25 February 2017

Julian's Story

Julian was born in July of 2015. He was tiny, weighing in at 6 pounds, with no subcutaneous fat and gorgeous little muscles covering his body. He had a collapsed lung and fluid in his lungs, so spent a few days in the NICU before coming home with a clean bill of health. We had questioned the lack of subcutaneous fat, but were told he was a few weeks early, so he would put on weight in a few days. In other words, it was nothing to worry about. At our first weight-check at our pediatrician's office, she kept telling us how shocked she was that he had zero subcutaneous fat. She had never seen that before. I felt so much pressure, as I was breastfeeding, to try and make my milk more fatty in hopes to put some fat on him. But 2 weeks later, he still had no fat. We learned that one of his protein levels was elevated, from his newborn screening, so we saw a geneticist about it. She had no explanation for the lack of fat, and the high protein, as he wasn't showing any symptoms related to that. He was a happy baby, calm and so alert.

With no answers, we went home with directions to repeat labs in 2 weeks. We didn't make it that long. At 3 weeks old, we found a red spot in his diaper: he was dehydrated. At our pediatrician's office, they checked his urine for blood, found none, but did find that his sugar levels were 500. When checking his blood sugars, they were 318. We went to the emergency room, but were sent home later that night because he had regulated his own sugars. We had so many questions, and still no answers. Was he diabetic? Why did the sugars regulate on their own? Still, why does he have no fat and so many muscles? The following week, we had his sugar levels checked again, and they were elevated at over 300, so we were admitted to the hospital. Many labs were done to try and find what was going on in his body. We had a wonderful endocrinologist, who had sat us down and told us she thought Julian had one of 3 conditions: Diabetes, Lipodystrophy, and some other one that I can't remember now. I had never heard of lipodystrophy, so didn't think much about it at first. But after testing his triglycerides, which were 3,428, and insulin which was 56, (amongst other various blood tests,) and an abdominal ultrasound with results that showed his liver was enlarged, our endocrinologist and her wonderful team, came to us with the diagnosis of Congenital Generalized Lipodystrophy. Our team had reached out to Dr. Garg at the University of Texas Southwest, to try and confirm the diagnosis via pictures and lab results. He agreed.

Having never have heard about this before, we were handed a 2-page general explanation. In short, our brand-new baby couldn't process fat like the typical body did. Instead of storing it under his skin, it was stored in his blood and liver. In short, my breast milk was literally killing him. I was devastated. We were sent home from the hospital with a prescription formula, made from MCT oil.

The next few months went by as a blur. We started seeing multiple specialists to monitor his kidneys, liver, and endocrine system. What we quickly learned was that being 1 in 10million people to have this disease was not easy. Our doctors had never seen anyone like Julian, and quickly learned they had a lot of research to do. I found myself doing a lot of research online (mainly at lipodystrophyunited.org), talking to Dr. Garg and a nurse at the NIH, and joining the various Facebook groups so that I could learn as much about this rare disorder as a I could. I wanted to be aware so that I could advocate for Julian at all of his appointments, and have the knowledge that we and his doctors needed, when they didn't have it originally.

At 3 months old, Julian was diagnosed with hypertrophic cardiomyopathy. When he was initially diagnosed, our cardiologist looked at us and told us "Your son's heart walls are very thick. He has something called hypertrophic cardiomyopathy. He can die at any time from cardiac arrest, and there's nothing we can do about it." We were devastated. But I refused to accept it. I called Boston Children's Hospital and got an appointment with them for the following week. It was there that we learned that He did have cardiomyopathy, but by looking at his heart, it didn't look like one that would experience sudden cardiac arrest. We learned that having developed cardiomyopathy so young was even more rare than the original 1 in 10 million diagnosis of CGL. Julian is the only person in the U.S. to have developed both conditions at such a young age (as far as we are currently aware.)

It has been a difficult road so far, with many ups and downs. We have finally formed a team of 11 specialists, all of whom we love. But it took time and negative experiences to be happy with our current team. Julian has a hepatologist, nephrologist, 2 dieticians, 3 cardiologists, 2 metabolism specialists, a genetetecist, an endocrinologist. He has routine bloodwork done every 3 months to monitor his essential fatty acid levels, lipid levels, liver and kidney function, and other various things.

Julian is now a very busy and energetic 17 month old. He is very tall, with advanced muscles covering every inch of his body. His belly is distended because of his enlarged liver, kidneys and pancreas (due to high insulin levels and fat in his liver.) His speech is delayed, which may be related to the CGL, but he uses sign language to communicate with us. His arms and legs are "skinny." They have a lot of beautiful muscles, but are small in comparison to his belly. It is very difficult to find clothes that fit him properly. He wears 3T-4T shirts to cover his belly. He needs 6-12 month pants to stay up on his tiny hiney, but his legs are so long, we have to get 2T pants and roll them over to try and get them to stay up. We are constantly puling his pants up throughout the day because they fall down so often!

We maintain healthy TG levels, sugar levels, etc. by way of diet. He is on an extremely strict low fat, no sugar, high protein diet. His carbohydrates consist only of insulin and sugar friendly foods. His fat intake is monitored closely, with most of his intake consisting of medium chain triglycerides.

He is a very happy boy, unless he is hungry. Because of his low Leptin levels, he feels hungry often. We spend each day keeping Julian busy so that he doesn't think of food, because if he gets bored, all he wants to do is eat. There are times when he tells us he is hungry, and we can distract him. There are other times when no distraction in the world works to get his mind off of food. This can happen at any time, sometimes even after he just ate. These "food frenzies" (as I call them) can be awful, with a lot of screaming, crying and "tantrumming." Nothing stops them, but food. He still wakes up at least twice at night to eat as well.

We have learned our future will not be what we have always planned when thinking about having children. Julian won't be able to play in most sports. He will never know what "fast food" tastes like, parties and functions will not be noted for their yummy and different foods that are usually the highlight of the events, he will have more bloodwork done and see more doctors than most families combined do in a lifetime. But our love, faith and hope will get us through each day with smiles.

It is so easy to feel alone in this journey, with no one that you know personally to relate to anything you are going through. My family is so thankful to this lipodystrophy family who has welcomed us with open arms. Lipodystriophy United is not only full of life-saving information, but has wonderful people behind the scenes who welcome all questions and are there to lend as an open ear in times of need.


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