A Phone Call

Most of you probably remember that we were able to get assistance in getting full exome sequencing done for David in the summer of 2015. We went in very optimistically after doing extensive testing for more than 13 years in hopes of finding an answer for David's apparent genetic disorder. We came away from that disappointed that there were no findings. It was just another hope crushed with nothing else to look forward to.

With time, I came to terms with the fact that we had no answer. I have been asked numerous times what David's purpose is. And I can tell you that a huge part of his purpose is to teach love, compassion, and differences to the rest of the world. I think we're doing that slowly but surely with every page view this blog gets.

This past fall our genetic counselor called me to tell me that as part of the testing process, the company we went through offers a "free" one year reanalysis on the sequencing. She asked if we wanted them to proceed with that. I said "sure" and promptly gave myself reminders that in the genetics world, one year is not enough time for research to discover many new things. We'd gone through extensive testing through all of David's life and had never gotten an answer that entire time. This time I had truly not even given another thought to the fact that they were re-running these tests.

Until today.

At 9:35 this morning, my phone rang. I could see it was from Carle Hospital. I assumed it was the neurology office calling me about a few pharmaceutical needs that had come up for David. I was very surprised to hear the voice of our genetics dr of the last 14 years.

He said "My nurse just gave me the paperwork from the reanalysis and they found something." It took me at least a minute to process those words and another minute to get Michael to get a piece of paper and get that this was big. If you've ever been to a genetics appointment, you know that it's a complicated world where symptoms and features spill into so many different categories it makes your head spin. And if you've ever seen OUR geneticist, you know that he is a fountain of information and knowledge, thinks out loud, is extremely blunt, and speaks to you like a colleague. And is wonderful.
He said "David has You-Hoover-Fong Syndrome. It is extremely rare. There are only 6 other published cases world-wide. Three of those cases are siblings. I fully agree with these findings."

Say what?!?! So many emotions. Shock. Disbelief. Grief. Excitement. Wonderment. Confusion. So. Many. Emotions.

He was on the phone with us for a good 30 minutes. This syndrome affects the telo 2 gene and was just discovered in May '16. There is not a lot found about it on the internet. Believe me. I've been searching for things a good portion of the day. But the synopsis fits David to a T.

Here is the information describing many of the symptoms:

YOU-HOOVER-FONG SYNDROME; YHFS

INHERITANCE

- Autosomal recessive

GROWTH

Other- Poor overall growth

HEAD & NECK

Head- Microcephaly Ears- Hearing loss (1 family) Eyes- Cortical visual impairment (in some patients)

CARDIOVASCULAR

Heart- Malformations of the great vessels (1 family)

CHEST

External Features- Pectus excavatum

SKELETAL

Spine- Kyphoscoliosis

MUSCLE, SOFT TISSUES

-Hypotonia

NEUROLOGIC

Central Nervous System

- Global developmental delay, profound
- Abnormal balance
- Movement disorder
- Abnormal movements
- Ataxia
- Spasticity
- Lack of independent ambulation (in most patients)
- Absent speech
- Normal brain imaging

MISCELLANEOUS

- Onset at birth

MOLECULAR BASIS

- Caused by mutation in the telomere maintenance 2, S. cerevisiae, homolog of gene (TELO2)

Now I know that is just a lot of medical jargon most of you probably don't know. I didn't know it until I started this journey with David. But they are all terms used to describe him. Every single time we go to a specialist. I have so many notes from doctors with these terms in there. The only thing that David doesn't have from this list is the heart malformations. It's scary how much it relates to him.

Some other news to go along with this HUGE revelation is that Michael and I are both carriers. We are so blessed to have Kyle be a typical child. Because we now know that our chances of him having this syndrome was 25%. We also know that Kyle is probably a carrier. And it will be between him and his wife to eventually figure out how they want to use this to approach the way they will have children. She would also have to be a carrier. Which the dr assured Michael and I that would be rare. But I also know that Michael and I found our way to each other and rare or not-we're both carriers.

My good friend, who has been on a genetic roller coaster of a journey as well, said to me today "Knowledge is power." She is so right. While this news really changes nothing. It changes everything. We have a name. A real, genetic name for something we've always known was there, but it haunted & eluded us until today. David will be part of something larger than what I thought his original purpose was. Not only is he teaching the world all those things I mentioned earlier, he will hopefully be able to provide some information for further research on this syndrome. Because to be only 1 of 7 known people world-wide to be diagnosed with this means that he will be published and be able to help find more answers to questions regarding YHFS.

There is so much more I could write, but it would be rambling. So I will leave you with this:

It's the same face and the same child who left for school this morning without a diagnosis. He is the same child. He just has new information added to his long repertoire of "stuff".  He will still go to bed as David and he will still wake up as David. I need to remember that before he becomes a case number in a research study. Before he is just a bucket of  "symptoms" to a researcher. He is a boy who just happens to have something called You-Hoover-Fong Syndrome. And while we're grateful to have a name for his symptoms, that's all it is. A name for his symptoms. Because his name is David Webb.

#YOUHOOVERFONG #TELO2gene You hoover-Fong

A Toy and a Tear

This has been a year full of ups and downs. Probably the most difficult thing we endured was losing a beloved pet in Webster. It hit us all incredibly hard--especially Kyle. In the aftermath of that, we gained a newly beloved pet in Gunner. He's a stinker, but fully loved.

This Christmas I was able to get almost all of my shopping done before Thanksgiving. I love having everything ready to put under the tree when it goes up. We don't really hang our stockings here at home. Santa fills those at Grandma & Grandpa's house and we open them with our entire family there. Which makes it easier for me than it was for my mom when she had to fill 4 stockings for her 4 daughters only after they fell asleep on Christmas Eve. I get mine done while the kids are in school and smuggle them to my parent's house long before Christmas Eve.

While filling them this year, I could see that David's was so sparse compared to Kyle's. The kid can only have so many pairs of socks to fill it. So I was on a hunt to find something to fill the space. SO HARD. I know what he likes. Hats. But I already had 2 of those. I know what he needs. Socks, soap, toothbrush, etc. Already had most of those. And mirrors. This is a little trickier. They have to be soft-sided mirrors so he can't hurt himself on them and they have to be able for him to grip with poor fine motor skills.

So I found myself in the baby aisle at Wal-Mart. With a cool puppy toy (with mirrors on his feet) in my hands. Big enough to fill the space I needed to fill. And when I say "toy".....I mean "rattle". Marked for ages 0-6 months. I knew he'd probably like it. We have others similar. And I found myself torn. He is almost 17. It's a little heartbreaking to be purchasing an infant toy for a young man who is also requesting a good electric razor from Santa (that's an entire other can of worms for this mom). What did I do? I cried. And then I bought him the toy.

My entire world revolves around keeping him happy and content in this life. And even though he will be 17, he truly is an infant stuck in a big boy's body. I really think he'll like the puppy toy. It hurts that I will never buy him an ITunes gift card, a video game, or give him keys to a car. But if I were purchasing those things, they wouldn't be for David. They would be for someone else. He's perfectly and wonderfully made. He's David.

And he better like that toy that brought me to tears.

Merry Christmas! I am truly grateful for you all.

Belief

There is so much influence through social media in today's world. So much. Between political views, how to raise children, how many people you know, and faith. Sometimes I can't stand to look at my newsfeed. Especially with the upcoming election.

Today I don't want to talk about who you're going to vote for (It's your right as an American to vote for who you believe is best. It's also your facebook friend's right to vote for who they think is best. It might be different. And that's ok.) I don't want to talk to you about how to raise your kids (This also is an individual thing. You know what works best for your family. Do that. There is no book on this subject.) I don't really care how many people you know (As long as you surround yourself with quality people who enrich your life, it can be one or a million.)

I do want to talk about my faith. It might be different from yours. I won't push my beliefs on you. I promise. And you don't have to finish reading this if you're not interested. That's ok too.

I want to talk about my faith and this face. The oldest child in our family.

 

 

I was raised in a Christian household. Lutheran to be exact. We went to Sunday School every week. We followed it with church and breakfast at McDonald's. I went through confirmation with my younger sister. We attended youth group. We loved the fellowship & friendships.

 

 

I had David almost 17 years ago. My faith was shaken, but not broken. We moved away from my home church. It took a long time to find a church that felt like home to us. We now attend a Methodist church with a wonderful support system. It may be a different denomination than I grew up with, but we still follow the same beliefs. It feels right.

 

 

When David was 3, one doctor told us that we should not expect him to live into his 20's. While shocking to hear, at that time, 20 seemed so far away to us. Through the years, we've been told similar things in more round about ways. Still hard to hear. Then 3 years ago we saw that same doctor who was the first one to utter those words to us. And he said them again. While David seems healthy on a day-to-day basis, he is at severe risk for micro-aspiration and other minor ailments to you or I, but major to him. While he's grown larger with age, sadly, his immune system remains the same-extremely vulnerable. And when he told us the same thing 3 years ago that he told us when David was 3, it became a lot more real. A lot harder to hear. And a lot scarier.

 

 

It was then that my faith became a larger factor in my life. I began to pray everyday. I pray that David has a long life. And I also pray that if he doesn't, that I will be reunited with him one day in heaven. To have him be able to hear me say "I love you", to be able to hear him say he loves me.

 

To have a child that basically has a rough time-limit stamped on him is hard. I need my faith. I need to know that one day we will be reunited. I need to be able to reassure my younger child in unforeseen events that one day he will be reunited with him. My husband needs his faith for the same reasons and to stay strong when I occasionally fall apart. 

 

To be honest, David could live so much longer than they tell us. He could outlive all of us. He's my superhero daily. Doctors can be wrong. But they can also be right. If I didn't have faith, I think I would fall apart much more frequently than I do.

 

It's ok if we have different beliefs. I hope yours can give you the same kind of faith that I have in my beliefs. Let's not judge one another on social media for what we believe. I've seen so much of it lately, and some days it's really hard to see. Because while we may have different beliefs, I really want to believe that we all want to aim for similar goals of peace & kindness in this world. Attacking others is not the way we should be going about it.

 

Be good. That's my hope.

 



 





 

Ask The Watkins (Round One)

 

 

 

Thank you for sending me your questions this week. We've had fun answering most of them and thinking about some of the more serious ones as well! Some may have over-lapped each other slightly, so I've kind of lumped those together. Please note that all answers given for David reflect how we THINK he would answer them if he was capable. 

 

 

 

1. What is 1 thing you would change about yourself or anyone in the house? (For all)

Kyle: For my mom to yell at me less.

Natalie: ^^^^^Ha! I guess about myself I would say I need more patience! But if I could change something about someone else, it would be that David could communicate how he was feeling with words. I would hope he would tell me how I can help him when he's conveying his feelings through emotion only. It's a guessing game that has been difficult for the past 4 years.

David: I would want myself to be able to walk, talk, and hear.

I must not have gotten an answer from Michael. I would probably say that he's in agreement with my statement. Oh. And that I would allow him to fold the towels his way instead of my way. LOL


2. What is the hardest thing about having a brother with special needs? The best thing? (For Kyle)

The hardest part about having a brother with special needs is when he's in a bad mood and we don't know why. It is really hard to make him happy when we don't know how to help him.

The best part of having David as a brother is when he's in a really really good mood and I can play with him and he laughs at me.

3. Do you get disappointed when you can't do certain things with David and his wheelchair? (For Kyle)

I do, but I know I can do it eventually when I'm older or with friends. I understand why I can't do them. We can't go on trail climbs, zip-lining, or parasailing on vacation. When I do get to do those things I think it will be fun and awesome and amazing and epic and I will do them for David.

4. What is your favorite thing to do together as a family? (For all)

Kyle: I like to play board games with my mom & dad, but David can't play them. So with all of us, I just like for us to go in his room and play with him when he's happy. And when he's mad. I also like when we go to the movies.

Natalie: We don't do it nearly enough, but I really enjoy going on bike rides together. It's something David really enjoys. We have a bike trailer for special needs adolescents/adults that he rides in that is awesome. I also enjoy going to photo shoots together. We will usually walk around & explore before and after photo shoots.

Michael: I like going on bike rides as a family. And photo shoots.

David: (Kyle is asking David right now.) And he says David said he likes when we all play with him.

5. You and Michael both have outside endeavors outside your regular jobs and being a parent (photography; Younique, volunteering, etc.) How do you include your kids as part of it? And what led you both to do both of those things?

Natalie: When Kyle started school, I really felt like I needed to give some of myself to his school life like I always had with David. I hope volunteering to help with school activities and in his classroom shows him that I value him just as much as I value David and that he feels like I am taking an interest in his likes and activities.

Most of you know that being a presenter with Younique is fairly new to me. I originally signed up just to get a great deal on the make-up, but soon realized that I felt so good to be able to contribute a little bit more to the expenses in this household. I've also found that it gives me the opportunity to do something for me. I've had such a good time learning more about make-up and promoting the self-confidence of other women. I really don't include the kids too much (Kyle did my make-up once in my VIP group and it was a hoot though!). If I had daughters, that might be a little different though.

Michael: (Worded by Natalie. We discussed his answer the other night, but right now he's at work) I began dabbling in photography because we had a really hard time getting good pictures of David. We couldn't schedule a time with a photographer because we would have no idea how his mood would be that day. I've always liked artsy things and this was another way I could showcase my abilities. I really only do it as a hobby, but I love providing families with pictures they can have forever. We always do photo shoots as a family and recently Kyle has taken a liking to it and I've started teaching him how to edit his own photos.

6. What is your favorite thing about this community? (For all)

Michael: Definitely the friendships we've made.

Natalie: I love the small community we live in. We rarely ask for help, but I love that I have so many people we can count on if we need to. Our friends always continue to lift us up when times are hard and in turn, I hope they know they can count on us to do the same. We've been here for almost 15 years now and we definitely consider this our hometown, even though we are "transplants".

Kyle: My favorite thing is that almost everyone is friendly, all my friends live here except for one (James) and I really like my school.

David: He loves Blue Ridge and he loves that his brother, mom, dad, and dogs live here with him. He likes getting to ride the bus to Clinton for school everyday and loves the friends he's made there too.

7. What is your favorite animal and why? (For Kyle)

Tigers!! Because it is something that not a lot of people like. I also love all dogs. Except mean ones.

8. Why do you run? (For Kyle)
I do it because my brother can't. And it's fun. It makes me feel good because I know I'm running for a reason (David). I like the competition when I run in races. And I always have a goal trying to place or beating my best time.

9. Does Kyle believe his dad is the real Superman??
Yes & no. But mostly no.

10. (These questions are completely anonymous, but you might be able to guess who asked this one.)
Please tell us why you idolize Jessi & Brent Lueking.

Natalie: Because I think that they are the king and queen of Riverton. And who doesn't idolize kings and queens???

Kyle: Because they are great. And they just got a new puppy I really really really want to meet.

David: I idolize them because they pay me to.

Michael: Sure..........


Those are all the questions I got this week. It was so fun to do, and if there are others, I'd love to take them down and do this again in a couple of months!!

Back To School-My Do's & Dont's

It's that time of year already. Back to school for my kids in one week. I am still not sure how I am going to have them both out the door on time. We have to start our new routine soon!!

The first day of school brings so many emotions. Some of us will be cheering. Some will be crying. Some will welcome the routine with open arms.

I feel like I've been doing this for a while now. And I have 2 kids with special needs in the classroom. One more severe than the other, but still. Both have needs outside the norm. David has an IEP in place & Kyle has a 504 plan in place. David's was handed to him when he entered the school system. Kyle's had to be worked at a little bit.

I've compiled a list of a few do's & don'ts that might be helpful for the school year. Solely based on my personal experiences.

1. Don't be a butthole. Sounds pretty self-explanatory right? You've heard the phrase "You catch more flies with honey than with vinegar"? You can use that here. Do be respectful to teachers and other employees at the school. Set the example for your child.

David in 2011

• Kyle-Kindergarten 2011

 

2. Don't hover. This is exceptionally hard for me! Do let your child's teacher know that if you have availability to volunteer, you're her parent. This might not always be in the classroom. Maybe the office or the library needs some help.

 

 

 

 David in 2012

 

 

Kyle-1st Grade 2012

 

 

3. Don't complain about homework. If you complain, your child isn't going to want to do it either. Homework is a part of life. Even as an adult. Do help your child. If he or she is having a hard time keeping up with their workload, talk to their teacher to see if they have any ideas to help you at home.

 

 

 

David in 2013

 



 

Kyle-2nd Grade 2013

 

 

4. Don't complain about your child's teacher. There are some more than others that I'd like Kyle to have. David only has one choice (and luckily each school has had an awesome choice). If you complain in front of your children, that particular teacher is going to lose any respect and authority because your child takes their cue from you.

 

 

 

David in 2014

 

Kyle-3rd Grade 2014

 

 

5. Don't be confrontational. This sort of goes with numero uno I guess. But it can stand to be repeated. Teachers did not go into their field for the great money. They do it because they felt it was their purpose. They will make mistakes with your children just like YOU do. My "do" for this is to approach them calmly and respectfully. Address the problem at hand with them in the same manner you would like to be addressed when there is a problem at your workplace. They work hard and your child is not their only problem. They have 20 others all with issues of their own. So respect and remember that. I have never had a teacher not be willing to talk with me via email or phone when either of them were having problems. Be kind to them.

 

 

 

David in 2015

 

Kyle-4th Grade 2015

 

 

 

 

And just a couple from a parent's perspective.

 

 

Teachers,

Please know that I respect what you do every day. Also please know that I know what my children's flaws are. I also know that it is your job to point those out to me. And while I know what they are, it is always hard to hear it from someone else.

 

Please understand that as a mother it takes a ton of trust on my part to hand my child over to you for 7 hours out of the day. Some days it rips my heart out if they left my home in a particularly bad mood to send them to you that way. I know it's part of life, but they belong to me and it feels strange to send them to someone I don't know very well.

 

And while I always try to send an email if things at home aren't as they should be, sometimes time does not allow me to let you know right away. If you see my children are off at school, know that we have a lot going on here and some days are worse than others. Don't hesitate to contact me if you notice something is not as it should be. My kids in particular have issues with communication. While one of them is working on that, he still won't tell you what's wrong right away. He will shut down first. I am counting on you to help him cope if he has to be at school while things are awry at home.

 

 

My last thought is that we should all appreciate and respect each other as parents and teachers. It should go both ways. I think that what will help make a successful school year!

 

 











A Decade

As of May 9th, I have been the proud (most of the time) owner of my youngest child. And let's face it. As parents we completely own these children and are responsible for turning them into caring, hard-working adults.

Throughout my pregnancy I prayed for a 'typical' child. We didn't know if we would have that prayer answered. I think you could say that we did though in the sense that he doesn't have disabilities like David has. But what we got was so much more than 'typical'. I'll take a word out of Kyle's favorite list of vocab here and say he's pretty epic.

 

 Kyle entered this world after hours of me pushing and no results. It ended with me having a caesarian section on an urgent basis. He came out crying. 7 pounds 3 ounces of a beautiful baby boy.


That first year was trying for us. He ate well and he slept through the night at 6 weeks. But he cried ALL the time when he was awake. Some people thought he had colic. I could tell this was a personality driven cry. The first year is a little blurry to this mom to be honest. I know there were great moments, but the crying overshadowed a lot of them.

But then the clouds parted and the sun started to shine. Because when he turned 1, he was a brand new kid. Independence was the name of the game for him.

He got himself into some precarious positions in the house. He required an eye on him at all times. If he was quiet, it was trouble. He was curious about the world around him. He even escaped the house around 1 1/2, but didn't get too far. And Webster stayed by his side the entire time.


Age two. His love of outdoors came. It was where I could snap the best pictures of him. Because he was in his element being outdoors. He would have lived outside if he could. He also had his first of several ring bearer gigs and learned to rock a tux.

 

 

 

Three year old Kyle was my favorite age. The things that came out of his mouth both shocked and humored me. He met his best friend when he was 3. And they are still best friends, despite being in different states. Preschool started at age 3. He gave us joy in a year that was quite challenging with David. I am forever grateful for that.

 

 

At four....he became too smart for his own good. I couldn't fault his ability to be able to tell when I was possibly telling a little fib in order to get him in the house or get him to eat or to clean his room. He became quite insightful. We spent a lot of time together since he no longer qualified for the preschool program here. He was my constant.

 

 

Five. Started school, made new friends. Had a hard time completing tasks at school. At home, he was fine. He was doing things that he enjoyed here, and while he was slow getting ready, I didn't grasp what that meant for him at school yet. He enjoyed kindergarten and showed us that he was a bright kid with a love for books by the end of the year. And had his other 2 ring bearer gigs this year.

 

 

 

 

At six he started first grade. And his love of reading really took off as he read books all the time independently now. We still struggled with focus and attention though while doing things that didn't come easily to him. We started trying other methods to reward him for staying on task. And they worked. For a little while. Then the methods stalled. But he continued to show me his strong personality and true heart. Looking back at pictures, I can see this is the year where he took more of an interest in David and started to become his protector. He adored him and David adored any attention he threw his way.

 

Second grade and age 7 brought us his diagnosis of ADD. We started medication for him after trying so many other options that didn't work time after time. The difference in him was amazing. He could really shine in his abilities of reading and spelling at school and it helped him with his weakness in math. I feel this year he found a little self-confidence that had been missing.

 

 

The kid he became at age 8 was just a better version of the Kyle from the previous year. He fully embraced his brother and our family. It became apparent to him this year that we are a little different from other families. Most of the time he was ok with that. Other times, he struggled. But his heart grew a lot this year.

 

 

 

 

This past year has been so good for him. I feel like he has learned so much being 9. He is still working on becoming confident in his own skin and navigating a new school and a group of friends that changes. He's friendly to everyone and I'm proud of him for that. He has to learn a little more about give and take with his friends and family, but we're working on that. His love of books is at an all time high and he reads everything. Except for the Captain Underpants books. He has it in his head that he won't like those. Haha. But he is taking everything around him in and absorbing the world as much as he can. He went to camp for the first time last summer and is going back again this summer. He is continuing to grow as an individual and a member of this family. I hope his love of running grows and makes him want to push for his goals. I hope his love of tigers and all other animals pushes him to be compassionate towards all living things and maybe one day he can have a career in the field of animals.

 

 

 

 

Happy 10th Birthday Kyle Matthew. You are epic. Continue to become more epic at 10 than you were at any other age, but enjoy the journey. Your life will be what you make of it and I know you will make it great.

 

 

 

 

 

 













An Interview With Kyle

While scrolling on Facebook earlier today, I came across an excellent article (http://forwardinchrist.net/respond-to-special-needs/)  on how to approach an family with a disabled child. It gave some great tips on how to respond to your children's questions about other children with disabilities. At the end of the article, the mom asked their typical developing daughter some questions about her feelings regarding people approaching her brother with a disability.

I thought that was a fantastic idea. So I grabbed Kyle from his tablet (it's totally been a Minecraft kind of day around here) and asked him the same questions.

Disclaimer: While these are Kyle's exact answers, it did take some prodding on my part to get more details from him. He prefers yes or no kind of questions. But once he got going, he did so awesome :)


Q: What do you like to do with David?

Kyle: Play with him with his hats. I like to do that because it makes us both laugh.

Q; When someone meets David for the first time, what kinds of questions do they ask?

Kyle: Why is he in a wheelchair? Can he talk? Can he see? What does he like? What's that thing on his stomach?

Q: How do you answer when people ask those questions?

Kyle: He has to get fed through a feeding tube or he might choke. His brain doesn't work exactly like ours. It sends different signals to his body than mine does.

Q: How does it make you feel when people stare at David?

Kyle: It makes me feel weird. I don't like it when they stare.

Q: What would you like to say when that happens?

Kyle: Even though he's not normal, you shouldn't stare at him. If you have a question you should ask me, or my mom or dad.


And then some extra insight that came at the end of the questions. At this point, he was laying it all out there ;)

Kyle: "I'm fine with David being disabled. He's still fun even though he is mentally like a baby, but really 16. He likes to play with his favorite toys, like I play with mine. He gets mad and sad. Just like me."

There are a few other kids I'd love to ask these same questions to. My sister's oldest son (14) & youngest daughter (4) both have pretty close relationships with David. I'd also like to ask my niece on Michael's side (almost 11). She has a great relationship with him as well. Just to get their perspectives at their ages right now.