one request.

I have a friend in the UK, her son also has duchenne.  he's older than finny, so they have a lot more to worry about right now than we do.  she recently wrote that they got some alarming news about his heart, and for those of you that don't know, heart conditions with DMD boys tend to be the reason they don't live as long as they could...  so any mention of a heart condition or problem definitely freaks a DMD parent out.

anyway, im trying to write something encouraging to her, I tell her that shes doing the best that she can for her son and that's all you can do...  and literally, that's ALL you can do.  theres nothing else.  I wanted to write 'itll get better soon,' 'keep up the faith and things will start to look up,' but you cant say any of that to a DMD parent, because things will not get better soon, and they wont start to look up.  in fact, things will only get worse.  as a parent of a child with duchenne, you will watch your child deteriorate right before your eyes and there is NOTHING you can do about it.

this isn't a 'pity me' post.  this is a request.  if youre reading this, you know us or you know someone else with duchenne and you stumbled upon my blog with its hundreds of duchenne related tags.  Either way, im pretty sure you are connected to DMD in some way. 

my request is this:  tell someone today about duchenne.  you can show them this video parent project muscular dystrophy vid or you can send them to my blog, or just tell them that there is a rare fatal disease out there taking the lives of young boys and theres still no cure.  we need more awareness.  we need a cure.

waiting is the worst.

I am the worst when it comes to waiting for things.

like... I like online shopping because, really, who doesn't?  but I absolutely hate waiting for the things to get to me, and I will not even pay double for whatever the heck it is that I want just to get it to me faster...  so, I guess im impatient and cheap.  and I fell like any and all medical testing should be done and reviewed within like two days, waiting for results is THE WORST.

anyway, both the boys had some bloodwork done last week...  they were just doing a CBC on finny, and the drs office called me the next day to let me know that everything was fine.  but ashey was having a celiac test done, a CBC, and a CK...  and we still haven't heard anything about his labs.   im starting to freak out, I know he was having a couple more tests done, but with our history, im really hating that we haven't heard anything yet.  the CK test will tell us if ashey has MD as well, so I really would've appreciated hearing about that one like the same day we had his blood drawn.

we don't think that ashey has it, I would be absolutely shocked if he did, but just knowing that I finally bit the bullet and finally requested it...  I don't like this whole waiting thing.  the confirmation that my ashey boy is good would be fantastical.

come on labcorp...  do a sista right.

a recap: the big day.

so we had our first big appointment last Thursday at the MD clinic at childrens!  woo!  it was a long day, we got there a little after 8 am and didn't get out til about 1 pm...  that is like torture to a 2 year old.

we saw all sorts of specialists: neurology, pulmonology, physiatry, physical therapy, a nutritionist, and a rep for the MDA.  crazy pants.

long story short, everything is pretty good.  I guess hes pretty normal as far as two year olds with DMD go...  one of his hands is a little tight, so we have to try to somehow work on stretching and loosening it.  we have some other stretches we need to do daily to keep his hips, heel cords, and legs loose, but we already started doing that after his appt with physical therapy a couple weeks ago. 

we did learn that sometimes kids with duchenne, have some similarities with autistic children, not that they necessarily have autism, but they are on the autism spectrum...  and we have noticed that lately fink hates any and all shoes that are not his crocs.  as soon as you put tennis shoes on him he immediately says that they hurt and tries to take them off.  we don't normally fight him because it just isn't worth it, but it makes sense that it could possibly be a sensory issue.  we did buy him a new pair of new balance tennis shoes yesterday...  we put a couple different shoes in front of him and he picked these out so were hoping that will help.  we put them on him and of course he fought, but after awhile he chilled out and didn't mention them again for probably 30 minutes or so, but then we let him run around for a bit and he seemed to forget about them again.  so im thinkin it might work out if he starts out wearing them in short increments. 

                                                                  finks new kicks.

we did get some good news though; we were in the process of getting an appt for finny to get new orthotics for his feet/ankles, but after he was checked out last week, they decided that he didn't really need them.  initially I was thinking, yay, we get to try to fight this baby to wear ankle braces and shoes everyday..  a baby that hates things on his feet.  so im very happy that I don't have to torture that little sweet face on the daily.

oh and I learned another interesting little tidbit...  when we got his DMD diagnosis I thought 'oh ok, then I guess the hypotonia makes sense.'  but one of the specialists told me that the hypotonia has nothing to do with his MD.  she said that it more likely has something to do with microcephaly.  weird.

so we go back to the MD clinic November for his next check up, we have another MRI scheduled to check on his microcephaly and make sure everything is going ok with that...  and well see a new neurologist (to follow his microcephaly) within the Childrens Network to keep all of his specialists together.  and we go back to genetics in December to maybe get a bit more testing done to see if we can find any answers about his small sweet head. 

funny little something:
after we had seen two of the specialists and had been there for about two hours, fin was getting super grumpy and restless...  we knew we had some time before the next doc came by so the hubs took him on a little adventure to the coffee/gift shop area.  they came back with a massive lollipop.  but fin is quiet and happy, so im happy.  theres a knock at the door.  a man comes in, introduces himself to us, we say hello as he checks out our sticky mess of a toddler sitting quietly on the floor and tells us that he is the nutritionist.  wade and I look at each other and I say 'of course you are.' 

truths.

so the hubs work switched insurance companies and I feel like ive been on the phone with them almost everyday.  feels like I just got used to the old one and now I have to learn a whole new system.  its kinda funny, im 31 years old, im married with two kids and the thing that has made me really feel like an adult is fighting my insurance company.  ha!  i mean, its not that bad...  i just know that for things that will be extra expensive, i have to call and find out what hoops exactly i need to jump through and when.  we don't want to be stuck with some outrageous bill because i did the steps out of order...  tricksy little insurances...

and keeping my insurance theme going, ive still been trying to get finny on Medicaid.  theres a bunch of different waivers and things you can apply for, some take years to get on, and some are much faster, and by much faster i mean like within a year...  its still the government.  but ive found out which one he needs now.  woohoo!

so anyway, i find the waiver application online and im going through it, filling it out, and i get to that part that is specifically about the person in the household that needs the supplemental medical insurance.  so basically it shows the names of everyone in the house and theres options below each name, 'disabled', and 'not disabled.' 

my first instinct was to click 'not disabled' for everyone in my family...  but then i had to really think about it.  and i know, it should seem totally obvious, my son has a disability, therefore he is disabled.  but it wasn't.  somehow it seemed like lying to say he was disabled.  yeah, he doesn't walk as well as other kids, he falls down a lot, and gets a little more tired than others, but that doesn't make him disabled.  but he is. 

i guess ive never had to actually think or say 'my child is disabled.'  it seems not so bad to say that he has a disability, like its just a part of him, not who he is... 

i did not like clicking that option.

f.u.dmd.

i know.  im lame.

and today, for some reason (couldn't possibly be related to my period being a week late) im really sad.  its duchenne awareness month and that is awesome.  but because the whole dmd family is doing such a great job at posting little blurbs and facts and reminders and super emotional thoughts about dmd, i feel like its been totally in my face lately.  and its not that i try to ignore it, and im definitely not in denial, i just have to operate in a way to keep my feelings in check.  and its been kinda hard to do that these past couple weeks. 

finnys falling a ton and i know ive shared my skepticism in knowing whether hes falling because its normal for a two year old to fall a lot, or if its something more and his decline is already on us...  i can just tell that he doesn't act like a normal toddler.  i didn't really notice it too often before, but we were at the playground the other day and finny willingly took quite a few breaks from playing.  what toddler stops playing, hangs out with mommy for awhile just watching the other kids play?  none that i know of.  i always had to drag ashey away from playtime, and heres his little brother giving himself time outs.  then we were at the store and he insisted on walking himself but he could only take about two steps before he fell, hed get back up and take a couple more and fall again.  i felt like crying right there in the store, but instead i picked him up and told him we were gonna go get the car while daddy and ashey paid for the groceries.  its awful to see your child struggle doing something as normal as walking.  the hubs tries to make me feel better and suggests that maybe his shoes were tripping him up, but just being with him 24/7, i see all the little things that make him just a little different than the other toddlers his age.  and it makes me really sad.

and you want to yell and scream about how unfair it is, but what good would that do?  id just be a crazy woman yelling about something that very few people can understand.  because as awesome and understanding as friends and family are, they have no idea what it feels like to know your child is going to die.  and i know, of course everyone dies, but my kid is gonna die way too young, and hes gonna have a tough time even getting to that point. 

and i knew that this diagnosis was going to change us, i mean, how could it not, but i find myself thinking really jerky thoughts sometimes.  at least i can recognize what im thinking is jerky and crappy so i guess that's good, but i don't like that i have to think twice about something before speaking.  i used to not really question myself too much because ive always been a pretty positive, happy person, but lately i really have to make sure im not about to say something mean.  like when people complain about something super trivial like its the end of the world...  i kinda wanna punch them in their face.  or when people post these inspirational sayings about giving up your cares and worries and they'll be taken care of, sometimes i wanna respond with something like 'obviously your child does not have a rare fatal disease that has no cure'  see what i mean?  i have total bitch thoughts going on through my head sometimes.  and its not all the time, its just been a rough day so blogtown gets to be the receiver of my ranty-ness. 

i hope that eventually ill come to better terms with everything and i wont have these little angry flare ups in my head, but i don't think thatll happen too soon.  i mean, weve only known for four months...  four tiny little months that feel like a lifetime.  its just so... consuming...  you can turn it off and ignore it for a few hours here and there with the help of distractions, but something always comes up that reminds you that its still there, lingering in the back of your mind, just waiting to step out of the shadows right before you fall asleep...

f.u.dmd.

hug your rents.

alright ive been terrible at the updates...

we saw his neurologist last week and it was definitely confirmed that his head has not grown at all in six months...  not good.  but during the appt we focused more on the importance of finny getting in with the MD clinic, so i think he was a little reluctant to do anything without fink having been seen yet...  so after some calls were made by dr. watkin, dr. rosenbaum, and our np, we got in with the nurse practitioner at the clinic. 

our appt at childrens was yesterday.  i had about two pages of questions written down to go over.  and today im a little down...  i guess i shouldve known that i wasnt going to hear anything that was gonna make it all better, but blegh, i dont know.

we went over the make up of his dystrophin gene and his deletion (3-11) and of course i had to ask the terrible question of the correlation of the placement of the deletion and the severity of his disease.  and i guess typically the earlier in the sequence the deletion occurs, the more severe the case is...  but she also said that sometimes there are rare occasions of someone that should have a pretty severe case but only presenting as someone with beckers muscular dystrophy which is the less severe form between the two.  and cases of the opposite happening as well.  so i guess not all hope is lost, and im sure ill get back to feeling the way i did before, it just feels like a blow everytime i find out something i wish i didnt know...  thats a lie, im a knower, i need to know the information, and i hate that about me. 

we also asked about the odds of having another child with md even though im not a carrier, previously i had read all sorts of different, conflicting things.  yesterday they said 15-20% chance.  and normally that doesnt sound like a terribly high chance when its in terms of things like weather.  but i also know that i have been guilty of planning some spectacular outdoor events knowing that there was a 15% chance of rain, assuming that all would be well, but in the end we were all wet.  which makes me a little scared to try again...  but then i think about it, and during those events where everyone ended up wet, didnt we still have a great time getting to that point?  its a really hard decision to make.  not that we wouldnt love another child no matter what kind of issues they had, its just really hard thinking that we have a chance of having and falling in love with another child that we know is going to have a really tough life, and that tough little life isnt very long.  the hubs and i need to think long and hard about this one...

we also touched on his microcephaly...  i think the clinic thinks it would be in his best interest to repeat the MRI to compare to his last results.  and they want this one to be performed at childrens.  so well see about that.  then she asked if anyone has warned us about watching out for signs of intracranial pressure...  um no...  what is that.  she explained that since finnys head isnt growing, but his brain is growing normally, he could develop all this pressure because his brain is getting bigger and has nowhere to go.  i dont know why, but i had never even thought about that.  so now im slightly freaked out.  and i feel a little dumb.  i was thinking that if everything is fine with him mentally and his MRI was fine, then the microcephaly isnt a huge deal, but apparently its a little more dangerous than i thought. 

so yeah, not a great day.  i kinda want to cry.  and im letting myself be sad right now while i write this because its really hard not to be, but once i get up from this computer im gonna slap a smile on this face and play with my kids, because thats what you have to do.  i had no idea how hard being a parent would be, of course i never thought it would be easy, but the smallest act of putting on a happy face for your children while your head is going crazy with one million little thoughts and stresses is really tiring. 

alright... time for happiness.

and go hug your parents.

finky cinky de mayo.

my sweet happy boy is the big t.w.o!  yay!!! 

i think he had a pretty spectacular birthday week...  thats right, we're celebrating 'weeks.'  i figure since he doesnt get the same number of birthdays that everyone else expects/hopes to have, then the only fair thing to do is to extend the celebrations that he does have, hence birthday week.  so we had mini fun days leading up until sunday when we had an actual party for him, yo gabba gabs theme and a moon bounce.  he had a great time.  as did we...  in honor of the littles bday party coinciding with cinco de mayo, we had a little corona and lime action for the adult party goers.  good times had by all. 

 

 

 

we also had his 2 year well check yesterday which was not nearly as fun as the shenanigans on sunday...  of course hes still the cutest thing that anyone had ever seen...  ha!  his height and weight are about on track with where hes always kinda been, about average height, a little under on the weight.  but his poor tiny head has not grown AT ALL in the past six months.  that is crazy, 6 months is a quarter of his little life.  so in about 8 minutes, when they open, ill be calling his neurologist to try to get him back in there asap.  i kinda feel like a jerk because i cancelled his last check up with them, operating under the assumption that we would have seen or would be seeing very soon his new neuro with the muscular dystrophy team.  but since we keep getting appts and then having them cancelled, i have no idea when we'll actually get in with them, so....  we're going back to the o.g.  (original gangsta = dr terry watkin)  i also have to make an appt for him to see a pediatric cardiologist.  another specialist we should be seeing with his new team of drs but since we're playing the waiting game, the nurse practioner at our peds office that we see (jessica hamman, who is absolutely awesome btw) suggested that we just go ahead and make an appt to get his heart checked out, to at the very least give ourselves some peace of mind.  he has a murmur which i think normally they wouldnt worry too much about but with his muscular dystrophy we just wanna get it checked out to make sure everythings ok.  so we will see...  

not a carrier.

rememeber when i said that we were gonna have a month free of doctors visits, well i definitely lied. 

last week the big boy had some kinda stomach thing and vomitted for 48 hours with a fever.  then blood in the vom, so i had to take him in. not fun.  then sunday night the little one refused to sleep...  at all.  the second we layed him down, he immediately started to scream so i kinda thought ear infection.  yesterday he had a pretty high fever, so i took him in and, da da da daaaa  mom of the year right here...  ear infection.  hes on antibiotics.

BUT.  we got some really great news yesterday too!  the genetics lab called and i am not a carrier!  woohoo!  that means that it would be really unlikely that ashey has md.  and that we could possibly visit the idea of more children...  although there is still a 15% chance we could have another son with md.  well talk more about all that when we got to his appt with the mda clinic in may. 

as much as im happy that im not a carrier and all that that means, its kinda sad too...  my poor kid has a weird genetic mutation that came outta nowhere, unfair.  not that its fair that anyone ever has to have this diagnosis, but for his genes to just go rogue and do what they want.  not cool genes, not cool. 

http://mda.org/newborn-screening

so any of you new moms, soon to be moms, or even parents that want to be in the know...  check out the link above to learn a little bit more about trying to get neuromuscular diseases on the newborn screening checklist.  your baby could have it even if no one in your family has ever had it before.  not that its something you want to worry about, but in terms of treatments...  you never know, it might be better to know earlier one day.  progress is being made on a daily basis.

smarty pants.

it finally happened!

we actually had an appointment with a specialist and came back with a totally normal diagnosis!  woohoo!  ha ha!

we had our visit with the pediatric developmentalist yesterday at childrens...  i made the appt awhile ago, before the big diagnosis was made.  i thought i was gonna be able to cancel it because i was thinking that now we know that he has muscular dystrophy, it kinda explains his few delays, but the mda clinic wanted us to keep the appt and just see how it went.

it went fantastically.  it was a team if three drs, one with me and two hanging out observing finny being totally cray.  long story short, they said that hes really smart for his age which is absolutely amazing when two of his 'issues' can sometimes cause intellectual disabilities...  and they said he had a great temprament and seemed like a completely normal toddler.  if they didnt know all of his history, they wouldnt have ever thought that he had any problems.

so finny got to play and chat with some fun drs, made a great impression and we were told that we dont have to see them again!  woohoo!  we have an entire month free of doctors visits!  as im typing this im realizing that i am likely jinxing myself, and my children will most definitely get a flu of some sort next month, forcing us to go to the doctor during our 'free month.' 

 

sweet happy baby playing at childrens.

thinking.

ok, so after my last terribly depressing post, i got some feedback, good feedback, and it got me thinking about some things in a different light.

a friend wrote me after reading my last post, and said that she had a girlfriend that had a baby with a disability that required more attention.  when she had more children after the first, my friend asked her how she came to the decision to have more children knowing that her first would need more help than the others.  her friend answered that while her first was part of her family, she wasnt the center of it.  i thought that was a great way to look at things.  even now, while nothing is really happening yet, i feel like ashe feels neglected.  so i feel like i need to try to remember that saying.  and im taking my big boy on a mommy ashey date tonight.  :)  but, besides reminding me that i need to make a conscious effort to carve out alone time for both boys, it has made me re-visit my original thoughts that we were done having children.

my same friend wrote that she used to be one of two children, and that now she is the only one and wishes she had more siblings.  i feel like this friend is definitely pushing me to have another baby.  :)  or at least making me think about it.

not that were definitely going to go for it, were still waiting on my lab results to see if im a carrier...  and if i am, i guess we may look into adoption, weve thought about it before so its not a huge jump.  its a lot to think about...  i absolutely love my little family more than anything, but at the same time, i dont feel like were done. 

PS:  if you have any fantastic ideas about good mommy son date nights, please forward them along!  currently our plan is dinner and something else that is fun...  ha ha!  specific, right? 

i need my happy back...

so im sitting here watching my kids actin tha fool...  and im wondering how long it will take for us to get back to normal.

everything is still so fresh in our minds; im still making appointments, and all of his specialists are just receiving the news so we're getting all the calls from them, so its almost impossible to not think about it.  and it makes me question everything...  did finny just fall for the 10th time this morning because hes only been walking for a few months, or did he fall because hes already in decline?  is he super cranky just because hes tired, or are his muscles aching because ive let him be too active all day?  is he crying in the middle of the night for me to help him adjust himself because he cant, or because hes just so used to me being there to do it for him?

besides all of the obvious reasons this disease is awful, the constant questioning is the worst.  youre given this diagnosis that is sad and scary and seems almost like your child was given an expiration date and all you can do is sit and wait.  theres no treatment options until they start to decline.  it seems so opposite from everything else in life, normally you would treat a sick person so they dont get worse, and then that treatment would be to prevent death.  muscular dystrophy has no cure. 

i know that there are things being done everyday to help find better treatments and even a cure, so in that way its better that we already know about finny, but since theres absolutely nothing we can do about it right now but think and think and wait, i almost wish we didnt know yet.  that wish is totally selfish and if it came down to it, i would definitely still want to know, its just hard to act like everything is normal, which is exactly what you have to do. 

i guess the things we do know are that we have to watch finny a little more closely so that when he gets tired, we make him rest.  hes not allowed to do any heavy lifting, which shouldnt be a problem for a 1 year old.  and the best exercises for him are aerobic, and swimming, swimming is supposed to be awesome for md patients.  and for myself, i had better get into better shape...  one day finny is going to really need our help, and this chubby mom is not at all confident that she will be able to help in the condition that her body is in. 

ok, now im sad.  so im going to do a little exercise suggested by star bobatoon in her book that im reading, i hate muscular dystrophy.  im going to list 5 things that make me happy.

1:  my great family.
2:  finny hugs & ashey cuddles.
3:  harry potter.
4:  wine & chocolate.
5:  art day with the babies.

feelin a little better now.  so im gonna go start on art day and make some rice krispie treats.  who can be sad when they have a delicious combo of crispy rice and mallows?  no one, thats who.

dmd.

after a full year of questions, doctors visits, physical therapy and whatever else we've gone through with our happy baby, we finally have an answer.  id like to tell you that its something that with a little time and effort, our sweet boy will be fine.  but, unfortunately we were given a diagnosis that is incurable.

my son has duchenne muscular dystrophy.

duchennes is one of the most common and most severe of the different types of muscular dystrophy, but being a common form means that there is always new research and clinical trials being done to not necessarily cure the disease, but at least improve the quality of, and prolong life. 

i think we're still kind of shocked by the news..  its just so much to take in.  hes fine right now and i guess the current plan of action is to go back to the clinic in may where he'll meet with a team of doctors including a physiotherapist that will track where he is in terms of physical development so that we will be able to see where he's progressing and also when he starts to decline.  he'll also see a cardiologist that day to check his heart because your heart is a muscle so it also needs to be monitered.

i also had bloodwork done yesterday to see if im a carrier and the reason finny has dmd, if it turns out that i am, then we will have to get ashey tested just to make sure he doesnt also have it.  i dont think that he does, but we would much rather be sure.

its so weird to even think about...  you get married and have this plan in your head of what your life will be like, and when something comes along to completely change it, it feels like theres a million things to be sad about.  the fact that finnys life wont be normal and we are going to watch him get progressively worse as time goes by is almost unbearable.  no parent should ever have to go through that.  but also knowing that we wont have any more children is something that we have to deal with, and i feel selfish for even being sad about it.  finley will probably never have children.  and i have two awesome boys so i should feel so blessed, but when i pictured our lives before, i always pictured three kids, and of course i was so hoping that our third would be a girl.  theres just so many changes that we need to deal with right now.

sorry this is so rambly and awkardly written...  maybe later i will be able to more eloquently express my feelings, but currently, this i what you get. 

my kid is gonna rock the eff outta some md.

we finally got an aswer to all the craziness that has been going on in my poor happy babys life for the past year...  i cant believe this has all been going on for a year, sometimes it feels like so much longer (even though hes not even 2) and sometimes it feels like its been just a couple months.

wednesday night our geneticist called and said he had finally gotten in all the results of finnys bloodwork.  two different tests confirmed that he has muscular dystrophy.  we're not really sure what type he has yet, so theres a lot of anxiousness in the krade house until tuesday when we have an appointment with the neuromuscular center at childrens in dc.  im really hoping we get an idea of what were dealing with then, because the internet can be a scary place.  and not being absolutely positive that i knew exactly what md was, i definitely did some researching that led to a lot of crying and headaches.  terrible idea.

but due to some awesome words of encouragement from a fantastic group of ladies in a mom group im part of, i changed my attitude some and decided that we are gonna tackle this thing head on.  my kid is awesome, and hes going to continue to be awesome. 

my family is going to participate in a walk to raise funds and awareness of muscular dystrophy.  if youd like to join our team, or donate any amount, please check out fins to the left, our team for finny!

im sure ill have a lot more to say on all of this later, but right now im trying to keep my positive mood going on, so im not gonna get all deep into my thoughts...  but dont be surprised if theres a random midnight post of depression..