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.  I stared at her for hours and dreamed of what would become of her.  Her first steps, first words, oh those terrible two’s.  Yet she looked so different, I just couldn’t place the feeling of uncertainty.

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.

Anxiety crowded my thoughts so before we knew it, it was time for our first shots.  At our 3-month appointment, I sat holding Alani thinking to myself how was I going to tell her Pediatrician that I was refusing immunizations. She had a cold so I could use that but it was the only stance I knew to take, the only way I could be heard. It was my protest, my time.  So I immediately blurted out that we would be refusing shots.  Shocked, her pediatrician turned to me and asked what was wrong because she didn’t have a fever so shots would be safe….so I told him.  I told him everything.  He asked what I wanted to do, I told him I wanted to go to the hospital so he immediately admitted us to OU Children’s in Oklahoma City in April of 2014.  We stayed a total of 3 days presenting with a severe cold and concerns of extreme muscular appearance.  On the 1^st day we were overwhelmed with questions and fascinations as we detailed our concerns to all doctors and nursing staff that came in our room.  The 2^nd day genetics team came in to look at Alani and asked me what I thought she had.  I told them it was some form of a dystrophy but I didn’t know what.  After they examined her they assured they would be back.  Indeed, they came back with medical students and additional staff members which caused me to immediately feel faint.  The genetics team advised that they felt she had a form of Lipodystrophy but without genetic testing they would be unable to tell us exactly what type.  I immediately began sobbing uncontrollably and no one…nothing could console me.  Appointment times and days were set up to begin testing and so life as I knew it would never be the same.

In May 2014, we received confirmation that Alani had 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, research began for her and I began my own research.  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.  Just as an athlete, I conditioned myself to find answers, solutions to a problem that no one could explain.

Countless doctor appointments came and went. She was placed on a very special formula that had to be shipped to us called Enfaport by Enfamil that amazingly enough maintained her triglycerides at safe levels along with the fact that it was her main source of nutrition for the first year of her life as no one knew how to safely feed her. So we were advised against it.  Discouraged I decided to start channeling outside sources for help.  I spent so many sleepless nights networking, requesting information as well as sending her pictures and information to doctors, professors anyone who so much as even heard of her condition or spoke on it.   Shortly thereafter, responses flooded my inbox and our first adventure was to a Lipodystrophy Symposium in Ann Arbor Michigan late that year. This followed by our ground breaking trip to NIH Maryland where I was trained on how to administer Alani’s Myalept/Metreleptin/injections.  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 extend their hands out to us in love and friendship. We are pressing forward with countless ventures spreading awareness for Lipodystrophy through publications, media and appearances to Conferences, Galas, and medical events throughout the United States.  Soon we hope to travel internationally advocating for rare diseases all over the world.

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 to not cause any other uncontrollable endocrine issues. Her insatiable appetite complicates her daily living and life. The inability to never feel a sense of fullness is a fear no mother wants her child.  With no guarantees and no one to mirror we can only have deeply rooted Faith that this will work.  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.

Sincerely,

Rachel Daniels, Mother, Patient Advocate, Oklahoma State Ambassador for NORD,

Board of Directors for Lipodystrophy United

rachel.daniels@rareaction.org

(405)-623-2753 (cell)