Saturday, August 2, 2014

Loeys Dietz Syndrome

An official word in our vocabulary now and used quite a bit these days...Loeys Dietz Syndrome.  About a week ago, we met with Amelia's genetics doctor and counselor to go over the results of the genetic testing and they confirmed Loeys Dietz Syndrome (LDS).  We expected these results, but it was a reminder that this is a lifelong's not going to end here.  LDS is a rare disorder that affects the connective tissue and there is no cure.  Because we have connective tissue throughout our bodies, people with LDS can have many complications, among the most common being vascular, skeletal, allergy and gastrointestinal issues.  Because of this, Amelia will be tested in the near future for scoliosis and have an MRA from the head to pelvis to identify arterial aneurysms.  

This past week we saw Amelia's hand surgeon and eye doctor.  Her hand surgeon anticipates some surgery on her pinky when she's done growing.  As for the eyes, we will follow up with the eye surgeon in 3 months to probably start patching and discuss possible surgery to correct an issue with coordination of her "v pattern."  This means that when she looks up and/or to the side, she loses coordination.  Please pray that surgery is not necessary.  All surgeries make me nervous, but any surgery on the eyes makes me really nervous!
Her weekly treatment continues on her hands, knees and feet.  She still has to wear her braces around the clock, but I took them off so you could see how good her feet look!  She loves to play with her feet when they're off, which I love to see, but makes me sad she can't do that all the time.  Oh the things we take for granted.  But, she doesn't even seem to notice.  In fact, regardless if they're on or off, she's trying to crawl!   

Despite these complications, we are very optimistic and hopeful for the future!  Maybe it's the known vs. the unknown.  I remember when I was pregnant with Amelia and the worry over the unknown would at times consume me to the point I could hardly breathe.  Now I look at my beautiful baby girl who brings us so much joy, I know everything about her was meant to be and I am beyond thankful for our Amazing Amelia.  Now we can move forward and hopefully provide Amelia with the best care possible in light of this diagnosis.  

"As far as I am concerned, God turned into good what you meant for evil."  Genesis 50:20

As part of this journey, about a month ago, Nels, Amelia and I were able to attend a Loeys Dietz Syndrome Conference in Baltimore, Maryland.  What a blessing that was!  We learned more about this disorder, what to look for, and possibly expect in the future.  I already feel more confident going into appointments with Amelia, knowing the posibilties. 

A very special man, Dr. Dietz!
At the conference, we heard a panel of physicians speak that specialize in LDS, as it specifically relates to the vascular system, orthopedics, allergy and gastrointestinal concerns.  We were especially excited to hear THE Dr. Dietz and THE Dr. Loeys speak.  
Amelia was star struck too!  :) 
Dr. Loeys!  He held her for a long time...I don't think he wanted to let her go.

Most importantly, we made some wonderful connections with other parents that are on the same journey, fighting the same fight!


When we first found out about LDS, I of course had so many questions, but most importantly I was concerned about the treatment options (or lack of) that we were being given related to Amelia's serious heart condition.  Gretchen, the genetics counselor that works with Dr. Dietz at John Hopkins University, contacted me personally!  This was our first connection to Dr. Dietz and his expertise, so we were very excited about this.  I still remember that first conversation I had with her over the phone.  She gave us the information we needed to pass on to our cardiologist...and what good information that was!  It saved her life!  Needless to say, we are very thankful for Gretchen and her part in our journey! 

In a previous post, I had quoted Mo Jurgens.  Mo's mom, Kate, wrote a memoir about Mo's life and the many obstacles they faced as a family through a lot of unknowns.  I have been reading this book, as it's been a great resource to me not only as a mom, but as we take this journey with our own daughter.  Mo was diagnosed with Loeys Dietz Syndrome at age 9. She has had 27 surgeries in her young life.  She will be starting her sophomore year in college for nursing this fall.  What a great nurse she will be!  I was so excited to meet them both...I have to say, I was star struck!  :)  

So, not only did I get to meet both of them, but before I really had a chance to get to know her, Kate took Amelia from me during one of the sessions so that I could listen, so cool!  I could only smile and thank God for stringing together every little detail; oh how He knew I would need that connection as a mom.  Not to mention many other moms that were instant friends!  Amelia was the youngest at the conference, so these moms have been where we are at right now and were quick to make sure I knew they were there for me if I needed them.  Exactly what I needed! 

The weekend went by so fast...I feel like I'm still taking it in.  Then I realize, Amelia is only 7 months old and I think back to all we've been through in this short time; life and death were thrown at us within months of each other and here we are now, watching our baby girl roll around, smile, talk and giggle!  Sometimes I feel like I'm just watching from the outside.  I can only say I have so very much to be thankful for!  God is without a doubt using Amelia to teach me so much!  

"Don't worry about anything; instead, pray about everything!  Tell God what you need, and thank him for all He has done.  If you do this, you will experience God's Peace, which is far more wonderful than the human mind can understand.  His Peace will guard your hearts and minds as you live in Christ Jesus."  Phillipians 4:6-7

If you would like to learn more about LDS, please visit In fact, as you pray for Amelia and our family, pray for the foundation, as well, as they continue to give so much of themselves in educating others about LDS, fostering research and supporting those affected by it.  I was reminded again this week of how rare this is.  Out of the many doctors and medical staff that have been involved in Amelia's care, her cardiologist has been the only one that knew anything about it.  THANK YOU again and again for your prayers and support!