Raising my daughter with congenital athymia

Update: Currently at Duke University hospital waiting for thymus transplant. We have been he since November 22nd waiting for a thymus to become available for transplant. They are telling me it could be a couple more weeks or months for a thymus to become available.

In January 2019, my daughter Madelene was born. She was born with an ultra-rare condition called Congenital Athymia. Congenital athymia affects 17 to 24 children out of 4 million. She was born without a thymus which develops T cells. T cells control your immune system. Many of you might have seen the movie Bubble Boy or Everything Everything. Maddie’s condition is more complex than those. The only way to correct her condition is to do a treatment only available in two places in the world, Duke University and London, England. Without a functioning immune system, Maddie’s life is minimal, and the world has to be brought to her as clean and sterile as possible. She has several other health concerns, including pancreatitis (which requires frequent hospitalization), but those can’t be addressed until she has a working immune system.

With Congenital Athymia normal childhood isn’t possible. Being a single parent of a toddler is hard. Being a single parent of a child with Congenital Athymia is extremely rough. (Her mother has chosen a passive role.) Maddie can’t be around other kids, pets, live plants, and other people. As a parent, you have to live a life of isolation and pretty much get trained to be her nurse. My niece was Maddie’s Nanny when she came home from the hospital. Unfortunately –for medical reasons–she can no longer care for Maddie. No other family members meet the criteria and be a caregiver. Attempts to hire an outside caregiver have been futile despite numerous ads and even enlisting an agency to assist. This resulted in my being laid off from my job because I am currently her sole caregiver.

Recently because Maddie’s g tube (feeding tube) changed to a GJ tube, she should be eligible for a private duty nurse. Still, it is extremely difficult to find one, have them submit a plan of care, and wait to see if you can get approved and how many hours she will get approved for. In starting the search, I found that there is a huge shortage of private-duty nurses. The average time to find one is six months to a year if you live in a big city. Bills still have to be paid, and I get between 2 and a half to 6 hours of sleep a night. With Maddie’s constant needs, still trying to figure out a way to work, and without having someone to assist, I cannot find an LPN or RN for nursing. It all falls on me to be a dad, mom, caretaker, nurse, therapist, and so on.

When able to go to Duke for treatment, we must take a medical flight to North Carolina. From there, you stay in Ronald McDonald House until a thymus becomes available. It could be a few weeks or months. After that, you come home and continue isolation and do monthly tests to monitor T-cell production. When T cell production is high enough, we can start to correct her other conditions, and in time will be able to go to school and lead a more normal life. She will get sick more than usual, but at least it won't be fatal. Hopefully, it will happen around the holidays this year so she can start school at a normal age.

Maddie versus kids without congenital athymia. Maddie can't go to daycare because if anyone is sick, she will get it. It will stay with her until she gets her transplant, 12 to 19 doses of different meds at eight other times, a subq injection weekly, and an IV through central line daily; 20 out of 24 hours tube feedings, everything has to come to her and be sterilized first in strict isolation.

Very few people are allowed in the home, can’t be around other kids until her immune system is functional six months to a year minimum after transplant, no pets, plants, or carpet in areas she is in, clothes, toys, floors, mats, laundry, dishes cleaned daily. Autism therapy has to be done by me because would be too many people in the home, and if she gets sick, she will have it for a very long time. Maddie got rhinovirus at eight months old and still has it today and will have it until her immune system is functioning. Over three years with the common cold. Other common illnesses can be fatal.

Everyday tasks have to be altered to accommodate her condition. Grocery shopping can’t happen because no one can watch her, so she must use a service like Instacart to deliver it. Supplies mostly through Amazon and Walmart. Things like haircuts and self-care have to wait until she is in the hospital so they can be done.

This is a lot of information–but is only a fraction of what Maddie has endured and has yet to overcome. If you are able to assist with our fight–it would be very much appreciated.