Thursday, December 23, 2010
I wanted to write a separate little journal entry on our meeting with a woman named Brie. I had connected with Brie on a site called Marfan's connect. She lives in Seattle and was a first generation Marfan's kid just like Emri and was willing to meet with us! We met today after the appointments and had an AWESOME time getting to discuss so many things with her! We feel so blessed to have connected with her. She has VERY valuable experience to learn from and we hope that she can someday be a mentor for Emri when she is going through some of the same experiences. It was touching to see Brie and Emri together. We got to see their long beautiful fingers next to each other and Brie even took off her shoe to compare feet with Emri:) Brie is a strong, brave and wonderful person and we are SO glad we had the opportunity to speak with her. It was a wonderful time and we hope to do it again soon!!!
11 doctors...11 hours...sleep needed. Forgive me if my writing sounds sleepy...but today was a day where rest for the weary was nowhere in sight. We awoke well before sunrise to prepare for our day of doctors. The day included appointments at 8, 9, 10, 11:15, 1, and 2:20. The 8 and 9:00 appointments were in the Occupational therapy clinic. We first met with our regular occupational therapist and discussed a few new methods of getting Emri fat, and took a look at her overall social/moter development. Emri's one smart cookie when it comes to social skills and is right up there with all those fat babies her age:) She DOES have delayed moter development which is to be expected in Marfan's babies due to their weak muscle tone. It may take Emri a year to be able to fully sit up on her own, or even 2 years to learn to walk on her own, but we are JUST fine with her taking her jolly old time. It wouldn't bother me a bit if Emri didn't walk till she was 7, as long as she is still here with me, in my arms. Every day Emri captures more and more of my heart. I didn't even know I had this much heart. I ache if I think for even a second about Emri leaving me. I know, as children of God, we all go HOME in his time...but I pray every day that God protects her little heart and lets me keep her for quite some time.
Our second appointment was with a splint specialist. She constructed some splints to help Emri's thumbs stay out of her palms. She has her "night splints" to wear at night, and her "day splints" to wear at least 4 hours every day. This will continue until her thumbs more naturally stay out of her palms and until she is able to grab things normally, without her thumb tucked in.
10:00.....What was the 10:00 appointment? OH! This one was actually pretty exciting. We got to meet a world renowned geneticist and her Australian sidekick. It was actually quite a humorous scenario as they decided to place bets on weather or not Emri's skull bones were fused or overlapping. The world-renowned geneticist, Dr. Hall, was amazing. She couldn't get enough of Emri and had many delightful conversations with her. She was very encouraging about Emri's prognosis and very much supported our decision in getting in with Dr. Dietz. She and him are buds...and she likes his work too. The Australian sidekick was also a geneticist, but he just pretty much nodded in approval to everything Dr. Hall said and mumbled a few things that I didn't hear due to my overwhelming desire to listen to only his accent.
11:15 was rehab. I didn't really know the relevance of this appointment, mostly because I was not aware of what "rehab" really meant in regards to Emri's situation. The doctors assured me that it was indeed relevant and that they would be taking care of things such as making sure Emri learns to crawl, walk, run, and skip properly. They were somewhat helpful and Emri enjoyed her time flirting and smirking at her handsome gentlemen doctors.
We got 20 minutes after this appointment to get lunch and discuss how insane having 6 appointments in one day actually is.
The 1:00 appointment was just getting the measurements of Emri's heart with an echocardiogram. Needless to say, Emri was a little wiped from her morning and slept peacefully right through the entire thing. I was laying next to her and may have taken a cat nap myself. After her echo, we skipped merrily over to get our flu shots while awaiting the cardiologist appointment.
We met with Emri's cardiologist, geneticist, and genetic counselor to discuss the results of the echo. In summary, Emri's heart is still dubbed as "stable" but has grown along with her. We were very thankful and happy to hear that the root hadn't largely increased. They did officially diagnose her with MVP (mitral valve prolpse) but at this point, it's not leaking enough to make any big moves. This may be something that, in the future, has to be replaced with a mechanical valve, but for now, nothing needs to be done. We did tell the doctors that we are planning on meeting with Dr. Dietz and they were somewhat supportive. They are on the skeptical end of using the drug losartan, and want to have the main trial finished before giving it out to their patients. Dr. Dietz seems to have a lot more confidence in losartan so it will be interesting to hear what he has to say about it all. Overall we feel like the doctors in Seattle are on the conservative end of the spectrum, while Dr. Dietz and his crew stand on the more liberal side. We just want a healthy baby...that's where we stand. We truly feel that God led us to finding Dr. Dietz and that he holds valuable knowledge and information. It is difficult to feel like you're "siding" with a certain doctor...but as a parent desiring the best for your child, you kind of have to.
Overall, we feel overwhelmed, happy, informed, confused, and supported after this so called "day of doctors." We have a lot of information, options, and decisions to sort through and we pray that God leads clearly in the direction he wants us to go. In the midst of the chaos, our little Emri now sleeps peacefully in her crib-- her little hands in plastic braces, drool running down her cheek, and a lullaby in her head. It's all SO worth it. What a blessing.
Thank you for the prayers...December 8 is now over and January 14 looms ahead. What a season in ours lives and what a JOY in our hearts.
Just wanted to write a quick update discussing the dates we will be in Baltimore. We were offered the dates Dec. 14 or Jan. 14 for an echo-cardiogram and meeting with Dr. Dietz. We decided on the January 14 date for a few different reasons. First off, Dr. Dietz is in clinic on December 14, so he will be meeting with a lot of other patients and we would practically have to be squeezed into the schedule. On January 14, Emri will be his only patient. We also have an echo-cardiogram coming up on December 8, so we will be able to know the status of her heart. If we are not comfortable waiting until January AFTER the echo, we will be seeing Dr. Dietz as soon as we can get to Baltimore. SO we are of course praying that the results come back stable as they did last time. We have a HUGE day in Seattle coming up on the 8th. We have a full schedule of appointments starting at 8am, and ending at 5pm, when the hospital closes... Emri will be seeing a number of specialists including a PT, OT, 2 MD's and her heart doctor. Needless to say, the day will be a busy one but will hopefully bring answers to a plethora of questions we have been accumulating.
I wanted to add a quick note answering a question Brett and I have both been asked many times. The question regards our future children and their chances for also having marfans. Emri is said to have achieved marfans all on her own, with no help from either Brett or my genes. The doctors have dubbed it a spontaneous mutation and they have told us that we have a less than 1% chance of conceiving a second child with the same condition. The reason the doctors say that Emri's mutation is spontaneous is because of the fact that if she got the gene from Brett or I, you would be able to see the physical signs of marfans in the parent that she inherited the gene from. Brett and I both lack any physical evidence of having marfans. It's crazy to think that Emri is 1 person out of 10,000 that have a severe form of marfans and that the mutation just happened...but we like to think it wasn't really spontaneous at all. It was all in the plan. God has a special place for our little Emri, and His plan for her life has only just begun.
In light of the day of thanks we celebrated last Thursday, Brett and I would like to say that we are overwhelmed by the thankfulness in our hearts for our little girl. God has abundantly blessed us with her, and we wouldn't want it any other way. We also need to give thanks for our wonderful doctors. Emri's primary care doctor and his wonderful nurse have been such a blessing. I am on the phone with nurse Kim A LOT and she is always willing to talk! Dr. Bochsler couldn't be more caring and understanding. He wants the best for our little girl and it's so easy to see that. God has set us up with some absolutely amazing and talented individuals.
We are so privileged to be the parents of such a beautiful little girl, and so humbled to witness how God is influencing our, and so many others' lives through His little 11 pound Emri. We will continue to update! We hope all is well on your end, and ask to keep the prayers rolling:)
Oh. My. WORD. What a day. What an absolutely incredible day. My morning started out like most others-exhausted, trying to keep my happy, giggly little Emri entertained. Emri got sleepy and decided it was time for her first nap of the day. When contemplating what to do with my time, I decided to do a little research on Marfans. I had done A LOT of research on Beals, but when we found out she actually had marfans, I was research exhausted. This morning I just set my mind to learning all there was to learn on Marfans so I could be educated on Emri's condition to the best of my ability. While typing in various searches in google, I came accross an article titled "Old Drug Offers New Hope for Marfan Syndrome : NPR ". READ IT. I was overcome with joy when I read through this article, but being a skeptical person, I decided to type in the name of the child and see if there were any more articles telling his story...there were. Here are some more... http://www.hopkinsmedicine.org/hmn/F07/feature1.cfm, http://www.boston.com/yourlife/health/articles/2007/10/29/old_drug_offers_new_hope_against_disease/.
I read through my tears and thanked my Lord for revealing this all to me. I searched the internet for Blakes mom and found her on facebook. I will share the messages we wrote back and forth.
My Message to Anita:
Anita! My name is Erin Van Andel. I live in Bellingham, Washington. I have read your story on the internet now about 6 times and every time I can't help but feel hope again for my 5 month old daughter, Emri. She was diagnosed about a month ago with neonatal marfans. We got the exact same horrifying prediction-that she won't live past 2! HELP! I would love to connect with you about all of this and would feel honored to get your advice on what our next step should be! I would LOVE to hear more about this "losartan" drug. Thank you so much for your time and I hope we can connect soon. ~Erin Van Andel~
Her response to me:
Hello! I cried when i read your message. It made me think of how scared and alone we felt. I would love to talk so feel free to call me. My number is ***-***-****. I have advice and truth for you. Emri WILL live past 2 and with the amazing medical advances she will have a very good life, with some bumps along the way but with parents that love her she will be strong. Blake is in 2nd grade and amazes me daily. he has an incredible spirit, and make my job easy. She is a doll. I would love to help you. I will connect you with Dr Dietz...he is the greatest!
I dialed Anita's number as fast as my fingers would allow and got a sweet, strong, amazing woman on the other end. She was so encouraging and so willing to help us through this whole process. She STRONGLY urged us to get into Dr. Dietz in Baltimore as soon as we could. Looks like we'll be traveling to Baltimore soon! We are in the process of getting an appointment set with Dr. Dietz and couldn't be more excited to meet with him. He clearly has a passion for Marfan's kids and has inspired us already through Blake's story. Anita re-ietterated to me over an over that she has a very happy, special little boy. I described Emri's demeanor to her and she said Blake was the same way when he was a baby and continues to bring joy to everyone he meets. We hope to meet this brave little guy some day.
In the midst of all this, I can't help but thank my Heavenly Father with all my heart for all he has done, has been doing and will continue to do for us. Talk about timing...we all know flying to Baltimore, seeing a world-renowned doctor, eating, and staying in a hotel isn't going to be cheap. Not to worry. We just received a more than substantial check from Brett's family and friends. We have been so blessed to receive financial support from a few different sources. Without these people, we would be financially unable to supply Emri with what she needs. God is SO good...so good.
We realize this doesn't change God's original plan for Emri's life-He is just continuing to reveal it.
THANK YOU to everyone who has continued to pray, who has given financial support or even emotional encouragement. We are on quite the journey.