Since our son Noah’s birth, he has continuously been sick with different viral infections and suffered many ear infections resulting in several rounds of antibiotics.
In January 2012, Noah had his tonsils and adenoids removed as well as tube placement in both ears. At the time, Noah’s lymph nodes on both sides of his neck were pronounced, but we were assured is was a result of packed fluid due to his ear infections and would eventually subside.
A month later, the nodes became larger. We had several appointments with his pediatricians who began to get concerned after Noah did not respond to three different antibiotics to resolve the issue.
In mid-February, Noah’s pediatricians sent him for blood work to rule out leukemia. On Noah’s 2nd birthday, February 16th, he was sent for more blood and we were told to meet with hematology/oncology the very next morning, as leukemia was still not ruled out.
Noah’s birthday was filled with various tests and non-stop blood work. We found ourselves, from 8am to 6pm, experiencing a fight of the unknown, worry and fear. The doctors sent us home to celebrate his birthday, with the mindset that we were dealing with lymphoma and would need a surgical biopsy the following Monday.
The initial biopsy results led doctors in the direction of looking into (Autoimmune Lymphoproliferative Syndrome) ALPS . At this point HIV, lymphoma and leukemia were still not completely ruled out, so his test results were sent to Mayo Clinic.
The week we waited for the test results, seemed to last forever. When the results all came back negative, were sent to see a pulmonologist due to the amount of nodes surrounding Noah’s chest and left lung, which at this point, was collapsed on the far left-side from the pressure of the nodes.
The pulmonologist suspected an immune deficiency and referred us to an infectious disease physician. Of course, there were more and more tests and several weeks later, Noah was diagnosed with a rare bacterial infection known as atypical mycobacterium avium complex with severe lymphadenopathy.
While we waited for Noah’s immune deficiency results from the National Institute of Health (NIH), he was placed on three different anti-microbial antibiotics. Ten grueling weeks and two long hospital stays later, we received confirmation for which we feared; Noah had a complete Il-12 deficiency (Interleukin-12 Deficiency), which means he is unable to produce gamma interferon to protect against certain life-threatening bacteria.
We were informed Noah would ultimately need a bone marrow/stem cell transplant. During his 10 week ordeal, Noah lost a significant amount of weight and became resistant to one of the medications (this infection is very resistant to medications in general). Home healthcare was established, and a PICC line (central venous catheter) was placed for intravenous meds along with the continuance of two additional oral antibiotics.
We eventually switched hospitals and physicians, whereby Noah was given a blood transfusion for severe anemia. We also began interferon therapy. Currently, Noah receives interferon shots three times per week along with several different meds each day. He no longer eats, may pick at his food a little here and there; but, Noah is malnourished and still not responding to meds.
To accommodate his nutritional needs, Noah recently had surgery for a feeding tube which helps in administering the the oral antibiotics. We are told this deficiency causes absorption issues as well.
We will continue the gamma interferon therapy with hope that his immune system will start functioning so he can fight this infection. As it stands, the infection has taken over his neck, chest and abdomen, and the nodes have also managed to push his jawline forward.
Noah is quite the trooper. We have been dealing with all of this since January and things have not gotten better “yet”. He has been through so much. He needs all the prayers, love and support he can get to help him through this.