I have typed and deleted this post at least 100 times. I avoid getting too personal on my blog because it’s just not what I typically do, or what I feel you are particularly interested in seeing over here. But today I’m taking a break from decorating tips and DIY tutorials to share with you the story of my youngest son, Zephan. Zephan is currently 8 years old and is a rare and special boy! He loves trying new foods, writing stories, watching movies, and making people laugh. Zeph has a delightful sense of humor for his age and is quite the entertainer. He is our little ham and keeps us giggling with his antics. And Zephan is also a kiddo with a suspected rare genetic disease that causes his bones to be extremely fragile.
Medical students are often taught the adage, “When you hear hoof beats, think horse, not zebra.” In other words, the simplest medical explanation for symptoms is typically the best. This makes a lot of sense and probably saves people from undergoing unnecessary medical tests. However, sometimes those symptoms (or hoof beats) are not created by a horse at all. Sometimes it is INDEED a zebra! Although we do not yet know what is causing Zeph’s symptoms, one thing is for certain. Zephan is a rare medical zebra! #ZebrasforZephan
I knew something was wrong with Zeph from the time he was a baby. He was delayed in sitting up, crawling, standing, and walking. I worked as an elementary school counselor at the time and knew that early intervention services were free in our state and could be helpful. Zeph was evaluated at eighteen months and found to have significant gross motor delays. He qualified to receive physical and occupational therapy and began receiving treatment every week. But I always questioned why? What was causing my otherwise healthy and smart boy to struggle so much with walking, running, and jumping? Why did he always waddle when he walked, why were his feet so flat, and why did his ankles pronate?
Zephan also fell and tripped a lot. When he had broken three bones by age 3 from minor incidents, I pushed for a referral to see a pediatric orthopedist and asked for help. I was told that his X-rays appeared to be normal and to continue with the physical therapy. The orthopedist also added that Zephan “might not ever become a star athlete.” This comment angered me. My concern wasn’t about future sports. All I wanted was for my baby to be able to walk and run with less difficultly and to stop breaking bones. I remember Zephan asking me as a preschooler why he couldn’t run and what was wrong with him. Even he knew that something wasn’t quite right and that we couldn’t just “physical therapy” our way out of it.
We had a respite from broken bones for four years and I started to believe that maybe this was something he would grow out of in time. Zeph still couldn’t run or jump with much agility, but he seemed healthy, happy, and vibrant. I enrolled Zephan in kung fu this past fall and was so proud of how well he took to it! And then in October things all began to change. Zephan was pushed while playing around with a friend at school, fell backwards, and fractured two bones in his wrist. A few weeks later he was playing in a friend’s backyard, tripped over a ball, and fractured his femur–badly. It required two days in the hospital and a whole new way of doing everyday life. I begged the team of orthopedists that were tending to all of these broken bones to help direct us to someone who could help us figure out why this was happening. I was told to wait until Zephan was out of all of his casts. They assured me that Zeph would be walking again in two short months. It took Zephan over five months, and he is still not walking unassisted. (His femur did not heal correctly and will most likely need surgery in the future. Zephan walks with a walker.) I begged again for help and was referred to a pediatric orthopedist who looked at Zeph’s X-rays, said they looked normal, and referred us to a geneticist. Our insurance doesn’t cover genetic testing so this did not seem like a helpful recommendation at the time.
When Zephan tried to use a walker for the first time, he fell on carpet and fractured his other wrist. This was the final straw for me. We were not waiting any longer for someone to help us. I switched Zeph’s primary medical care from his pediatrician over to my own family physician and finally felt that I had a medical advocate on my side. I requested that Zeph receive care, two hours away from us, at Children’s Hospital of Philadelphia (CHOP) and we began making our rounds through the various specialists at CHOP back in April. We have visited the Metabolic Disease Center, the Orthopedic Center, and the Bone Health Center. Our next stop will be the Neuromuscular Program.
After all the medical tests, this is what we know so far for sure:
- Zephan does not clinically fit any known profile based on his symptoms, history, and blood work alone. They just aren’t able to diagnose him by looking at the current data.
- Zephan’s extensive blood work and urinalysis are all maddeningly normal, including his nutrition and mineralization levels (Calcium and Vitamin D).
- Zeph has severe osteoporosis of his bones. He had a test a few weeks ago called a DXA scan which measures bone density. A DXA scan score of +1 to -1 is a healthy score range, -1 to -2.5 suggests osteopenia, and anything lower than -2.5 suggests osteoporosis. Zephan’s score was -4.22. His bones are 42% eroded away.
- Zephan does not have any typical form of Osteogenesis Imperfecta. We paid the 2K out of pocket for a genetic test for a brittle bone disease called Osteogenesis Imperfecta. The test came back normal for all of the types of OI that they tested for.
- Zephan will begin bisphosphonate infusions to try and increase his bone density. This has side effects, isn’t typically used in kids, is somewhat controversial, and I’m not even sure is the best decision in the long run. However, it’s the only treatment available and we feel we have to do something to stop his bones from eroding away.
Our medical insurance is quite horrible and does not cover the cost of any genetic testing. In order to find out if Zephan has a neuromuscular disease, or a rare type of OI we will need to pay for more genetic testing. It is insanely expensive and my dear friend Darlene has started a GoFundMe campaign to help offset the cost of our already horrendous medical expenses. I didn’t ask her to do this and am so humbled by the outpouring of love and support for our family. I feel super weird and prideful about the financial costs involved in caring for our special needs kiddo. He’s our responsibility. Everyone has bills to pay and trials in life to deal with. And while my family is not well-off, we certainly aren’t destitute either. We are still living our lives, going on a summer vacation, and trying to enjoy each day as a gift. There were two simple things in life that I wanted to do with my boys when they were old enough: 1. Hike the Rocky Mountains and 2. Take them snorkeling someplace tropical. Zeph will probably never be able to hike, but he can still swim, so we leave for Cancun soon! I’m not sure what the future holds, so I’ll be darned if we don’t get to see some tropical fish together while he is still strong enough to swim!
What I’m asking of you is to pray (or send positive vibes) our way. Pray that Zephan’s doctors are able to find answers and treatment for Zephan. Pray that we are able to get the full genetic testing needed to determine his disease. Pray that Zeph will be able to walk again without the use of a walker and that his bones will become strong enough that he can play with other kids. Pray for all kiddos and parents dealing with the crushing effects of genetic disease. And pray for our health care system. I don’t know how anyone can afford to be sick in this day and age of insanely bad medical insurance.
Thank you for visiting me at my blog. This blog helps me pay the bills and keeps me sane! Your love, care, and concern for me and my family is incredibly humbling, and I’m so grateful for all of you. And hey, this prayer/positive vibe thing goes both ways you know, so please feel free to comment or message me with your prayer requests. I know there are a ton of you reading this right now that can relate. Xoxo!