This will probably be a long post, okay so there is no “probably” about it–I don’t even know where to start, so I will start at the beginning of our trip. There will be a lot of information, some just fun and some medical.
Stryder and I went to Baltimore on Tuesday (Feb 19)- The trip there was long, but we had quick layovers and no problems. Once we arrived, we got checked in to the Sheraton hotel near the Greater Baltimore Medical Center. The hotel was very nice and they made sure we got a high floor so Stryder would have a view.
We stayed in the first night, we were both exhausted and I can never understand why flying is so tiring when all you are doing all day is sitting.
The next day, Wednesday, we went to see Dr. Francomano. It also happened to be my birthday. I planned this appointment over a year ago and was supposed to go last month, but they had to reschedule because of a conference call and I didn’t care if I spent my birthday taking care of my sons needs. I expected that Dr. F would see Stryder only once- She does not see children younger than 12 and I have heard of others who see her and they get their list of things to do/follow and that’s that. I have also heard of others that have to see her continuously, for various reasons. I expected that since Stryder was so young, this would be our only visit. I wish I would learn that nothing is ever just once when it involves him though.
For those that do not know, Dr. F is one of two well-known specialists on Ehlers-Danlos Syndrome. The other doctor is Dr. Tinkle and he does see children. We wanted to see Dr. F because Stryder is a complicated case, with many issues and Dr. F seems to know what issues are EDS related and not. She is also well known for helping with treatment plans, how to relieve pain and what to expect in the future. Everything I have heard about Dr. F really made me need to take Stryder to see her.
Going in, I wasn’t sure what to expect, but we have done the drill before. I was nervous and excited at the same time. When we got there, her assistant and another Dr. were in the room and asked tons of questions about his history. I had already sent in tons of paper work before and they wanted to fill in the holes and clarify and also get new information we may have had. While she was asking the questions, Stryder was playing-and playing hard.
They left the room after about 20 minutes and wanted Stryder to get into a gown. Five minutes after they left, Stryder was asleep. Everyone sees Stryder as a happy, playful 5-year old, but one no one sees is the aftermath of the playing and mostly that means he sleeps. Every day after just a couple hours of school, he sleeps. After playing with cousins, he sleeps. Anything, and this was a perfect example. Dr. F came in and I told her this is common. His little body just can’t handle being a regular 5-year-old little boy, but his heart wants to make sure everyone knows.
After waking Stryder, Dr. F proceeded to do an entire evaluation on him- first, the joints and skin showed how flexible he is. I also learned what a true atrophic scar is. Stryder had a biopsy on his neck and the scar has changed to be very wide and stretchy like.
During her “investigation” she saw his Cafe Au Lait marks. Stryder has had a couple on his elbow for a while now, but they are changing and beginning to get freckles in them and then he had a couple on his chest, above his shirt that I noticed prior. Dr. F counted and measured them all, finding 9 that were larger than 5mm, while the largest was 8cm and there were MANY more smaller than 5mm. All of this was being dictated by her assistant, a genetic counselor. She also noted he had quite a few bruises on his legs.
After this examination, Dr. F had Stryder do a few other tests that included some standing on one leg and using the other to touch his knee and a few others. Once it was all completed she advised me that he most likely has a tethered cord, but we would need an MRI to confirm and she felt if we waited a year he would not need to be sedated to have one and it is safer that way. A few people have suggested tethered cord, but for some reason it hit me hard hearing that.
The other thing she said was that she felt he had two things going on, not just the EDS and all of it’s “arms”. The geneticist and Deornbecher doctors have all said that too, but in my heart I was hoping that Dr. F would be able to say everything belongs with EDS. So it comes down to testing for Mitochondrial disease and she is connecting with the pediatric geneticist about the cafe Au Lait marks on him and connecting that to Neurofibromatosis, both are devastating but with Stryder’s history of obscure lab tests, auto immune disorder and epilepsy, she felt we need to look into these. She also said that we cannot rule out vascular EDS even though the lab work stated he did not have it and it’s almost 100% accurate. She suggested that I get tested to make sure-Dr. Schirripa in Bend also said the same thing.
I feel a little overwhelmed and a little scared. Stryder seems so happy and “not sick” in so many ways and some days I wish we could just pretend that he is, but then reality hits.
So the final outcome was:
- possible tethered cord;
- test for mitochondrial disease;
- consult for Neurofibromatosis;
- treat for Mast Cell Activation Disorder;
- Ehlers-Danlos Syndrome;
- joint hypermobility;
- easy bruising;
- atrophic scarring;
- stretchy, soft skin;
- translucent skin;
- high narrow palate;
- soft ears;
- blue sclerae;
- hypermobile shoulders and hips;
- hypermobile patellae (knee cap);
- straightening of the cervical lordosis and thoracic kyphosis (info);
- pes planus;
- ankle pronation;
- hypermobile small joints in the fingers
Prescriptions for physical therapy, echocardiogram, zantac, zertec, cromolyn sodium
Follow up with phone consult in 3 months and return physical visit in 9 months
Get me, my dad and Kasiah into a genomic testing to find the gene for EDS
Later that night, Stryder and I went out to have my Birthday dinner. The people at the next table had a birthday too 🙂
We went down by the port and quite a few people were taking pics but when Stryder came, all the birds flew in too. It was so strange! I suppose they thought he had food, but they came right when we did and flocked all around him:
We finally made it to Port Discovery and Stryder had so much fun – we met a wonderful lady who worked there (Magan) who happened to be the Director of Guest services- the walk there was lengthy for Stryder; he wanted me to carry him several times, but he finally made it and when he did, he played hard. Walking causes him a lot of pain, partly because it’s easy to focus on the pain and partly because there are no endorphins to hide it like they do when playing.
They had a Wizard of Oz exhibit which happens to be my very favorite movie of all time, but Stryder has never seen it and didn’t get what all the things were – oh well
In true Stryder fashion, he ended the day falling asleep at dinner:
The trip back was good. We started out getting a ride in the same vehicle as someone staying at the hotel (Bill). We had a great talk and it made the trek to the airport go much faster.As it turned out, he and his wife and children live in Georgia, where Stryder was born 🙂
At the airport I met some lovely ladies (and one husband) too! We had to change gates and the walk was very long so we all hopped onto a cart and got a ride. It was a good thing because the Stryder had enough walking. I hope everyone I met on the last day stay in touch, they all touched me in their own ways!
To see the rest of the Baltimore pics, go here