Written by Kathleen Leatherbury
Hi, I’d like to share my story. In hopes of 2 things. To find help and to hopefully help others. I apologize in advance, as this will be long. I am 49 yrs old. I was born a month overdue. At the time of my birth there was no inducing labor or breaking your water. The only visible feature I had at that time was I had jaundice. As I began to grow, move my muscles, etc. My parents and family noticed problems with me.
- As babies grow, they start to communicate, hold their head up, sit up and move around, and lastly, grow. I was born with dislocated hips and no ball in my left hip socket.
- I had benign congenital hypotonia (BCH) and
- I only produced 1% growth hormone.
The doctors addressed the hip but said I would grow out of the hypotonia and due to medicine causing leukemia, they wouldn’t be able to help my growth. So needless to say, until I was 12, I went along life suffering with things. Once I was 12, I had a doctor that shared with my parents about a synthetic growth hormone and that I would benefit from it. My parents took me to CHOP and I was put on growth hormone.
The growth hormone helped me grow a few inches, but I was taken off of it and left to just be the size I was. I actually grew another inch when I was off of it. As I grew, more problems surfaced due to the BCH. No doctors I’ve seen thought anything of it and again, was left to just be how I am. I have to tell you, having BCH is not easy on the mind. I had a bad attitude with doctors and any educational professionals. They all let me down. Once I started going to the endocrinologist, she told me I had hypopituitarism.
I started experiences episodes of vertigo and saw an ENT that specialized in it and he found I had pituitary stalk interruption syndrome. He said before that diagnosis, my BCH was most likely the cause of my vertigo. Unfortunately, due to all my health issues, I am on disability and still live with my parents. We have moved to a state that has very few experienced doctors. The 3 doctors I do have were hard to find, but wonderful. They have all been as helpful as they can. But with little research for my illness, there are no doctors that can help me. Since they are not able to really help in another specific area, they can’t help me. So again, I’m left to suffer with this.
I want to get back to driving and doing things on my own but without a specialist to help in the area(s) I need, I feel stuck. I do welcome anyone to reach out to me if they can help. But know up front, I am extremely poor. I cannot just hop on a plane to see a doctor I’ve never met. Not to mention, they aren’t always helpful, and I cannot risk that chance. If there’s someone who is a doctor that would like to see me to treat me, it’ll have to be by video call and must take my insurance.
I have social, psychological, learning and sleeping problems. I’m overweight, pre-diabetic. Not by eating junk. I can have a candy bar once a month, maybe once a week sometimes, and it’s like I ate a whole cake. I eat as healthy as I can. I’m allergic to just about everything, including some foods. I get low blood sugar not related to diabetes. It’s genetic from my father. There’s nothing that shows up for that when tested. That’s how my dad has been, and I have been, our whole lives.
I don’t know if all that could be related to the BCH, my pituitary problems, or something else. That’s why I’m sharing. I have 2 sisters that do not have what I have. I am the middle child, but I look the youngest. Looks, maturity, and growth wise, I look like I’m in my late 20’s. I’m not stupid but I’m not smart either. People tend to treat me like I’m handicapped/retarded. I hate those words but that’s their words. Especially after they find out my illnesses.
It’s always a sign of pity, they want to be fragile around me. Anyways, to save more reading, that’s all. If anyone can help me, I appreciate it. And if I am helping anyone reading this, please let me know. If your child has BCH, do not let this go. Get your child checked and do not give up. Thanks for reading.
