First Bits of News

We have completed our first two days at the Mayo Clinic. I am wiped out tonight as it has been a lot of information to take in but I wanted to get at least some info to you.

First I have to say that the coordination and compassion we have experienced from those who check us in before each appointment, everyone in between that and the doctor, and the doctors has been absolutely amazing. My Mayo app on my phone literally lists everything that is happening from appointments and the doctors' notes from the visit and any tests or labs in real time. It has been seamless so far. Each person I encounter has a copy of my itinerary and access to all doctor notes up to that point. Even the sweet lady in the lab knew I had EDS and had knowledge of the disease. We feel so blessed to be given this opportunity.

Yesterday began with an echocardiogram (ultrasound of the heart) and then we headed to meet the genetics doctor who wil functioning as the team lead and coordinating all additional appointments that are needed. She was incredibly kind and wise. After an extensive visit,

including mapping the genetic path of my EDS, she felt we needed to add some additional specialists to the team. We added neurology, a day at the autonomic testing center (autonomic system controls heart rate, blood pressure, temperature regulation, etc.), and orthopedic appointment to evaluate degree of damage being caused by my frequent dislocations of many joints and whether additional surgeries are needed to stabilize other joints. Incidentally, I failed to report in my last post that my "clunkectomy" surgery 3 weeks ago to fix complications in my shoulder from the first surgery has been a great success!!

We left the Mayo Clinic having completed the day's appointments, but shortly thereafter we received a call from the genetics clinic stating the doctor had received the results of my echocardiogram done earlier in the day. For a moment there was a lump in my throat and I felt tears well up in my eyes. It caught me off-guard because I have had previous echocardiograms, the last in 2013, and my heart structure has always been great. I was trying to process what caused the tears and I realized as I have been planning for this trip, it has been about addressing current and on-going issues. I hadn't entertained the idea that we might uncover a new significant problem. God was quick to bring comfort and I know it was because of your prayers for us. We returned to the Mayo Clinic and made our way back to the geneticist's office. She explained that I had a significant dilatation of my aorta right next to my heart. It was to the degree that she referenced it as early onset aortic disease. She said there is no natural reason someone of my age would have this degree of dilation. The obvious first conclusion is that this is a result of my EDS. However, this finding could change the type of EDS I have to the most severe form. Apparently there are about 20 known genetic causes of early onset aortic disease, including Vascular EDS. I was sent immediately to the lab and all the blood work is complete to test for these varying genetic causes. For now, it means I have to have close cardiac monitoring and have an echocardiogram every three months. The echocardiogram also showed I have mitral valve prolapse (a valve dysfunction in the heart). The echo results mean we are now scheduled to be seen by the cardiology specialist and that appointment is a few weeks out currently.

During this return visit we also discussed the possibility of medications being prescribed. We discussed with the doctor my long on-going problems with drug metabolism. There is a significant number of drugs which literally have no effect on me despite incredibly high doses. We are thrilled to report that I now have an appointment with a pharmocogenetic Pharmacist from the Mayo Clinic's research division. Monday I will undergo genetic testing related to drug metabolism pathways. The Pharmacist will then go over the results with us and provide a comprehensive list of medicines that wont work for me along with alternatives that should work. We have needed this guidance for a very long time! What an amazing blessing to have this addressed. Today was very productive and thankfully, no surprises. We spent considerable time with a Doctor in Physical Therapy who specializes in connective tissue diseases. He covered everything from head to toe and gave instruction on every joint and limb as far as what type of daily physical therapy to do that would strengthen supporting muscles to help stabilize my joints and help prevent dislocations. Ideally this therapy should become part of my daily regimen from here out. He also discussed overall fitness and best practice recommendations to limit damage to my joints. We have a notebook worth of materials from him. He also gave us his card and said to have my local physical therapist stay in touch with him. Great appointment!

Last today was urology/nephrology (kidney) specialist. Today's appointment was to address the fact that I have had over 20 kidney stones in the last decade with two of those requiring surgery. I have also developed constant left kidney pain and the cause is currently unknown. The doctor was thorough and the result was scheduling four additional procedures/tests and a CT scan. I will also be scheduled for an appointment at the Mayo Clinic's Kidney Stone Clinic. (Who knew???)

Whew! I'm just tired typing all of that so I am sure you are tired reading it! Sorry it was so long but we wanted you to know of the great care we are receiving and what we are discovering in this process. Next week so far is just a couple of tests and waiting for results from tests already completed. Please continue to pray for us and this remarkable journey we are on! As always, thanks for taking the time to check in on us! We'll update when there is more news to share!

Blessings to you,

Lee and Steve

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Comments

Teresa Heikes:

You both are in our thoughts and prayers.

Jill Shelton:

Thanks for the updates! So sorry you are having to go through all this, but Praise the Lord, it sounds like you are getting great care and learning more and more. Glad your learning new strategies for exercises and better methods. You are loved!

Teresa J Brooks:

Wow! What a thorough evaluation. So glad you have this opportunity to have a whole body workup and be evaluated by doctors who all work together on all aspects of your health. Will continue to pray for you to receive answers and the best care possible. Love you! Teresa

Judy Wilson:

Wow you have been busy. Sorry for you that this opportunity took so long to experience. Happy that it has finally come about. You are contributing a great deal to their research. Prayers continue for you both and all tjose involved with your care. Judy

sandra henry:

What a day! You must be physically and emotionally wiped out. Thanks for taking time to update us. I knew Mayo was a good place, but i had no idea HOW good. What a blessing to be there. I'm sorry about the heart issues but it's good that you found out. I pray that you get the answers that you need to set you on a path for healing. I'm incredibly thankful that you are there and for all the wonderful people you are encountering. Love to you and Steve.

James Broman:

I appreciate your patience, detail and even a sense of humor throughout, all wrapped in the peace that only Jesus can bring. What confronts you on a daily basis is almost overwhelming to me... I can only continue to pray for God's peace and guiding hand throughout this process. Thank you so much for sharing so that I can pray with specifics.

Elizabeth Holmes:

We continue to pray for you and your family.

Lisa Currall:

Wonderful news that you are liking the docs! That's half the battle. They sound lovely and knowledgeable. I pray all avenues get addressed. Would love to discuss it all with you one day when you get home. It's all TOO familiar.

Stephanie Patchin:

Love you so much! Praying for you and Steve and for all the doctors and specialists involved.