Advocating for a child’s diagnosis: Alani’s family story
Fighting for your child’s diagnosis: Alani’s story
By Rachel Daniels · Originally published 2 November 2016
Original article
My sweet Alani was born in January, 2014. 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. There was no diagnosis.
Discharge went as planned and I took Alani home. Still with lingering thoughts about her muscular 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, MRIs, Bone Age, intensive lab work done, and a host of other evaluations. I was told I could no longer nurse her and her formula would change as to deal with the extreme concern about her receiving fat as it was attacking her frail body. 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. In January, 2015 we traveled to NIH Maryland where I was trained on how to administer Alani’s Myalept injections, which is the only known medication available to treat the medical issues that come with having Lipodystrophy.
[Clickability update, October 2026: This is an account of an individual US treatment pathway at that time. Discuss current treatment and access with the child’s specialist. MedlinePlus Genetics provides condition information, not an Australian prescribing decision.]
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.
Rachel Daniels,
Mother, patient advocate, strong fighter.
Clickability editorial update: October 2026
Make your observations usable at an appointment
Write down the changes you have noticed, when they began and the questions you want answered. Bring existing reports so the next clinician can understand what has already been investigated. Ask who will explain results and what to do if symptoms change while you wait. Online information can help you frame a question; it cannot confirm the answer.
Disability support and medical diagnosis are separate conversations. NDIA early childhood guidance explains how to seek help, including early connections. Ask what support is available for the child’s actual needs rather than assuming you must wait for every diagnostic question to be settled.
Listen to the parent while keeping clinical scope clear
Record the family’s observations without treating a suspected diagnosis as established. Explain what your service can assess, when another professional is needed and how referrals or reports will be shared with consent. A parent’s persistence can provide important information; a story from another family is not a diagnostic shortcut.
When discussing practical supports, describe the child’s day-to-day needs and the family’s priorities. Distinguish health treatment from disability support and avoid promising NDIS access because a rare condition has been identified. Use current early childhood information when explaining the support pathway.
Is the medicine described current Australian treatment advice?
No. It is part of an individual historical US account.
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