Tuesday, January 28, 2014

Falling on the wrong side...

 Today's post is about two things: trusting your gut, and using your story to spread awareness. 

Those of you who are brought here because of infertility understand what it's like to fall on the wrong side of statistics.  
Those of you who have been reading for awhile know that not only did infertility put me on the wrong side of statistics, I then, somehow, beat the odds and conceived naturally.
However,  I quickly found myself back on the wrong side. 
From day one I knew. 
For those of you who don't-Hannah was diagnosed with a very rare form of Neonatal Alloimmune Thrombocytopenia-so rare, in fact that there is no published data on a delivery of a baby with this type.  
Thankfully, being on the wrong side wasn't detrimental.  Challenging, yes, a deal breaker-absolutely not.  
Scary-hell yes.  

I have been reading blogs for a long time, but long before blogs, I read Caringbridge sites.  
And the other day I got connected to a new Caringbridge site that just breaks.my.heart. 
Sometimes falling on the wrong side of statistics is detrimental, and in this case, it is.  

I want to introduce you to "Super Teddy" and his family.


"Super Teddy" as he is so affectionately called, suffers from Menkes Disease, or "Kinky Hair Syndrome." 
Menkes is a genetic disease, mainly affecting males, that leads to copper deficiencies.  Ultimately, leading to death.  
In some cases, there is more hope, but unfortunately, "Super Teddy" will not be one of them.

Telling you why leads to my first purpose-to spread awareness.
I knew as soon as my infertility journey began that I would do whatever I could to spread awareness-for a few reasons.
So this issue is not considered taboo.
To educate others on signs, symptoms, and treatments so they can help themselves.
To create sensitivity. 

And spreading awareness is exactly what "Super Teddy's" mommy is doing. 
This is the message that Mary includes whenever you visit his Caringbridge site

Teddy's story is more than just menkes- it's about trusting your gut as a mother, struggling to find strength to live another day, and how friends, family, and even strangers can lift you up in the worst of times. Please share this with everyone you know because Teddy was put on this earth for a reason- and he's not going to leave without making a difference. #FUMenkes

This family is living a nightmare, that is only getting worse.  How she powers on is amazing to me, and she has written several pieces recently on what she imagines moving forward to look like.
Had the professionals been better educated about this rare disease, he would have been able to receive the copper injections at a young enough age to help prevent the irreversible damage.  
But they didn't know.
Which brings me to my next purpose-to trust your gut instinct.  
Mary knew something was wrong, for months she begged doctors, insisted she wasn't crazy.  
She had a gut instinct that couldn't get her to a diagnosis fast enough-but imagine if she had continued to heed the doctors' advice?
Here is a recent journal entry:

 I knew something was wrong, I just did. And I want to share with you how I knew because I think that's an incredibly important part of Teddy's story and a necessary element to bringing as much awareness to this horrible disease as possible. But I really hope that you will read this and remember how rare this disease is- how it really only effects boys- not girls- and even if you do have a boy, the very overwhelming odds are that he is healthy. While many of Teddy's symptoms were very benign at first- and in isolation not all that concerning- it was when we began to look at the bigger picture that things got scary- and they got scary fast.
I guess I should start at the beginning... Teddy was born via c-section shortly after midnight on the 23rd of April. He came out screaming - and wrinkly. Very wrinkly and very dry. The dryness and low weight is part of the disease- but obviously none of this seemed out of the ordinary at the time. What did seem odd was his hair. It was kinky. It kind of looked like someone had taken a blowtorch to the top of his head- very Home Alone. And it's probably worth mentioning that my mother is a labor and delivery nurse with 35+ years of experience and did state how she had never seen hair like that on a baby.  In addition to the kinky hair, he also had an indention on his chest called a pectus (very common for menkes babies- but also present in many healthy kids). But those were really the only things that stood out for the first two months of life. So he had an indent and some weird hair- I just figured it would fall out- or worse case, he would have bad hair. Boys with bad hair can always cut it short.

Up until eight weeks Teddy was a champ- eating, sleeping, gaining weight, and growing like a baby should. Then came his two month check-up. He was almost twelve pounds and "healthy."  It wasn't until the day after his shots that I noticed a difference. He stopped eating. Naps became infrequent. It was literally as if someone flipped a switch. I figured it was the shots and that things would go back to normal in a few more days. They didn't. 

The feeding troubles were just the start of months and months of anguish and frustration.  And when we did get him to eat- he would projectile vomit everything up. I would call the doctors and demand an appointment. They would then explain the difference between spit-up and projectile vomit every time. It was insulting. When the contents of my child's bottle is on my couch across the room- it's not spit up. I'm not dumb. So the doctors would make different suggestions every time I saw them- and I saw them a lot. And every time we would try whatever they suggested- and then some. "Only feed him on one side," "feed him more often with smaller feeds," "try formula,"  "try a sippy cup,"  "put rice in the bottle," "keep him upright for an hour after every feed." And more...

We did everything. Nothing worked- nothing. So then I took things into my own hands. I spoke with the wife of one of Alex's co-workers and friend. His wife gave me several suggestions for specialist- including a feeding specialist and a GI doctor.  I called both and made appointments. I also called an ear, nose, and throat specialist (ENT). I saw the ENT first. Everything was normal in his area. His diagnosis- the problem belonged to GI. Then I saw the GI specialist. He wanted to rule out an immune problem since all signs didn't point to GI. Insert immunologist. His diagnosis- it belonged to GI. Then we saw a feeding specialist. Her diagnosis, a GI problem. All roads led back to GI. 

So Teddy had reflex. That was confirmed (common with the disease). But bigger problems also started to present. Teddy hated tummy time- screamed blood murder. He also started missing milestones. He never pushed up on his arms- or even held his head up while on his stomach.  We later found out he couldn't because of the severe hypotonia, or low muscle tone (also part of the disease). He also wasn't gaining weight- but considering his love of eating- that wasn't a shocker. But then, what he did have, he started to lose. He started losing head control. He couldn't roll on his side. He couldn't keep his thumb in this mouth. Being behind was scary enough- but regressing- that kept me up at night.

We were told he would grow out of it- and catch up eventually. I just knew he wouldn't. My sisters baby is only 6 weeks older and she was sitting up, crawling- Teddy was flat on his back with nowhere to go. So on the morning of 13 November I tried to feed Teddy for two straight hours. I got in almost an ounce. I told Alex I was going to the doctors. When I got there- more great news- he was now losing weight. It was one thing not to be gaining- but losing was so much scarier. I sat in that doctors office and burst into tears. I couldn't take it anymore. I told the doctor- "Please- something is very wrong." So she admitted me to Children's Inova for an "ear infection" ...and you know the rest.

So to sum it up- he had kinky hair, an indent on his chest, reflex, eating problems, low muscle tone, "failure to thrive," and blew off milestones like they didn't ever exist. If you pick just one - its manageable. If you combine them all- for us- it was Menkes. The disease that will steal my precious baby. The disease that changed everything. The disease that needs some serious attention. So please don't look at this as a web.md posting. If your baby misses a milestone- he doesn't have menkes. He he projectile vomits- he isn't lacking the copper transport gene. All I'm saying is that you need to look at the big picture- and if everything looks like Teddy's picture- you need to consider it. At least bring it up so that your doctor can test his copper levels early. And if it is menkes-  start copper injections early enough to make a difference. Early enough for hope. 

I love you to the moon and back Teddy Fish. I won't stop until everyone knows your story. Until we can make a difference. Until we can give every menkes mother some hope.

ps- follow Teddy's story on twitter: Superteddy423

They are planning a run/walk in May in Massachusetts, and I do hope that it's on a Sunday so I can attend!  
Because, we're all in this together.  

Take a look at "Super Teddy's" site so you, too, can start spreading awareness and join in on the fight!  
Because as Mary says, "...even through this disease effects one in a million, that one doesn't deserve it. And that one deserves a fighting chance."

1 comment:

  1. My son died at age 46 two years ago, he had been diagnosed with Menkes and then the diagnoses was withdrawn because he didn't die - his autopsy shows he very definitely had Menkes disease and now his brother who is 36 is also going down hill rapidly. They say Menkes children can't live that long - that patently isn't true and I have a Specialist autopsy done by the Coroners Court of NSW Australia to prove it. My son Kimberley couldn't speak and had all the above symptoms, my son Nicholas can walk and talk and read but is showing marked deterioration rapidly in progress as his body and brain breaks down - so much more research to be done and data needed.


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