an end and a beginning

By Matt & Allie

The last few months have been very eventful for our family. In December, we welcomed baby girl Laney and she is doing very well. Noah adores his little sister and his favorite thing to do is hold her. On the other hand, Peter is less sure of the baby. The month following Laney's arrival was especially challenging for Peter. He developed intense separation anxiety and an extreme preference for Matt following our brief (30 hour) hospital stay for the birth. This seems to have finally calmed down for the most part, but it still pops up on occasion. Petey has also been aggressive toward the baby a few times, lashing out to scratch her or try to flip her bouncy seat with her in it, so we have to be on high alert all the time. Whether this is out of jealousy, malicious intent or just the result of a child without impulse control who doesn't understand gentle touch is unclear. But it is still a serious concern.

It has also been frustrating when well-meaning people, either implicitly or explicitly, refer to Laney as a blessing we've received because of Petey. Make no mistake, Laney is a tremendous blessing to our family. But we are uncomfortable with the idea that we were blessed with her because of Petey, because that means Petey was the trial to be endured in order to be blessed. Petey is our son--he is not a trial or tribulation to be endured. Rather, he is a blessing in his own right, and even if God did bless us with Laney because of our faithfulness in following His call to adopt, we still do not want to think about either of them that way.

The other significant event recently was finally receiving the results of extensive genetic testing for Peter after 4+ months of waiting. Unfortunately, the results were devastating. Peter has Claes-Jensen Syndrome (or medically speaking, X-Linked Intellectual Disability, Syndromic, Claes-Jensen Type) a genetic defect/mutation of the KDM5C gene that is marked by, among other things, severe intellectual disability (formerly known as "mental retardation"). For context, and while there are many outliers on the spectrum, Downs Syndrome is associated with "mild to moderate" intellectual deficit. Claes-Jensen Syndrome also causes speech impairment, problems with adaptive behavior and aggressive behavior, microcephaly, awkward gait with slowly progressive spastic paraplegia, seizures, and many more minor symptoms such as small stature, high and narrow palate, etc. Given the hitch in Petey's giddy-up, paraplegia is a very possible eventual outcome for him. There are many non-specific symptoms Petey displays that in a vacuum could have meant something or nothing, but looking at them through the lens of Claes-Jensen leaves no doubt as to the accuracy of the diagnosis.

We have no concrete answers for Petey's progression or future because this syndrome is so rarely diagnosed. While the gene mutation may not be rare, the ability to test for it is new, so not many people have been diagnosed as of yet. Previously, children with this condition would just be classified as intellectually disabled. So, there is little to study and little to compare. In fact, in the one study we did find, citings were not for percentages of this particular population, but for specific individuals. This is the first case Petey's geneticist has ever had of Claes-Jensen Syndrome and we are learning as we go, since Petey is a case study himself.

This diagnosis is in many ways an end. An end to hope that Petey will ever be independent in any way. An end to hope that he will progress cognitively in any significant way, and maybe even the hope that he will ever talk. But it is also a beginning. A beginning of reasonable expectations for his future. A beginning of real plans to make sure he will always be taken care of. We have also discovered reservoirs of patience within ourselves that we never knew we had – patience that only God could produce in us.

We've shared before that life with Petey is difficult. There are really two Peteys: Medicated and Unmedicated. Sweet Pete and the Tasmanian devil. When Petey is medicated during the day, he is usually as sweet and docile as can be. But when his meds wear off in the late afternoon, watch out! It's sad, but so many days we find ourselves just living for 6 pm so we can start his bedtime routine because there are just so many things that are on hold until Petey is in bed.

While Petey spends much of his time either in his own little world or rampaging, he has rare moments of clarity when it seems his cloud of confusion lifts and we see the real Petey that is lost in there due to the ugliness of Claes-Jensen Syndrome and its effects on his mind. For example, one morning recently, he sat on Allie's lap while she read him “If You Give a Mouse a Cookie.” He was interested in the pictures, turned all the pages when prompted, and even did the signs for words and concepts he knows, like eat, drink and wash. Another morning, he colored with Allie and scribbled with five different color markers before losing focus, which is absolutely amazing considering his minuscule attention span. And one morning this week, he was watching Allie change Laney. She asked him to get an outfit and he opened the correct drawer and brought pajamas. Then she asked him to put the other outfit in the laundry basket in the closet. He opened the closet door, placed the outfit in the basket, and closed the door. While Petey's future looks grim (at five years of age, he seems to have plateaued in the 18 months to 2 year range developmentally), we remember the phrase “But God.” With God, all things are possible.

There is also one more end here: the end of this blog. It has been a great means of sharing our journey with you and we hope we've been transparent about the good and bad times. We will leave the blog up in hopes that it may help others considering this journey, as many other blogs helped us. But now that we have a diagnosis and a clearer picture of the future, we feel that it is important to make this our last post.

As we said before, this news was devastating and we are grieving, and the grief washes over us in waves after periods of peace. Thank you for following our journey. Thank you for laughing, crying and praying with us. We appreciate your prayers now more than ever.

Thank you,

Matt and Allie