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Jacob's Journey

December 4th, 2001
Jacob was born at 36 weeks weighing 8lbs 7oz, 21 1/4 inches long. Immediately we all knew something was wrong. My doctor was expecting 6lbs. She wasn’t expecting the big baby she delivered.

They whisked him off so fast I don’t even remember seeing him until the next day. I knew he couldn’t breathe. I knew he was in trouble. He wasn’t well. I saw the look on everyone’s faces and remember hearing “Oh my, what a big baby for 36 weeks”. I saw him the next day, I was shocked. He was big, his tongue was sticking out and he just didn’t look like a normal healthy baby.

He had a list of medical issues: pulmonary hypertension, murmur, hypoglycemia, bruises, eye hemorrhage’s, and what they thought at the time was a hernia. After 7 days in the NICU he came home with the rest of our family. It was a struggle to nurse him due to his tongue; we went through numerous bottles until we found one that he could nurse. He ate all the time and grew very fast.

He had regular appointments with his pediatrician. We were told that he was just a big baby and that he was fine. Until it came time to start finger foods and table foods.

He was about 9 months old and we could not get him transitioned to any form of table foods or finger foods. He started losing weight because baby food wasn’t enough. At 10 months old we were referred to the Children’s Hospital where we live for feeding therapy. They began working with his low tone in his face and trying to teach him to put his tongue in his mouth. They said he had a bad habit of sticking his tongue out.

We went through therapy for 1 1/2 years and he finally graduated on some table foods but still had a horrible gag reflex. One day at around age 2 1/2 he began having passing out episodes and the Doctor thought he was having seizures (it ended up being hypoglycemia not seizures). We ended up at a neurologist and back to his cardiologist. We did all the necessary tests to rule out seizures and heart defect. The neurologist asked about his large tongue and how long he had it. I quickly replied he was born with it. He said he was going to do some research and get back with me.

My internal alarm went off and I thought there must be something to this tongue. I went home and typed in “large tongue” and BWS came up. I knew immediately that this is what my baby had. He had the ’look‘ of a BWS baby. I printed off the information and sent it to his pediatrician and asked for him to be tested for this. I was told “he didn’t have it because it was too rare”.

By now he is 3 years old and after much persistence on my part, they agreed to an appointment with a genetic doctor. She looked at him and confirmed just by clinical findings that she expected BWS. She drew bloodwork and sent it off. After several weeks of waiting we got the phone call. He is positive for BWS. At that point I was just relieved to finally know what I was facing, what he was facing. We were going to grab this beast by the horns and win this.

We set up blood work and ultrasounds according to protocol. Thank God during those 3 years he did not have any cancer related issues. Next, I wanted to see what could be done with this tongue. I called all around to see if anyone had ever heard of BWS or knew anything about Tongue Reduction surgery. NO ONE! I emailed Dr. Marsh and sent pictures to see what he thought. He didn’t recommend it because it wasn’t affecting Jacob’s jaw or breathing, and it wasn’t recommended for eating issues. I was devastated.

I placed one more phone call to the Medical College of Virginia’s Crainofacial Unit. I got the nicest lady (Ruth) on the phone. I told her my situation. She was my angel. She said “hold on we actually have a Doctor here that knows about BWS” and set me up with an appointment. It was YOU Dr. Sabry!

Jacob was evaluated by all the specialist there: dental, speech etc. He passed all tests. After speaking with you we were advised that it was up to us to opt for Tongue Reduction, but it wasn’t recommended because it wasn’t affecting his jaw or breathing. You advised us that you couldn’t guarantee it would help his eating issues. You left the choice up to us.

A chance was all I had when I left there. I was sick as to what to do. We talked about it for days and decided to take the chance. He was 3 years old and couldn’t eat table food still. We did it. It was rough, it was scary, but on day 5 after tongue reduction surgery Jacob drank and we went home. Day 7 Jacob ate pancakes for the very first time in his life. He ate pancakes for a month straight!! I didn’t care!

Once he healed we went to intensive outpatient speech therapy for 6 months every day and homework at night. By the end of that Jacob was eating pretty much everything, and it wasn’t pureed!

The surgery was an outstanding success and what a difference it made in his life. He could go to preschool and he did. What a happy boy he was! Now at age 13 he is a healthy 5’7, 112lb competitive swimmer. He has no problems eating. I am the one with the problem now, of keeping the cabinets full. He eats it up faster than I can keep them filled.

Thank you, Dr. Sabry, thank you.

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