I will start with our story, TJ’s story:
TJ was what we lovingly called our “welcome surprise,” but he wasn’t really a surprise. I know, shocking! He was conceived out of what I used to think was a moment of weakness when the mommy gene won, a temporary pull of the goalie so we could get that second child. But I now know he was no lucky shot, rather God’s perfect plan. Tom and I are smart, we don’t screw up in this department, but God, He created the world in seven days, so four days off the pill is no match, He’s God! Two weeks later and we are pregnant. With that, TJ’s story begins.
When it comes to my kids, like many others these days I’m sure, I suddenly leave my Type B personality at the door and try to be a Type A. Try! So naturally, I freaked the F out when I realized TJ had plans to arrive that summer. My thoughts: How can we love any child even close to the way we love Kendall? How can we afford this? I don’t want to be fat again. Will it be a boy or a girl? What will Kendall be like as a big sister? Is Tom gonna help? How can we do this? But as fate would have it, I had nine months to figure all that and much more out. He was a boy. We’d name him Thomas James after his daddy and grandfathers. No one can afford it. Tom will help out, just in his own way. You can love a second child just as much. Fat? Well, you are pregnant. But the best part, Kendall as a sister, that girl was born to be a big sister!
TJ arrived June 19th, 2014, two weeks early. He was what I think must have been the easiest labor and delivery ever. Clearly I had an epidural. After a bit of a slow start on the outside, TJ was considered healthy and we were sent to our room, this new family of four. The next day, however, begins our Menkes story; we just didn’t know it at the time.
That Friday, TJ seemed cold to us. We asked the nurse to take his temperature, which she did. Yep, cold, something crazy like 96 degrees. Let’s try it rectally she says, that’s more accurate. Even colder, yikes! So she suggests we try some formula, he may have low blood sugar. Done! He’s still cold. She brings him to the nursery to warm him under a warming blanket. His temp goes back up. Back to the open crib, cold again, heat lamp, warm again, open crib, cold again, Mommy’s chest, warm again. Discharge. Say what? Can you believe that guy? I was like, okay, so it’s time to go home with my hypothermic baby? But remember, I am Type A mom, oh and Tom said don’t let them push you around. So I say let’s give him an hour in the open crib again, just to see. His temp dropped again. But they say it’s not too low, so discharge. Really, these guys went to med school? I say no, let’s give it another hour. The temp drops further, shocking, right!? Time for the NICU.
The difficult part here was that Tom had gone home to get Kendall ready for the big reveal and I was alone at the hospital to hand my newborn over to some strangers in scrubs; to compound the nightmare, I am still discharged and can’t see my baby for two hours! Cry, cry, cry!!!! In comes Mom. We wait.
For those of you who have been lucky enough never to walk in a NICU, I’ll keep the secret scary details behind those doors, as Tom likes to say, some things you just can’t unsee. For Mom and me, this was our first time…we boldly made our way over to our perfect little angel sleeping under a warming lamp. He’s hooked to a billion monitors and has an IV of antibiotics dripping into his perfect little body. His nurse, Gwen, is feeding the tiniest baby I have ever seen, while monitoring scary beeps coming from an incubator, and watching over our TJ. She kindly, in a way only NICU nurses can do, gets us rocking chairs and helps me nurse our little guy. She says, don’t worry, you’re baby is healthy; he’ll be going home in a few days. Not the case. We wound up spending the next ten days in the NICU, in and out of incubators with a rare case of food poisoning from rice. An unfortunate curveball that launched TJ’s doctors on the wrong path.
TJ came out of the incubator on day five, only to return on day six after his body temperature dropped and his heart rate got freakishly low as a result. Now the doctors were concerned. Why wouldn’t his temp stabilize? They were sort of convinced that we must have had our dates wrong and he was actually premature, but no, we all know the dates were accurate. So bring on the tests, negative, negative, negative. He’s a healthy boy. But wait, why are they always looking at his hair?
The secret they won’t talk to us about, no, not Menkes, this other horrible genetic disorder that they won’t even name because it’s soooo bad (perspective has since made us realize that though this disease is it’s own breed of tragic, it in no way is close to as bad as we thought). We won’t worry about that they say; it wouldn’t matter anyway at this point. They were wrong, so horribly wrong. Here’s the part where you should know, if I’m Type A, then Tom is Type A+. So he figures out what they are whispering about, puts all their whispers together into a Google search and asks, “Is it Ectoderm Dysplasia?” This disease is characterized by sparse hair, cone shaped teeth and the absence of sweat glands, so people who suffer from this have to live in cold places like Alaska. Well that’s a weird diagnoses because in case no one’s paying attention my child’s hypothermic!!!! But, that does put my mind at ease a bit; clearly these doctors are crazy. He doesn’t have it. A simple tooth X-ray at that time would have confirmed that, and may have saved TJ’s life. But that’s not TJ’s story.
We were finally discharged with a cold baby, who possibly had some disfiguring genetic disorder, but probably not. We made it home in time for the fireworks and made sure our little guy was warm in his footie sleeper and hat on the Fourth of July. I secretly didn’t mind that he had to wear hats because it hurt my feelings and made me sad when everyone commented on his funny hair. I overcompensated by trying to comment first, before the person’s true judgment came out.
The next few weeks were pretty tough. We were nervous parents who treated TJ like a China Doll. He just seemed so fragile, with his delicate pale skin and his tiny little features. Every time I took him to the doctor he registered some freakish number on the thermometer. Convinced that their thermometer didn’t work, I’d bring my own. They would let us go each time saying he’s just one of those weird cases where he’s clinically fine, but has this strange temperature.
Then began the eating problems. I can remember how they started. It would take TJ forever to finish a bottle. Tom would say we need to get a faster nipple and then we’d try and the milk would just spill everywhere. After that, TJ started arching while eating and would look like he was in excruciating pain by the end of a bottle. It got to the point where I would have to take a deep breath as the clock was approaching the next feeding because I was so scared of how it would hurt him and he would react. So, we tried every formula on the market and every bottle. Things would work at first, but inevitably he would be in pain again. We started reflux medicine. He was still in pain. It got so bad; I secretly crushed up a Tums and would put it on his gums before and after each feeding. Oh, and to the person who decided we have to hold our baby upright for twenty minutes after every feeding, you try that! But all of this was to no avail, he still was suffering, and I’m not gonna lie, the types of formula we were now trying and throwing out were getting to be over $100 a can. I was getting desperate and Tom was too. He had read every thread there was on reflux and had created a pretty perfect feeding routine; we just needed one more thing. That thing turned out to be oatmeal. The day we added the oatmeal was the first day in a month that TJ gulped down his bottle in complete peace. We shouldn’t have waited so long!
So here we are, two and a half months down the road with TJ and we still both have our fears. Tom voices his and I try to reassure him that all is fine while secretly agreeing in my mind. But, I wasn’t going to silently suffer any longer. At Kendall’s dentist’s appointment I begged her dentist to please, please, please give him an X-ray so we can rule out Ectoderm Dysplasia, then everything will be all right. Reluctantly, she gave him the X-ray. He had beautiful, perfect teeth. Yay, time to celebrate. Or so we thought.
After telling TJ’s pediatrician the fabulous news, she didn’t celebrate with me. Instead, she said with everything that’s been going on with TJ maybe together all of these quirks, as we had come to call them, added up to something. She wanted us to see a genetic doctor at Children’s. So I tried to make the appointment before I even reached the elevator. They said we can’t get you in until 2015. Come again? We have to wait four months?!!! I decide to carry this burden myself for four months; yes I’m a martyr, no sense in A and A+ freaking out for the next four months. Bad idea! A spot opens a few weeks later and the message on our voicemail, received by an uninformed husband, creates a bit of a fight. But, I digress; this is TJ’s story.
So I go to this appointment with my mom and Tom’s mom. Tom had a busy day of work planned and we weren’t going to learn anything that day anyway, so our moms would provide moral support. We also had decided not to let the genetics people go on some wild goose chase, we would only let them test for things they felt certain he might have. But, secretly, I was freaking out. I called my brother the night before the appointment and said that I am so scared because I know that after tomorrow my life may never be the same again.
Dr. Angle walked in and looked at TJ for less than five minutes. He walked out for two, and walked back in. My life may never be the same again! My life may never be the same again! My life may never be the same again! He said, “We’d like to test TJ for Menkes Syndrome, I know you will just go and Google it, so you should know that it is a terminal, tragic disease.” My life will never be the same again!
I love you little guy! Let your faith be bigger than your fears.
11/6/14
So, I guess you’re probably wondering what happened next. It’s not pretty…
I yelled at my mom to stop asking dumb questions. I yelled at my mother-in-law to stop crying. Then I asked my questions and I got the answers that no mother should ever have to get and that was it. They said we’d have a definitive answer in two months, but preliminary results in a week. Then they sent us to a crowded waiting room to wait to have TJ’s blood drawn.
We sat. Silence. Each of us in our own silence. My phone rings. It’s Tom.
Yes, you guessed it, I yelled at him too. Not my best moment as a wife, but hey, this was my angry period.
Then, I stopped; I walked down an empty hallway. Breathe. I thought: this is happening, you have to do this.
Now, I had a decision to make, I could stay angry and drag my family down, or I could allow the grace of God to carry us through this. He was right there in that empty hallway with me. His hand was outstretched. He let me know that I was going to lead this journey for our family; everyone would look to me to know how to move forward. So I took His hand and I chose to take this walk with the Lord, because really, there is no other choice.
As you come along with my family on this journey, I hope you feel the same grace. TJ will make a change in this world. His life does matter. He deserves us to smile, laugh, and love. He deserves his family to carry him through this in a dignified, graceful way.
I love you little guy! Let your faith be bigger than your fears.
11/7/14
Hospice
When I got home I did what any normal 36 year old mother does next, Dr. Angle knew I’d do it, I googled it.
I read every article and journal and blog and website I could find. Then I read them all again. I searched, I followed every link from every page, I looked up every symptom. I ate, slept, and breathed Menkes for the next several days; and then I knew. I made the phone call.
Alone in my car in the garage, I called Emily, our genetic counselor. I told her this: Emily, I know everything there is to know about this disease. I understand our son’s certain fate if he has Menkes Syndrome. I know, without a doubt, that my job as TJ’s mother is to make sure that our beautiful boy has a quality life. I don’t, however, know what will happen to my ability to make good decisions when you call me next week with whatever news you will have to share. So, I want you to know with certainty that we want to work with Hospice from the first moment you share the news, if that news warrants this decision.
Emily says this is premature. We don’t even have a diagnosis yet. You see, Emily does not have children. She does not understand that I have already booked TJ’s first birthday party, I have picked out his kindergarten teacher, I have put his hockey schedule on my calendar for 2018. So planning for next week, planning for my son’s terminal illness, no Emily, it’s not premature.
There is no cure for Menkes. Copper treatments started in the first few days of life can help some boys, but don’t be mistaken, there is no cure. My new friend Allison Delano can attest to that. Her son John got those early copper injections in time. He is a terrific five year old boy, which in Menkes years is like a fifty year old man. But he is not cured. He is perfect, but he has Menkes and when a little boy has Menkes, he understands suffering in a way we may never know.
For TJ, this is irrelevant anyway. He is 3 ½ months at this point. Way too old for copper treatments to matter. But why Hospice you may ask. Remember who’s holding my hand?
TJ has a body that is failing him, it will never serve him well. He has a beautiful soul; Heaven is where my boy will live his eternal life, free from Menkes’ crippling effects.
So I chose Hospice for our little guy. I chose to help my boy live. I chose quality over quantity, his crib over a hospital bed, I chose to help TJ live everyday to the fullest and then, when it’s time, I will let him go.
I love you little guy! Let your faith be bigger than your fears.