My Baby Has Caffey Disease: Our Story and Rare Disease Awareness.

A doctor told me my baby likely had Caffey disease when he was only eight hours old. We had to wait on genetic testing to confirm it, but the rare disease was already causing my son severe pain.

Somewhere around 3 in 1,000 infants are diagnosed with Caffey disease globally, although many are likely undiagnosed because the bone manifestations are minor and go unnoticed. But some babies can have bones that double to triple in width.

The doctors told me to try to avoid googling it and gave me a link to one academic paper to read. Well, I googled it anyway (of course). I got 122,000 results and only the first 100 results were even about Caffey disease. I scrolled on and on, hoping for something that wasn’t a medical website or an academic paper, until I became overwhelmed and discouraged. I could not find a single personal experience.

None of the doctors had seen it before, not the neonatologist or the geneticist, and none of the pediatricians we saw in the first month had even heard of it. The doctors kept finding it fascinating, while I was agonizing and wishing for just one person who knew what I was going through.

Finally, the week before my baby turned six months old, I met an orthopedic surgeon who was familiar with the disease and it was such a relief. Nonetheless, I would have loved to find a personal connection or read a blog post about a baby with the condition.

While Caffey disease is rare, it’s rarer for it to manifest at birth. And my baby had massive growths on both his tibias. There are only a few hundred cases that have been studied in the medical literature. Most Caffey disease research, including the article that doctors pointed me to while in the hospital, makes the following generalizations:

– the disease causes massive extra bone growth underneath the connective tissue that covers the bones
– these growths are often found along the shafts of long bones (in the arms or legs) or in the ribs, jaw, shoulder blades, and clavicle
– it usually causes fever, joint swelling, and pain
– it generally shows up between birth and five months and resolves by two years of age through a process called bone remodeling, where the body naturally reabsorbs the bone
– the primary plan is to treat any symptoms, such as pain, unless complications arise
– adults with the disease may experience relapses of bone growths, joint looseness, elastic skin, hernias, shorter height, and a higher risk for bone fractures and breaks

These statistics didn’t comfort me as my baby screamed in pain every time someone touched his legs. I wanted to hear from someone who knew what it was outside of the medical profession, so I’m writing about our experience to benefit future parents who are going through the same thing.

In this post, I’m going to share our entire Caffey disease journey to date with our thriving nine month old baby, plus why I think this rare disease needs more awareness and research.

Our journey with Caffey disease.

I began to have concerns about my baby at 32 weeks of pregnancy. He wasn’t kicking me hardly at all, but he did move in other ways. He started to fail non-stress tests – one after another. After a few rushed drives to maternal-fetal for extra monitoring and an overnight hospital stay at 36 weeks, my doctors decided to induce me at 37 weeks out of concern for my baby’s well-being.

He was born at 12:43 p.m. on a Saturday in May 2021 after 37+1 weeks of pregnancy. I had a rapid labor and everything seemed fine for the golden hour after birth. He was alert, eating, and wrapped up in my arms. I couldn’t see his legs.

Close to 2 p.m., the doctor came in to weigh him (he was either 7 lbs. 12 oz. or 7 lbs. 15 oz. – there was some confusion and he was officially recorded as the latter) and noticed that his legs looked quite swollen. I hadn’t even looked at his legs yet. She took photos and went to show another doctor. When she handed him back to me, I was alarmed to see that his legs were extremely swollen and one had reddish purple bruising from the knee down. It looked awful.

When the doctor returned, she told us the neonatologist wanted x-rays done and they took my baby for x-rays while I was still getting cleaned up from birth. Shortly after we transferred to our postpartum room I got the radiology notes through my patient portal and had a total meltdown. The radiologist suspected Caffey disease but noted that there were some abnormalities, including my baby’s bowed legs, and listed other things that it could be. Scary things, like cancer. This is part of what the radiologist wrote:

“Infantile cortical hyperostosis (Caffey’s disease) may be a consideration however is more common in mandibular and rib locations. While location is compatible with physiologic periostitis in this age group, features are more robust than typically noted in this entity. Infectious and neoplastic processes (syphilis, neuroblastoma etc.) are not entirely excluded.”

So I immediately felt like, even if it was Caffey disease, my baby was not a typical case (but this is not necessarily true, even though it’s what I thought in the beginning). Plus he had significant bowing of the legs noted by the radiologist. I was a mess and so scared.

My baby was in pain – screaming until we both cried during each diaper change – and I had just read that it’s probably one thing but it could be something so much worse. Do you know how hard it is to take care of a newborn without touching their lower legs? I never realized how often I’d inadvertently pull or press on them out of habit, and I had to relearn how to take care of him in ways that would not cause pain.

It was another three hours before the neonatologist could come in and speak to us about the results. He had been dealing with critical cases and ventilated babies all day, which did remind me to be grateful as my baby was healthy in nearly every other way. He had taken the time to read about the disease and even call the best radiologist, who was out to dinner, to review the scans.

He talked with us at length and felt pretty certain it was Caffey disease, although that had to be confirmed through genetic testing. The disease is rare enough at birth that he had never seen it in his 25 years of medical practice and he was quite fascinated, which was a bit difficult for me to endure as an upset and hormonal postpartum mom. But I was grateful for his thoroughness. He told us about how it goes underdiagnosed and asked if either my husband or I were fussy babies or had joint pain as young kids. I began to suspect that my husband may have had it as a baby based on several factors.

The next morning they took my baby for more x-rays to check for any other abnormal bone growths and found a smaller one on his clavicle. Watching them take my little baby off in his bassinet for his second set of x-rays before he was even one full day old was so incredibly hard. We were given referrals to a genetic doctor and allowed to leave that evening as I wanted to go home, sleep in my own bed, and be with my 3-year-old.

At discharge, the doctors told me to use Tylenol liberally for the pain caused by the extra bone growths in his legs. After hours spent reading about the disease, I had so many questions. How much would this pain and extra bone affect him? Would he be able to crawl? Walk? Would he be able to roll over and sit up or even sleep without pain? Would I be able to carry my baby/toddler if these things were delayed, considering my many physical limitations? There were so many unknowns and out of all of the complications I had possibly prepared for at birth this was not one of them.

At home, I learned how to change his diaper by rotating his hips instead of lifting his feet, which would cause excruciating pain. We had cute size 3 month sleepers for him, but we would just partially tuck his legs in instead of having to maneuver them into the foot holes, causing unnecessary pain. The extra fabric hung limply and made me sad for my baby.

I took these photos around one to two weeks of age.

I got used to picking him up and moving him around without putting pressure on his legs and remembering not to rest my arms on his legs, though if I forgot he was quick to cry out. I was so grateful we had decided during my pregnancy to do a click-in car seat and travel system instead of using a baby carrier, as I did with my first baby. After he was born, I did not want to jostle or move him any more than absolutely necessary and the car seat travel system turned out to be invaluable.

The genetic doctor, who normally books 6-9 months out, was able to get us in when he was only 12 days old. I was grateful, but being able to get an appointment reminded me of the urgency of the situation. I was in a daze of disbelief as we entered the genetics office. I kept reminding everyone to try not to touch or extend his legs.

The genetic doctor came in and talked about how we needed to do basic lab work for things like white blood cell count and inflammation, plus more x-rays and the genetic testing to confirm Caffey disease. There was talk of differential diagnoses, i.e. other things that could be causing this to happen. She talked about how we’d have to see a variety of specialists but told me not to bother seeing an ortho doctor, which was actually terrible advice. She also tried to push us to pay for the genetic test out of pocket instead of waiting for insurance because of the urgency (we needed to know if it was Caffey disease or one of the worse alternatives). I gave a sobbing yes but my husband held firm and the approval from insurance came through quickly.

He went in for blood work twice, once for regular blood work and then again after the genetic testing approval came through – he was about three and a half weeks old at that time. The second time he was a bit dehydrated and ended up being stuck several times. My mama heart could not handle my baby going through additional pain. His little band-aids made me cry.

Over the two months, the swelling on his legs seemed to lessen each week and his pain also started to fade. Eventually, I could touch his legs or move them a little as needed. I was hopeful that his body would absorb the extra bone quickly, and it seemed to be happening. Not long afterward, he began kicking and rolling vigorously, which was very encouraging.

When he was six weeks old I got a phone call from the genetic doctor to confirm that he does have the genetic variant for Caffey disease. We did Invitae COL1A1 testing and it revealed he has heterozygous pathogenic variant: c.3040C>T (p.Arg1014Cys). Apparently, there are a few variants and that is one of them. Paired with his symptoms, it confirmed his diagnosis.

The doctor didn’t have anything else particularly useful to tell me, as she doesn’t have much experience with the disease. She essentially read off from the study about the things he was at risk for and recommended that we follow up with her at one year of age. She discouraged me from seeing an ortho doctor, again, and I’m glad I did not listen. She did quickly send out genetic test kits for me and my husband. This genetic variant can occur spontaneously or be passed down, and I was nearly certain my husband had it based on what I’d learned at this point.

I hung up the phone with a dazed sadness. It didn’t change anything, but it was still confirmation of something that had turned our lives upside down for the past month and a half. I still hadn’t met a single person who had any experience of the disease aside from what they’d read. With all my previous medical issues, such as my autoimmune illnesses and my older son’s speech delays, there are tons of resources and support available. This felt different.

When I took him for his two month wellness check the pediatrician suspected that he had new bone growths on his forearms. He was quite a chunky baby so I had not noticed that it was bone instead of baby chunk. I couldn’t really tell if he was resisting putting weight on them or having pain due to his young age. But there was no need to expose him to another x-ray as there are no interventions for it, just pain management and observation. Later, he began using his arms more and I could see the curve of the growths more clearly.

Then, at his four month wellness check the pediatrician suspected new growths on his shoulders and lower back. They were all small but I was alarmed because it felt like new growths just kept on coming. So I asked for an ortho referral and my doctor knew just where to send me.

Around that time we received the results from our genetic kits and discovered my husband has the same variant for Caffey disease. The genetic doctor asked me questions like had he broken many bones (indeed, he broke four growing up), what is his height (he is on the shorter side generally), etc., and recommended he receive a bone density scan.

Since we knew my husband had it, we went on with testing for our oldest son, which also came back positive. My husband has a 50/50 chance of passing on the disease, and we got two for two. Our oldest never had any noticeable bone growths or issues, however, he does have quite a bit of hypermobility and skin laxity, which are associated with the disease. He is also very short but there are other possible contributing causes for his lack of growth.

The beginning of a more positive Caffey disease journey.

Right before he turned six months old, I was able to take him to the orthopedic surgeon we had been referred to about two months prior. Part of me wondered if the genetic doctor was right and if I was wasting my time because there was no treatment, but the other part of me knew that more information would not hurt. And, it also showed me that the genetic doctor lacks the education and foresight to see why the visit was important (I have since found another doctor to see for his one year follow up.)

The ortho doctor came in and told me he had worked with many Caffey disease patients. I cannot explain the weight that was lifted off my shoulders at that moment. It was what I had been searching for: someone with real life experience. He confirmed that my baby’s legs were pretty typical aside from the bowing, which he’s going to check on again at one year of age.

He went on to say that the biggest risk in our case was that my baby’s tibia and fibia would fuse together and have to be surgically corrected. He told me this also happens with infants that have large growths on their ribs – sometimes the ribs will fuse together. He told me that the risk of breaking bones was not significantly higher than the general population. A loose interpretation that he gave me was that this disease is similar to osteogenesis imperfecta (brittle bone disease) as far as the genes go, but if you were to draw a line between normal and osteogenesis imperfecta, Caffey disease would be just barely down the line from normal.

I later read in his notes that most patients with Caffey disease do not require significant orthopedic intervention, but that does not mean that none of them do. My nearly six month old was becoming very active at this point and I received the all clear from the doctor to let him do physical activity including crawling, standing, or walking.

I was worried about him bearing weight on what seemed like compromised bone, but the doctor wasn’t concerned. I’m very grateful that I had his reassurance because my baby started army crawling a few weeks later and there was no stopping him!

Me and baby at the ortho appointment.

That visit felt like a turning point for me, despite all the worry about how it would affect him long-term. I was blown away that he started army crawling at six months – I never expected him to meet milestones early! He started pulling up a little before turning eight months old and then a few weeks later he started crawling on all fours. This is one determined kid – he is active and strong.

I’m happy to say that he’s now nine months old and absolutely thriving. He doesn’t seem to have any significant pain and he can do just about anything he puts his mind to. He is crawling, pulling up, semi-cruising, and playing all day long.

Here are some photos of him being happy even in the earlier stages where there was still a fair amount of pain. There was a lot of stress for us as parents, but it only took a few weeks before he wasn’t irritable, and a few months until we could move his legs around normally.

He’s pretty heavy, about 22 pounds, but bearing weight doesn’t seem to bother him at all. I stopped having to worry during diaper changes several months ago. Now, when I try to change him it feels like I am wrestling an alligator and I’m barely strong enough to hold him down. Sometimes I even need to apply direct pressure to the area where his extra bone growths are in order to get the diaper on him, and he doesn’t react. He’s angrier about having to lie down and pause his playing.

I also put together some photos that can help show his bone reabsorption progression starting at three weeks and then going through six months. By the way, you’ll see these knee socks in the photos, which I purchased so that I could avoid having to put pants on him as much as possible earlier on – now he has no problem with getting pants on.

I hope this provides some insight into what it is like to have a baby born with Caffey disease manifestations at birth, and some hope that these babies can be quite resilient and move forward without significant issues. I will continue to share about his journey, especially as we wait for his extra bone to recede and have check-ups with genetics and ortho this May.

My concerns about the long-term effects of Caffey disease on my kids.

I do worry about my boys breaking or fracturing bones as they grow up (and they are particularly wild boys). My husband had several bone fractures growing up:

– At age three he broke his left arm falling off a bed; this was a minor break.
– At three and a half, he broke his right collarbone when he slipped on ice and fell.
– At age 17 he broke his left elbow when he slipped on ice (contributing to his determination to move south one day).
– At age 18 he broke a small bone in his left wrist when he fell while playing basketball.

In our opinion, some of these fractures can be at least partially attributed to the disease affecting his bones. He also had issues with his ankles (which was diagnosed as Sever’s disease – swelling of the growth plate in the heel typically during growth spurts). He remembers feeling pain and trying different shoes and shoe inserts to help with it.

This is the test kit we used for our Caffey disease tests; our kids had to have blood draws, but ours was a simple swab.

For our kids, I also worry about the joint looseness and elastic skin, these symptoms have already manifested in my older son, along with joint hypermobility. My baby also has an umbilical cord hernia, and hernias are also associated with the disease. There have been documented episodes of reoccurring bone formation in kids up to 12 years old.

I’m concerned about the shorter height. I’m not speaking negatively about shorter men, but I feel sad that a rare disease may cause them to be a less than average height. This has also caused issues with my oldest son. He is very short and medically failure to thrive, and we are not sure how much the Caffey disease may be contributing to his short stature. It’s hard to watch him standing next to his classmates at preschool because he’s significantly shorter than them. This, in turn, leads me to worry about him getting knocked over more easily and then breaking bones.

(I know, too much worry isn’t healthy. I’m in therapy for it.)

There’s also the fact that they have a 50/50 chance of passing it on to their kids if they choose to have them. Since they have this knowledge, it may be possible to ensure that they don’t pass it on (I was told that I could have genetic testing done pre-conception if I wanted to have more kids, but who knows if that would be covered by insurance). It’s certainly an added layer of complexity to it all.

Additionally, I can’t help but think there is more to the disease than the medical papers might lead us to believe. I hesitate to agree that it’s a “largely self-limiting disorder which affects infants” (Radiopadia). I think it could go much further than that. After all, there are only a few hundred case studies.

I would be more than happy to enroll my kids in a case study if people were studying this disease. There may be more genetic links, more ramifications, and more that we can do to help kids with it. But so far I have not found anyone that is studying it (let me know if you do!).

Furthermore, I am concerned that my baby had a prenatal form of Caffey disease. After all, he was born at 37+1 already having massive bone growths and having significant fetal distress for weeks beforehand. According to Radiological aspects of prenatal-onset cortical hyperostosis [Caffey Dysplasia], there is a prenatal form of Caffey disease and it was found to have a 50% fatality rate among the 20 individuals in the study.

The Pediatric Orthopaedic Society of North America states, “Early onset prenatal Caffey disease (less than 35 weeks gestation) is often fatal due to the severity and associated polyhydramnios, lung disease, and prematurity.”

I have no doubt it took more than two weeks for these bone growths to form, which leads me to believe that my baby likely had the prenatal form. I also had borderline polyhydramnios at one point, and he also didn’t take a lot of practice breaths in-utero. I did have steroid shots for his lungs at 36 weeks.

I have struggled greatly with my emotions on this. I wonder if my baby would have survived if I wasn’t a high risk pregnancy with extra monitoring or if my doctors weren’t willing to take action.

Some doctors blew off my concerns about his lack of kicks because “any movement counts during a kick count”, but thankfully other doctors took me seriously. I’ll never know how close he was to that danger, but I feel in my heart it was very close and I get upset if I dwell on it for too long. I am struggling to find closure about the end of my pregnancy and his birth (and again, I’m in therapy for it).

Raising awareness on Rare Disease Day.

I intentionally wrote this post in time for Rare Disease Day 2022 (which is on Monday, February 28^th) to spread awareness. While Caffey disease may be rare, 3 in 1,000 babies is still a lot of babies. And I personally believe that it warrants more study. A disease that can cause massive bone growths in infants, bone fusion, and even be fatal in the womb (in rare circumstances)? That’s not something to take lightly. My opinion is that it could be shortsighted to call this disease self-limiting and I think we have more to learn.

One thing I have learned from living with lupus is that we only have research and treatments because people spoke up. Truly – people with lupus felt like they didn’t have adequate treatments so they wrote their politicians and set up sessions at the White House to share their stories and advocate for funding and new options for treatment. That’s why the available treatments for lupus are growing and I’m grateful for the people that put in the hard work. Caffey disease is quite different from lupus, but it is still causing babies to suffer.

Rare diseases don’t get too much attention on their own, but we have this day dedicated to raising awareness for them. The rare disease ribbon is a jean material (for genes), and I got mine from Global Genes.

“The Blue Denim Genes Ribbon is a symbol of hope for more than 7,000 small rare disease communities around the world. Wear your denim ribbon to show your support on World Rare Disease Day.”

Global Genes

Here are some statistics from Global Genes about rare diseases:

– 50% of people diagnosed with a rare disease are children.
– Rare diseases affect 400 million people worldwide.
– Only 5% of rare diseases have an FDA approved treatment.

I’m happy to be raising awareness today. Please let me know in the comments if you have any experience with Caffey disease or another rare disease that you’d like to share.

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