Growing Up With Lipodystrophy: When a Lack of Body Fat Is Not a Good Thing

My sweet Alani was born in January of 2014. She is the baby out of five children, and the only child born with an incurable rare disease.

Just over 5 pounds, she was so small and frail, but so beautiful. She had an awfully large belly, being so new. I noticed she had two hernias in locations that concerned me, but I was assured they would resolve on their own. Her head seemed so abnormally large and I tried to rest on assurance that it was just all part of the birthing process. I mentioned her frail, yet defined appearance and jokingly I was encouraged to be thankful to have a future gymnast on my hands.

Discharge went as planned and I took Alani home. Still, with lingering thoughts about her incredible physique, I decided to use Google. I typed “muscular babies.” Image after image popped up of these babies with legs and arms of a body builder. Captions followed mentioning “dystrophy.” I decided to search further.

Over the course of the next couple of months, life went on as usual. Alani flourished as any infant would, and we watched her grow, different only in appearance from her other siblings. As time went on, I grew more and more concerned about what was going on with her internally as she picked up an overwhelming desire to eat constantly. It was as though she was never getting full. I nursed her to the best of my ability, and immediately had to substitute formula regardless of how long I nursed her. After each bottle feeding she would cry for more until she received yet another, and another and another.
In May 2014, we received confirmation from the genetics team at OU Children’s Research Hospital in Oklahoma City Oklahoma that Alani has congenital generalized lipodystrophy (CGL). Her specific mutation type is AGPAT2. This disease occurs in 1 out of 10 million worldwide. There is no cure.

She is unable to store fat properly, as this disease causes any fat she takes in to store into her muscle (vital organs). She is unable to have any foods that contain any fat — trans, saturated, preserved foods or sugars. She cannot have any juices as this diseases causes diabetes with high insulin resistance. She has abnormal muscle stiffness (spasticity), hypertriglyceridemia and an incredible appetite as a result of the disease. She starves daily regardless of how much she takes in. This disease interferes with leptin, which is a fat cell that sends signals to your brain to tell you to stop eating. She does not have this capability, and as a result constantly experiences starvation and screams with hunger pains. Her cries are sudden and unexpected and do not stop until she is fed, which after a very short while she goes into the same episodes of hunger because of another disorder she has, polyphagia. Simply put, a condition which causes excessive eating.

After receiving the results I fell into an immediate state of depression and I refused any reason. Alani’s blood tests revealed extremely high triglycerides and her leptin levels were dangerously low. She is unable to walk or stand for long periods of time due to the lack of fat she has to cushion and comfort her legs and feet. She has heat and cold intolerances forcing indoors to be her primary source of play. A host of other medical complexities have been an extreme compromise in lifestyle, as she is unable to enjoy life as a “normal” child should. She has hypertriglyceridemia, muscular hypertrophy, fatty liver disease, etc. She weighs 24 pounds and wears clothing fit for a 6 to 9-month-old. She is nonverbal and restricted to a mere 525 calories a day. No simple sugars such as cakes, cookies pies or ice cream are allowed. Her diet consists of only the freshest fruits, vegetables and meat, and 1 percent milk and water. She has never been able to enjoy life outside of these restrictions, which is heartbreaking.

It is vital to pay close attention to red flags with this disease as anything can be life threatening. This disease has many faces and attacks vital organs without warning, ultimately destroying them.

Alani is currently on a hormone therapy that requires daily injections for the rest of her life. This medication is called Myalept. It is a struggle for us having to hold her down every single day as she fights and cries, fearful of each needle stick. She is all muscle, so it is near impossible to get not only a good location for the injection site, but also to hold her still enough to safely administer.

People often ask about our life goals and expectations. Well, I expect her to be a World Class Olympian, Gold Medal Gymnast, and President of the World. I expect what any mother would of her child. Only the best. But all I have is hope. Hope that she’ll beat the odds against her. Hope that we’ll beat lipodystrophy together.

For those going through a similar journey, don’t give up. Trust your intuition and do your own research.

Fight a good fight.

A version of this post originally appeared here in the Rare Daily