Born in January 2014 was my sweet Alani.
Just over 5 lbs, she was so small and frail, but so beautiful. She had an awfully large belly to be so new and I noticed that 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 about 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 only different 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 no matter 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. Her specific mutation type is AGPAT2. 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 among having other medical issues. She was immediately scheduled to see an Endocrinologist, Cardiologist, Cat Scans, MRI’s, Bone Age, intensive lab work done, you name it.
I was told I could no longer nurse her and her formula would change as to attack the extreme concern with her receiving fat as it was attacking her. I had no idea what this meant but I gained a sudden desire to fight and it has only gotten stronger day by day. I told myself that I was going to fight a good fight and my baby was going to survive. Our first adventure was to a Lipodystrophy Symposium in Ann Arbor, Michigan later that year. This followed by our ground breaking trip to NIH Maryland in January 2015 where I was trained on how to administer Alani’s Myalept/Metreleptin/injections which is the only known medication available to treat the medical issues that come with having Lipodystrophy.
This followed visits and interviews at The Oklahoma State Capital by Rare Disease Advocates as well as doing public speeches raising awareness for Lipodystrophy. Yes, it happened that fast. One minute I had no idea what was going on in the world around me, the next minute I was dragging suit cases and packing my baby in my arms in airports to connecting flights to see doctors from around the world. It has been an incredible start to a journey I know will present us with endless opportunities and I am forever grateful to those who extended their hands out to us in love and friendship.
Alani has CGL and there is no cure. We are told she is a 1 in 10 million medical miracle. The only treatment available is what she receives daily by injection in hopes to replace, stabilize and maintain her levels so as to not cause any other uncontrollable endocrine issues. With no guarantees and no one to mirror we can only have deeply rooted faith that this will work. Our plans are to maintain safe levels and avoid as much endocrine issues as possible. Paying close attention to red flags as anything can be life threatening. This condition has many faces and attacks without warning so it is important to get on the Injections as quickly as possible. People often ask what I expect of her. Well, I expect for 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 such as ours, don’t give up. Trust your intuition and do your own research.
Fight a good fight.
Respectfully,
Rachel Daniels
Mother, Patient Advocate, Strong Fighter
Stay Connected
Sign up for updates straight to your inbox.