Wednesday, December 21, 2011

Christmas Letter 2011

Dear family and friends,

God has been just as good as ever. His mercies are new every morning. He is a faithful and loving Father. But our Great Physician has prescribed some rather bitter-tasting medicine for our family this year. No doubt it has, is, and will be to our benefit and His, but that does not lessen the difficulty of swallowing. Some of you know of our recent struggles. Some of you do not. So, here is our annual family Christmas letter, recapping the last year with highlights of the ups and the downs.

We started 2011 off with a lovely trip to Florida to accompany Chris to a conference for aeronautical/aerospace engineers. Upon returning home, we promptly came down with every nasty bug making its way around Ohio. We were pummeled by waves of illness, on the verge of recovery only to drop like flies once more with something new. The storm eventually subsided in late March.

In February, I took Hosea to our family physician to address some concerns I was having. It had been wonderful to have such a content, easy-going newborn. I even felt blessed to have a “slow” infant with whom I could cuddle more and trust to stay in one place. But by the time he was 7 months old and not even rolling over, I was concerned that something was wrong. The doctor agreed and gave us a referral to see a developmental pediatrician, though she didn’t give me the impression at the time that anything more than a few months of physical therapy was likely to be called for in order to get him “caught up.” The pediatrician, however, saw a different story, and thus the true roller coaster began.

The first suspected diagnosis was Mowat-Wilson Syndrome, a rare, fluke, genetic disorder characterized by moderate to severe mental retardation, limited to non-existent verbal communication, and seizures, just to hit a few highlights. We waited 6 weeks for the test to come back, during which time I had an early miscarriage, just to be told the results were inconclusive. This was followed, a week later, by a geneticist sharing his opinion that Hosea did not have Mowat-Wilson, though his reasoning wasn’t clearly explained to us. We were happy to hear it all the same, and it raised our optimism for a time.

Following up with the pediatrician in early June, it was clear she still felt strongly about her suspicion of Mowat-Wilson. She felt it was too coincidental that we found an abnormality on the very gene sequence (out of thousands upon thousands) that we had targeted, even though it wasn’t the type of abnormality normally associated with MWS. All things being equal, I’d be more inclined to believe a geneticist over a pediatrician when interpreting genetic test results, but I didn’t have any way of countering, and her argument seemed to make sense. Maybe she was right. At any rate, no one was offering any other possibilities. I wanted to know what long-term issues she thought we might be dealing with, regardless of any potential diagnosis. She agreed to give me a guess at his next visit.

The rest of the summer sped by. Chris, Hosea and I flew to Hawaii for yet another aero conference while the girls stayed with grandparents in Tennessee. I was ready to get back to our girls by the end of it, but, oh, how I wish I could have brought the ocean, flora and perfect weather back with me! We celebrated birthdays, and Chris worked hard to finish up his dissertation, which he defended (and passed!) in August.

As school started up again, I tried to keep my spirits up and brace myself for the busy schedule ahead. Hosea had started physical therapy in May, added speech/feeding therapy in July, was scheduled to start occupational therapy in October, and we were always filling in the gaps seeing one doctor or another or having a new test of some sort. Homeschooling became on-the-go schooling, and many a book was read and many a worksheet completed in waiting rooms and doctor’s offices. Throughout this time, Hosea was making progress and even began crawling on his belly, but the gap between his skill level and his age was widening. In late September, he got glasses (and looks oh-so-very cute in them!).

At the 15-month check in October, Hosea’s pediatrician volunteered to send us to Cincinnati for a second opinion with a geneticist. She also ordered a brain MRI and genetic testing for Angelman and Chrisitianson syndromes. And, as promised, she reluctantly told me that she guessed Hosea would test positive for mental retardation once he became old enough to test (at age 5). She wouldn’t, however, speculate as to where in that spectrum he might fall.

A few weeks later, an MRI showed a normally structured brain, and while we waited (and are still waiting, I might add) for the results from the tests for Angelman and Christianson syndromes we met our new geneticist. He, too, shared his concern that Hosea was at risk for testing positive for mental retardation when the time came and that Hosea may have some dependency issues even as an adult. However, the geneticist was doubtful that either the Angelman or Christianson test would come back positive. He also reviewed our test results for Mowat-Wilson and explained to us, to our satisfaction, why the test was, in fact, negative and that we could rule it out. Hosea had more blood drawn, this time to test for Fragile X syndrome, and we waited.

Two weeks later we got a “negative” result on the Fragile X test and the decision was made to do one more blood draw for a panel which tests for 92 different syndromes similar to Fragile X. Unfortunately, I don’t yet have those results to share with you because it takes 4 months to get them back! If the entire panel comes back negative then we are likely going to have to wait for testing to advance and/or for Hosea to develop clearer signs and symptoms as he gets older.

Of course, while the search for a diagnosis and all of the tests, therapies and other appointments have indeed been the picture of much of our year, they do not make a complete picture. The girls are each a year older (now 7, 5 and 3) and a grade higher (Eliana is in 2nd grade, Evangeline is in Kindergarten, and Anastasia enjoys coloring with us at the table). Other events of interest include the addition of “Ph.D” to the end of Chris’s name (Congratulations, love!), Chris beginning a new assignment as an assistant professor at the school from which he just graduated (though the ceremony is not until March), and our family joining a new church. It’s been a year of blood, sweat, tears, and lots of prayer.

When we gave our son the name “Hosea,” we did so because we wanted his name to be a constant reminder to him of God’s faithfulness to His people (among whom we count Hosea) and of the need for him to be faithful to God and to his family, no matter the cost. (If you don’t know why “Hosea” sends this message then we strongly encourage you to read the story of his namesake, found in the Bible in the book of Hosea.) While this message is just as important as ever to our son, we have found it dearly comforting to realize that God placed that name on our hearts to send that very same message to us in the midst of this trial. We pray that you all may also be blessed by this reminder as we celebrate the birth of the Messiah, our faithful God’s perfect, holy gift to wayward sinners. He promised, and He delivered!

His love endures forever,

Jennifer, for the Martins

P.S. Hosea does currently have the general diagnoses of “global developmental delay” (meaning he is developmentally delayed in all categories) and “hypotonia” (meaning he has low muscle tone).

P.P.S. I know many of you have probably never even heard of the syndromes I’ve mentioned in this letter. I hadn’t heard of them either before this year. However, I thought it best not to fill up the Christmas letter with explanations of potential syndromes and their respective symptoms. I’ll leave it to those of you interested in knowing more to look it up on your own or to simply ask us. We’d love to hear from you! :)

1 comment:

Summer said...

What a sweet, sweet little soul! They all look beautiful, and having just seen this for the first time I just want to send love and prayers to you all. His little glasses are so precious and I hope we can see them all someday. Courage, dear heart.