Jacob Henry Bohley was born March 1, 2017. He is now a hysterical, sweet, loving 5 year old. Anyone who has ever met him knows the love he has for his Mommy, Daddy, his sister Mia, as well as his obsession with pizza and french fries. He is a light in our lives and an answered prayer.
On March 3, 2020 Jacob was diagnosed with a rare genetic disease called MPS1. A disease that both Alicia (hey there!) and Chad unknowingly passed on to Jacob. Mucopolysaccharidosis 1 is progressive disease that affects every part of the body. There is no cure and it is terminal. It only affects about 1 in 100,000. He is deficient in the enzyme alpha-L-iduronidase, which results in the accumulation of waste (GAGs) on his bones, skin, tissues and organs. If the diagnosis wasn’t devastating enough, on March 18th the DNA analysis showed he has the most severe form known as Hurler Syndrome.
Although there is no cure, there are two treatment options to help slow down the progression of the build up. The treatment options are weekly infusions of a man made version of the enzyme (which he would need weekly for the rest of his life) or a blood/marrow transplant. Neither will save his life, only possibly extend and help with a better quality of life. The main difference between the two is that transplant can cross the blood-brain barrier and will hopefully preserve his brain from degrading over time. When you google MPS1 Hurler Syndrome you read “life expectancy – 10 years old”.
The standard of care for children diagnosed before the age of 2 is the transplant. We decided that if he didn’t appear to be severely neurologically affected, that transplant was the best option for our family. In April 2020 we started Jacob’s pre transplant testing at Duke University Hospital in Durham, NC. We saw multiple specialists over the course of 2 months including Cardiology, Audiology, Neurology, Neurosurgery, Ophthalmology, ENT, peds general surgery, to name a few. He went through multiple in-depth tests including nerve conduction studies, skeletal surveys, countless xrays, multiple MRI’s, lumbar punctures, organ function tests, a neuro-cognitive evaluation and even had a bolt put in his brain to monitor his intracranial pressure. He has had more blood labs taken than I will ever be able to count and was under anesthesia for surgeries/procedures 6 times between May 15 and July 6.
On July 6, 2020 he had a central line placed in his chest and was admitted to the Pediatric Bone Marrow Transplant unit where he had 8 days of chemotherapy. On July 16, 2020 he received a stem cell transplant using unrelated umbilical cord blood. After 58 days we were discharged to a hotel within 5 minutes of the hospital. We needed to stay close because they would still see him in clinic everyday and because he was at extreme risk of infection, having little to no immune system. After 3 weeks in the hotel we were able to come HOME (Raleigh).
Again, this extremely risky procedure is not a cure. Imagine putting your child through all of that to not even be able to save their life. Within his lifetime he will need to continue to see multiple specialists and likely need other surgeries.
Since transplant, he has had bilateral carpal tunnel surgery (Sept. 2021), cervical spine decompression and fusion of C1 and C2 (November 2021) and bilateral hip reconstruction and plates in his knees (August 2022). Other future surgeries could include corneal transplants and heart surgeries. Transplant doesn’t help with the bones, heart or eyes.
Some states test for this through newborn screening once the child is born. NC was not testing when he was born in 2017. They have since passed legislation and should start soon if they haven’t already. So for the 3 years Jacob was undiagnosed, all of that waste that he can’t break down was building up all over his body. Some of the outward symptoms that led to his diagnosis were : his distended stomach (which is caused by an enlarged liver and spleen), his broad nose and bushy eyebrows (aka coarse facial features), corneal clouding, kyphosis (curvature of his spine), curved fingers, toe walking, knock knees, delayed speech and motor skills and reoccurring sinus and ear infections. Upon further testing we also discovered he has thickening to 2 valves in his heart, narrowing to a portion of his cervical spine, permanent hearing loss requiring hearing aids and pseudotumor cerebri.
Since his transplant Jacob has had some road bumps but is overall doing great. His speech has improved and he is >98% donor cells! There are some great things happening with gene therapy and science. Up until diagnosis we had never even heard of this awful disease. We will do everything in our power to raise awareness and talk of Jacob’s Journey with any opportunity we are given. With awareness comes funding, with funding comes research and with research comes a cure. We need a cure for our boy!
The more people we can make aware of MPS, the better! He is the most joyful, loving little boy. He deserves a future!
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