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