Mr. Brinley 1/25/08-4/27/09 This is our story, our life. Please stay in touch for events and fundraisers for MPS research!
Brinley was born at 39 1/2 weeks gestation at Norton Suburban Hospital by cesarean. He was 8 lbs and 20 in. long. His apgar scores were 8 and 9. The perfect little boy! After about 15 minutes the nurse took him to the nursery after noticing some rapid breathing and grunting. Both signs of respiratory distress. The Doctor was waiting for our arrival to the mother/baby unit only to report disturbing news. Brinley had been transferred to the NICU. He needed oxygen and IV fluids to keep him hydrated and provide nutrients. At this time his diagnoses was uncertain. It was down to pneumonia or aspiration of amniotic fluid. They were waiting on results of blood cultures to come back. He was soon given the diagnosis Aspiration of Amniotic fluid. The Doctors said he just sucked in some fluid with his first breath and couldn’t get it out. He was able to breastfeed by this time and come off the IV’s and feeding tube. By the end of the week he came off the oxygen and could go home!
Little did know there would be far more to Little Brinley’s story! Brinley turned into a healthy little chunk! Just as his sisters, he ate well and grew ‘normally’. He was a little slower at some things like rolling over and hated tummy time, but again so were his sisters, so we were not alarmed. His growth charts and developmental charts were right on track! At 5 months of age Brinley started sitting without help. We did notice he appeared to slouch. Again he was a pretty big baby and he seemed to follow right along with his sisters growth record!
Around 5 1/2 months we tried the much awaited cereal. (I try to follow the rules) He seemed to hate it and gagged a bit. We kept trying a little here and there,but didn’t push or force, and he improved with each try. We were unaware there were reasons that lay in his little body we had not yet discovered.
By the time he was nine months old we began to wonder about his back. He still appeared to slouch, but as he grew longer, a knot on his back became more prominent. His spine appeared to curve out. We expressed or concern with his pediatrician, Dr. Heustis, at Brownsboro Park Pediatrics. She didn’t skip a beat! She discussed some coarse features and now this knot on his back and expressed here concern as well. She ordered a CT scan of his back and recommended a genetic consult. The genetic consult was suppose to be a 6 week wait. She also heard a heart murmur and recommended an appointment with cardiology.
The ‘coarseness’ of his face she was talking about was his light hair and dark eyebrows, bridge of his nose, and head shape. We were still a little confused because I had dark brown eyebrows and white hair as a child, and not to mention he is the spitting image of his father!! That boy looks like a Craig!! We were in slight disbelief, but as I said before we try to follow the rules and we have incredible trust in our Doctors.
We went two days later for his CT scan. He was sedated for this, because he had to remain completely still. The results were read that day, and we got a call to see the genetic doctor the very next day. Being this was suppose to be a 6 week wait, we knew it was bad. The spot on his back was called a gibbus deformity. They also found he has kyphosis, which is an abnormal curvature of the spine. By the time we saw Dr. Gowans, the genetic Doctor, and Kathryn Platky, the genetic counselor, they already had it narrowed down to mucopolysaccharidoses or MPS.
However they were unsure of which type. There are 7 types, but they had it narrowed down to two, Hunter’s Syndrome or Hurler’s Syndrome. They gave us a quick rundown and ordered more tests to confirm the type. We went directly to Kosair’s from there, and they obtained blood and urine for labs and a skeletal survey (x-rays of entire body). We were told the skeletal survey would be read that day but the rest would be about 3 weeks. The skeletal survey showed significant changes to his bones (the shape was deformed) already which is indicative for Hunter’s and Hurler’s.
Waiting is torture… Dr. Gowans put a rush on the results so we got the back in about a week and a half. It was confirmed Brinley had (has) MPS I or Hurler Syndrome. The most rare and severe. This was like a slap in the face. We had gone from a harmless worry of his back to this rare genetic disorder with no cure. Ours sons life was in danger. There were so many emotions rushing through our bodies, we didn’t know what to do!
Sadly, Brinley had been silently fighting his own body since the beginning of life. Here he was 9 months old and we were just finding out. This can be diagnosed before birth by amniocentesis. I’m not over 35 though, so it was not even recommended or mentioned. It can also be diagnosed at birth, but it is so rare that it is not part of the newborn screening. It is rarely even heard of. It effects 1 in 100,000 births. Both parents carry the affected gene; the child has to get both to be affected with Hurler Syndrome. There is a 1 in 4 chance.
Hello All! Thank you so much for all your support with the toy drive. We had to take two trips! We had two very full car loads to the Ronald McDonald House and Kosair Children's Hospital. We made a lot of kids smile! All money donated was matched by Brinley's Promise plus 25%! It was an amazing feeling giving all those gifts plus gift cards and Christmas cards. The girls enjoyed it so much! We are so grateful for all of you! Thank you! I will be posting pics and more detail here and at www.brinleycraig.com soon!