A Big Update on Aubree

We have so much to be thankful for! We are especially thankful for our sweet miracle, Aubree. When Aubree was born, she had respiratory complications that kept her in the NICU for 4 weeks. During her time there, the super attentive and skilled NICU doctors and staff noticed Aubree had a ribcage that was smaller than normal and long bones that were shorter than normal. After a few months of consults with a geneticist, skeletal X-ray evaluations, and genetic testing, we found out Aubree was born with an EXTREMELY rare genetic disorder called Jeune's syndrome, also called asphyxiating thoracic dystrophy. With this disorder, the main issue is that the rest of the body will grow at a relatively normal pace, but the ribcage grows very minimally if at all.  This is such a huge issue because, while her lungs are normal, they cannot grow beyond the container they are in (her ribcage).  So as she grows and her oxygen needs increase as they would with any child, her lungs are not growing to meet that need and are having to work much harder to meet her oxygen requirements.  There are other potential complications.  More can be read about Jeunes syndrome here. 

At Aubree's first geneticist appointment after finding out her diagnosis, we were told she had already reached 2 great milestones: she was born alive and we got to take her home. As far as we know, she is the only child living in Arkansas with this genetic disorder. The occurrence of this syndrome is about 1 in 130,000 with a mortality rate is 60-70% in infancy and childhood for children affected with this syndrome. Our sweet girl is truly a miracle from God! Because of her smaller than normal ribcage, Aubree's lungs cannot fully expand. This mean she doesn't have the lung reserve of a typical person, which is able to keep you still breathing normally even when you are sick with some type of respiratory infection. Because of this, any type of cold or flu is potentially lethal for Aubree, and we have to keep her isolated from germs as much as possible. Only home, the doctor, or outdoors for our little sweetie right now!

One of the only treatments available for helping expand the ribcage and lung volume for children with Jeunes syndrome is a major surgery of the implantation of a VEPTR (vertical expandable prosthetic titanium rib).  Basically, an expandable curtain rod type device is attached to an upper rib and a lower rib and the ribs in between those two are broken.  One side of the ribcage is done and then the other side is done a few months later.  The rods are expanded about twice a year in less invasive surgeries.  As the rods are continually expanded, the goal is for the broken areas to continue to grow new bone matter to gradually expand the ribcage over time, allowing the lungs to grow as the ribcage grows. These expansion surgeries will continue until the child reaches physical maturity and stops growing. 

Currently, Aubree is on a low flow of oxygen through a nasal cannula to help reduce her work of breathing (lower her elevated respiratory rate or breaths per minute, which in turn reduces her elevated heart rate).  Aubree has been on this oxygen for a little over a month and it has been so beneficial for her!  Her work of breathing has greatly decreased to closer to normal levels, and it has even helped her severe reflux practically disappear!  It doesn't inhibit her in any way, and she goes about her normal activities as happy as usual!  Concerning surgery for a VEPTR device implantation, we took Aubree for a consultation at Christus Santa Rosa Children's Hospital in San Antonio which sees children with this rare disease.  Since this is such major surgery, we are seeking a second opinion from Children's Hospital of Philadelphia where the inventor of the VEPTR system is currently practicing (he was previously at Christus Santa Rosa Children's Hospital where he invented and implanted the VEPTR system for the first time). 

Sorry for just now letting everyone know what is going on.  This was quite a shock to us as we had a normal pregnancy with no indication of Aubree having any genetic issues.  It took us awhile to understand what we were dealing with and to process all the things we were facing.  We know so many of you have been praying for us, and we appreciate it greatly!  Please continue to keep us and especially our sweet Aubree in your prayers! Pray specifically for Aubree to continue to stay healthy, continue to thrive and gain weight, for the doctors she sees to make the best evaluations possible, and for us to make the best possible decisions regarding Aubree's care and potential future interventions. 

We were completely unprepared for how much JOY Aubree has bought us!  She is the absolute light of our lives!  Seriously, she is amazing, and we praise God for blessing us with Aubree!  Please enjoy some pictures of our sweet daughter!