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.
Monday, November 1, 2010
We arrived in Bellevue just in time for Emri's Pulmonary appointment this morning. The doctor talked to us for a bit, checked out Emri, and spoke her thoughts. She expressed concern about Emri's "pectus excavatum," or sunken chest, and was a tad concerned about her noisy breathing as well. Emri's ribs bend quite a bit when she breathes in and could potentially restrict her lung expansion or interfere with heart function. This would be reason enough for a correctional surgery, which hasn't been done often, if at all, on a child this young. We aren't jumping to surgery quite yet as there are a few tests that need to be performed in order to know if it is indeed necessary. The doctor wanted Emri's blood to be tested for her oxygen/carbon dioxide levels and an x-ray for today. The blood levels came back normal, which was encouraging! The x-ray revealed that a small section of Emri's right lung was collapsed, but the doctor did not sound overly concerned about this. Emri has a swallow test scheduled for Wednesday, a sleep test scheduled for somewhere in March or April, and another pulmonary appointment for six weeks from now.
After the pulmonary appointment, we drove to Children's in Seattle to meet with our geneticist, Dr. Hannibal. We had the opportunity to ask the questions that have been plaguing our minds for days. There was not a whole lot of new information about her diagnosis, but it was overall more of an encouraging discussion. Dr. Hannibal stressed that because of Emri's unique deletion of exons within her FBN1 gene, we have no way of making specific predictions for her future. Yes, the historical course of neonatal marfans has not proved to be encouraging, but there have been success cases, and there is hope, scientifically speaking. We have previously recognized the hope within the power of our Lord, but we are now realizing that there is more hope than we thought within the realm of science as well. We remain realistic about Emri's prognosis, but because her condition has already proved greater than many others with the same diagnosis, we can also be cautiously optimistic.
We enjoyed Emri's smiles, giggles, and energy today as we met with nurses and doctors. She was flirting big time with her geneticist and very much enjoyed being the center of attention for most of the day. She is now over ten pounds and looking more and more like a little girl. I can't say enough how much of a blessing she has already been in our lives. We continue to soak in every moment we have with her. Its funny...you'd think this would prove to be the most intense, stressful time in our lives, and although a certain amount of stress is inevitable, it is also the most joyful time in our lives. We continue to THANK GOD for the peace we have been granted, and the hope He has given us through the sacrifice of His one and only son.
You know, there is nothing more precious than watching my little Emri learn about the different parts of her body. She is absolutely flabbergasted by her feet at the moment and I find it quite amusing. Emri continues to be the happiest baby in the world. Her smiles and giggles (which are new!) light up my and Brett's life every day. She is our little clown and we love her with a new love, stronger than any we have felt for anything on this earth. Thank God for our little girl.
I thought it might be necessary and helpful to update our friends and family on what the doctors are telling us about Emri's condition. It is not encouraging, it is not what we want to hear, but it is what science tells us. We continue to be thankful for the knowledge that our GOD is so much greater than science, but we know that what the doctors tell us may very well be the reality for our little girl within the perfect will of our Lord.
Neonatal marfan's is a severe form of Marfan's. When the internal signs of Marfan's are found in an infant, it is most commonly a sign that the infant holds a more serious and lethal form of Marfan's. We were told that Emri has neonatal Marfan's and that 50% of infants with this live past the age of 1, and 95% don't make it past 2. This has been proven over and over again in past cases of neonatal Marfan's. With babies exhibiting internal signs of Marfan's, their condition tends to get worse quickly and the doctors have no way of slowing things down.
Why? Everyone always wants to know why. We don't have to ask though. God's will is perfect, and even good. Good?!!? You know, it's hard for Brett and I to see, but we just have to know it is. We have found a peace that passes understanding, and felt a love that endures all pain.
'"My grace is sufficient for you, for my power is made perfect in weakness." Therefore I will boast all the more gladly of my weaknesses, so that the power of Christ may rest upon me. For the sake of Christ, then, I am content with weaknesses, insults, hardships, persecutions, and calamities. For when I am weak, then I am strong.' (2 Cor. 12: 8b-10)
We continue to pray and pray for our Emri. She is precious, and a gift. We are not taking this news as a death sentence, and we are not approaching it with ignorance. We know the scientific reality, and we know the power of God. Thank you for all the words of encouragement, the generous gifts, and the powerful prayers. Let's continue to pray in faith, with the knowledge that God has a beautiful plan for our little one, and the willingness to accept His good and perfect will.
We received Emri's official diagnosis today. Emri has neonatal marfan's syndrome. This is what we were hoping it wouldn't be: what we were praying against, what we didn't want to hear. The "internet prognosis" is frightening and discouraging. What do you do when you reach a place like this? How do you just sit there and "deal" with news like that? Well, lets thank our Heavenly Father that we don't have to go it alone. ALL and EVERYTHING we can do is trust our all-knowing God and pray with a faith that can MOVE MOUNTAINS...or heal a heart. Pray with us.
SO. Emri had an eye appointment last Thursday. It went well, and she doesn't need baby glasses...yet. She may need them in the near future, but not as of now. She is still very near sighted but her eyes have improved within the past two months. The eye doctor said that he wants to wait another three months before we check them again.
Today we traveled down to Seattle for another echo-cardiogram. The ballooned part of her aorta is still ballooned, but not swelling near at the rate it was! This is encouraging news (I asked the doctor if we could use the word encouraging, and he said yes:)! Her aorta had only grown 1 mm since last appointment which is ok, because she has grown bigger as well. She cried and cried during the echo, because she was SO tired and wanted to be snuggled. She got a cat nap in before we met with the cardiologist and then she was all smiles- back to charming the doctors and nurses:) She is such a sweet, sweet baby.
We are so so thankful for a little reassuring news-it has been difficult having to wait this long not knowing what was going on inside Emri's little body. We have another echo-cardiogram scheduled for the 8th of December.
We were supposed to get the results of her genetic testing for Marfan's today too, but it won't arrive until this weekend. We are praying the results come back negative, as Neonatal Marfans can be quite serious and more intimidating than Beals.
Besides Emri needing to put on a little more weight, she is doing great! She is SUCH a happy little girl and brings so much joy to our lives every day. It has to be one of the best feelings in the world to look down and see my little girl smiling boldly at me:) We thank God for her often... Thank you for your thoughts, meals, hugs, emails, and most of all prayers. We will update again soon!
Sorry it has taken so long to update you all, it has been a stressful few weeks. To start off, I wanted to say that we have been blessed with the happiest, most content little girl... She is such a little trooper through this all, I can't even believe it. She brings happy tears to my eyes often and I can't get enough of her. She is developing quite the little personality and sense of humor-I love it!
Yesterday we had an appointment with an ENT at Children's to check out her nose and throat. The Geneticist we saw a few weeks ago wanted to have this done as a precautionary measure to make sure there was no "floppy tissue" in her throat that can often accompany a connective tissue dissorder. The ENT said that he saw a little of the tissue, but not enough to cause concern. He did mention that Emri would most likely eventually have to see a pulmonologist(?spelling?) to check out her lungs and see if they are developing normally despite her "pectus excavatum"... AKA sunkin in chest. SO, that may be another appointment at a later time, but for now, we are content knowing that there is no obstruction in her nose or throat. The appointment itself was difficult to watch-Emri had to have a tube inserted up her nose and down her throat and she was not okay with it. A nurse was bracing her head and Brett was holding down her arms and legs...it was quite heart-wrenching.
After this appointment, we had Emri's blood drawn, which was another horrible thing to watch. They poked both arms, couldn't get enough blood, so eventually took it out of a vein on her scalp. I think I may have been crying harder than Emri... I hope with all my heart that we never have to have a day like that again. Emri had to get her blood drawn because we had to get another blood sample sent in and tested for Marfans. The reason for this is a little complicated, but I will try to break it down for those of you who are interested.
When Emri got tested for Beals, the lab sent us a report saying that they weren't quite sure what Emri had. Individuals dealing with Beals typically have a mutated FBN2 gene. Gene's are broken down into exons that are numbered from one to however many exons that gene holds. Beals patients usually have a mutated exon in the 23-34 range. Emri's 50th exon was mutated. Nobody knows quite what this means, and Emri may very well have a genetic disorder all to herself. We have dubbed it as "Emri syndrome." However, to be safe, the geneticist at children's strongly recommended us getting Emri's FBN1 gene looked at, which is what is affected when a person has marfan's syndrome. To learn more about marfan's, visit http://www.marfan.org/.
As for Emri's heart, we are praying hard that the Beta Blockers she is taking will help to shrink, or maintain her ballooning aorta. We have our next echo cardiogram on Oct. 4. Pray hard that that appointment goes better than the last one. We know that God is watching over us and our little girl. She is such a special little blessing. Thank you all for your concern and prayers...
We found out on Wednesday last week that Emri is dealing with a very serious heart condition. The echo-cardiogram she received at Children's Hospital showed that a section of her aorta artery is severely enlarged. This was shocking news, as the first echo-cardiogram she received in Colorado came back normal. This is a horrifying and difficult situation, and it's even hard to type about it. The only thing we have to comfort us is trusting God, knowing that this is all in HIS hands, and knowing that Emri's doctors will give her the best care possible. Through this all, we have a happy, smiley little girl, bringing joy through the tears. We will update more when we have had a little time to digest this all. Thanks for the support of those who have been praying, visiting, bringing meals, etc...
Dear family and friends,
We are so very privileged to be able to present to you the birth of our daughter, Emri Simone. She is such a sweetheart and already brings so much added joy to our lives every single day!
For those of you who have not already heard, the birth of Emri was a bit of a rough experience. In short, Emri was born not breathing on her own and showing markers for a genetic disorder. The first few days in the NICU were some of the most difficult days Brett or I have experienced in our lifetimes. We felt so honored to have been blessed with such a beautiful little girl, yet did not know what kind of challenges the future would hold for her. The doctors at the University of Colorado Hospital were wonderful individuals to deal with, but were not able to inform us on what sort of genetic disorder we were looking at. We really had no idea what level of severity was possible. It was quite effortless to imagine the worst. We knew the events taking place had a purpose and we trusted that God would be there to help us deal with whatever was coming. We had to wait three days before conversing with a geneticist to know what we were dealing with. The geneticist concluded that Emri most likely is dealing with a genetic disorder called Beals syndrome, or scientifically known as Congenital Contractual Arachnoldactyly (CCA). We have yet to get a positive or negative result, but wanted to inform the people that are, and will continue to be involved in Emri’s life, about some of the characteristics that may stand out as unique in Emri. To be honest, we were relieved to hear that Emri might have Beals as opposed a few more severe potential disorders. Beals is derived from a very similar, but generally more serious syndrome called Marfans syndrome. Both Marfan’s and Beals syndrome are described as a genetic disorder affecting connective tissue. However, Marfan’s seems to typically affect the heart, where as Beals seems to primarily affect joints. We wanted to list some of the markers that clued the geneticist in to making his preliminary diagnosis. Individuals dealing with Beals syndrome can show the following symptoms…
· Inability to fully extend multiple joints such as fingers, elbows, knees, toes and hips (contractures)
· Delay in motor development often occurs (due to congenital contractures)
· Long, slender fingers and toes (arachnodactyly)
· Curvature of the spine (scoliosis)
· Backward and lateral curvature of the spine at birth or early childhood (kyphoscoliosis)
· Reduced bone mass (osteopenia)
· Long, narrow body type (dolichostenomelia)
· Chest abnormalities - concave chest (pectus excavatum) or pigeon chest (pectus carinatum)
· Underdevelopment of muscles - particularly calves (muscular hypoplasia)
· Occasionally aortic enlargement and/or mitral valve regurgitation
Emri was born with many of these symptoms. So far, her heart has proven to be normal which we are so thankful for! Brett and I have faithfully been doing physical therapy with her to loosen her tight joints and hopefully improve her mobility. Most of the time with Beals, a person will live a very normal, healthy, and active life, which is what we are hoping and praying that Emri will be able to achieve.
Emri is a very precious little girl and Brett and I can’t even believe how much we love her and how blessed we feel to have her be a part of our lives. She is already exemplifying a very sweet and affectionate personality and we couldn’t be more thrilled to be her parents. We thought we would share this information with our close family and friends, just to let them know that Emri does indeed have a few extra little challenges ahead of her. We ask for prayers and continued support in the years to come and couldn’t be more thankful for the prayers and support we have already received from so many of you!
We hope this letter and announcement finds you all well and feeling God’s presence in every step you take! Love and hugs to all!
Love, Brett, Erin, and Emri