This photo describes our life with Myhre Syndrome. I have always held Alec's hand and I always will down a path of the unknown but the scenery is beautiful.
Myhre can be scary. We all feel the burden of the unknown.
Alec has many of the conditions and characteristics of Myhre. The first 12 years were very difficult. He had so many specialists at Boston Children's Hospital. They were all treating him for various conditions. They just didn't know why he had all these conditions. They called him a complicated medical mystery. We were always at the hospital. We were admitted frequently from the visits. I had an emergency bag packed in the car for the overnights. He had a lot going on those first 12 years. He had ADHD, ear infections, ear tubes, the endless cough, short stature, a tumor, mid aortic syndrome, renal artery stenosis, astigmatism, hearing loss, poor vision, papilledema, cranial pressure, lumbar punctures, lazy eye, eye patch, breathing treatments, sensory dysfunction, non verbal, an odd growth on his foot which was not cancerous, globally delayed, learning disabilities, lower IQ, behavior issues, delayed potty training, white matter in the brain, worming of the skull, tufting of the finger tips, dysgraphia, sacral dimple, frequent loose bowel movements, bed wetting, constipation, choking, getting up all night, ballooning of the aorta, pneumonia, and AFO's ect...
And then the calm before the storm. He had two years of no new changes. Everything was staying the same. We were managing what he had going on. The cough even calmed down.
WELCOME TO MYHRE! He was 14.
I was panicked. I was sick. I had intense fear. I read the articles. I joined the support group. I visited the Myhre Clinic at Mass General Hospital. Alec was patient number three. I felt doom. Here we are almost three years later. I still read articles. Our group is bigger.
I wanted to share that Myhre is not what I expected. Since his diagnosis he has been stable. He did get diagnosed with a tethered spinal cord and had the surgery. But other than that he is doing really really well. His health hasn't changed in years. His growth has stopped at 4'7 but everything has developed normally from an endocrinologist view. His vessels haven't changed in years so his angio worked and the bp meds are doing their job. His PFT test looked great too. The only medication he needs for his lungs is symbicort, four puffs a day. That has been the medication for his lungs for years and the cough rarely rears its ugly head.
Constipation is an issue but not a new one and it’s not worse. Even all the testing they did for that really doesn't show anything that needs intervention.
Having Alec has been a surprise gift. Alec brings sunshine to my day every day. I love watching him and I have peace come over me as I watch him. He amazes me. He has come so far. He is a fighter. He is so strong. I have been told I light up when I talk about him. He really is my little buddy. Myhre is heart wrenching to go through but there is a lot to be thankful for and enjoy the walk down the path. They are so special.