HME… short for Hereditary Multiple Exostoses. A disease that was completely unknown to me even as short as 3 years ago. But once a rare disease threatens your child you very quickly become intimately familiar with it. It’s so rare that I can’t just abbreviate it to nursing personnel when my son is admitted to hospital.
My son was born with a small bump on his right middle finger. Noticeably crooked. When I questioned the pediatrician about it he made an “educated” guess that my son hurt the finger inside my womb and that the bone just grew crooked like that. Yet it bugged me. Maybe it was motherly instinct? Due to this inexplicable uneasiness I often found myself running my hands over his bone structure… his spine, his ribs, legs, arms etc. He was about a year old when I felt another bump on his left rib, distinctively smaller than the one on his finger, but still. My ex husband thought I was paranoid and said he didn’t feel anything weird. He made my question my discovery… But where I was uneasy before, fear had now crept into my heart. However,I went into denial, I realize that now. I just didn’t want to believe anything could be wrong with my beautiful boy. I already lost my daughter. I also wouldn’t have any further children, I just couldn’t phantom anything threatening my baby. I continued with my constant exploration of his bones, hoping for the best, fearing the worst, but never willing to speak my fears out loud. I didn’t want to call things into his life and I certainly didn’t want to face my husband’s anger over my “paranoia”
He was 2.5 years old in October 15 when his aunt was diagnosed with stage 4 cancer. She was still so young and not one of us really understood the severity of her cancer, 3 horrifying months later, in January 16, she passed away. That same month I felt a huge lump in my sons shoulder blade. I will never be able to explain the fear that rushed over me. At that point in time, it was a year since I ended things with my ex husband. I didn’t even tell him about the new lump, or the doctors appointment, I just couldn’t deal with his ignorance.
At the pediatrician, he compared his notes and told me that my son has lost over 50% of the range he had in that finger at birth… that the growth on his finger was still growing. He was concerned, and although he didn’t speak it and told me not to worry, I guessed what he suspected when he said he wanted to refer us to a specialist who would probably biopsy one of the growths. Gosh, I was still raw with loosing his aunt, my daughter… I really don’t know how I got through that time.
I’ll just skip the weeks of waiting and get to the oncologists’ finding, he had multiple growths on his body (TWENTY EIGHT), but it wasn’t cancerous. I was so incredibly relieved, I couldn’t even digest anything she said after that. I was in a stupor of relief. But it was to be short lived. A couple days later she phoned me to say that she could see that I wasn’t in the right frame of mind to finish the conversation. Even though it’s not life threatening, he had a severe form of a disease called HME that would influence his quality of life, it was incurable, very painful… rare… She also saw that the shape of his heart was slightly too large and that he had a murmur in his heart. Now a murmur in young children isn’t uncommon, however combined with the size issue, it would be best to visit a cardiologist. She also referred me to the only specialist in SA that she knew off that studied in the HME field.
The visit to the cardiologist was a waste of time. By that time my child just couldn’t cope with all the tests, probing and such anymore. He screamed blue murder since we stepped foot into the hospital until we eventually left, making it impossible to check anything with his heart. They asked me to come back a year later. I haven’t yet. Some might judge and think I’m a bad mother, but my child had to go to the hospital so many times after that, and every time he left absolutely traumatized, I pray by next year he will be old enough to understand that they are trying to help him and not hurt him, so that we may successfully eliminate any possible heart issues. I do however watch him closely for any of the signs I continuously research online.
More about the disease… I’ll just quote if I may…
“Hereditary multiple osteochondromas is a rare disorder that affects bone growth. Bony tumors (exostoses or osteochondromas), covered with cartilage, typically appear in the growth zones (metaphyses) of the long bones adjacent to the areas where tendon and muscles attach to the bone. These growths vary in size and number among affected individuals, even within the same family. Some individuals will present with a few large “lumps” while others will show several small growths. The median age of diagnosis is three years and almost all affected individuals are diagnosed by 12 years of age.
In many cases, no treatment is required. If the exostoses are small, they may have little or no effect on the patient. However, in more severe cases, the growths may cause deformities of the forearm, knees, ankles, spine and/or pelvis. They may impose upon nerves, tendons and/or blood vessels, and interfere with movement or circulation, causing substantial pain as a result of pinched nerves or compressed tendons.
Bones that develop exostoses most often are the upper arm (humerus), forearm, knee and shoulder blades (scapulae). Bowing of the forearm and ankle are the problems that most often require surgical correction.
Approximately 40 percent of affected individuals have mild short stature as a result of shortened and/or bowed legs. If the vertebrae are affected, spinal cord compression may result, causing numbness and/ or paralysis. Urinary obstruction has been observed due to exostoses of the pelvic area.
The bony growths that characterize this disorder continue to grow until shortly after puberty at which time normally new growth no longer develops. The risk for development of malignant (cancerous) tumors, mostly chondrosarcomas, is approximately 1 to 5%.”
That’s that in a nutshell. So yes… hereditary. How my mind spun when I heard this. I did see my ex husband had deformities on his hips, knees and ankles. However in his youth he was such a street fighter and to this day he would rather die than go to a doctor when he is sick or fractures something… What is up with that in any case!
Anyway I just assumed his deformities were due to fractures he didn’t take care of properly. He didn’t want to discuss it and I assumed it was yet another forbidden topic. To say I was furious with him when my son was diagnosed would be putting it mildly. However, I knew that God knew better… naturally… and I do realize had I known there was a 50% chance our children would suffer such a painful disease I would never have fallen pregnant with him.
I’m not saying I don’t want my son… I love him and his brother with all my heart and I wouldn’t give them up for ANYTHING in this world, but to see him suffer with the pain, the deformities that are becoming more and more visible… it breaks my heart. I would gladly exchange with him and carry his disease just to see him happy and healthy! I fight the fear but when I’m helplessly watching him limp… or hear him cry out in pain… I feel so terribly overwhelmed and scared… and alone. I know that the quality of life I try and secure for him will ultimately influence his decision to one day having kids of his own. It’s a responsibility that really weighs me down.
Besides being mom and dad of a child with special needs, I have to try and maintain a sense of a “normal” household, hiding his disease from his elder brother, who emotionally suffered enough in his own short life… This proves be a tall order, which by the grace of God, I’m managing by taking it one day at a time. I just don’t dare ponder on the future, or look too intently at my son’s drooping shoulder line, the grotesque knees… God please you need to carry me through this journey!