For two years, Owen has had a team of doctors trying to figure out exactly what is going on with his immune system and how to treat him. We are finally proceeding to a bone marrow transplant, with a scheduled admission date of September 13, 2018.
Owen's story starts when he was 6 days old (July 2016). Some follow-up lab work was done at his newborn appointment to confirm that his newborn jaundice had been completely cleared. As a part of that lab work, it was noticed that his platelets and white blood cell (WBC) counts were very low. Due to his age we were sent to the Emergency Dept at Children's Healthcare of Atlanta for evaluation. He ended up being hospitalized overnight for observation, and were discharged the following day with an appointment with the hematology team at the Aflac Clinic for Cancer and Blood Disorders. It took several more visits and rounds of testing before they were able to confirm an immune deficiency in December of 2016.
We were then transferred to the care of the BMT Team at the Aflac Clinic, because their fabulous Dr. Shan specializes in genetic immune deficiencies and dis-regulations. Also in December of 2016 Owen was hospitalized for about a week so they could continue to observe him and perform a battery of blood tests to try to confirm an exact diagnosis. After a week they discharged us with a long lists of things he DIDN'T have, and a lot more questions than answers.
We began to see a pediatric immunologist on a regular basis. Dr. Patel prescribes the subcutaneous infusions of IGG replacement that provide Owen with the antibodies that his body is unable to produce himself. This is the main reason Owen has stayed so healthy over the past two years! When a virus does sneak past his defenses it takes a long time for his body to clear it.
Dr Patel also referred us for genetic testing, which confirmed that Owen did not carry any known genetic variations that cause immune deficiencies. From that point when Owen was about a year old, we've been on cruise control waiting to see if his condition improves on its own or develops further. There's been an on-going dialogue regarding a BMT at some point, but we were in the "wait-and-see" phase for a long time.
Most children with immune deficiencies are not diagnosed until they've been hospitalized on multiple occasions with severe infections. We are incredibly grateful for Owen's general pediatrician who was the first one to raise a red flag, insisting that something wasn't quite right, and doing the legwork to refer us to the best doctors in the region. I truly believe God placed her in our lives at that moment to allow us to obtain the best possible medical care for him.
Fast forward to May of 2018. At a follow up appointment with the BMT team, we are advised that they *think* they might have a diagnosis. The data from Owen's genetic testing had been re-analyzed and hit on a newly-described variation that was associated with immune deficiencies, primarily in males. In addition to the genetic component, Owen's clinical symptoms mesh perfectly with the other patients described in the studies. Because the identification of this disease and the genetic variation are so new, there is no standardized testing for it. They are currently working to confirm the diagnosis on a research basis.
The name we were given is "X-Linked Moesin-Associated Immunodeficiency". There is very little information out there on this disease; there have only been a couple dozen clinical cases documented at this time. I'm sure there are many more cases out there, it's just a matter of identification.
Clinically speaking, O's disease is very similar to Wiskott-Aldrich Syndrome (WAS), which is characterized by low platelet counts, eczema, recurrent infections, and low WBC (particularly T Cells). Owen exhibits all of these symptoms, and would likely have seen a lot more severe infections if his IGG replacement wasn't boosting his immunity. Owen's disease is also similar to WAS in that both diseases affect the production of a protein (specifically Moesin or "MSN" in Owen's case) that helps create the cytoskeleton of the T Cells. The working theory (as best as I understand it) is that because the cytoskeleton of the T Cell is compromised they are prematurely destroyed, and those T Cells that remain are not fully functional.
T Cells are responsible for seeking out invaders such as bacteria and viruses, as well as killing off cancerous cells in the body. In addition to recurrent and difficult-to-clear infections, people with a low number of and low-functioning T Cells develop cancers (usually blood cancers) at a much higher rate than healthy people. Up to a third of patients with WAS will develop blood cancer in their lifetime.
All of this information, in conjunction with the fact that his condition has not improved in the past two years, has led us and his doctors to the difficult decision to proceed with a bone marrow transplant. The hope is that the transplant will enable his body to produce healthy cells (T Cells, B Cells, Platelets, everything) to maintain a healthy immune system on its own.
Owen is EXTREMELY fortunate to have found a great match on the National Marrow Donor Registry (we tested his sister Leigh Margaret and unfortunately she was not a candidate to donate). This anonymous hero is a 24 year old male -- that's all we know about him.
He is scheduled for admission to the BMT Unit at CHOA/Egleston on September 13; transplant day is currently Sept 21. This is a tentative timeline as Owen and his donor both have to stay healthy between now and then!
Please continue to lift up Owen and his donor in prayer. Please lift up Leigh Margaret who loves her baby brother so much, and won't be allowed to visit while he is in the hospital. And lift up the entire team at CHOA who will care for him during this difficult time - doctors, nurses, social workers, therapists, etc.
We will continue to post updates through out the process. Some information will be posted on Facebook but I'll try to keep the long, rambling posts (like this one) on Caring Bridge so only the people who are interested have to see it.
Owen’s immune system still isn’t 100%, but starting tomorrow we’re officially off “BMT Protocol” so he’s able to go out in public, eat food from restaurants, and eat all the “forbidden” foods such as fresh berries & deli meats (it’s the little things in life). He has quit wearing masks for walks in the neighborhood and playing outside, but will likely continue to wear them for crowded stores/events.
His kidney function has *almost* returned to normal, and he is crushing his pre-transplant weight. He will begin his catch-up schedule for vaccinations sometimes in the next month or two, which will stretch for a year or more. We are also focusing on catching up on some of the developmental milestones that have been on the back-burner for the last 9+ months; we are seeing gains in his speech and independence, which is very encouraging.
We are finally in the home stretch, and while we will be following up with the BMT clinic for years to come, Owen will become a “regular kid” in pretty much every way. We will always have to be vigilant with keeping an eye out for symptoms of GVHD, and I will probably always over-react to any illness. But day-to-day will be pretty boring, and BORING IS GOOD.
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