As we continued to enjoy our new baby, we noticed Ryland was having a hard time meeting his first milestone (tummy time). He would cry inconsolably when placed on his tummy. It appeared as if he could not hold his neck in the upright position and he was in pain while trying to do so. After addressing our concerns with the pediatrician, it was determined Ryland had torticollis. Treatment for torticollis was pretty simple, physical therapy-two times a week. We also helped with the stretches from home in between P/T sessions. As far as the tummy-time, well, he never did take a liking to it.
At three months of age, Ryland was still crying. We thought maybe there was a possibility Ryland may be colic. We tried the gripe-water and I also started eliminating foods from my diet since I was nursing, nothing seemed to provide much relief. During a routine Pediatrician appointment, it was discovered that Ryland had a double inguinal hernia. We were given a referral to see a Surgeon. During the same visit, we were also given a referral to see a Cardiologist for an aortic aneurysm (murmur). After following up with the Surgeon, Ryland had his inguinal hernia repaired thru a surgical procedure on May 22, 2013. With the referral in hand, we quickly made our first appointment for Ryland to see the Pediatric Cardiologist. The Dr. performed a cardiac echo that showed mild aortic valve dilation. The Cardiologist referred Ryland to a Pediatric Genetics for possible collagen disorder.
Ryland had his first appointment with the Pediatric Genetics in July of 2013. At the time, the Dr. felt that other than the mildly dilated aortic root and the hernia, Ryland really had no other findings of a collagen disorder. After the second Cardiologist appointment, a repeat cardiac echo was performed, which showed worsening of the aortic root plus the mitral valve link. We were referred back to the Genetics for further testing. Testing was performed over a period of time from November 2013 to early March 2014. The testing performed was on urine and blood, which was sent to a lab in Philadelphia. On March 21, 2014, my husband and I were asked to repeat these words:"My son has Hurler Syndrome". This news didn't come to us as a surprise but it really did take on a new meaning when we had to repeat those words aloud.
Hurler Syndrome (MPS 1) is a rare genetic disease; this disease belongs to a group of diseases called mucopolysaccharidoses (MPS). With this disease, Ryland lacks an enzyme called Alpha-L-iduronidase; this enzyme helps break down sugar molecules called glycosaminoglycans (GAG) formally called mucopolysaccharides, found inside part of the cell called lysosomes. Without this enzyme, GAG will build up and damage organs, including the heart. Currently, there is no cure for this disease but there are treatments such as Enzyme replacement therapy (ERT) and Hematopoietic Stem Cell Transplant (HSCT) that can ensure an improved quality of life.
It has been a long and painful process to get to this diagnosis and the path we have now chosen for Ryland will not be an easy one. For us, we feel it's the best one. We will walk this journey with the Lord by our side as well as our family and friends. Please keep our Ryland in your prayers.
If you would like to learn more about Hurler syndrome (MPS 1) or other related diseases, visit mpssociety.org
If you would like to follow Ryland's progress on Facebook, https://www.facebook.com/RylandsRide
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