IAmA father of a child with Spinal Muscular Atrophy (SMA), also seen in a recent picture pushing her in her chair at an ice rink. AMAA.

Sir I've got nothing to ask, but would like to be the first to say what a great parent you are. I hope and wish you the best.

Thank you very much - and all the best to you and yours well!

I'm sure you noticed a lot of people are caught off guard by disabled persons, especially kids. What is the most courteous way to act when we happen upon kids like Emily? What is the best way we could recover if we are at spaz out at first?

Please forgive us SAP's.

Great question, and sadly many disabled families also don't react very well. We carry business cards around with information about Emily and SMA on them to hand out in these situations. Honestly, sometimes I'm just not ready to talk about it b/c of a bad day, fatigue, something else - so I hand them a card and smile. If they are just standing there open-mouthed and staring I will often say hi and ask them how they are doing or if they have a question. Sometimes they do, sometimes they don't. :)

My wife pointed out that I answered how "we" respond -- that's what wife's are for. :)

So, to answer your question, "what is the best way to act....?" "what is the best way to recover...?" -- Very few people spaz out. The most frequent thing we see is a child incredibly interested and asking questions then their parents whisk them away scolding them for bothering us. We LOVE the inquisitiveness of children. They are accepting of Emily in ways that put adults to shame, and we WANT them to ask questions. I'd err on the side of letting your kids ask and explore. The last thing we want is to scold our kids for using their brains.

If you happen to spaz out, not sure what that would look like, recovering is as simple as being genuinely interested. Maybe they need help opening doors (amazing how often people watch me struggle with doors and never offer or even think to help. Ask what condition is. Smile.

Move to Minnesota. Everyone will fall head over heels to open doors for you everywhere you go.

Hey I am from there, essentially anyway - lived there for a bit and family is from there! Really? Maybe that's why I expect it.

My brother has a pretty severe form of Cerebral palsy, and over the last few years he has had to adjust to eating through a GT tube and a trache. My youngest niece has been the most accepting of him when he visits my in-laws. She has actually fed him before. I love kids.

Awesome anecdote. Thanks for posting!

I'm legally blind and use a cane to help me get around. I have kids come up to me fairly often and start asking questions about the "stick" I am using. I've found most parents to react in the same embarrassed fashion that you've described, in fact they seem to be particularly concerned about offending me since I'm still a teen. Many adults are so worried about making others feel uncomfortable when their kid singles them out, that they simply fail to realise that by whisking their child away, they aren't doing anyone any favors. By teaching kids about disabilities at a young age you are preparing them to be more open minded about disabled people they meet in the future. The more they learn, the kinder they will be in the future. I also like when adults ask me questions. You'd be surprised at how many adults don't know much about blindness and are too afraid to just ask a blind person.

Also, props to you for being a great father! Not all parents of disabled kids are this caring and this really made me smile.

Well said! Thanks for sharing your story too. What happens to us when we grow up anyway? Sheesh.

Thanks for this AMA. I used to nanny for a boy with special needs. I've encountered very sweet inquisitive children, as well as some older ones who will ask things like "what is wrong with him." I was always calm but never knew the best way to respond. What have you done in such a situation?

I explain it. "Well she has really weak muscles and needs some help breathing. Do you ever feel that way?" :) Then they run off in circles and may come back later asking another question. "Well since her muscles are weak it is hard for her to swallow. So we feed her through this little button so she won't start coughing. Do you ever cough on your food?"

Note to parents - why do we tend not to follow our answers with a question? Its the best way to help them lose interest and ask more Why's, but also gives them an opportunity to actually think about it, and understand what you are saying. That's my theory anyway.

Did you mean best way to help them not lose interest?

Yes! A good summarization!

You helped her enjoy some festive ice skating, she helped you not fall on your ass! Great job guys, all the best!

You're the first person to pick up on that! Although it was heavy, it provided a much easier way to skate. ha.

I have a friend with a special needs daughter. When my 6 year old wanted me to ice skate I took my friend's daughter on the ice so I wouldn't fall. She had a fantastic time and now we make weekly trips to skate. She is heavy to push being 9 years old, but her laugh keeps me going. I hope your daughter enjoys skating as much as my friend's daughter. Keep up the good work, what a wonderful family you have.

Thanks. Emily really enjoyed it - and thanks for sharing your experience via your friend.

I have spinal muscular atrophy type 2 and this is exactly what my dad would do for me :)

He is truly my super hero, I wouldn't have come so far in life without the love and strength of my parents.

Kudos to your dad's devotion, and to you for recognizing it! :)

I met Nate and his wife about 15 years ago, before they got married. Even then you could tell there was something special about them both... keep up the good work Nate :)

Wow. Thank you very much, mysterious person. ;)

Check your email whenever you get a chance, I'm sure you'll be let down...

Ha! Not let down at all. HEY!

Really well answered questions here, and I'm amazed by how well you look after Emily. You mention that healthcare providers aren't consistent, are patronizing and don't take appropriate care of Emily - as a future doctor how can I ensure I don't make the same mistakes?

Great question! We are part of a Parent as Faculty program where pre-med students come to our house to learn about our life. Those that take advantage of these opportunities consistently report that it was the most valuable part of their medical education. If that's not available, seek out experiences like this. You will learn FAR more seeing kids like Emily in their normal environment vs only at the worst of times in the PICU.

Also, listen to the parents of disabled children. They have a 6th sense that you will never be able to explain.

Thanks! I'll look into that, I've done a lot about pediatric health recently, but we never get to meet the parents - the one time we did, the father continually mentioned that they had prepared for this so they knew what was coming, so i followed up with "Is it as you "prepared" yourself for?" So my follow up is: Did you know what to expect? And if you did, was it easier or harder than you expected? Also, can you give an example of the sixth sense? (sorry for all the questions, but after studying childhood illness from an outside perspective, it's useful to see how that parents actually experience it, as opposed to what the textbooks say)

We knew what to expect with Emily b/c we had another child with SMA who passed away in 2004. That is not to say, however, that we aren't encountering new challenges every day. It is not harder or easier than expected - I expected it to be what every it became. Expectations are dangerous.

6th sense: Good question. Disabled parents know what they are talking about, even it they feel like they're speaking a foreign language. If they say something is wrong, it most likely is. Most Doctors will only believe what has been published in a journal and they've lost all respect for intuition. Ok - so maybe not a 6th sense REALLY, but a strong sense of intuition that may not have existed beforehand. We are intense - I'll give you that. :)

That is awful that you had to go through the loss of one child and then having another with the same condition, I'm glad to see you are an awesome parent and it hasn't slowed you down a bit, Emily seems to be very well loved and cared for, and I hope that she is with you for a long time and has a very good life provided the circumstances.

Thanks!

Thank you very much for your answers, for your attitude and for the amazing care you provide to your daughter - happy new year! :) Say hi to Emily for me.

I will indeed! Thanks and Happy New Year to you as well!

As someone looking into the healthcare profession thank you very much for this response! helped out a lot.

You are welcome. If you're already thinking about this, I hope it helps you be the best your patients can find.

I wanted to jump on this as well. Not as a person who has a disabled child, but as a long-term, chronic-disease patient. I hope OP can agree with this.

If you have the time, familiarize yourself with insurance policy/law. I suffered for a long time with insurance companies, and still do. Most medical professionals don't seem to be aware of insurance shortcomings, etc., because they assume it's the patient's responsibility, and come off as just waiting for payment. Of course it's my responsibility to know what I have, what I'm paying for, but a lot of the time it's Greek to me. The best doctors I've ever had were human first, caring second, and scientific third. Any doctor that doesn't patronize me, listens to me, and shows his salt gets my recommendation, my continued faith, and a lasting gratitude.

Absolutely. I actually KNOW what my insurance policies say. It's the only leverage you have in this fight. Also, there are people out there that are willing to help write your responses to denials. Use them. They're good at it, and they enjoy doing it.

I also suffer from SMA, but it's type 3, I'm a 20 year old female. I can do pretty much anything anyone else does, but I get tired quickly, can't lift heavy things (10lbs or more) and can't jump or run, etc. Reading through a few of your replies just made me really happy to see that you handle all this so well. My type 3 SMA still gives me everyday struggles, and this gives me courage to know that if you can handle your situation I can handle mine. Just wanted to say thank you for doing this AMA and you can let Emily know I as well love swimming!

You are welcome and thank you for commenting!

I also lost a child, Charlotte, at the age of 5 months from SMA Type I. I thank you for being so brave and discussing this devestating disease so openly. I wish much love to you and your family.

We are sorry for your loss, hg1223. Thanks for commenting and blessings to you and yours.

What are Emily's cognitive abilities? Does her brain function like other children her age?

Yes, Emily's brain functions like other children her age, but her weak muscles do make it difficult to form words. Every SMA child I meet or now (literally thousands of families) is extremely bright and desires to experience all of the same things our able-bodied kids desire. Given the medical complications it is always a challenge to find the least restrictive educational for her, but she is doing well despite those challenges.

Where are you from? My younger brother has a physical disability(Ataxia Telangiectasia); we live on Long Island and there is a wonderful school, Henry Viscardi: School for the physically disabled, which allows him to enjoy a full, normal education with all the assistance he needs during the day

We live in MD and our county is well-known in the disabled community for social programs and special education.

If there were three things you wish everyone would just know about you and your family, what would they be?

Oh SNAP - missed this one!

1) While Emily may not talk to you like a normally-developed child, she is not cognitively impaired. She really enjoys the time people are willing to spend with her. Try it and I bet you find you enjoy her company a well.

2) We can be a little intense.

3) We want everyone to know about SMA, so we can more quickly move towards a cure. SMA has been determined to be the MOST CURABLE of all neuromuscular diseases. We're looking forward to that in 2013!

I am glad to hear about #3 and hope it goes well.

Can you elaborate on #2? What do you mean by intense?

I am not someone to back down - especially when it comes to Emily's care. And, I am pretty passionate about anything else you care to talk about. The level of passion and intensity it takes to advocate for your child also happens to bleed over into every other aspect of life.

Most curable? Does this mean there's already a treatment that works some of the time as opposed to none/barely any, or that it seems likely that a fairly simple cure will be developed soon?

It means the crux of the disease has been identified and there are ideas of what to do - whereas other neuromuscular diseases are still a great mystery by comparison.

What many people here fail to realize is that this was not a tragic accident. It was completely avoidable.

After having already lost a previous child to SMA1, you and your wife chose to ignore the option for prenatal genetic testing and to bring a second life into this world with a 100% chance of total physical disability and a 90% chance of death by the age of 2.

My question is: what guides your sense of morality?

I don't think anybody is failing to realize anything here. In fact this isn't my first time around the criticism block. We made the decision that we felt was right, by our own personal measure of morality. We must categorically disagree on this on several levels a thread on Reddit will never be able to address, but I challenge you with the same question - what guides your sense of morality to murder an unborn child b/c you are afraid of their disability?

Hey,

1. You mentioned that many Children with SMA die at a young age. Does their chances for survival always remain low or is there a threshold of if you reach this age you are likely to survive longer?

2. When she visits friends in their homes is it awkward for her to play at all with her friends?

3. I am someone who is adamant I want Children. I don't feel however I could deal with the stress or complications with a disability. Did you always know you would be able to do something like this or is it something that everyone thinks they couldn't do then in the situation overwhelming love for their child changes them?

1) Chances of living longer have increased due to education, care plans, improved medical equipment, and more in-depth understanding of appropriate nutrition - completely lead by PARENTS, I might add.

2) Visiting friends can be tough - but we do have "play dates" at our house since the space and environment is more situated for her. We struggle at times when Emily can't run all over the place with her peers, but for intents and purposes she is understanding and enjoyes her time with them no less.

3) I would have NEVER said I could handle this. I still don't. I have no idea how to do this. But I do it. We are our greatest limiting factor. Don't let yourself be limited.

Another question regarding 3). May be a hard one; If you and your wife fell pregnant again and you found out the child had SMA from an early stage of the pregnancy, would you consider abortion being as raising one child is already hard enough. (don't answer if its too much of a sensitive topic)

Absolutely not, and a fair question. Our oldest is SMA-free, our 2nd passed away from SMA in 2004, or 3rd Emily has SMA, and we actually now have a 4mo that is SMA-free. We did not test for SMA and would never consider an abortion due to a known or unknown disease.

The funny thing about kids and time -- how much of your time does one child take up? --- ALL OF IT.

Guess how much time 4 kids take up ---- ALL OF IT. :)

Thank you for your answers. I sincerely hope you and your family have many awesome years to come!

Thanks - and same to you!

Your response to question number one reminds me of a movie I watched in 9th grade biology class - Lorenzo's Oil. I don't know if you have seen it or not, but it is a true story about a boy who developed ALD, and his parents ended up coming up with a cure for the disease on their own and extended their son's life by more than two decades.

Great movie. Very difficult to watch as a parent of an SMA child.

Follow up question.

1) Chances of living longer have increased due to education, care plans, improved medical equipment, and more in-depth understanding of appropriate nutrition - completely lead by PARENTS, I might add.

What do you mean by completely lead by parents?

The nutritional changes and popular diets for SMA kids were put together by parents, not clinicians such as dietitians. We consult with them to ensure we are getting the right nutrients at the end of the day, but other than that our cocktail for Emily is based solely on the invaluable input and intelligence of other SMA families.

You could stand to teach a lot of people about what being a parent is...wishing your family and your little daughter especially the best

Thank you very much. All the best to you and yours as well!

I don't have anything to ask but I just wanted to share with you that I was married to a man with SMA Type II. We were together for 7 years and married for just 4 months. He passed away 3 years ago on New Year's Eve at the age of 29. Not a day goes by that I don't think about him and I miss him dearly. He always wanted to live a life as "normal" as possible and I tried my hardest to make sure the 7 short years we were together were as full as possible. Taking care of someone with special needs isn't easy and at sometimes incredibly difficult but what made it all worth it is to see him happy and having him know that someone was there to love and care for him. Having him in my life has made me the person I am today. I wouldn't change a thing.

That being said, I applaud you for going above and beyond for your daughter to take her out on that ice rink. I bet that meant the world to her.

I am truly sorry for your loss and thank you very much for sharing.

What's a typical day like for you guys?

What are Emily's favorite things to do?

How do you and your wife juggle work and daily needs?

What the chance of having a child with SMA? Is it an inheritable condition?

I have more questions but I have to go to dentist now :/ So maybe I'll be able to get back on later.

Emily's favorite things to do:

• LOVES going out and about. We have a 15-passenger handicap van and if you are local you will see us on the road every day. We have a big Cure Spinal Muscular Atrophy decal going down both sides of our ginormous van, so we're easy to spot. We also make several "long" trips a year... like >11 hrs away. This has taken some time to get good at, but she loves to experience new places, people, and things.

• Emily loves watching videos. Nothing to strange about that cuz who doesn't?! :)

• Emily LOVES music and I play instruments and sign WITH her nearly every day. Her favorite class in school in music, naturally.

• Emily also loves going to the pool. When you're weak, being weightless in a pool is a slice of heaven. It's all smiles and "talking" when she's in the pool.

• Emily absolutely loves spending time with us, but more specifically her siblings. They are all heads over heals for each other. Hardly anything more special than that!

1:40 people carry the recessive gene that causes SMA. Each pregnancy of two people that carry the gene has a 25% chance of having SMA. The magical estimate is that 1:4000-6000 newborns have SMA.

As you can see, it's not "rare," but often children die very young and people tend to not hear about SMA.

Typical day: hard to capture that here - I should do a time-lapse of one of our days. However, it starts with waking up an always-happy child and getting her ready for a respiratory treatment that consists of equipment such as The Vest, Nebulizers, Cough Assist, and Suction. There is also washing up, changing out her feeds (g-tube fed), clothes, and getting her ready for the day. We typically have a nurse to help us with these daily tasks, but not always. We take Emily out and about on normal errands, to school, therapies, movies, friends homes, family gathers - just like our other children. Emily gets a minimum 3 of the aforementioned respiratory treatments/day, and we do a lot of laughing, playing, reading, TV watching, throughout the week.

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Thank you very very much. If you wouldn't mind PMing me I'd be happy to share more wrt your last question. Thanks!

The most difficult part of any of this is the logistics and relational side being parents. I work FT and my wife is a stay-at-home-mom/special educator/everything! I have had the fortune of working for employers that are quite understanding of our situation and supportive of time off, even if it means I am taking unpaid leave. This is no small feat and the vast majority of parents of disabled children do end in divorce, so it's important for them to have support in place to help them. We have good support in our lives.

I am struggling with several chronic diseases that faces no cure or vaccine in the near future and my parents are very helpful and understanding in trying to make my everyday life as comfortable and normal as possible. Unfortunately I know that my siblings feel a bit left behind and not as much cared for due to this and this pains me as I know my parents are doing everything they can for them to not feel this way and I love my siblings very much. My question is: Does Emily's siblings struggle with feelings of jealousy from time to time (which would be perfectly understandable even if they love their sister dearly) and what is Emily's feelings on this?

For one reason or another, Emily and her siblings handle this quite well. It is most applicable to our oldest who has lived through the passing of our 2nd born, and now Emily. We involve her in Emily's care and she can't do nearly everything we do for Emily. I'm more comfortable leaving her (almost 11yo) with Emily for 15 mins than nearly anybody else b/c she knows her care inside and out.

Often times, before we are even up in the morning, our oldest is up and in Emily's room putting a fun show on, taking her BiPAP, suctioning her if it's needed. She's incredible.

What's the most challenging thing that you've had to overcome? And what have you had to give up to support your daughter?

Thank you for being fantastic.

We have given up meaningless dreams and replaced them with better dreams.

By far the most challenging thing we've had to overcome - and are still overcoming - is challenging medical environments where the staff will not listen to us. There are plenty of other challenges, but that is the most restrictive b/c you are fighting a massive system - similar to insurance.

Hello! Unless I missed it I didnt catch the age of your daughter, but from what I can see, she looks young. Im sure you are well aware of the summer camp available to Emily (MDA Summer Camp) and was wondering if you plan on letting her go (assuming she hasnt) ...I have been a volunteer at the camp here in Arizona since I was 15 and going on my 12th year this summer. So many great memories and people willing to help her for the week, plus you and your (assuming wife?) get a little vacation.

Thanks. Emily is 7.5 now, so still a young lady. :) We are familiar with MDA summer camp and hope that Emily can attend one day. Thanks for the heads up!

She is old enough now! Do it! She will love it :)

Thanks we will check it out for this year!

What did you think of Avery's Bucket List? (http://averycan.blogspot.com/)

Are you excited about the trial of new genetic therapy trials?

Every family has to choose how they are going to deal with SMA. I respect Avery's family and am thankful for the awareness of SMA they brought to the world. There was some drama in the SMA community about the List, but their perspective is different than mine - so I'd expect their representation of SMA to be different as well.

I feel my responsibility in all of this is to do everything I can to inform families of their options so they are making the most informed decisions for the child(ren) - and to do everything I can do be an example of what is possible.

We are incredibly excited about the new genetic therapy trials and look forward to the day Emily can benefit from them. Initially, the trials will be focused on the youngest kids with SMA. I feel this is the FIRST promising move to rid the world of this terrible disease.

I didn't realize there was any drama surrounding that blog/family. Honestly, I'm glad to see that there are just families willing to share their story and work hard to promote treatments and inclusive lifestyles for children of all medical histories.

Best of luck.

Absolutely. HUGE props to that family for putting themselves out there! The world needs to hear more of these stories or they'll never be address with advances in medicine.

First off, you are amazing! How has having a child with SMA changed you as a person?

Thanks! SMA has changed me in many ways as a person - some that I know, more that I don't yet.

• Primarily, I don't sweat the small stuff. SMA changes your priorities by giving you new ones - good ones. We are far more focused on the quality of life vs the unimportant nonsense that we would otherwise occupy our lives with.

• SMA has taught us financial responsibility b/c, as many know, disabilities often cause severe financial burdens.

• SMA has given us a new perspective on cherishing the people in our lives, and motivated us to do what we can to improve the lives of others.

• SMA has deepened my relationship God due to my struggle with how to manage a life with SMA. This is most definitely counterintuitive to what most people think, but it is my experience.

• Gosh, I could do this all day...

You sir, have been the first to bring a tear to my eye in a very long time.

You remind me of my parents. Quite similar to Emily, I also have Type II SMA. I am 21 years old now and I can tell you that I would not be where I am today without my family. I don't know what else to tell you, but you and your wife are doing everything right! From anecdotal experiences, there will be ups but there will also be downs. What is most important though, is that the family be strong and always there for her when she needs it most. Treat her like you would to any other human being.

You already seem to have the most part covered so all I can say is thank you for spreading the word of SMA out there. We need more parents like you as well, with an SMA child or not.

Thanks for commenting! All the best to you and your family as well. And thanks for recognizing your parents love and devotion to you. :)

did you know of her disease before or after her birth and how did you react to her disease? By the way, I wish your family a great year.

We did know about SMA before Emily was born b/c we had another child that passed away at 13 mos, but we chose not to test while my wife was pregnant. Emily was diagnosed at 5 weeks b/c the hospital screwed up the initial bloodwork. Our initial reaction was devastating, which was quickly replaced with a sense of purpose and a mission to provide her with the best life possible - which we have continued to do for the past 7.5 years.

Thanks - and we wish you a great year as well!

I greatly enjoy reading the Laughing At My Nightmare blog - it is written by a young man with SMA who has a wonderful sense of humor and humanity about the whole thing. He has started a nonprofit with the express purpose of promoting positivity! It's pretty great.

Awesome. I hate stairs (http://www.ihatestairs.org/my-disability/) is another great blog -- there are several good ones.

What are some of the most helpful things that doctors, therapists, and teachers who work with Emily have done? What are some of the least helpful things they've done?

Does Emily ever express frustration at having difficulty expressing her intelligence? If so, what ways have you found of helping her?

Thanks for doing this. I've done a bit of work with special needs students and hoping to pursue a degree that'll let me do more; reading your answers has taught me a lot!

Most helpful:

• Engage Emily in conversation, play, fun.

• Explain what you are doing, if you are a medical person, even if it seems pointless to you.

• Earn Emily's trust by doing the above before moving along with your agenda.

Least helpful:

• Assume that Emily can't do something. Never underestimate these kids, even if it just seems impossible.

• Underestimate how complicated her care is

• Not talking to Emily like you would any other human being is not good, and we won't put up with it for very long.

Emily expresses frustration by ignoring people most often. Or, she'll here us explaining it to someone and she'll giggle about it. I don't know all of the things going through her head - maybe one day I will - but some things are quite clear. She is a strong-willed child that loves being particular.

This is a harsh question, so I apologize.

How long do you expect your daughter to live? I read that most people with sma die early.

What is the quality of life for your daughter? Will she be able to marry? Have kids?

If you and your wife get hit by a bus tomorrow, who will take care of Emily? Who will pay for her care?

Do you you have palliative care in mind for her?

No idea how long Emily will live, but as long as I am alive I suspect a long time. Dr's tell every family their Type I child will not live to be 2.

Quality of life is brought up A LOT. Emily's life is different than most, but it is good. It is unlikely that she will have kids, but who knows about getting married. She's 7 - we'll see.

Thank you for sharing your story. I am an LPN who works with a woman who has SMA, but her condition is much less severe than your daughter's. I am glad to see that she is loved and that she knows she's loved and important!

Thanks! And I am sure the woman you care for is lucky to have you by her side. :D

Somewhere in the post you mention "talking". How much communication are you able to have with her?

Emily has a tough time forming words, but indicates her expectations through finger, eye, eyebrow movement. She also uses an eye-gaze computer system that watches her retina and allows her to spell, select, play, etc on a tablet PC. So, it's tough to answer "how much," but we are communicating with her every moment we are with her.

What's interesting is that we would all probably say that we communicate with our dogs, yet they never (hopefully) speak to us. Yet we determine for some reason that disabled humans can't communicate if not verbally. I know you aren't saying this! Just a thought as I write my response.

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Thanks!

Does your daughter go to a "regular" school? Does she have an aide with her throughout the day? How does she participate in classroom activities? She's young now, but as she grows older and school starts to become more serious, how will she complete assignments (i.e. research, essay writing, science experiments)?

She goes to an incredible special needs school in our county. We looked at several schools that do inclusion, but they just weren't setup for her to participate in class.

Education is kind of an unknown at this point. We are working with her to master her eye-gaze system, which many older kids use to interact online, do assignments, etc, etc. We will tackle those hurdles when they happen, and I bet it will be a challenge. She also has one of her personal nurses with her at school or she doesn't go as no one is familiar enough to make us feel comfortable. She also has a special educator that comes to the house to help out when she can't get to school.

I often feel that i should interact with disabled persons like with any other person. For example if they can get something done by their own i dont help them. Running around and asking them if i cane help them feels like i split them from the rest of humanity because they dont cant do all the things other people can do. But if they are relay struggling or cant do things on their own i offer my help. I just dont whant to make this people feel like their are outside of community but part of it. Is this the right way to handle these situation or would you recommend you something different?

This is a great question. I don't particularly think this is wrong, but very few people turn down genuine help. Yes, I have even encountered the occasional "I don't need your help," but I'd rather ask them and be wrong then not ask and give them reasons to feel helpless.

What gives you hope for your daughter?

Depends on what my hope is, I guess. I hope that Emily continues to enjoy her life as much as she does today. I hope that others will learn that disabilities aren't the end of life by learning to value hers. I am hopefully that a cure will come in her lifetime, but realize that it very well may not.

I hope she realizes how many people are thinking about her and sending their best to her and your whole family. :)

I may be criticized for this but, God bless you, your wife, and importantly your daughter.

Thank you very much - an appropriate blessing from an appropriately chosen username. We wish Gods blessings on you and yours as well.

If you don't mind me asking, where did you get your testing done?

We had it done at the hospital through Athena for our 4mo baby: http://www.athenadiagnostics.com/content/test-catalog/find-test/service-detail/q/id/312 Emily's diagnosis was also done through Athena, in addition to an EMG in the neuromuscular clinic.

Saw the image, wished there was a way to tell you how much of a badass father you are... and well, here you are! You're a badass father!

Thank you very much. It is a title I will carry proudly.

Can you explain to me what the controversy surrounding Avery's Bucket List was? I mean, I might be missing something here, but I can't find one thing offensive in that blog. It's touching, beautiful and heartbreaking.

Many parents felt it was a misrepresentation of what is possible with our Type I kids. That it promoted death as an only option - which in the eyes of the parents was the only option. Unfortunately there were some reactions that didn't strengthen the community, but split it.

What is "the vest" for in your previous videos for Emily? She looks like she enjoys the sound of her voice when she is using it!

The Vest is a machine that pulses rapid percussive air through some tubes into a wrap around Emily's chest/lungs. It is an alternate form of Chest Physiotherapy - or Chest PT - that loosens the sections in the lungs. Followed by good coughing and suctioning this helps us keep Emily's respiratory system healthy.

Hi, I am a computer specialists who builds tools for patients and I have started to collaborate extensively with the society for participatory medicine (s4pm for short) which is the nonprofit most closely aligned with the epatient movement. There are many in the rare disease community who eventually come to participate in the epatient movement.

But sometimes I wonder if I (and the society) are working on projects that are really meaningful. You are obviously technically sophisticated enough to be on Reddit... So what software/hardware tools do you feel are "obvious" and would really help you, your wife and/or your daughter, ut either don't exist yet or are too expensive for some reason?

Using an iPad as an eye-gaze system. Humanity is seriously missing a population who's life would be drastically different if we had modern tablets modified for kids like Emily. There are some touch-based things, yes, but visual is what I am thinking.

Some dongle device that I can attach to my home medical devices to and ping for information (using BT or Wifi) - Oxygen saturation, BiPAP settings, changes in O2 and heart rate over a period of time. An app to collect this information in the home setting. etc.

I am sure there are more I will think of.....

I remember in the first thread your friend mentioned that you and your wife manage most "airway emergencies" at home. Can you explain a little more about this? Is she on a bi-pap machine 24/7? Ever intubated or trached?

Emily uses a BiPAP while sleeping and resting, Cough Assist to help make her coughs more productive, The Vest to help us loosen secretions, and frequent suctioning since her swallow is weak.

What was referenced is the fact that we also know how to "bag" Emily (or anyone for that matter) to maintain an airway in a pinch.

What other activities - similar in fashion to this - do you do with your daughter? For instance, I know that Trever Miller (a pitcher with various clubs - i know of him from being a Rays fan) has run many races with his daughter. I believe he even completed the disney marathon in 2009 pushing her along. If you don't do this, is it something you've given though to?

I do want to run a marathon, or something else, with Emily. We need a more adaptive chair for running, however. There used to be some imported to the US, but the company stopped due to lack of market. If I had a chance to get my hands on a running chair for Em that can carry her equipment I'd all over it.