Looking for donors to help her little girl, my friend gets an unexpected diagnosis of her own

Christina, a dear friend and mom in our Girl Scout troop, is dealing with a rare disease that she discovered, rather serendipitously, when her 5-year-old daughter Sophia needed a new liver.

Friends, family, and doctors were searching for a live donor for Sophia. “Why don’t you give part of your liver to your daughter,” the liver specialist asked, knowing blood relatives are good candidates for a match. Christina hesitated and explained her frustration with an unknown condition that had been making her so ill for years. Not only would she worry if this undiagnosed illness be passed to her daughter, her condition left her with little strength for surgery; both she feared would make her a poor choice as a donor.

As Christina described her symptoms, the very intuitive liver transplant doctor at our children’s hospital referred her to a colleague working on a rare disease called amyloidosis. The colleague was running a clinical trial for a new medication designed to stop progression of the condition. This coincidental chat gave way to the realization that my friends’ symptoms matched those for amyloidosis.

Christina had suffered with no idea what was causing her symptoms. Who would guess her daughter’s seemingly unrelated illness would bring her to a doctor who knew someone who could provide a medical diagnosis? It also might explain all the symptoms that her Dad suffered, and why he died early from heart disease due to unknown causes. Yes, amyloidosis can be genetic as well as a secondary complication from other conditions.

Bad proteins 

Amyloidosis occurs when the body makes and deposits insoluble forms of misaggregated proteins. Accumulations of these “bad proteins” tend to degrade and attack the major organs, starting with the heart. Though rare and severe, there are doctors and a community for the over 30 forms of amyloidosis who understand this condition. Reducing salt intake can slow disease progression if the heart or kidneys are affected,

There are also novel treatments. Last year, the US Food and Drug Administration approved a first-ever therapeutic based on RNA interference (RNAi). RNAi work on the nematode C. elegans, which earned scientists Andrew Fire and Craig Mello a Nobel Prize in 2006, has now turned into a promising clinical experiment. The amyloidosis therapy delivers small interfering RNAs (siRNAs) to the liver, which silence the pathway generating the mutated proteins. Reducing the abnormal amyloid deposits can reduce the damage to the heart and other vital organs.

This has given my friend hope. Even if her disease had progressed somewhat, she has a plan to try to live healthier and long enough to help all her children.  “Living better through chemistry” is not just a wonderful slogan but truly means wonderful breakthroughs in medical care!

Learning to cope with a rare disease

I recently visited Christina and her family and was thrilled to watch five-year-old Sophia improving so splendidly. She is a medical miracle herself—a two-time recipient of life-saving liver transplants at age 4. As I watched little Sophia play house, I knew that she was learning from watching her mom. While leafing through the medical pamphlets about amyloidosis, and nutrition guidelines, Sophia made me a plate of Play-doh pieces and plastic vegetables from her play kitchen. I gobbled them up silly-style. Cookies with no calories! Yeah!

It was pure joy to see her healing, her whole future ahead of her.

For Christina, playing house was clearly taking a severe physical toll. She wants to be a strong, active mom and the working nurse that she was trained to be. For now, she is learning to re-work her diet to help her gain and maintain her weight. She place a big plate of cookies and goodies in front of me as we discussed nutrition, and whereas I was thinking about the cookies having extra carbs I doubted I needed, I was thankful for her hospitality and the nutrition choices that give us all the needed strength to carry out our daily tasks. My friend hopes to keep this illness at bay and rebuild her muscles, especially her heart muscle. 

I returned my plate of Play-Doh foods to Sophia and was so grateful to see her dancing and playing like an extra-spunky 5-year-old should, with a smile brighter than anything, and no decrease in youthful enthusiasm after her liver transplant. I really hope to see her mom doing the same one day, dancing through her day.

There are at least 1,200 rare diseases cataloged on the website of the National Organization for Rare Disorders, but acknowledges there are many more.  Let’s hope that this and other new medications for rare diseases continue to bring families hope.