Sunday, January 16, 2011

A long, long time

Where do I even begin? Baltimore...a beautiful, unique city full of insane Ravens fans. Dr. amazing, intelligent gift from God. Emri...a trooper and now experienced flyer. God....a God who answers prayers.
Tuesday was truly a day of mixed emotions. My dear Grandma Geertsma's funeral was Tuesday. It was a beautiful day spent reminiscing my Grandmas inspiring life surrounded by family. Tuesday night we drove to Seattle to spend the night before heading out east to the "land of promise". :)
Wednesday morning we boarded Emri's very first plane. She received her first pair of wings from our stewardess and wore them with pride throughout the rest of her travels. Emri was AWESOME on both flights to Baltimore. She was either contentedly playing or sleeping soundly on the seat between Brett and I. All four flights to Baltimore and back we got a row of 3 seats to ourselves which was absolutely wonderful. We arrived in Baltimore and made it to our hotel without trouble. Needless to say we were exhausted and ready for a good nights sleep. Thursday at 1:00 we had an appointment at Hopkins with an orthopedic specialist. The appointment went well and we weren't too surprised by anything the doctor said besides when he mentioned that Emri needs a back brace very soon. We were under the impression that Emri would not need a back brace until later in life. However, the x-ray taken at the orthopedic clinic Thursday morning revealed that Emri has already developed scoliosis. The doctor stated that a back brace would only help delay a surgery for scoliosis. Most kids with severe Marfans end up getting a rod inserted in their back to correct scoliosis. This will most likely be the case for Emri, but we are hoping that a back brace can slow the progression of scoliosis and delay the need for surgery.
After the appointment we decided to explore the city of Baltimore. It really is an amazing and beautiful city. The inner harbor is quite "picturesque" and the walk around it was worth the cold!
Friday morning we woke up filled to the brim with anticipation to meet THE Dr. Dietz. Personally, I felt as if I was meeting a celebrity. We had an echo cardiogram scheduled for 1:00 and the meeting with Dietz at 3. The echo went well and was actually quite hilarious. Emri, looking very scholarly in her new glasses, was watching the screen quite intently while the echo was taking place. It was easy to imagine that she understood exactly what was going on and that she was making sure the man performing the echo was doing an adequate job. We found our way to the building of our next appointment and waited for the meeting. FINALLY we got called to the back to get Emri's weight and height. We discovered Emri was in the 94th percentile for height and under 1 percent in weight. Quite fitting for a baby with Marfans. We then met with Dr. Dietz' genetic counselor, Gretchen. She was a wonderful, enthusiastic woman and began the process of filling our heads with information and research, and our hearts with newfound hope. Then came the surreal moment of meeting the Doctor responsible for the research that is saving Emri's life. What a moment. Brett, Emri and I shook his hand and sat waiting to absorb the information and truth he had for us. It really was quite something to be looking at the man who has given his life to researching the disease that consumes our little Emri. I found myself unable to stop smiling, feeling a bit like a fool, but unable to control it. Dr. Dietz started out by discussing the reasons we should never quote Emri's diagnosis as "Neonatal" Marfans. It used to be that when children were born with Marfan-like features, doctors would wait to see if the child made it past two to give them an official diagnosis. When they did not survive past two, they dubbed the diagnosis as Neontal Marfans. When they did make it past two, the child simply had Marfans. So, according to Dr. Dietz, there is no such thing as "Neonatal" Marfans...just Marfans. Everyone born with Marfans just has a different level of severity and needs to be treated based on that level of seriousness. After that he told us that Emri's level of severity was in the gray zone...somewhere in the middle-which was a glorious shock after hearing from the Doctors in Seattle that she was definitely on the severe end of the spectrum. Dr. Dietz then continued to tell us that with the treatment and surgeries out there we can expect to have Emri with us for a long, long time....a LONG, LONG time!!! Words honestly can not even begin to describe the emotions surrounding this statement. All I could think was, "I get to keep her...thank you GOD!" The rest of the conversation with Dr. Dietz was facts about Marfans, surgeries, medication and answers to the many questions we had brought with us. I will list most of what was discussed...

-Her pectus excavatum (sunken chest) is caused by rib overgrowth and will most likely be corrected surgically later in life.
-Emri has scoliosis and needs a back brace. Surgery most likely looms in her future.
-Emri has mitral valve prolapse, but it will need to get a lot worse in order to correct it surgically.
-Emri needs to be followed closely by her pediatric ophthalmologist.
-Emri will need good arch supports in her shoes and may also need ankle braces when beginning to stand/walk.
-Brett and I need an echo cardiogram just in case one of us is slightly affected by Marfans-but it is highly unlikely that either of us are.
-We will need to return to Baltimore to see Dr. Dietz every 9 months to a year.

The last thing we talked about was medication. Emri WILL be starting on Losartan which we are very excited about. It IS a process to get her on it, but we are more than thrilled to be getting her on something that could possibly stop the growth of her aorta.
This trip surpassed all of our expectations and was worth every penny. Thrilled can't even describe how we feel to have Dr. Dietz following Emri. God has blessed us greatly and continues to hold us in the palm of His hand. Our sweet little Emri is growing so fast and we are loving every minute of being her parents. I can't believe God chose us to be her parents. We are so blessed and pray that we can give God glory in everything we do and every decision we make. Thank you for the prayers... you. God is so real and so very good.


  1. AMAZING... thanks for sharing. God is good and I am so excited for this new found hope.

  2. Thanks for sharing this story--we're so glad to know that this was an encouraging trip. Know that there is a group of people in Austria praying for you all!

  3. Yay! I'm so happy your trip was such an all around success! Looking forward to meeting up with you all again soon!

  4. Erin I can't help but cry everytime I read an update. I feel so blessed by your story and by the hope that God has given your family! Your life, and that of little Emri's is such a testimony to the grace and love of our Father :) You're always in my prayers!

  5. Agreeing about the crying part. I just can't believe how happy and content Emri always seems to be in every picture. I think I would want to hold and cuddle her every hour of every day- i just love that little girl and I have only seen her once! Love you two....

  6. Hello
    I came across your blog while researching Marfan Syndrome...I recenty gave birth to twin girls and both have Marfan Syndrome...I truely enjoyed reading ur blog and share alot of similarties, And they are only 3 weeks old....Our road with Marfan Syndrome has just begun...I will continue to read your blog...Take care and god bless you all!

  7. I am new to your blog... I have just started my research on Marfan's. My husband passed away last week , he never knew he had Marfans. :( We have 3 boys together ages 3 , 2 and 8 months. Just by looking at my 2 year old I know he has it for sure. So I thank you for such blog to inspire and give us parents with children that have marfans hope for the future.