Sunday, August 18, 2013

Oh man do I have a long list of things I need to include in this here it goes!
I wanted to start with an update on our little big man-Abe. he is SUCH a happy, giggly, overwhelmingly busy little boy! He is crawling like a madman and beginning to test himself by letting go of furniture to balance on his feet. He is in the 95% for height and 75% for weight. He's a big kid! He eats anything and everything except for peas....HATES peas. He LOVES baths, walks, toys, remote controls, cupboards, and especially his big sister-he has the best giggles when she is entertaining him. He brings so much joy to our little family and we love him more every day!

Emri is also making some physical gains! She is now walking 6 to 10 steps with NO assistance!! We are SO proud of our little sweetheart. It is kind of sweet that Abe and Emri are learning to walk together. I can't help but think it is a sign of their relationship to come:)

There is a very exciting event coming up for our family in November. My sister, Steph, and her boy Daniel, are getting married! We are so, so excited for them, and can't wait for the wedding. Emri and Abe are flower girl and ring bearer...and mommy is nervous about how it will go...lots of bribing should get us at least a mediocre performance:)
Our house is coming along-we are now at the roofing stage of the process. After roofing, the windows will be installed, siding will be going up, and plumbing will begin. We SHOULD be able to move in sometime in November. There are SO many decisions that must be made in the coming weeks, and it is a little overwhelming to say in the least. It is such a crazy, yet exciting experience for us as a family. Brett's parents have been graciously putting up with us living in their house now for over 7 months. As much as we love spending time with Grandpa and Grandma, having live-in help with the kids, and our ongoing pinochle tournament, it will be nice for both of us to have our own space again soon. Abe can then start the demolition process on our own house instead of Grandpa and Grandmas!! ;)

October 1 is the date set for Emri's spinal rod lengthening surgery in Baltimore. We will be flying out a week early to have her plethora of appointments with the docs in Baltimore, and, Lord willing, we will be out of the hospital within a week after surgery. This IS supposed to be a less intensive surgery, but once again, every surgery for Emri is a big deal. She will, of course, need a significant amount of anesthesia, will be hooked up to a vent, and will be dependent on pain meds for a while afterwards. We have heard that although these lengthening surgeries are not as incredibly painful as the actual initial rod insertion, they are still pretty uncomfortable. Also, there is always risk of more lung issues from being put out and being on the vent. I am continually praying that God blesses our sweet girl with a quick and complication-free recovery.
We left for our trip to CA on July 26th and returned on August 6th. We were the crazy couple that decided to drive all the way there and back with a 3 year old and 9 month old. Surprisingly enough Abe was a little angel! He would make a sad little wimpery sound when he was hungry or needed his diaper changed, and slept through a majority of the trip. Emri was good too, but struggled a little to get and remain comfortable. Whoever wasn't driving was constantly re-adjusting her and stuffing blankets and towels in her car seat in an attempt to make her more comfy. She was happiest when she got to watch a movie on on the dvd player, despite the fact that it froze every 3 seconds...she didn't seem to care. I think she just felt cool because she was watching a movie in the car!
The first half of our trip was spent with family in the Escondido area. It was great to reunite with aunts, uncles, and cousins...and we even got to meet a few second cousins that we had only ever seen pictures of! 5 days of socializing, laughing, game-playing, and site-seeing later, we were headed to the marfan conference in LA.

The first day of the conference was clinic day...the day of appointment after appointment after appointment...but with doctors who know marfans...which is always quite refreshing. We first met with an eye doctor that worked at Cedars-Sinai, the hospital where the clinics were taking place. He wasn't even a bit helpful with his "not sure why you are here because we aren't going to do a full eye-exam on Emri anyway" attitude. Well, the reason we signed up for the eye clinic in the first place stemmed from our hope to see the famous Dr. Maumanee, with her strong Russian accent. This is a doctor who knows marfan eyes...which are complicated. She walked in after the first, slightly aloof Cedar-Sinai doc and did a full blown slit lamp exam on Emri. She told us that Emri needs a stronger -25 to -30 (her RX right now is -16), and that Emri's eyes right now are about "as bad as they come." In short, Emri has thick, balled up lenses in front of her eyes that are blocking her vision. HOPEFULLY, these lenses will completely dislocate and slip down from in front of her eye. If this happens, Emri's prescription will lessen and she will be able to see much better for a long time...20-30 years before they would start agitating the eye and need to be removed. However, it could happen that the balled up lenses, in the process of falling, get stuck and can't fall all the way down...causing major irritation and which case, they would have to be removed early...which vastly increases the risk of retinal detachment (blindness if not surgically corrected within 48 hours by the right doctor). Uhg...just uhg.
The next appointment was with Dr. Sponseller, Emri's orthopedic surgeon. We talked a little, but mostly just decided we would be talking in Baltimore, for Emri's lengthening surgery soon enough. Sponseller showed Emri's beautiful back off to another Cedar-Sinai Dr. and explained how he did her surgery...which I don't always enjoy listening to.
We met with Dietz next. Have I already mentioned that he is just amazing?? He read Emri's last three echo's, including one that we had gotten the day previous at Cedar. He told us that Emri's aortic root is actually more stable than the doctors at Seattle Children's were reporting it was. He was getting about the same measurement in all three echos, but said that he understood where Seattle was getting their measurement too. It all depends on your angle of measurement. We were SO happy and relieved to hear that oh-so-encouraging word...STABLE. Yes, yes yes!! It was good news, but there was a little bad news too. All three of Emri's vavles are leaking more. Her mitral valve now has moderate to severe leakage, her tricuspid is now in the moderate category, and her aortic valve has started leaking now too. Dietz told us that Emri's heart is enlarged to make up for the increased workload that comes with leaky valves, but that so far, it is handling the increased strain well. He said he will be watching her "like a hawk" and will be honest with us when he starts to get nervous. We are hoping that we can hold off on any valve surgery for a while...but know that it is most likely something we are going to have to deal with sooner than we had hoped.

Oh! Cute little story. While we were speaking with Dr. Dietz, his wonderful genetic counselor offered to play with Emri in the waiting room. When we came to get Emri after the meeting with Dietz, Gretchen told us that her and Emri had great time "grocery shopping for cheese", "celebrating Minnie's 5th birthday", and dancing. Couldn't help but laugh at not only Emri's wild imagination, but also her willingness to let Gretchen participate in it!

We also saw a Pulmonologist from Hopkins, Dr. Neptune, who has seen many, many marfan kids and adults. We didn't have many recent chest x-rays, but we agreed to meet up with her in Baltimore, after Emri's surgery, to review the x-rays that Emri will be getting during surgery of her lungs. Emphysema is a big issue in kids with severe marfans. It is devastating to see how many kids get taken because of rapid emphysema progression. Emri has lung blebs, or air pockets in the lung, which are the start of emphysema...but we are holding on to the hope that the medication she is on will halt it's progression...and looking to the future for more promising treatments. It's a hard one for me to digest...and even harder to talk about because of how many kids I have seen suffer with this horrible disease.  
The rest of the conference was informative with all the new studies coming out and fresh results from this past years' studies. We are so thankful for the people that pour their lives into helping people with marfans and other connective tissue disorders. I don't like to imagine where we would be without them. Once again, Brett and I found it hard to be in breakout sessions with parents of kids with less severe marfans. It's so hard to sit there and listen to other parents complaining about issues that are so much less life-threatening than the issues that we are dealing with in Emri. I know that to these parents, these are real and valid concerns, but it becomes easy to feel a little resentment...which I know isn't good. There are other parents at the conference with severely affected kids and it is so, so refreshing to talk with them, cry with them, and hug them. We have been forced into a friendship, but it is such a helpful and meaningful friendship. Hanging out with these wonderful moms and dads is one of the biggest reasons we go to conference. Emri had a great time connecting with other kids with marfans, and siblings without it. She was all laughs the first night we hung out with other families...Emri played the part of "tickle monster" and was "running" around on her knees trying to tickle everyone and anyone in her path. Another very important reason to go to conference...Emri making connections that will be so helpful for her...especially in the future.


It is always so hard coming back from the conference and splashing back in to "normal" life...whatever that is. It's hard to talk about the conference because of the many intense emotional experiences that took place....not so easy to explain. It's hard to leave a place where other people "get it", and exceptionally difficult to part with families where the connections we make inevitably run so deep. At the very end of the conference, a special mom, Suely, of a child, Ethan, with severe marfans was speaking in front of the 600 conference attendees about being a mom of a kid with marfans. During her speech, Suely was receiving call after call from the nurse that was with Ethan. She finished the speech to find Ethan struggling with nausea, low oxygen, and extreme fatigue. The ambulance came to pick him up and they left to get him evaluated at Cedar-Sinai. We were so sad that we never got to formally say goodbye to them, but even more heartbroken for poor Ethan. Fortunately, everything ended up being ok...but I received a text from Suely while we were on the road heading home from the conference that said "...the life of a marfan mom!" Oh man, it's so true. One minute your heart is soaring with pride for your child who has "overcome the odds" and the next minute you are in the hospital praying that he/she does it again! It's a hard life, but it's a beautiful life. When your child is sick...perspective changes. Only the important things matter.
God is our rock through this all. There are so many times I feel so unprepared and unable to deal with all of it... but He continues to give us what we need to move forward. Because we have been faced with the reality of death, our view has and must always turn to Heaven and the promises our precious and powerful Savior has made for those who choose to believe. We could not be more thankful for this.

“What no eye has seen, what no ear has heard, and what no human mind has conceived -the things God has prepared for those who love him..."

"My sheep listen to my voice; I know them, and they follow me. I give them eternal life, and they shall never perish; no one will snatch them out of my hand. My Father, who has given them to me, is greater than all; no one can snatch them out of my Father’s hand."