In early 2023, about a year after I shared my son’s story of Caffey disease, I heard from another parent going through the same thing for the first time. Krystyna contacted me after reading my article and shared her son’s story with me. Our boys have many similarities and I was able to offer some comfort to her by sharing an update of how well my son’s legs had recovered since the first impact of Caffey disease.
Her son was seven months old when we first started talking and she was worried about his future of being able to walk since he was also affected in his legs. I shared how my son was able to walk on a normal timeline, without stress on his legs, and encourage her. Thankfully, her son’s path has also gone well as he’s grown over the past year and a half.
While we connected over something that brought us so much anguish, I’m still very grateful to know Krystyna and have that connection to another parent of a child with Caffey disease. I am also grateful that she is willing to share her story with us about what she has gone through. It’s not easy to remember the hardest times and I appreciate her time and effort in this interview.
This is the second interview I’m able to publish about a parent’s perspective of having a child with Caffey disease (the first was Malina from Bulgaria) and I hope that it helps future parents to know they are not alone.
Q&A with Krystyna: her experience with her son’s Caffey disease.
Thanks so much for sharing your story! Can you tell us a little bit about yourself and your family?
My name is Krystyna, I am a mother of two: Marysia is 4 years old and Krzyś is almost 2 years old. Together with my husband Adam, we live in southern Poland.
When did you first notice that something was potentially going on with your son’s health?
It was just after my C-section. I noticed this strange kind of look of the neonatologist. My son’s right leg was swollen and the foot had a bad-looking angle. The doctors had no idea what that could be and they even thought of cancer. It was very scary moment for our family and at that time I could not even think how well this could end for us.
One of the possible diagnoses for my son’s swollen legs at birth was also cancer, so I can empathize with you on just how scary that is to hear. The time after birth is already hard enough and then suddenly you have a new and mysterious issue to deal with. What happened after the Caffey disease symptoms appeared in your child?
My OB reviewed all the previous ultrasounds (USGs) I had during pregnancy but there were no symptoms visible (in the last USGs the leg was not visible at all so most probably the disease developed in 3rd trimester). Krzyś didn’t moved his leg and had it always up in the air, he simply could not straighten out his leg. At first it seemed that it was not painful but later at home we knew we need to be very careful by changing his diapers or clothes.
When he was less than 1 month old, we went to see physiotherapist and it was amazing: she was able to fix his hip and ankle that most probably were malfunctioning because of the incorrect position and the pain he had suffered during the pregnancy. Slowly, Krzyś started to move his leg more and more every day. We couldn’t be happier!
But suddenly, we noticed that something was wrong. He cried a lot, couldn’t sleep well and gradually stopped moving his other leg. We could feel that his left shin is swollen and it was getting worse very quickly. The skin had to stretched really fast and it even got shiny. The other leg though, was getting better and it was bare-eye visible that it was not so swollen as before.
I had the same experience as you with all of my ultrasounds appearing normal to my doctors. I know they aren’t always accurate, but I can’t help but wonder why they didn’t catch the swelling in my son’s legs, as they were visible. My son also didn’t move his legs in my third trimester, which I felt was very alarming. But in our case, it didn’t seem to affect his hip or ankle in the same way as your son.
Another similarity is that we had a very difficult time changing him at home because of his painful legs. It was such a relief when things improved, but for you it was a short-term feeling since the other leg began to swell so quickly. What happened next?
After all of those symptoms appeared, me and my husband were convinced that it is Caffey disease. We read the entire internet because we felt that no one is able to help us. We had the first X-ray scan at the hospital, 2 months later we had MRI and we knew it was nothing cancerous. Several orthopedists advised that we should wait and see how it would develop.
When the left shin started to grow and to be painful, they did not believe that it may hurt and we were positive about that. Our kid was suffering and we were without diagnosis. We decided to run a genetic test of our own and we got the positive results: mutation of Col1a1 gene. (for the reader, this gene mutation confirms Caffey disease).
I can only imagine how it must have felt to not have the doctors on your side. I am amazed at how you and your husband persevered through such a challenge to essentially figure out the diagnosis of Caffey disease on your own. I applaud you both for researching and advocating for Krzyś. How did you feel, as a parent, while you were going through this?
We were really depressed. Having no diagnosis, hence not knowing the future was the worst. We felt that no one can help us. We went to several doctors in several cities and most of them didn’t even have a clue about Caffey disease while me and my husband were almost convinced it is Caffey disease. Only 2 doctors admitted we could be right but it was at the time we were already waiting for the DNA test results.
I’m so sorry you were alone in this process. I hope that the doctors can learn from this experience and help others in the future thanks to the work you did. What happened when you received the diagnosis of Caffey disease?
I felt relief after the DNA results and now I tend to say that Krzyś has the best genetic disease ever – which other disease resolves on its own without any treatment? Of course, back then we were worried: would crawling be painful? Is he ever going to walk? We agreed with the orthopedist to do the scans periodically and while one leg was healing, other was still getting worst.
That feeling of the unknown about your child’s health is one of the worst things to go through as a parent. Like you, I had so many questions about life would be like for our son. Although I agree, it was a good thing to not have to treat it with medicine or therapy; just wait for his body to heal. What has been the hardest part of going through this with your child?
Not knowing the future. I wanted to skip to the time when he is 2 years old for example, running all around the places feeling no pain at all. Other difficult thing was that the information in the internet is only from the medical point of view – there was no parent’s version of the healing story. I was really lucky to get in touch with one mama from Ireland and also with you
Yes, that’s so true, all the medical literature feels so impersonal when it’s your child you’re trying to learn about. I’m glad you reached out to me and others for connection. Now you’ve come all this way and your son is nearly 2 years old. Do you feel hopeful that the condition will improve over time, or has it already started to improve?
My son stood up on his feet by 7 months old – it was totally amazing. He was in pain first 6 months, later it was less severe. He is extremely fit and he surprises me every day.
What worries you the most about your child having Caffey disease going forward?
I am worried if the bones will grow equally in both legs. We know it is possible to fix that by an osteotomy surgery but of course this is not something that we want for our child. Also, the bones are bowed and this is clearly visible – we hope it will improve too. I am also worried what would happen if he breaks his leg as he is really fearless and feels almost no pain at all (he has some problems with perception of pain and kinaesthesia (awareness of your body’s position and movement) – it may be a result of the disease)
It’s really interesting that we have this in common – our sons’ legs are bowed – when it’s not necessarily connected to the disease according to medical professionals. I can tell my son’s legs are bowed but I’m not how obvious it is to others. My son is the same as yours in being fearless, clumsy, and having a high pain tolerance – he’s taken many falls and kept going when I thought surely, he’d be hurt. Since his father has the disease and broke several bones growing up, part of me feel like it’s just a matter of time until he breaks one.
What led you to reading my article about Caffey Disease? (Which I’m SO glad you did and we connected!)
From time to time, I check the Internet and search for new information/stories about Caffey disease. I wish I had read your article before. I would have been calmer after reading your story.
I wish I could have been chatting with you from the beginning, it breaks my heart to think of how hard it was for you. But I’m glad we can talk now and even share our story with others. Is there anything else you’d like to share with other parents about your experience having a child with Caffey disease?
Don’t be afraid to use pain relief: Paracetamol (Tylenol) and Ibuprofen (Motrin). We, as parents, know the best when it is time to give our child the next doses.
That’s a great point! When we were discharged from the hospital the doctors encouraged us to use Tylenol liberally to help our son with his pain. They didn’t want him to be kept from sleeping or eating because of the pain that Caffey disease could cause. In the US, we are not able to give babies ibuprofen until they are 6 months old, and by that time we didn’t feel like our son needed it as much. His pain was largely better by about 2 months old. But there’s certainly no reason for our kids to suffer when the pain medication can help them.
Thank you again, Krystyna, for your time and energy put into sharing your journey. I hope that this can help other parents in the future have an easier time if they are going through a diagnosis journey or simply trying to navigate what’s ahead of them if they have a child with Caffey disease.
If anyone would like to reach out to Krystyna (or to ask for any clarification in Polish), please reach out to her on Facebook or contact me at mymeenalife@gmail.com!
Featured photo via pexels; Pinterest photo via pexels and modified by My Meena Life.
