They played outside with bubbles, sidewalk chalk, and rode their scooters. They smelled like dirty, content kids. It felt so good to see Maggie happy, without a care in her little 9 year old world.  I am really going to try to have her friends over monthly. I see how much she thrives on just being with them. It also gives her some much-needed time away from Sam. He has been head banging consistently, dozens of times daily, for about 2 1/2 weeks. He was improving, so we decided to hold off on his protective helmet. It looks like we’ll have to go that route now. He is not sleeping well, either. It seems that is the case when the stimming is much during the day. I have to hold him tightly, and he finally drifts to sleep banging his head back and forth on my chest or shoulder. When we lie him down, either Scott or I have to hold onto him throughout the night. He needs that proprioceptive input, even while sleeping. 

We are learning so much each day about Samuel and his needs. This is also why he head bangs the majority of the time. It helps him ‘feel’ where he is. 

Genetics:

Samuel has Micro duplication 15q11.2q13.1     

It is a rare chromosomal abnormality, and I am so fortunate to have the Dup15 Alliance to help us work through some of Samuel’s issues. I am also able to speak to families around the world, in a private group, about Samuel. These families are so amazing. They come together to raise awareness and funds for research and support for families who have Dup15 children. 

We revisited genetics last week, and Dr. Rodriguez explained that Samuel’s Dup 15 could be De novo (an anomaly in the one particular egg he was formed from) or it could be hereditary, coming from me somewhere on my father’s side of the family. So, Maggie and I had lab work done, and now we wait. 

I felt an immense relief to know what is causing Samuel’s disabilities, but now I am scared to find out in 4-6 weeks if Maggie has the duplication, as well.  Maggie has a small hole in her heart. We found that out during my pregnancy with Samuel. She has an autoimmune condition, migraines, and scoliosis. If she has the dup15 abnormality, hers has manifested physically, but not developmentally, like Samuel’s. If she tests positive for it, then her child bearing years can be affected, as it can be passed onto her children, should she choose to have any. But, for now, we are taking one breath at a time, and as my mama says, we are not ‘going to borrow trouble.’ 

This is so much information to take in, but writing it out helps me to learn. 

As far as how I am feeling lately- I’m exhausted, but I have a beautiful family who is always by my side. I love them more than I could ever say. 

He did really well with us singing to him, but we kept things low key for the most part. I am happy that we decided to not go overboard on his party. It was nice. We even got smiles when we would say the word delicioso. For some reason, he loves the sound of that Spanish word. Lol 

He generally fatigues easily, and he is so tired. I am tired, too. But, I am so very thankful for this life with this boy, who is so special to me. Thank you, Lord for the birth of Samuel. 

The heat pushing through the vents is all I hear. The kids have finally gone to sleep; Scott is getting ready for bed, and I am lying here wishing away the last 2 days. Today, especially, opened my eyes to the true grieving process. I am not sure why in heaven’s name I thought I was ok, after only 3 months of knowing (and not knowing) what challenges lie ahead for Samuel- for us. I remember reading a book one of Sam’s therapists gave us about grieving the loss of “what could have been.”  One of the stages of grief listed was anger. I kept telling Scott that I was not angry. I never got angry about any of this- the struggles, the diagnoses, the appointments, the therapy, the delays. I had a supreme type of sadness, yes. But, anger? Nope.  

My college roomie texted me at midnight, and it dawned on me that the year 2015 will mark our 20th anniversary of being friends. Nearly 20 years ago, she walked into my dorm room and into my life, and she has been my forever friend since that frozen moment in time, Graham dorm room #305.