Jessica Johnson.jpg

Jessica J.

Parent

My name is Jessica, and I am the mother of five children, four of whom were born with XLA. Our XLA journey began after the birth of our second child, Andy. From the time he was four months old, he was noticeably different from his sister. While she had only been sick once or twice, Andy was sick constantly. He had ear infections, bronchitis, pneumonia, conjunctivitis, febrile seizures, and crazy irregular lab results. I always called him “our little medical mystery,” not knowing that he actually had something serious going on in his body.

When his little brother Ethan was born two years later, it was more of the same. Ethan was always catching whatever bug was going around, while our daughter remained healthy. 

In 2006, when Andy was almost 3 and Ethan was 9 months, they both caught another virus. Ethan got sick first. He developed a fever of 105 degrees and a bad cough and an ear infection. I brought him to the doctor several times for antibiotics. While the ear infection cleared up, the cough did not, and the fever didn’t go away. He grew listless and irritable, and eventually developed a petechial rash. I took him to the ER and the doctors ran a few tests and determined that he was septic. He was taken by ambulance to another hospital an hour away, and later by helicopter to the University of Minnesota, 3 hours away. There, they determined that he had a condition called HLH, a blood disorder in which white blood cells called histiocytes multiply in order to fight infection, but instead of scaling back after the infection, they continue to multiply and eventually take over several organs. The genetic form is only treatable by chemo and bone marrow transplant. Because babies who present with HLH usually have the genetic form, Ethan began chemo to prep for BMT.

A few days later, Andy came down with all of the exact symptoms that Ethan had, and with very similar test results. He was sent directly to the U of M, and because his HLH had not progressed as far, the doctors were able to see that he had no b-cells. They eventually diagnosed him with XLA and secondary (not genetic) HLH. (Because he was nursing, Ethan had a measurable IgG level, so the diagnosis of XLA was missed.) Ethan’s viral cultures, which take several days to grow, had come back by this time and it was determined that the boys were infected with Adenovirus. This helped Andy start the proper anti-viral medication immediately. He did not start chemo, and instead, began taking massive doses of IVIG. Unfortunately, he had developed double pneumonia, and required ventilation and frequent suctioning. 

By that time, Ethan’s disease had progressed too far. The chemo had also taken its toll on his body and several of his organs were failing. Doctors attempted to perform dialysis, but his body couldn’t handle it. After two weeks in the hospital, Ethan passed away. Andy was in the next bed, on a ventilator, and we didn’t know if he would make it.

Fortunately, Andy began to recover with the help of IVIG, and after 6 days on the ventilator, the tube was removed. After three weeks in the hospital, just days before his third birthday, he was able to come home. He received IVIG infusions for two months before switching over to subcutaneous infusions. His health seemed to be much improved, except for his cough. The viral pneumonia had led to bronchiectasis, so he started chest physiotherapy with the VEST system a few months after his release from the hospital.

Since all that occurred, we’ve had two more boys, both with XLA. They started sub-Q infusions at 6 weeks of age and have been very healthy, except for the occasional eye infection and sinusitis. Obviously, because of the loss of our son, XLA has had a negative impact on our lives. But since the introduction of sub-Q infusions, the other three boys have led very normal and full lives, and we expect that to continue for many years.