(Originally published to Sam’s Caring Bridge site on 4.28.19. To read all previous entries from Sam’s NICU journey, visit his Caring Bridge site: https://www.caringbridge.org/visit/samueldwenger)

We returned from Baltimore Saturday evening. It was a long, exhausting trip in the car, and unfortunately the visits with the doctors did not provide us with good news for Sam’s condition. 

On Wednesday when we left, we followed up with Dayton Children’s to see if the blood results on his possible genetic mutation were ready yet. They had said 2-4 weeks and it had been just over 2 weeks. She said she would do some checking and at our first pit-stop of the trip she called while we were eating lunch to say they did find a confirmed mutation that had been seen/found before. While she couldn’t tell us exactly what it was, she forwarded the full results to Johns Hopkins so that they would have it for our appointment the next day. This was good news that they found something that had been seen before because they would know how to treat it. We stayed in Hagerstown, MD on Wednesday night, about 90 minutes from the hospital. Sam got to swim in the pool that night before having a restful night where he slept all the way through despite the noises of the hotel. 

We drove into Baltimore and met Liz’s cousin Cindi and her husband for lunch. They treated us to a very nice lunch at a seafood restaurant (we were in Baltimore – crab cakes!) before we drove over to the hospital. The first appointment was with the orthopedic surgeon – Dr. Sponseller. He and his resident looked at the x-rays from Sam’s skeletal survey taken in Dayton and we got to see some of the bone development problems Sam has. While his leg and arm bones are straight joint-to-joint, they curve out at the joints (think of a capital “I” but with wider top/bottom) which will cause his joints to become enlarged. He also has a lack of cartilage, which causes his joints to pop quite a bit, though this is not creating any pain for him today. His spine has a few issues. First, the spinal vertebra are supposed to be more rectangular but instead are triangular and flattened. Second, he has kyphosis, which means his spine curves in and creates a hunchback appearance. At this point the doctor said he does not think Sam needs a brace because he needs to develop his trunk muscles and a brace would prevent that, but we have to be very careful that he does not hunch over more as it will make the spine curve more in the way we do not want it to. More on all of this and long-term was explained at the second appointment. We did not leave feeling overly concerned, but that was about to change. 

We had to walk about 25 minutes across the hospital campus to the genetics doctor. This was the doctor who has a 6-8 month wait time that we were able to meet with in 5 weeks, and she is a world-renowned doctor for her knowledge with skeletal dysplasias (and she’s originally from Troy, Ohio!). We met with her genetic counselor who was the woman we spoke with on the phone a few weeks ago when we came into contact with Johns Hopkins. They asked some basic questions about our family history and Sam’s history before the doctor came in. When Dr. Hoover-Fong came in, she explained that the genetic mutation Sam had is consistent with “metatropic dysplasia” which is a rare form of dwarfism that will get worse as he grows to his full size. She spent time explaining to us the “macro” details of metatropic dysplasia, and then gave some details specific to what she sees for Sam based on the x-rays and examination she gave him. The easiest way to share this is to list it out, so here goes:

  • Metatropic dysplasia is a rare dysplasia that can impact both skeletal and neurological systems. This means bone growth as well as nerve issues, such as tingling, could develop.
  • Sam will only grow to be 3′-4′ in height
  • The curvature in his spine will likely worsen as he grows, and require spinal surgery to correct. Sam’s kyphosis is what she categorized as severe so we will need to watch this carefully with x-rays every 6 months and see how quickly it progresses.
  • With the spinal curvature being severe, Sam could develop breathing problems as his spine compresses due to lack of structure. We have to get a sleep survey done ASAP to ensure he is not experiencing lower oxygen levels, which could impact his brain. If he loses oxygen, he will need breathing support from an oxygen tank.
  • The curving of the bones/joints will make it hard for Sam to move over time, and will likely require surgery some time between 6-10 years old and again when he is fully grown before age 20.
  • His neck bones will need to be watched as the top of the spine and neck is susceptible to being “loose” and creating challenges with head control and possibly needing bracing.
  • Hearing loss over time is common. Sam recently had a hearing test and they said his hearing is great, but we will have to monitor it annually at a minimum.
  • General developmental delays with his physical motor skills, like crawling, walking, etc.
    • One bit of good news – Sam started to army crawl on the trip!
  • Two hospitals in the U.S. are “experienced” with metatropic dysplasia and associated surgeries- Johns Hopkins in Baltimore and Dupont hospital in Delaware.
  • This condition is somewhere between 1-100,000 to 1-1,000,000, so there are people in the U.S. with it and they will be putting us in contact with families who are open to sharing/helping us.

Pause here to process all of that. 

Liz and I still have not and probably won’t process it all for some time. The journey home was a somber, rainy drive in both weather and emotion. We are heartbroken with being hit by the full reality of Sam’s condition and more by the fact that he will have so many struggles in his life and has done nothing to deserve it – no child ever deserves these types of things. He will also get worse and we will have no control over it. We still are not fully ready to share what our feelings are beyond this, so hopefully we will post more updates in the weeks to come. In the meantime, we are starting with one day at a time, loving our time playing with Sam, seeing him try and do new things, and scheduling the necessary follow up appointments (sleep survey, MRI/CT in June, orthopedic visit with Cincinnati Children’s surgeon, back to Baltimore every six months at a minimum). 

Please continue to pray for the three of us. For Sam, he will have so much to endure. We know since the day he was born he has been a fighter, and hope that he continues doing so and not letting any barrier prevent him from giving all of us his beautiful smile and love. His back is of most notable concern because if it worsens it will cause breathing challenges and could impact his brain. For Liz and I, we have a lot we need to think about. How to get Sam all of the best care he needs, learning all about his conditions and how to help reduce the progressiveness of his disease, and always being able to provide him comfort in whatever he is going through. We haven’t even been able to think about how we will ever explain this to him, but when the time comes we want to ensure he understands and doesn’t blame God or become bitter – which has been a struggle for me in the past 72 hours. Also please pray for Liz and I to communicate constructively with one another under all of the stress and that we will be able to get the emotional support we need from others as well as the spiritual support we need through God. 

We are still so blessed to have Sam in our lives!! He got to get some pictures taken for his upcoming first birthday on the ride home, and we are excited to share them with you! He still has stolen our hearts and provides so much joy to our days. Thank you all for your continued support and care for our family.

Visit to Johns Hopkins

August 13, 2019

By

Jim

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