Thursday, May 30, 2013

The Real Deal

Yesterday I got a call from Noah's neurologist saying that his blood work was back. He said it was negative for PMD...

What?!?!

You have got to be kidding. I have spent so much time researching and learning about this disease. Noah seemed like such a textbook connatal PMD kid there was no way in my mind that he could not have it. I was shocked to say the least.

The doctor went on to say how there were a few other options for some other genetic disorders he wanted to test for. But Noah's gene mutation might just be so rare that he has an unknown disorder. Great.

After I got off the phone with the doctor, I immediately went to the PMD FaceBook page. I posted how Noah's test results were negative and I was sad that we still had no answers, even after all this time. I was then emailed by Dr. Grace who is the Director of Diagnostics for Leukodystrophies at duPont Hospital in Delaware. She has done so much research for PMD. She knows what she's talking about! I asked her if she would mind taking a look at Noah's lab report when we are in Indianapolis in a few weeks. She said she would but I could also email her the report and she would be happy to look it over before then.

Awesome!

So this morning I made some calls and was able to have them fax Noah's lab report over to Dr. Grace. I didn't expect her to respond since she had told me she was going to be on vacation. But this afternoon when I got home I had an email back from her already.

Dear Doctor,

Devyn Henderson has asked me to take a look at the report of PLP1 testing for PMD on her son, Noah. I am Director of Diagnostics for Leukodystrophies in our Molecular Diagnostics Laboratory at the Alfred I. duPont Hospital  for Children in Wilmington, DE. We have been doing molecular diagnostics for PMD since the mid-1990s. I have reviewed the report from Baylor. It says that the results do not exclude the diagnosis of PMD and that genetic counseling is recommended. The lab also recommended carrier testing for Noah’s mother at no charge. I think that both genetic counseling and carrier testing are good suggestions.

Our genetic counselor, Sara Ennis, is available to consult with you if you contact her. I have alerted her that you might be contacting her. Her license does not allow her to counsel Devyn, but she can consult with you. If you have a geneticist or genetic counselor you prefer to work with, you may also give that person Sara’s contact information.

Most nucleotide changes in the PLP1 gene found in PMD patients are not found in other families and have not been published, so it is difficult to actually prove that the mutation is disease-causing. The reports can’t say that the mutation is pathogenic when it hasn’t been proven. However, there is sometimes evidence that it is pathogenic. In this case, I have run 4 programs that predict whether or not a mutation is disease causing or damaging. They all suggest that Noah’s change is disease causing or damaging. Also, if Devyn does not have the nucleotide change, it is considered to be further evidence.  But if she does have it, it doesn’t exclude the possibility that it is disease-causing.

Grace M. Hobson, PhD
Director of Diagnostics for Leukodystrophies
Molecular Diagnostics Laboratory
Alfred I. DuPont Hospital for Children

How freaking awesome is that! 

So for the rest of you who don't speak PMD/Neuro talk, I'll translate:
Basically the mutation to Noah's PLP1 gene will be different from any other family's mutation. That is why it is hard to actually prove that this mutation is causing him to have this disease. Dr. Grace ran his results through 4 programs and they have all suggested that Noah's mutation is, in fact, causing him to have PMD. I am also having my blood tested to see if I have the same mutation. If so, that means I am a carrier. If not, then that is an even bigger indication that this mutation really does cause Noah to have the disease. I hope that makes sense...

Anyway, I am so darn happy right now! I just want everyone to know that we finally have an answer. I never thought I would feel this way about such a devastating diagnosis. I just can't get over this high I am feeling right now. Noah has been such a mystery to everyone except for God for the past 10 months and now we know what we are dealing with. I am so over the moon, joyfully happy right now.

 

Monday, May 20, 2013

Words Can Hurt

I hate the word disease. Pelizaeus-Merzbacher Disease. Ugh. It makes him sound like he has leprosy or herpes or something. Like he's contagious. I know it's just a word, just a label. But it labels my son. I don't like it. I don't want people to hear or see that word, disease, and automatically make up their mind about Noah.

If you look at him right now all you will see is a beautiful, chubby, sweet little baby with a trach. I know when we get his wheelchair and when he gets a little older and it becomes painfully obvious that he is different, people will stare. I know I used to. I still stare, but for different reasons. Now when I see a child in a wheelchair I want to talk to them. To learn who they are. Not turn my back, look the other way, and silently thank God that it's not me.

Well, now it is me. It is my life. It is my son. And it hurts. I hate all the labels. 

Severely developmentally delayed was one we got when Noah was 6 months old. That one hurt me big time. We still didn't know about Noah's PMD and for all I knew he could still "grow out of it" as many doctors had suggested. I was still blissfully unaware of Noah's condition and I hoped and prayed with every ounce I had that one day, 6 months from now, 5 years from now, we would be looking at our healthy, normal child and all of this would seem like a foggy, crazy dream. Severely developmentally delayed was not something I wanted associated with my perfect and beautiful baby.

I also struggle with terms like medically fragile, special needs, or handicapped. I know he is all of those things. But I just hate the labels. People will instantly come up with their own judgments about Noah when they hear those words. I don't like that.

Sometimes I will be out with Oliver somewhere and I will start talking to another parent about our kids. I always mention that I have a baby at home because I don't want Noah to be left out. I say something to the effect of He is at home with his nurse because               And that's where I would have to fill in one of "those words" that I really don't like. But I also want that to be an invitation for the other person to ask about Noah. I love to talk about him. Sometimes they ask, a lot of times they simply say Oh. That is why I hate those labeling words that make Noah seem different, sick, strange. Oh.

It hurts. It sucks. I hate those words.




Thursday, May 16, 2013

A Voice

I am Noah's voice. I speak to doctors, specialists, therapists, nurses, anyone that will listen. I want the very best for both of my children so this is my job. And I love my job.

I tend to get very nervous in the days leading up to a big appointment like Trach Clinic. At Trach Clinic we meet with a large part of his care team. Pulmonology, Speech Therapy, ENT, Dietitian. We go to clinic about every 3 months so this is a really great opportunity to see everyone face-to-face and hammer out the details for Noah's plan of care. I usually come armed with a list of questions, concerns, and ideas to bring to the table. They only know what I tell them so they rely hugely on my information about what Noah is like at home in order to serve us more completely. Our appointment today went really, really great and we got a lot of things accomplished from my list. I'll break it down according to each specialty.

Pulmonology:
Yesterday Noah began a new medication called Colistin. It is in inhaled antibiotic to help decrease the amount of secretions in his lungs. It is not a common script so we had a heck of a time getting it filled, but we got it. Along with that, the doctor increased his dosage of Pulmicort which is an inhaled steroid. We will also be getting a CPT vest. It is a little vibrating jacket that Noah will put on twice a day to help loosen the secretions in his lungs so we can suction them out better. We are also adding another dose of his Robinul medication so he will get that three times per day instead of just twice. Robinul is a medication to help dry up his saliva. The doctor is definitely very interested in Noah's sleep study results so we need to get that scheduled within the next month if we can. He also wants to see Noah for another appointment in about a month to make sure all of his medications are doing what we want them to do.

Dietitian:
Noah weighs in at a hefty 26.9lbs and is 31in long. He's basically a giant. He is off the charts for both weight and height now. He is definitely becoming more proportionate which is wonderful, he's just a big kid all around. We are going to start adding an extra ounce of water with every feeding to make sure he is getting enough water per day. At our next appointment in July, Noah will be 1    OMG I cannot believe it    so we will start him on a blenderized diet and he will switch from his infant formula to a formula called "Compleat" which has all the vitamins and minerals that he needs and is made up of chicken, peas, carrots, and other real stuff.

And now for the most exciting thing of my whole entire life...

Speech Therapy:
I asked if we could try Noah with a speaking valve. A valve goes on the end of his trach just like his HME. He breathes air in through the valve but then he exhales through his mouth and nose. It allows him to make noise but it also has so many other benefits. Because the valve partially normalizes the airway by forcing the air to go out of the mouth he will hopefully be able to start swallowing a little better with it on. It will also help desensitize his airway the more we start to use it. I've done a lot of research because I really wanted to let him try talk or, at the very least, make some noise. His ENT said he had no problem with it so when the speech therapist came in with one I was beyond excited. They had it hooked up to this little meter looking thing and it would show us if he was trying to push too much air out through his trach or if it was going up into his mouth like it's supposed to. They put it on him while he was sleeping which really made him mad but he did so well! They cleared us to use it with him a few times per day for up to 10 minutes. We tried it as soon as we got home. Here is a wonderful video of the most beautiful voice in the world.



I am so proud of my sweet little Noah and I am so ecstatic that we get to use the valve and hear his wonderful singing voice. Once again, thanks for loving on us!




Tuesday, May 14, 2013

First Time

Being a special needs Mommy has so many ups and downs. The ups are higher and the downs are lower. One of my ups happened today. Noah was laying in his bed and I was giving him a delicious tube feeding of mixed berries and coconut milk. I noticed he was moving his arms, hands, and fingers a bunch so I grabbed one of his toys and started shaking it hoping he would even just see it or possibly even touch it.

And he did!

I don't know how much of an accident it was that he was playing with this toy I was jingling right in his face but he was doing it. Noah played with a toy for the first time. Sure, I was holding it right by his hand but he reached and touched it all by himself!

It was such a wonderful moment. Watch it here:

It is moments like this when I really, truly believe that we will get our miracle that we have prayed so hard for since Noah was born. These times when he does things that I thought may never happen. I know he is only touching a toy but for me this is a brand new door that has been opened for my sweet Noah.

Thank you all for reading this blog, for praying for our family, for loving our precious Noah Jack.


Sunday, May 12, 2013

My Mother

My Mom and I are very alike in so many ways. We have the same personality which as a teenager led to many fights between us. Now that I'm an "adult" I realize that I was wrong in those fights roughly 90% of the time. I have my own children that I love so fiercely and now I know what she and my Dad were trying to protect me from. The world is such a devastatingly terrifying place. If I could keep my boys small forever I would. Just to save them the heartache of growing up in this broken place.

My Mother has been my rock since Noah was born. She has helped me emotionally, financially, whatever we need to get through. She is always there for me when I need her. But I know she is hurting, too. After all, she is watching her daughter, only 21-years-old, trying to deal with things that no one should ever have to face. She has watched me cry for my children. She has listened to me when I am on the edge of throwing in the towel. She is looking at me trying to make sense of all of this craziness, and sometimes I just can't. And I know it hurts her. I know she wants to help me. We all feel so powerless in this situation. I can't fix my child's disease and she can't fix her child's broken heart. It sucks.

So today I want to say thank you. Thank you for being here. Thank you for hurting right along with me.

I love you, Mom.

Saturday, May 11, 2013

Match Made In Heaven

I've been thinking a lot lately about how Oliver is so advanced for his age and so gifted in many ways. Oliver has been talking since he was 6 months old and hasn't stopped. He understands things far beyond his years. And he has handled this hard transition way better than expected. I know I am so blessed to have him.

I also get a little sad when I think about how Oliver started walking on his 10 month birthday. Today Noah is 10 months old. I don't really like to focus on things that he can't do because that list is so long and depressing. But sometimes my mind wanders. And I watch videos of Oliver doing such awesome things, reaching milestones that just may never come for Noah. It hurts my heart.

But last night I was thinking about how wonderfully my life has played out. Having my two boys both so completely different from one another. Oliver will always be Noah's protector, his voice, his friend. And in turn, Noah will teach Oliver that being different is okay and that we can overcome our disabilities to live a good life.

I am so proud of my boys. Even though they are still babies, they are both so strong. Noah has had some pretty rough breaks in his short 10 months of life. But even still, he smiles the biggest smile I've ever seen and can light up a room with the sparkle in his eye. Oliver has had to deal with sharing his Mommy's time and attention while also learning things about Noah and his special needs. God really knew what He was doing when He blessed me with these two very special children.

They really are a match made in Heaven.

Friday, May 10, 2013

Hard Times

I've been having a hard time the past week or so. I just feel so blah if you know what I mean. I'm a planner. I think ahead not just to next week but like 5 years from now. That's really hard to do with a special needs child. I don't know what Noah's abilities will be. I know he's not the easiest to travel with but I don't want to leave him out of everything fun that we take Oliver to do. It just makes me sad. I don't have any other word to describe it.

And then I get mad. Not mad at any person, place, or thing. Just mad. Mad at this situation. Mad that I can't fix everything. Mad that Noah is hurting and I can't do anything about it. Just mad. I will never understand why this happened to my child. But I will promise you that, that will be my first question for God when I get to Heaven. Simply, "Why?" Why does our life have to be so much harder? Why does our baby have to suffer? Why do bad things happen to good people? We will never know these answers in all of our days but I still can't help myself from asking. And it sucks that I can't figure it out. People say that special needs children are given to special parents who can handle them. And they tell me that to make me feel better about myself. But I'm just not sure I believe that. I am such a flawed human being and I try to be the best Mother I can but I certainly don't see myself as "special." And if being special gets me a sick baby then I don't want to be special anymore. I just want Noah to be healthy. I don't want him to be sick or hurt or sad. Even if I could just get a small glimpse of the future and see us together as a family. Just to know that we are going to be okay. That our life will eventually even itself out and we will fall into a familiar groove with each other. Right now I feel like we are living day to day, just getting by. Trying to keep our heads above water and survive. I would like to know, really know, that it won't always feel like this.

There was my little rant. But in other Noah News, he had an EEG test yesterday. The test checks for seizure activity in the brain. He had to be hooked up to 23 little wires all over his head. He was not a fan. Then they record for 25 minutes. We watched Franklin to pass the time. Then the last 5 minutes of the test he had to look at a strobe light while it flashed 10 seconds on, 10 seconds off. He actually really liked that part and smiled every time the light came on. He's such a silly kid. The doctor has to read the results and then call us back in for another appointment to talk to him. I don't really think he's having seizures. It's just something they do as a precaution since he is having the muscle spasms. I hope we can just get him on some medication to help with the spasms to relax his muscles and make him more comfortable. Here are some super cute    if I do say so myself    pictures of our EEG adventure.

Robot baby!


Laughing at the strobe light.



Saturday, May 4, 2013

Trach Conference

A few months back I was invited to be apart of a family panel to speak at a tracheostomy and ventilator conference at Dell Children's. The conference was for nurses, respiratory therapists, doctors, hospital staff, anyone really, who wanted to learn more about how to provide the best care for trach patients. Needless to say I jumped all over this opportunity to share our story. I emailed the coordinator about 20 pictures of my sweet Noah and the rest of our family interacting with him. They made a slide show that played during the lunch break at the conference. Noah had the most pictures... go figure!

I arrived at the conference around 2:15 and this thing had been going on all day long. I walked into the back of the auditorium and I was amazed at how many people were there. 100 at least! I was not nervous at all going into this but seeing all those people gave me butterflies. I kept reminding myself that I really do have all the answers. After all, this is my daily life.

After a short break, I headed up to the front of the room to sit with another mom who had her 18-year-old daughter with her. Her daughter has had a trach and vent since she was in a car accident when she was 5-years-old. Hearing some of the things that this amazing young woman said    and yes, she could speak very, very well    brought tears to my eyes. She told the story of when she woke up in the hospital, only 5-years-old, and looked down to see a tube in her neck. She went on to say that she suffered, and still does to this day, from extreme panic attacks thinking that at any moment her ventilator would quit and she would die. She understands that her vent is really the only thing keeping her alive. I cannot even begin to imagine how scary that must be. But this girl was so positive! The doctors told her mom in the beginning that she wouldn't live past 10 years of age but there she was telling us how she graduated from high school last year. It was truly amazing. There was also another mom that joined us via FaceTime since they had just recently moved to North Carolina. Her daughter had started out in the NICU at Dell and is now 4-years-old.

They asked us questions and we basically just went down the row and gave our point of view. Here are the questions and my answers, not the exact answer but pretty much what I said:

What is the biggest difference between the home and the hospital?
          I had a nurse explain it to me like this: I am the hospital. I manage everything. I am the boss. I control supplies, nurses, insurance, appointments, everything. There is no "higher up." There is no one to fall back on if something goes wrong. If we run out of supplies, I have to figure out how to fix it. If Noah gets sick, I make the decisions. Yes, I have nurses who have to follow protocols, procedures, and parameters but ultimately Noah is my child and I am in charge. At home, I know everything. In the hospital, there are many unknowns.

What is something that you would like a home health nurse to know before coming into your home?
         I am still Noah's mother. Noah is still very much a baby and we are still getting to know each other. Sometimes I really do want to change his diaper. His whole life I have had nurses taking care of him so it is hard for boundaries to become a little fuzzy. And I understand that it is the nurses job to do these things for him but sometimes it's okay to step back and let me be his Mommy for just a little while. I will always know what is best for him. You may have been a nurse for 20 years but I have been Noah's mother for his whole life. [Refer to my older post "Bonding" if you would like to hear more about this.]

In our teaching process for trach parents, what are somethings that could be improved?
          Overall, the actual skills that we were taught are fabulous. I wouldn't change anything about that. I felt really prepared upon discharge and I was confident in my abilities. One thing that I wish we would've been told though was how Noah would look coming back from surgery. That experience is something that no can fully prepare their heart for but I wish I would've been able to prepare my mind. It truly is a heart breaking, gut wrenching moment. Seeing your most precious gift in the world laying there limp with a hole in his neck. Swollen from fluids, stitches on his chest, not being able to do anything but stand there and cry. I wish I would've known how terrible and hard that moment was going to be. 

You are taking care of someone else 24/7. How do you take care of yourself?
           I had to learn that it is okay to be sad, to cry, to grieve. I want to tell everyone I meet about my amazing little boy. I want everyone to know our story. I don't want to sound like I am whining about how hard my life is or make it seem like I got the short end of the stick. I put on a smile and talk about Noah's surgeries, his muscles spasms, his sicknesses, his diagnosis, his pain. I tried so hard for so long to think that we were okay, that I was okay. But sometimes you really just need to fall apart. When you are pregnant you imagine your child's life. Growing up, getting married, having babies. But with a child like Noah those things just aren't realistic dreams for him. It is okay to grieve for those things that you will miss out on. It is okay to be sad. But then you get to make new dreams for your special child. You dream of them talking to you, hearing their first word, and maybe someday watching their first shaky steps.