Monday, November 1, 2010

Emri's Day

    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'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. 

Some Disheartening News...

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. 

October 4 Update

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! 

An Update on our Smiley Little Snuggler...

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 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
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... 

Some Difficult News

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... 

Emri's Announcement Letter

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