlos like Broc and I but has Hypermobility Syndrome Disorder. His score wasn’t high enough for him to get an EDS diagnosis. He does have iron depletion so he needs to start taking iron supplements as soon as possible to help replenish his stores. Eating iron rich foods is not enough for him. He is also needing to be evaluated for Autonomic Dysfunction. We are hoping that because he is close enough to an adult he will be able to see my cardiac Dr for Neurocardiogenic Syncope or POTS. He will also be seeing OT and PT for his extremely tight muscles and flat feet which runs in the family. He will be seeing them when we go back in November.

In the meantime my health has been taking some strain. Keeping up with all Brocs needs and then some has been very taxing on my health. No getting enough sleep is also a huge culprit. Broc requires medication every 3 hours around the clock so that leaves me with only a couple hours of sleep at night. I have been diagnosed with Seronegative Rheumatoid Arthritis. I have started treatment but it’s not working as well as they had hoped so we are in the process of getting another medication approved. We all know insurance has their own timetable. 

Thank you for all your continued love and support.

 

Unexpected turn

 A couple weeks ago Broc and I headed to Cincinnati to visit his team and a new Dr too. We have seen a Dr like this once before but were dismissed so I was very hesitant to visit a Rheumatologist again. I’m so happy we did. He is an incredible Dr with so much knowledge and so compassionate. We spent about 2 hours in his office. He asked a million questions and more. We got talking about Brocs dry eyes. I said well he’s had them for about 5-6 years and we were just told its his medications that he’s on. Then he looked at his other symptoms like his pancytopenia (which is extremely low blood counts), his unexplained fevers, chronic pain and illnesses which are causing him so many issues. He has been dealing with most of these symptoms since he was 2 years old. He asked me if I have ever heard of Childhood Sjogren’s Syndrome ? No. I had only heard of Sjogrens and that would be the disease that affects adults. 

So he asked if we would be willing to start the process of all the testing. I said well what do we have to lose. He’s still undiagnosed and he’s not getting any better. If we can help him in any way to feel better we certainly want to do that. The testing involves an ultrasound of his saliva glands and neck, lots of bloodwork and lastly a biopsy of his inner lip to test the cells.

We will be heading back to Cincinnati next week for the ultrasound then next month again for the bloodwork. He has to be off his steroids to be able to have his bloodwork. Once we are done talking about Broc and the rest of my family he says to me Mom I think you should consider getting yourself tested too. So now I’m waiting for my appointment too. 

He also referred Broc to Rheumatology Physical Therapy. We had a great evaluation with them. They gave us a few exercises to do with Broc at home. He is doing very well with them. There hope is that this will help him get stronger and stronger.

We also found out that Broc is Vit D deficient so he will be getting additional Vit D too. Unfortunately our only option is to put it through his J tube. It not a great idea as it only causes more belly issues for him but we don’t have many options.

We then moved to Dermatology. Again his skin issues are being blamed on auto immune. His toenails too. He keeps getting cellulitis  around his toe nails and then another nail grows but the previous one doesn’t fall off. All they can do is treat the cellulitis.Next they looked at his legs and the hairs on his legs are growing like corkscrews so I guess that’s an issues and another vitamin deficiency. Vitamin C this time. He will be having bloodwork to check those levels.

It’s been a very busy few months. His immune system is really taking a hit. His dry eyes are causing infection in his eyes so we are medicating his eyes as much as we can with artificial tears 5-6 times a day and antibiotic drops. He is still having good and bad days. 

He has really enjoyed going to meetings every Sunday to see all the friends. Unfortunately he has been sick a few days later every time he goes so we know his immune system is having a hard time. If he does indeed have this new Syndrome then we are hoping that starting treatment will bring him much relief.

We also discovered that his legs are turning purple when he sits and stands so we have been in contact with his vascular team and they recommended ultrasounds on his veins and arteries to a make sure there are no occlusions or blockages. If the ultrasounds are normal then once again it will be blamed as an auto immune symptom. 

I will keep you all updated as we get the results. Thank you for all your continued love and support.

Illness with no name

 Broc has not been well since coming home the beginning of March. We took him to the ER 2 weeks ago with severe belly pain and vomiting and low grade fever. He was dx with gastritis on CT scan. We came home on IV abx for 48 hours incase his blood cultures grew something. Thankfully they didn’t. 

Fast forward to this past week he still has low grade fevers. On Tuesday his migraines increased as well as his belly pain. His temp also started increasing on Monday night into Tuesday. He spiked a very high fever Tuesday. Well past his cut off for his protocol. We were convinced he has a blood infection or at least a line infection with how sick he was. 

Unfortunately after all the testing came back negative, viral and bacterial and he was done with his 48hours of IV abx and fever free for 24hours, they decided it was best to send him home. We do have one more test pending that takes a week. If this test is abnormal that would be helpful. 

Thank you for all your continued love and support 

🐸🐸🐸🐸

Broc Update

After spending almost all month in the hospital and not being able to manage his pain very well, we made a decision. This was not made lightly but one we knew we would have to make eventually. As a family we have discussed this over the last couple of years as Broc’s health has slowly declined. We placed Broc with hospice/ concurrent care yesterday. We are really hoping this brings him better pain relief. He isn’t absorbing the pain meds through his J tube anymore. 

It doesn’t mean that he’s at the end of his life, it just gives him the ability to have iv pain meds and be as comfortable as possible while still getting his IV nutrition at home. If he gets sick or needs medical attention we will still take him to the hospital to get treatment.

We are hoping this will allow his body to not be fighting pain all the time so that he can start to gain some weight and strength. Because of all the pain he is in bed most days and has lost almost all his muscle mass which is causing other issues for him. 

We long for the day that he will be healthy and happy again. Until then we will keep him as comfortable as we can. He still has many things on his bucket list. 🐸🐸🐸🐸