Soooo... I have a kid in a stroller and there is no elevator. She's fussy because she's hungry but I can't just hand her a bag of crackers and let her feed herself. I'm pregnant and can't carry the stroller with Emmy up the stairs so she needs to get out and walk up the stairs which is difficult for her to do. I didn't want to say anything to the lady about Emmy's limitations. I knew we'd have to go eat in another area where we weren't able to see the playplace and I couldn't keep an eye on Ava. Ok. We need to eat so up the stairs we go. I get Emmy out of the stroller and hold her under her arms and start trying to get her to lift her feet for each step. She's not happy and starts hitting herself, biting and screaming. Lovely. Now all of the families eating in the loft area have turned their attention to us. We make it to the top and I start feeding Emmy so she calms down. Ava and her pals rush through lunch and head back down to play while Emmy and I stay up in the loft for a while watching and eating. In my head I'm cursing the lady who made us come up here. I'm sure she had no idea what it's like to care for someone who can't do things for herself. The feelings were compounded by the fact that all the kids were having a blast and Emmy couldn't get in there to play. I sat up there stewing for a while. My friend was down by the playplace chatting with the lady who worked there. Later in the parking lot my friend told me the lady had been asking about Emmy. The lady had shared that she had taken custody of a friend's severly autistic adult daughter after her friend had passed away. She was talking about how challenging it can be and wondered about Emmy's situation. It then hit me. I was judging this lady...so certain she had no idea what it would be like to live with Rett Syndrome when in fact she was going home to a very similar situation everyday.
So often I found myself looking at others in the same light. I would see families with their three healthy children and wondered if they knew how lucky they were. They didn't have to watch their children suffer...what a gift. I was sharing my feelings with my mom one day and she said, "Well look at your brother's family. Seeing them now you would never know what they've lived through." This is so very true. They now have three, beautiful, healthy, hilarious sons but it wasn't an easy road.
See, unfortunatly our family has been touched by more than one rare disease. My brother and his wife lost two sons to a rare disease called "Gauchers". It is a genetic disease, like Rett, but it is hereditary. Each child they had, had a 25% chance of having this disease. Since February 29th was rare disease day I wanted to share their story. I have found that when others share their stories with me it gives me such a greater understanding of life and it's challenges. It makes me feel like I'm not alone living in this world of the unknown. And, it always reminds me that we are stronger than we'll ever really know.
Kyle and Bek's Story
When our second son was born, we thought our family was complete. It is hard to remember back to that, to before we were marked, changed. Colleen sometimes asks "Do you still feel it?"... I am never quite sure how to answer, yes, you always feel it...but it changes, spirals, you feel different parts and a distance grows...the feeling changes. It can still knock you down, but the quality is different, you rest in it, digest it again.
When our second child Ezra was 4 months old he started coughing. He was sitting up , and we even got to hear his laugh once but the cough never went away, I was so exhausted and so worried, I must have gone to our doctor 5 times in 5 weeks, they finally basically told me to stop calling. I also noticed a neck retraction which led me to bring him to a chiropracter who at least listened to me and seemed concerned about him. She could see what I was saying when I insisted "something was going on".
By the time he was 8 months old he could no longer sit, the cough and neck retraction where worse...and then suddenly, he stopped baring weight. He just lost his connection to his feet. It was about this time that I saw a picture of him at 6 months...He was clearly bigger than the child I now held in my arms.
We went back to the doctors and I was stunned at the treatment we got: after being told to stop worrying so much, it was a whirlwind of specialists, scales that to my horror showed weight loss. That afternoon I came home with a hole in my chest and my life flooding out all around my feet. I called my family to give the news: we are going to the Children's Hospital in St. Louis tommorrow, they think Ezra has Cerbal Pasley".. my worst fear. A nightmare I could not wake from. Less than 24 hours later a cerbal Palsey diagnosis would seem like an escape, a breeze: "I take it BACK! Please let it be C.P!". Gauchers Type 2 is a rare metabolic disorder, it takes the child back, all the back to before autonomic nervous function...back into the abyss. We held tight to denial, and tight to his little body which was getting littler each day. But we were going to fight we were going to be so good and so pure and so hopeful that God would take this away and our child would live...He only lived to be 11 months old but I feel like we fought wars for decades during those months, driving to specialists, searching for hope. There was no sleep. He could not tolerate outside air (his mammilian diving relex would send him into apnea). He nursed 22 hours of everyday, nestled close in my sling, my body was his morphine drip. When he died in the hospital in our arms, we could still not believe he was even sick.
And how can I explain what follows? Left with one child now the question: do we have more? Do we test? With Gauchers it is probable that we both carry a recessive gene and so...25% chance for a repeat. It was my sister Maria who said "Yes, but that is 75% in your favor!"
Our third son was born 10 months after Ezras death. We had not done any testing. We lived in a cloud of unknowing. On edge. But even though we were on the edge, I was happier than I ever have been in my life before then. Azel showed me how Ezra made me a mother. There was nothing to "get back to" my life wasn't "on hold" while I nurtured this small baby. This IS my life. Now, always NOW. I was able to feel new heights of joy even as we continue to process the grief. A feeling that my heart has been broken open, that I can feel a broader spectrum than I once could.
With our family complete, we were talking about steralization and practiced safe sex. When Azel was two we were visiting my family in Phoenix, walking past the fish in the butchers section I got sick...I got....*sick*.... I knew the feeling well, but I could not believe it...So began 9 months of tears, fear, hope against hope, joy, and terror. The moment Eden was born with a swollen belly I knew, I knew he was not for this earth long. I knew my children would burry another brother, my husband would burry another son...our parents another grandchild, it was so starck. I wanted so badly to hold it forever, to protect my children, my husband, our brothers and sisters and parents. All I could see was rings of grief and our family at the center. I wanted protect everyone from the coming storm forever...but it wasn't long. When he was 3 weeks old we did our PKU test, and he about bled out through his pin prick. Gauchers kids do not produce platletts. We had a diagnosis about 3 weeks later.
Eden only lived for 4 months, and it was like a chance to be with Ezra again, as well as getting to know this new angel. He was the opposite side of Ezra's coin. So calm, so happy, he loved the wind in his face, the sun on his pink brown hair, he slept in a dream between worlds. He seemed to be spared all the pain and agitation Ezra had fought so hard with. We wept deeply, openly. There was nothing to fight, and there was no fight left in us. We just laid down in our bed together. We found a hospice nurse who would come, and she was exactly like our midwife: she came once a month and we talked about what to expect, what to get to be "ready". We put a welcome mat out for death to come and take our precious boy and prayed for grace.
It took almost two years but we did come to the place where we were at unity that another child was knocking on our family's door. We prayed and told each other, and the unborn child, and God that we would have to test. We would have to know. We agreed to one last pregancy. We submitted to a CVS and then an amnio (since our lab work was lost...why not?) finally at about 20 weeks into the pregnancy, we were told the miraculous news: we could expect a child without Gauchers. We could finally tell our families! I was so excited to tell our oldest son Elijah who was so deeply marked by lossing two brothers. He had been crying recently when we saw a baby at the grocery store, or wherever. He would get all teary and just shake his head "it isn't fair"...So when we finally could tell folks, he was the first one we told. He started jumping up and down and cheering. All the sudden he went totally quiet. "I hope this baby doesn't die". Oh sweet heart, we know this baby doesn't have Gauchers. We all just cried together and laughed too. And our hearts heal as Zen grows. I feel like he has been salve for us all.
So after 5 births our home is full, and our family is complete...Five sons, we are a interdimentional group. Three are here and two have gone on ahead of us. I feel like they have gone to college or something: I am glad they are well, but I wish they would call or write once in a while. I miss them.
I told Colleen, I feel like this is the first spring I have really experienced since Ezra was here, 8 years ago. I feel like colors are creeping back into my visual field, like life is real. And yet, I would not change a moment of anything we went through as a family. My soul, my core being has been marked, I have been changed. Our marriage, our parenting, our lives can never be as if we were not touched by Gauchers. I feel like I am on the other side of a Valley. "Do you always feel it?" Yes. You always feel it. But the feelings grow and spiral like a great tree in your heart.
When Colleen told me about Retts, I must admit it rolled off me like water...my waxy armor said "no, certainly not, she must not know what she is saying". It still hits me like cold water. Instantly I got a seat on the other side of the fence and now I am feeling all that they must have felt watching our family: helpless to do anything. The only rope we have is our love for Emmy, Ava, Collen, John and the new peanut! We have also the journey, and the knowledge that the Valley is not endless but only a piece of the journey. We are all along for the ride.