Amri’s Lymphedema: On a grocery trip, when Amri was 10, she looked down and noticed her left leg was very swollen, but did not hurt. After visiting the pediatrician, we were sent straight to the emergency room- fearing heart failure. We were in the ER at the childrens hospital for 16 hours while they ran test after test. Everything came back fine (her white blood cell count was normal then- the GATA2 hadn’t started getting wacky). Finally, someone came in and said, “Looks like it’s just lymphedema.”

So an appointment was made for the next day and a doctor determined she had idiopathic primary lymphedema- meaning she was born, for no known reason, with a faulty lymphatic system. We weren’t given further explanation- other than the lymph system sits just below your skin, that you have lymph nodes all around the body and lymph fluid that flows in its own vein-like system. And, for some reason, lymph fluid goes down in Amri’s leg, and has a really difficult time coming back up, leading to intense swelling and a “heavy” feeling in her leg.

We did our own research and bought knee high compression garments at the grocery store, and it became the new normal for her to have one whole leg twice the size of the other, with an occasional overflow into her abdomen and right leg.

At some point, I was leaving the dance store right up the street and saw a sign in the neighboring boutique’s window, and learned they had lymphedema garment specialist! It’s a women’s boutique for those with breast cancer (as most lymphedema is secondary, caused when the lymph system is accidentally damaged during cancer surgery). We were able to order medical grade compression garments, and upon asking our general practitioner for the prescription, our GP discovered a Dallas occupational therapist who specializes in lymphedema. Amri’s OT taught us about special wrapping techniques and introduced us to the lymphedema pump- which has been the biggest aid in controlling the swelling.  The pump is like a large stocking that fills with air and forces the fluid to continue circulating. 

She's gone through various stages of daily lymphatic care. We started with off-the shelf knee high compression on just one leg, and we've learned so much as time has gone by. At this point, everyday she wears special medical toe caps on both feet, and over that, a medical compression knee high or an ankle support on the right, and a medical compression thigh high on the left. During school she takes a break for 30 minutes to an hour to use her single leg pump. At home she uses a double leg pump for a full hour, and she sleeps with her left leg inside a custom made thigh high foam garment, with her leg elevated on several pillows. When her leg gets a bit out of control (on a day with lots of standing or walking), she uses the wrapping technique. It’s difficult to walk with her leg wrapped properly, but a day in the wraps brings her leg back to a manageable size.

Untreated lymphedema leads to massive swelling and pain, then to hardened or rotting skin, and then to infection, which can freely travel through the lymphatic system and poison the body. And so few medical professional know much about it, other than what it looks like. In fact, we even encountered a dermatologist who had never even heard of a lymphatic pump and therefore didn’t know he could suggest it to his lymphatic patients. It’s crazy, but we are super thankful to our GP for finding our OT, and the for the garment specialist at the boutique.

We’ve now learned Amri’s lymphedema was caused by GATA2 deficiency, and while a bone marrow transplant will correct her white blood cell count and fix her immune system, it cannot repair her damaged lymph vessels. We have learned that there is a specialist in Dallas that can inject a dye and create a map of an individual’s lymphatic system, and determine if the patient has damaged or missing lymph nodes, or if a lymph vessel has collapsed, then possibly come up with a treatment- such as supporting a lymph vessel by attaching it to a nearby vein. We have no idea what part of Amri’s lymph system is damaged (or missing), but in two or three years, when she is done with all of her transplant appointments, we hope to meet with this specialist and see if he can do anything for her.

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