Alex and Maddy

Alex and Maddy

Saturday, September 27, 2014

Long Overdue Medical Update

We just returned from a week of appointments in Houston. But many of my updates are weeks and/or months old! So I am going to just jump into the medical updates and then finish with another round of incredible pictures by our awesome photographer.

Alex: When Alex was in patient in April to do his fasting challenge, his endocrinologist ran a lab that has to checked between 7 and 8 am in the morning (thus making it difficult to test if not inpatient). It was low enough to warrant further testing. We did some testing and it was also abnormal, but before committing to treatment his doctor wanted to repeat the test one more time. At the end of July, we repeated this test for the second time. I got a call the day before we were leaving for my Mom's telling me that the results were very low and we had to start treatment that day. Alex was officially diagnosed with Adrenal Insufficiency. Basically, Alex's body is not producing any cortisol. Adrenal insufficiency can result in severe abdominal pains, vomiting,  muscle weakness and fatigue, low blood pressure, weight loss, kidney failure, changes in mood and personality, and shock. If you are in an accident, get really sick, have surgery, etc. and your body doesn't produce cortisol it can be really serious. Alex was started on a replacement dose of cortisol daily and I was given a crash course on raising the dose in certain circumstances and given an injectable form for emergencies. So far the medicine has been great. Alex feels good and he did better then ever on vacation this year! As for Houston...the doctors in Houston continue to be really happy with the care Alex is receiving locally at Cook Children's Hospital. We saw pulmonary first this week and while Alex's PFT's (Pulmonary Function tests) are still not normal, they are better. We are happy to see a bump in the right direction! The plan is to keep everything status quo. Next we saw cardiology. Alex has not been having any issues and his echo looked great! Tuesday we saw Dr. Koenig in the morning. We reviewed all of Alex's systems, talked some about his new diagnosis  and she didn't feel the need to make any changes at this point. In the afternoon, we saw Dr. Pacheco who ran a bunch of labs. Wednesday morning, we had an appointment with our endocrinologist who was happy to release us to the care of our local endo who has been so instrumental in the changes over the last year. It was nice to graduate from yet another Houston specialist. Thursday Alex had some testing and a thorough dental cleaning done under anesthesia. other then still trying to recover from the effects of anesthesia, he is doing great.

Maddy: I have avoided writing this update for a long time, because putting it in writing makes it feel "more real". Many of you probably don't even know that we have had any struggles with Maddy medically. In middy's early infancy, there were some things that seemed a little off, but everyone wanted to take a wait and see approach. We were able to do that until the end of May/beginning of June when Maddy was hospitalized for an infection. Just before she was discharged from the hospital the doctors came in and gave me a laundry list of instructions because her neutrophil count was "severely low". (Neutrophils are one of the kinds of white blood cells responsible for fighting bacterial and fungal infections). They let me know that this happens sometimes with infections and follow up with our pediatrician in 2 days and repeat lab work. Everyone's expectation is that it would be better by then. After repeating the lab work, I got a call from our pediatrician very concerned. her count had dropped farther to 147 (normal is over 1500). He let me know that he had called the hematology department and that they would be seeing Maddy the next day. At the hematologists office the count had dropped to 30 which is considered extremely critical. he ran a bunch of specialized lab work and we got the best results possible...a diagnosis of Autoimmune Neutropenia. Basically, her bone marrow makes neutrophils and then her body kills them off. Her counts have stayed at a critical level,  but she is doing really well. We have a strict protocol for if she spikes a fever and we have to be careful around people and vigilant about hand washing. But she has done really well overall. We continue to follow with hematology on a regular basis and will for some time. At Maddy's 9 month check-up, we discussed the fact that Maddy was not rolling either direction, was not attempting to crawl and would not bear weight on her legs. Dr. Benzick referred her for a PT evaluation. Starting on Monday, she will be seeing PT twice a week. The PT also noticed that she has bowing in her lower legs that seems more pronounced then normal. She referred us to an orthopedist to have that looked at. Dr. Koenig and Dr. Pacheco both examined her this week in Houston. Dr. Koenig does not want to jump to a diagnosis of Mito just because of Alex so she wants to look at her separate from our family history. She has ordered a brain MRI which is what she would do with any baby who came into neurology clinic at Maddy's age with significant gross motor delay. We will travel back to Houston when we can get the MRI scheduled and meet with Dr. Koenig again to go over the results and decide on the next step if necessary.

Please pray for my sweet babies and for my Mommy's heart as I so did not want to be in the "medical world" with my baby girl.

Now on to the fun stuff...Before heading to Houston we were blessed to once again attend family camp at Camp John Marc thanks to our awesome therapy facility. This is our second time at camp and it was just as magical as the first time. It is so much fun to have time as a family away from everything and enjoy some cool activities and lots of bonding time. We are so grateful to all the therapists who volunteer their time for camp, especially "our girls" from our clinic who let Alex stay glued to their hips all weekend. I can't wait to get some pictures uploaded from camp!

At the beginning of September we did a photo session with Heather at www.hparkerphotography.com. We have been working with her since Maddy's birth and she continues to amaze me with her talent. She is always able to "capture" the kids personalities in her photos. I can't share them all, because some are a surprise for Christmas, but here are a few of them!









If you made it this far, thanks for checking in and keeping us in prayer!
Ali

Thursday, August 28, 2014

Vacation

Loving our time at the beach with family and friends! Every year we look forward to our visit with Mimi and PopPop. We love to visit NC and see family and friends that we don't get to see other times. We spend lots of time at the beach, swimming in the pool, playing miniature golf and creating memories. It has become such a treasured tradition for Alex and I. This year we have also been able to introduce Maddy to some firsts! One thing I have discovered is that (almost) 10 month olds and much more agreeable photographic subjects then 10 year olds!









I do have some medical updates, but I have chosen to wait till we are home from vacation before I share those.
Ali

Friday, July 25, 2014

Pertussis and Pictures

What a very long month this has been!

Alex started with a nagging cough on June 30th that quickly became pretty bad. By the end of the week he was wheezing and not sounding or looking good. He had no fever and no other symptoms so everyone's first thought was an asthma flare. We saw multiple doctors 6 times before finally being diagnosed with pertussis 10 days later! Alex is vaccinated, however because of his immune deficiency he doesn't hold the titers to his vaccines normally.  Unfortunately, many people now do not believe in vaccinating their children. Alex has paid the price for those choices. We are now almost a month into this ordeal and Alex is still struggling. he coughs to the point of turning red/blue. He cannot catch his breath. He has expressed a fear of dying. We are still doing breathing treatments around the clock. He is using twice his normal amount of Oxygen. He cannot go to TKD because he doesn't feel well enough. It is really sad. All of us were treated with antibiotics so we are not contagious, however, Alex's cough could linger for months.  we are praying he starts to feel better soon!

Miss Maddy Moo is doing well. We are so grateful she did not get the pertussis as I cannot imagine how scary it would be with a baby! Maddy had her 8 month pictures done on July 4th and they are precious! Heather at www.hparkerphotography.com has been so awesome to work with and she did a fabulous job capturing "Maddy"! My plan had been t get a few of the kiddos together, but because Alex wasn't feeling well, he didn't come. So here are Maddy's pics:













Hoping for a GREAT update next month!
Ali