Monday, December 22, 2008

Lily's Busy Fall

Hi Everyone! Merry Christmas! I cannot believe we have not posted since September. We are so sorry. There is not enough time in the day to do all that needs to be the blog has suffered. Many wonderful things have happened in the last 3 months - we have lots to tell about our Miss Lily!

Crawling!- October
Our biggest news is that Lily is now crawling! It is amazing how her motor-planning works. We show her the same positions over and over and over. Then all of a sudden something clicks. Once she figures something out - there is no stopping her! Jason caught her one day secretly moving in her crib - getting on her hands and knees and trying to go forward. But on Monday, October 13 - she moved on her floor in her bedroom - 3 crawls forward. I was there with the girls and we were all jumping up down screaming "She's doing it...she's doing it! ". Within two weeks she had put it all together and she was all over the floor discovering toys, cabinets, magazines, etc. She moves from room to room getting into all sorts of mischielf! I love it!!!!

Tall Kneeling - November/December
Lily is now tall kneeling (on her knees) all on her own. She started in her bed - reaching for the buttons on her mobile. Now she will get as tall as she can to get what she wants. It is awesome!. With her orthodics on her feet she can stand against a bench/table for a long period of time. A few weeks ago we took our PT down to our "scary" basement full of the older kids toys. The PT loves the train table for Lily. It is the perfect height for working on cruising. She puts a toy at one end and then moves Lily's feet for her to show her how to cruise.

We are also working on getting Lily to go up steps. She is having trouble getting from the kneeling position to standing and then putting her knees up. We just have to keep showing her over and over. She has the strength...just not the motor planning.

The Motherload of Teeth - October/November
Lily is getting 8 teeth all at once...yes...8. 4 molars and all 4 incisers! Needless to say it has been a very sleepless month. She has been sleeping a lot in our bed at night. We don't care where she sleeps as long as she sleeps. One week we were up 2-3 hours a night in the middle of the night. Lily never really cries unless there is something very wrong. She must be in a ton of pain. There are huge tears often.

Eating! - September/October/November/December
We started a new speech therapist at the end of September. She is awesome! She is so good with Lily. She is very focused on the eating portion of speech therapy. In the last 2.5 months she has gotten Lily from eating 1/2 jar of #1 baby food to eating small pieces of Cheerios, bananas, oatmeal, avocado and shredded cheese! Over the years our therapist has gotten 21 kids off g-tubes. I am confident that with time she will be able to do the same with Lily. We just were approved at our last big First Steps meeting to get an additional speech a week. So now we can focus one session on eating and one on speech! Lily is signing a few signs inconsistently - "more", "bye, bye", clapping. But she is doing a lot of mimicking- sounds we make with our mouths. She will say"ma" when repeating me and will make the same inflections as we do when we say "byiiiii". We also got a different high chair and it has made a HUGE difference in the way Lily eats. The chair fits her much better. A big thanks goes to Nana Cherryl for shipping the chair from Florida to Indiana.

Ear Infection - December
We are back to having crazy ear infections. The same ear that bothered her this summer is at it again. Lily has tubes. This kind of stuff should not be happening. There is no drainage from the tubes. She is currently on Omnicef. She is taking this one pretty hard and is in our bed now almost every night at some point. I am starting to think she really just wants to be close to me - which I cannot complain about. All last year she didn't even act like she knew I really do like it. She goes to bed well for babysitters and my sister. But when it is my turn...nothing will do but me holding her! The doctor thinks maybe the tube is not in the right place. Once the infection goes away we are going to go get it checked again.

G-tube - September/October
When we were at the conference I mentioned to everyone that we were thinking about having a procedure done for Lily's g-tube granulation. After talking to several people at the conference including a developmental geneticist - we decided against the procedure. Instead someone from the Yahoo user group pointed me towards a newsletter than highlights articles about special needs kids. One of the articles discussed this compound of Chloestramyne (sp?) and Aquaphor mixed together. I called my GI doc about it and showed them the web site. They called it in to a special compounding pharmacy. This compound is amazing!! You should see her tube now. There is virtually no granulation at all. Goodbye horrid silver nitrate sticks!
First Haircut - November
Before Thanksgiving Lily got her first haircut. She was awesome! My hairstylist Lisa - who has a child with Down Syndrome came to our house to give Lily her first cut. Lisa was so patient and gave Lily a great cut! All of Lily's curls are coming out cute!

Overall we are doing really well right now. This has been a really fun time for us with Lily. She is interacting with Nathan, Ella and Ava. They love to play with her all of the time. Ella thinks she is a little Mommy and would carry Lily all around the house if we would let her! Keeping Lily well has been our biggest challenge. She seems to pick up bugs so easily. We have her on Probiotics all of the time. We do not take her to any kind of daycares (gym/church). We have to be very careful where we do take her. Washing hands has become a full time job around here! We are keeping the soap companies in business!

We want to thank all of our family and friends for all of the amazing love and support you have given us this year. You all have carried us through this difficult and confusing year. Your prayers have enabled us to get through even the hardest of days. We love you and thank God for you every day.

We are looking forward to 2009 and the many surprises that await us. We feel that it will be a great year for our Lily.

Take care and God Bless! Merry Christmas!!

Saturday, September 13, 2008

1p36 2008 Conference

We are exhausted from a wonderful day at the 1p36 Deletion Conference 2008 in Boston. It was a great experience and we met alot of amazing people and even more amazing kiddos! They were all so sweet.

The day started with breakfast and showcased 3 great speakers throughout the day. To see some notes on each speaker, visit Nate and Melanie's blog. The conference ended with discussion about the date and location of next year's conference. Indianpolis, Utah and Oklahoma City were the final candidates for 1p36 2009.

We capped a wonderful day with a great Italian meal with our new friends Stephen, Karen and Aiden (1p36) from New York.

More to come tomorrow. For now... some pics from the conference today...

Friday, September 12, 2008

A True Blessing!

It's Friday evening and Julie, Lily and I are winding down from our day of traveling to Boston. We had the opportunity to have a brief Meet-n-Greet with a bunch of the other 1p36 families and kiddos. Wow!... we are so blessed to have this amazing group of people!

While we are still letting it soak in... we are humbled by the sense of peace and comfort we have for the folks we met tonight. We are not alone. The 1p36 families we are meeting this weekend are special people who know exactly what we are going through and will support us along our journey. Of course our family and friends will support us as well, and we love and cherish them for that support, but there is no substitute for people who are caregivers of children with 1p36 Deletions. Each and every one of them is raising a sweet little angel just like Lily.

We did not quite know what to expect as we walked into the room at the Meet-n-Greet. We were so eager to hear about everyone's experiences with their 1p36 angels. It was great! It was also kind of funny in that we were meeting people we have read about and chatted with via the Yahoo Support Group or their Blogs for the past 5 months. We felt like we were backstage at some rock concert getting to meet the performers.

"Look Julie, over there, it's Nate, Melanie and Whitney!... he's like the Founding Father of 1p36 Blogging... and he's 15 feet way from me!" I felt like walking over to Nate and asking him for his autograph!

The power of the Internet is really remarkable. Going back to that day in April when we got the call about Lily's diagnosis, I pulled up Google and typed in 1p36 Deletion. One of the first pages I found (after all the scary stuff that told us how bad off Lily was going to be) was Nate and Melanie's page about Whitney. Here was a real family who has already gone through what we are going through. They were telling their story openly, posting it on the Internet for others to share and providing a quick glimpse as to what we might expect. Through their posts, we realized it was going to be OK. How cool is that?!

It was a real treat to meet Nate tonight, shake his hand and thank him for the comfort he provided us in our difficult time. Pretty special. Looking forward to tomorrow.

As for the travel, Lily did great! No problems on the plane whatsoever. Julie bought her this $5 toy that lights up and makes noise. It fascinated her the entire trip. Best $5 we ever spent. Smart Mom. More to come on Saturday.

Saturday, August 23, 2008

What a Month!!

The last month has been a series of ups and downs. We feel like we have been on quite a roller coaster with Miss Lily Marie. The fabulous news is that she is doing GREAT right now!! On our last post we were very perplexed by the enormous amount of pain she was experiencing. Finally after 2 ENT visits, 1 GI Nurse Practitioner and 1 Pediatrician we had a breakthrough. I have learned through this whole experience to not be afraid to be a pain in the rear to the doctors! I call them all the time! The GI nurses and doctors know us very very well! I called the GI nurse and told her that Lily was in pain and on Tylenol 24 hours a day. The GI doctor heard that message and he finally made the decision to put her on Keflex. Within 24 hours Lily was a completely different baby. Praise God!

We think whatever infection that had invaded her body had been manifesting for longer than we realized..probably about 6 weeks. Lily had not gained weight in 6 weeks and over the coarse of that time she had stopped wanting to sit, put pressure on her legs, put pressure on her arms. Once on the antibiotic she gained 1 lb in 2 weeks, grew 1/2 inch and her head grew! After gettting off the Keflex - within 3 days it looked like her g-tube was having problems again. So she is back on Keflex for another course. This time we have been using some probiotics in her formula with the hopes of not killing off all of the good bacteria from the antibiotics. We have also changed brands of tubes for the second time. We are currently using a Nutraport tube. The tube is much flatter and fits snuggly against her skin. We are hoping this will help with all of her granulation that forms under the tube. We don't like the extensions that go with it - they are hard to pop in..but if the tube is better...we can deal!

Lots of other wonderful things are happening now that Lily is feeling better. She got her orthodics and when in PT she is standing (while assisted) and doing all sorts of fun things. Lily has to wear shoes with the orthodics. Her feet are still so small. We had a pair of Ava's old baby shoes that fit perfectly with the orthodics and socks. Seeing her with shoes on makes her look so much older than before.

Lily is consistently signing "more" and we are working on Mommy, Daddy, Eat, Drink and All done. She really doesn't seem too interested in signing..but we do it anyway. She loves to clap and is putting things in her mouth a lot. Both our OT and PT are working on Motor Planning and Fine Motor skills. Last week out of no where she started to pivot while sitting! She did it all on her own. We were thrilled! Lily is also trying to stack blocks and manipulate toys. We really feel like cognitively she knows what she is supposed to do with a lot of her toys!

Lily is also starting to be more affectionate with us. She cuddled with me at bedtime and I thought I was going to burst into tears! It was such a wonderful moment. Those small moments of wonderfulness makes all of the bad stuff go away.

We are very excited for the month of September. Jason, Lily and I are going to Boston for the 2nd annual 1p36 Deletion Conference. We cannot wait to meet the other families and other children and to hear the speakers. This trip has been made possible by all of the generosity of our amazing family and friends. Their support both financially and emotionally helps us each and every day.

Lastly - today something very exciting happened! A few weeks ago two of our therapists told me about some $$ that the state had available for people who attend conferences regarding their child's special need. They strongly encouraged us to apply for this grant. So- I applied for a fund called the Family Involvement Fund. It comes out of the Indiana Institute on Disability and Community. I found out this morning that we were given a nice grant to assist us toward the expenses of our trip! This will help so much! Now some of the money that we were going to be using for the trip can go towards additional services for Lily such as Hippo therapy(Physical Therapy with the use of a horse) and/or the purchase of equipment for Lily such as a new stroller, etc.

The older kids are going back to school. Ella started kindergarten and Nathan is in 2nd grade. Ava goes back to preschool in September. Lily has been so patient going from one back to school event to another. She sits for short times in her umbrella stroller which really makes quick trips much easier for Mommy! All the kids love pushing Lily which is also a big help!

Saturday, July 26, 2008

Teething Woes

Well, Lily is teething again. This time it is hitting her hard. She is no longer eating by mouth, her ear is bleeding off and on, her skin has gotten pretty bad and her g-tube site is a mess with granulation.

Poor baby is in so much pain. I took her to the GI doctor last Wednesday. They silver nitrated her tube site and she screamed in horrible pain crying great big huge tears. You know it hurt really badly- Lily never cries with tears unless it is really bad.

We had changed her tube ourselves for the first time last Monday. We think we did it right. That was quite an experience. Jason did the tube - I distracted her. It went very well. This knowledge is not really something we wanted to have - but it is necessary. We need to know how to do this - we cannot run to the doctor or hospital everytime it needs to be changed. Each time we learn a new "skill" like this I have various emotions. A lot of time anger that I don't know I have creeps up. I don't want to have to know how to stick someting in a hole in my baby's belly. I don't want to have to know how to burn her skin with chemicals. But what we want and what we have to do as parents does not always fall in line.

Also- her right ear has been bleeding periodically. It bleeds for a part of one day- like it is draining. We don't know what is causing it. We had not had a bleeding episode for 2 weeks. I took her to the ENT for a follow-up check-up last week and he said it looked good. The next day it started bleeding again. We have no idea of it is from the reflux, her tubes dislodging a bit or what....

All of this has set us back a bit in her growth and progress in therapy.

Things have been a bit overwhelming recently - especially with school starting soon and so much therapy and doctors appointments and school planning...we are all being pulled in so many directions.

I took her to our pediatrician today to have him look at all of her issues. He did a really great job with the silver nitrate. Hopefully this will help. We don't want her to be suffering anymore.

It is amazing that all of this is probably caused by her teething. When teething she creates more acid which in turn affects her tube and most likely her skin. The ear may or may not be a part of the teething - this is still a bit of a mystery. Hopefully the next time we post we will have move past this and on to something else more fun!

Saturday, July 12, 2008

Lily's Laugh

Nathan and Jason captured this precious moment with Lily. We had a ball. She has a beautiful smile and infectious laugh!

Thursday, July 10, 2008

Lily's Busy Summer

Lily with her brother and sisters and all of her cousins on Fourth of July!

Well, the pressure is on now with Jason's last post...I better get you all updated on our little Lily! Lily is now 14 months old (on July 14) We have had an amazing summer of achievements with her. The nutrition that Lily gets from her g-tube is really making a huge difference and we see changes in her everyday. In December when things got really bad and Lily stopped looking at us - it was like a light switch got turned off inside of her. Well - that light is definitely shining again and every smile and every laugh and every direct look at us warms us all over.

A few of Lily's accomplishments over the last couple of months include:

Gross and Fine Motor Development:

*Sitting for periods of time up to 10 minutes.

*Rolling, rolling and more rolling! Lily has figured out how to throw herself out of her sitting position and roll across the floor to get to what she wants. The problem with this is - Lily does not use her hands at all to stop herself from hitting her head. The therapists think she enjoys the stimulation that she gets when her head hits the floor. Ouch! I have read other places that many of the 1p36 kids have trouble with defensive reflexes.

*Assisted Standing. During PT our therapist has Lily stand against a bench. She does a very good job standing and does not fight it at all. For short periods of time she will stand unassisted - but leaning on the bench. Lily is also starting to put some weight on her feet in our laps on all the ground when you hold her up.

Her foot that turns out has been getting worse with the standing and so we will be getting some SMO's - small braces for her ankles that will fit inside her shoes. We actually got her measured for these today and our 5 year old daughter Ella helped pick out the design. Our state's early intervention program pays for one set of braces per year. This is a nice blessing as these are pretty pricey.

*Clapping - I started crying the day Lily clapped with me the first time. We were at a bbq at our friends house and Lily was laying on her back on a blanket in the shade. I was playing with her and clapping and saying "Yeah Lily!!" And then she just did it! I couldn't believe it. It was such a huge breakthrough for her to actually put her hands together and imitate what I was doing. Since that day Lily has started clapping and banging toys together. She doesn't do it every day and she doesn't always do it on command - but I don't care - she is doing it!! :)

*One afternoon in June I was able to get Lily to wave at me over and over again when saying "Bye Bye". She probably did it 10 times. Of course no one was home except me to witness it and I haven't really been able to get her to do it again.

*All Fours - We are struggling with the concept of all fours. Lily does not like to use her arms for anything. She especially does not like to put pressure on her hands. This last week while visiting my parents in Atlanta Lily started scooting forward using her legs. But she does not use her arms at all. The good news is that she is not arching as much to get places - she understands that she can get to her toys by moving forward. My homework for therapy this week is to try to work on getting her to use her arms more. We are supposed to hold things over her head so she has to reach for them and practice going in all fours.

*The ball. Lily loves bouncing on the exercise ball. It gives her a lot of stimulation that she enjoys. We can get her to do some things when on the ball that she will not do on the floor. She will use her arms and hands much better on the ball. I am absolutely terrible at holding her on that ball - it is so hard! I am telling you - the therapists have strong back muscles - I apparently do not! :)


Lily is still on 24 calorie Neocate. We are feeding her about 28oz per day through her g-tube. In June we began increasing her feedings slowing from 4oz per feeding to 6oz per feeding. Our biggest accomplishment over the last couple of months is that we have given up her nighttime feedings! Because she is taking more and more during the day - we do not have to hook her up on the pump overnight. The majority of Lily's feedings are during the day while she is awake. Typically, we give her one more feeding at night after she goes to sleep and before we go to bed.

*Putting things in her mouth like pretzels and graham cracker sticks. In May Lily was really fighting us on the eating by mouth. She spit out everything I would try to put in. She got really good at it too - many times I would have rice cereal or squash sprayed on me! Lily's biggest issue seemed to be the spoon coming at her mouth. She would grab it from us and want to hold it herself. Our speech/feeding therapist recommended trying foods that Lily could hold and put in her mouth herself. Because we suspect Lily is allergic to dairy and possibly soy - it limits us to non-baby foods. All of the typical baby hand foods contain milk powder and soy in them- crazy. Anyway - I found some pretzels and graham cracker sticks at Whole Foods that contained no fillers. Lily loved them. She loves the salt on the pretzels and the sweet on the graham sticks! She is her mommy's daughter!

We also have tried avocado, sweet potatoes, pasta, mashed carrot and potatoes. Now when I say "try" we are talking like the smallest amount you can imagine. But I still count it as trying.

Our biggest breakthrough has been just this week. Lily got a virus 2 weeks ago - throwing up and diarrhea. She had no appetite for about a week. Luckily with the tube I could feed her plenty of pedialyte so she didn't get dehydrated. We had to work back up to our 24 cal very slowly. Lily wanted nothing to do with any type of food by mouth - so we took a big break. I started up again just late last week. I fixed her rice cereal with pears. Not only did Lily let me feed her half of the bowl I fixed - she was opening her mouth for more!! We typically feed her by mouth 1-2x per day. The first feeding always goes much better than the subsequent ones.

*Taking water from a sippy cup - We use The First Years disposable cups. Our Speech Therapist recommended them because they are very easy for the kids to get liquid out of and the spout is soft and therefore nice for a teething mouth. They work great. Lily cannot hold the cups herself - although she is starting to try. Lily still has not figured out how to hold things with two hands and bring them up to her face. She tries to do it with one hand.


Uggghhhh Teething! It is really unfortunate that kids get 20-something teeth. We are about to get our 8th tooth and it is not going very well. This summer Lily has started struggling with her skin again. We don't know if it can be attributed to the weather or teething. I swear each time a tooth is about ready to pop through her whole body breaks out in a rash. She gets diarrhea, diaper rash, doesn't sleep well and grinds her teeth. The is like fingernails on a chalkboard. We try so hard to hand her something to put in her mouth each time she grinds. She actually has gotten better with this. I think the grinding peaked at tooth #6. I am sure there will be more teething stories to come - since we have 18 left to go.

* In May we switched from a large g-tube to a mini-button. This was a procedure that took her several days to recover from. Of course the doctor said she wouldn't even need Tylenol - that it should not have been painful. Well- not for us. Poor Lily wouldn't get on her belly for almost 1 week. That mini-button only lasted about 3 weeks. The mini is a fairly new button and does not have market share whatsoever. The nurse practitioner at our office recommended it and we didn't know any better so we ordered what she told us to. When we went in for a check-up - the NP took out the button and it was black on the inside. She decided we needed to change the button right then and there. It ended up being a huge ordeal - we ended up having to go to the hospital and get a Mic-key button. Yes - the two buttons are mic-key and mini buttons...

Anyway - the Mic-key has been around for years and is doing fine. The extension tubes are much easier to use and leak much less than the mini. So- for anyone out there trying to decide which route to go - our vote is Mic-key!


The last round of shots Lily received was in December when she was 7 months old. This is when she stopped looking at us and she got so miserably sick- literally within two days of the shots. We are very very hesitant to give her any more shots at this point in time. In general we are all for vaccinations. Our other 3 children have had all of their shots. We know that there is all sorts of research saying that shots do not cause autism. What we don't know is how shots affect certain kids with 1p36 deletion syndrome. No one can answer this question for me. I know that a lot of the 1p36 kids have gotten their vaccinations. But it seems that every child who has this syndrome is unique. One child may be fine with them - another may not. Lily has such issues with her gastrointestinal system. Each time she gets a virus - her skin completely freaks out. I have great reservations about putting live viruses - such as the MMR into her. I am sure there will be more on this later...

Happy First Birthday Lily!!

In May- Lily had her first birthday. We had a big birthday bash for her with over 70 people.
Before the party we had sent out an email to everyone letting them know that we were starting a savings account for Lily that would help with things such as the Boston 1p36 conference or certain therapy components, etc. Well, we never expected the overwhelming response we got. We received $1000 dollars in gifts for our sweet girl. We were humbled and overcome with emotion at how generous everyone was. This gift will enable us to come to Boston to meet other 1p36 families. We can never thank our friends and family enough for these gifts! You guys rock!!

Lastly, I want to mention one of our neighbors who needs an enormous amount of prayer. On July 5 in the middle of the night our 41 year old neighbor Becky suffered a massive stroke. She is currently in the ICU. She is a very strong individual and she is trying to come back to her children - 7 and 4 years old. She cannot speak and is having trouble moving her right side. She has made great strides in the last week. But still has a difficult journey ahead of her. We have a very tight neighborhood and our neighbors are an extension of our family.

Thank you all for all of your continuing prayers. We definitely need them!

Take care and God Bless. Julie

Friday, June 27, 2008

Coming Soon...

If you were to review all the historical posts on this blog... you would complete the task in about 3 minutes. That is because in order to review historical posts... there must be posts in the first place.

We will post more. We want to post more. We need to post more.

I am posting tonight as Julie is next door scrapbooking (at least that is where she says she is). I am committing us to write more often in this space not only for our friends, family and new 1p36 extended family... but for us! Julie is right, it is therapeutic to write and tell people about our sweet Lily. We both enjoy it... it's just the whole 3 other kids, laundry, breakfast, lunch, dinner, lawn, job, school, baseball, softball, soccer, grocery shopping, yadda, yadda, yadda-thing gets in the way.

Well... no more excuses. We need to be sharing the joys we have with Lily with everyone. She deserves it. We deserve it. Thus... from now on, you will see more posts! And more pictures of Lily cakes.

(Pretty easy for me to commit not only myself to writing more but commit Julie as well huh!? Well... that's what happens when you leave me alone with all 4 kids for your scrapbooking! Take that!)

We have a lot of ground to cover to catch-up on all the amazing things that have occurred with Lily and in our lives since our initial posts. We had Lily's first birthday, her first swim in the pool, the amazing progress she is making with her PT, OT, RD and ST, her new sunglasses, her chewing on pretzel sticks... and so much more.

They might be short in length, but they will be long in meaning and love. We hope you enjoy reading them as much as we will enjoy writing them.


God's Plan & Welcome to Holland

It's funny how sometimes it takes awhile for things to sink in... to process information... to understand why God dealt you the hand he did.

Each and every day Julie and I think about why God chose us to be the caregivers of our beautiful Lily. I don't understand it. Why us? Why not someone more capable, holy and worthy of such a gift? Obviously he chose us for a reason. Obviously he has a plan for us and Lily. We don't understand it... but we are honored to be her parents and thank him everyday for giving us her.

She is the most lovable and sweet baby I have ever met (and we have 3 other pretty darn sweet ones). I still have no idea what our future has in store for us on this journey with Lily... I just know that Julie and I will love and care for her unconditionally for the rest of her life.

We read a children's book to our kiddos called "God Gave Us You". That book inspired the URL of this blog. We will never understand God's Plan for us, but he dealt us this hand for a reason. We will make the best of it.

Below is a reading a friend of mine with a Special Needs child passed along to me when we learned of Lily's diagnosis. The goof-ball I am... I did not read it until tonight. It had an impact on me. I thought I would post it here for others to enjoy.

(BTW... the capable, holy and worthy reference above applies exclusively to me. Anyone who knows us realizes Julie is there but wonders about the knucklehead she married.)


Emily Perl Kingsley.
c1987 by Emily Perl Kingsley. All rights reserved

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland??
I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan.
They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

Tuesday, May 6, 2008

Our Story

Lily's 1st birthday is coming up soon on May 14. As her birthday approaches, I have been reflecting a lot on what we have been through this past year. So we decided to post the long version of "Our Story" prior to receiving Lily's diagnosis.

We wanted to give the background as to what the last 11.5 months have been like for our family for a few reasons. It will help everyone understand what we have been through and why we are dealing with our diagnosis the way we are. Also- we want to give as many details as possible - so that we may be able to help someone out there who is searching for answers. Lastly, it was pretty therapeutic to get it all out there.

We were thrilled when we found out we were expecting our 4th child. Our first 3 children were born in 3.5 years. So- we took a bit of a break from baby making after Ava was born - I was at my max! But we started longing for another baby and decided to expand our family again God willing. We had been trying to get pregnant for about 5 months when the blue line finally appeared on the test! I began making all sorts of plans for this baby. I knew I would be running around crazy with the three older ones - so I bought all sorts of slings and wraps to put the baby in. I planned on nursing her for at least a year if not longer. I had all sorts of dreams and plans for how our lives were going to be. So much for plans...

When Lily was born she was much smaller than our other 3 children. She had stopped growing between 34-36 weeks. She was born at 39 weeks. My pregnancy with her was pretty rough - I never stopped feeling sick or randomly throwing up. When she was born she had a "smashed foot" - which actually has a name (I don't know what it is). They called it a positional abnormality. Our son Nathan had the same thing - our pediatrician said he had never seen two kids from the same mom have the foot thing. Lily also had a little tiny hole near her tailbone. The doctors said it was hereditary and were not concerned.. Lily got good scores for her APGAR. Just very small - 5lbs 8oz , 17 1/2 inches. She was the size of our girls' baby dolls.

In the hospital I started noticing little things. Lily kept arching her back and rolling . She literally rolled over in the hospital. Also- her pooping was not right. She only had 1 decent meconium diaper and then did not poop again in the hospital. We were on major "poop watch" when we got home. She had the most foul smelling gas. I never remembered a breastfed newborn having any gas. Once she did poop - it never looked like breastfed baby poops. I mentioned all of this to the pediatrician - I believe it was noted but at the time they were not that concerned. What they were concerned about was Lily's weight progress. She was 5lbs 3oz when we left the hospital. She did not gain very quickly at all. The ped had me nursing her every 2 hours around the clock. Lily slept all of the time. She was impossible to wake up - let alone feed for long. The first 3 weeks were amazingly hard. She finally started gaining some weight at about 1 month.

Here is where the story gets even more interesting: The day we brought Lily home from the hospital my son Nathan got sick. He had a fever for 5 days. Finally we took him in - he had strep throat. My girls ended up getting it and then I got it. Then my girls got it again - and then Nathan again and me again. All in all - I had strep 4 times and my three older kids - 3x. All along I am nursing around the clock and continually on different antibiotics. In the middle of the strep craziness we took our summer vacation to Hilton Head. We ended up getting it on the trip - visited 2 emergency rooms and 1 Med Check. You see - you can get strep without the throat part and my girls had gotten a strep rash too. Luckily, Jason never got it - not once. Poor guy was continually taking care of sick people. I ended up being diagnosed as a strep carrier- put on a course of antibiotics for 6 weeks and the strep craze at our house was over.

At the same time all of this was going on - Lily started getting these horrible rashes all over her body. At first it started on her face like a severe case of baby acne. Then she had very very bad cradle cap. It moved to her arms, legs and chest. I thought for sure it had something to do with what I was eating. You see - the doctors all told me that the antibiotics I was taking for the strep was fine for Lily and breastfeeding. I believed them - I was too tired not to.

I took her to a pediatric allergist and had her allergy tested at 2 months old. Everything normal. But when I ate eggs - she projectile vomited - so I stopped eating eggs and she stopped vomiting. She continued to have awful stinky poops, was arching all of the time and rolling to one side, was not sleeping well, wanted to nurse constantly and was not acting like our others did at this age. Something interesting - before Lily got her 2 month shots she was growing well. She had rolls. She laughed and smiled a lot. After her shots - I feel like she slowly declined and her skin got worse.

We started seeing a dermatologist for her skin. She could not figure out what was wrong either. This was not typical eczema. Something else was causing it. She too ordered tests for allergies. Again all normal.

They tested Lily for Cystic Fibrosis with a Sweat Chloride test. Many of her symptoms matched this diagnosis. The test was negative.
When you feel that traditional medicine fails- you begin to go elsewhere. We took Lily to a holistic acupressure doctor. She did her own allergy testing in a very non-evasive way. We found that Lily had strong sensitivities to many foods including eggs, milk, soy, cinnamon, fish. She also had issues with dog, cat, elastic and wool. I gave up all of the foods until she could be desensitized by the acupressure. She did gain 1 lb in the month that I did this. We thought we had figured some things out. But she still was not meeting developmental milestones.

By November we knew we had to do something about her developmental delays. Right before Thanksgiving - when Lily was 6 months old I made the call to First Steps - our early intervention program. This was a very hard call for me to make. I felt like I was failing as a mother. Also in November - I was diagnosed with having hypothyroid. My TSH was an 8.0. No wonder I was severely depressed, always tired, extremely irritable, hair falling out in hand fulls and couldn't lose weight to save my life. I just thought that was what came with being a mother of 4 children! :) I felt broken on many different levels.

On December 3 - my birthday - Lily had an appointment with a pediatric GI. I had made this appointment over 3 months earlier - it took that long to get in. The GI doc took one look at Lily that day and her skin and he told me that we really needed to put her on Neocate formula. This is a hypoallergenic formula where the proteins are broken down into amino acids. He felt that she was sick on the inside from food sensitivities, antibiotics, poor nutrition and potentially silent reflux. He called her malnourished and malabsorbed. Basically - failure to thrive. He wanted me to cold turkey quit nursing - and pump if I wanted to. I left that office in a complete frenzy. I was in utter shock and tears started flowing. I am not typically an emotional person - this has definitely changed in the last year. That same day we had to get blood work done for the GI for Lily. Her little veins were so poor that they couldn't do it - 4 sticks later - no blood and a crying mommy. Needless to say - we are going to re-celebrate my birthday on June 3 this year!

So- the baby that I was planning to nurse for over a year had to be weened immediately at 7 months. She started the Neocate formula and took to the bottle and the formula amazingly well. She started gaining weight once we figured out her calorie needs.

We thought we had figured out what was wrong. But things only got worse. At her 7 month appointment they gave her - her 6 month shots. When she was 6 months I felt that she was too sick with her skin problems to get the shots. But at 7 months the ped. felt like she was ready. Two days after the shots - Lily stopped looking at us all together. She stopped smiling. She stopped laughing. She wanted to sleep all of the time. She was absolutely miserable. It was almost immediate. She got sick right after the shots. I took her to the pediatrician right before we left for our New Year's trip to Atlanta, GA to see my parents. He gave me the name of a developmental pediatrician. He did not say "Autism" - I asked the question and he could not answer either way. I think I cried almost the whole way to Atlanta. While we were gone- Lily had a horrible GI thing.And - when it rains - it pours. At the same time Lily was sick - I completely threw out my back. On the floor completely helpless - in more ways than one.

We started therapy in January. Lily was not rolling, not tolerating tummy time, not tracking anything, not making eye contact with people - she was miserable. She had 2 ear infections in January and was on antibiotics for both. Lily slowly but surely was eating less and less as well.

By February - the severe vomiting flu hit our house and everyone got it in the course of 1 week except - you guessed it - Jason. Lily got it and she just was not strong enough to fight it. On Valentines Day we brought her in and they took one look at her and sent us straight to the hospital. She was severely dehydrated. We were in the hospital 8 days that first visit. We had an MRI, Upper and Lower GI scopes, EEG, battery of blood work. Lily had to get an NG tube to get fluids in her because they couldn't get a vein for the IV. The GI's felt she had bad bacteria in her colon and the silent reflux was very painful for her. Now- I believe that God works in very mysterious ways - he knows what he is doing - even though we don't understand it. The weekend we went into the hospital was a big teen retreat called Destination Jesus with over 800 teens in one location. Jason is heavily involved with this weekend. Of course- he couldn't go - but we had so many people praying for Lily over that weekend. We could feel the love and support - and it gave us unbelievable strength while we were there.

During this hospital visit we met with the developmental pediatrician - Dr. Escobar. He surveyed Lily and ran a ton of tests. One of which was a chromosome test. He also talked about a special test that had to be sent away to Washington State - this test would take some time to come back.

When we left the hospital Lily was doing so much better. He skin had cleared up and she was eating! We had to continue to feed her around the clock overnight to get enough in her. She would only take about 4 oz at a time. Lily started doing better in therapy.

We had our follow-up appointment with Dr. Escobar. All of the tests came back normal - even her chromosome test. BUT - there was a problem. The special test that he really wanted to get back from Washington was somehow never sent. All that blood that we worked so hard to get in the hospital was not sent. Jason was livid. For some reason - it did not bother me. I honestly thought it would come back normal. God knew we were not ready yet to receive the diagnosis that awaited us. I know he knew I couldn't have handled it yet.

Then- Lily started teething and she got a cold. She was only eating 1-2oz at time. We spent all day everyday tracking how much she ate and trying to get her to eat. Jason developed an amazing Excel Spreadsheet that even the doctors were jealous of! :) Almost the only time Lily ate was when she was sleeping.

Holy Week 2008- The respiratory flu hit our house - about 1 month after the last flu. Nathan and I got it. I had a fever for 6 days. I couldn't get out of bed for at least 2 of them. I wore a mask at all times and was still having to help feed Lily. Jason was at his wits end. He was trying to do my job taking care of 4 kids and his job and take care of a baby who would not eat. It was probably the most stressful week of our lives. Lily got her feet washed on Holy Thursday - which was fantastic and very emotional for Jason who took her. On Holy Saturday night we had called the GI doctor on call. Lily was throwing up again. We knew we were going to end up back in the hospital - we got her to take some Pedalyte and made it to Easter Sunday. If possible - we really wanted our kids to have their Easter before everything turned upside down again. On Easter Sunday for the first time in my life - I did not get to go to Mass - I was too sick and Lily was not well either. Lily and I stayed home together. At 9pm on Easter Sunday we made the decision to take her back to the hospital. We knew they were going to put a feeding tube in her. It was the only thing left to do.

So- we spent another 6 days in the hospital and made the very hard decision of putting a feeding tube into our baby. Looking back - we had no idea what a difference the feeding tube would make in our life. Had we known - the decision would have been an easy one.

Lily took to the g-tube feedings right away. She kept down all of her food. We were feeding her 28-30oz a day. Nutrition is an amazing thing. Without it - the body goes into survival mode. Everything else suffers.

Three weeks after the g-tube procedure on April 7, 2008 I came home from a fun day at the park with the kids. I walked in the door - went to Jason's office and took one look at him and knew something was seriously wrong. He had gotten the call from the genetic counselor. Our test from Washington had finally come back. They gave us our diagnosis - 1p36 Deletion. Something we had never heard of. We were terrified.

As parents we dream for our kids and for ourselves of what life will be like when the kids get older. The first moments of hearing the diagnosis and learning a bit about it are horrifying. You immediately think about all of the things that your child will not get to do. You think about your own life and how you can possibly raise a child with special needs and three other children at the same time. You have the "in your face" realization that what you are dealing with is a lifelong thing - it isn't going to go away.

What happened though to us is that we had been struggling for 11 months prior to receiving Lily's diagnosis. We had had so much illness in our house. We had been "beaten down" and felt very out of control. We never knew what was coming next. So the news of the diagnosis - although devastating - provided us with a bit of a road map.

Today Lily is doing absolutely fantastic. She is sitting on her own for long periods of time. She is progressing in her therapy very well. Last week the therapists had her on her hands and knees unassisted for at least 30 seconds! Lily is gaining weight beautifully with her feeding tube. She is up to 19 pounds and is in the 25th percentile. There was a time when she was barely at 3%. We feel very blessed and know that all of the hundreds of prayers across the country, across different religions are lifting Lily up and helping her achieve great things. God is good. All the time.

We have learned amazing things about ourselves, our faith and our friends and family. We know that "Our story" has just begun.

Friday, April 11, 2008

Lily's Diagnosis

This is the letter we sent to family and friends about Lily's Diagnosis:

We have been on an eventful journey with our baby Lily's health this past year. Our biggest struggle has been not knowing what is causing all of her little problems. All of her tests that we had done including a Cystic Fibrosis, EEG, MRI and Chromosome test had come back normal. On Easter Sunday Lily decided she was not going to eat anymore and we landed back in the hospital for the 2nd time in as many months. They decided to put in a feeding g-tube to get her proper nutrition. The gastroenterologists really felt that her development and skin problems were due solely to nutrition and that this feeding tube would be our big answer. While Lily got the feeding tube she also had tubes put in her ears (due to multiple ear infections), she had an ABR hearing test and blood was taken for one final chromosome / genetic test.

Three weeks later - The feeding tube has truly been a blessing from God. Lily is growing, gaining weight and doing great in therapy. She gets 28 oz per day - which is about 11-12oz more than she would take orally. The other day she was on her hands and knees and she put weight on her feet with the help of the therapist! This is great progress! Feeding her orally has been quite a struggle - she just has no interest - but we are working with a speech therapist and an OT and we are making some little baby steps.

On Monday of this week we got a call from a genetic counselor who works with Dr. Escobar - our developmental geneticist doctor. The results of the final microarray chromosome test came back. Lily's test was abnormal. As you can imagine - we were quite shocked of these results and it has taken us a few days to truly understand what we are dealing with. We are going to try to explain this the best we can in an email. We are also going to put documents on our web site if you have interest in reading more about her genetic syndrome.

Lily has a chromosome deletion called 1p36 Deletion. This deletion happens in 1 in 5,000-10,000 babies. It is extremely rare. It has only been discovered in the last 5-7 years due to technology advances. Therefore there are hardly any documented / published cases of this deletion. We have been told that there are only 100 documented cases in the world (there are of course more people impacted by this deletion, but only 100 cases have been published in clinical publications). Only one official study exists and it was done on 60 kids. Most doctors have not even heard of this deletion as it is so newly discovered and many physicians have not had genetic training. Thus, not only will we need to educate friends and family, we will probably have to educate Lily's other doctors as well.

What this means is there is a small piece missing from the tip of her 1st chromosome (we all have 23 pairs). The "p" stands for "petite" and is the location on the chromosome - the small half. The "3" the "6" also designate where on the chromosome she is missing a piece. Again, her piece is the very tip. Every child that has this deletion has the break in a different place. Therefore, every child's symptoms are a bit different. Lily's deletion is considered mild to moderate. Her break-point location, for those of you who are clinical, is between 36.33 and 36.32. The test that discovered this is called a FISH test and is only done at the University of Washington.

If you search for "1p36 Deletion" on Google, it is a bit overwhelming. Because every child is so different, there is a very wide range of symptoms. A lot of children have seizures. Lily's EEG was normal so most likely she will not have seizures - Praise God! Children can have heart, kidney, thyroid, hearing and vision problems. They are also studying these kids ability to fight cancer cells - supposedly the 1p36 is a tumor-suppressant. So far Lily's vision and hearing tests have both come back normal!! We are very excited with this and will continue to monitor these because unfortunately they can change over time, although that is somewhat uncommon. We will be getting an Echo-cardiogram test next Friday for her heart and will also be having a kidney and thyroid test. Most of these children have eating issues, weight gain problems and developmental problems. Most of them never speak and use sign language to communicate. A lot of them have trouble walking - but not all.

What does this mean for us and Lily? Well, we are taking each day - day by day. We have seen great things in Lily over the last 11 months. She is most definitely a fighter. With the nutrition she is getting through the G-tube and the hypoallergenic Neocate formula. we have seen many developmental improvements. She can now sit up for several minutes un assisted and appears to be getting stronger every day. Because this deletion is so new - we cannot rely on the current data (no data really exists!) to tell us what Lily is going to be like. We can only do our best to help her succeed. And that is exactly what we are going to do! She is our sweet angel sent to us directly from God and we will treat her as such for her entire life.

She will continue all of her therapies - PT, OT, Speech, Nutrition. We will continue to test her to make sure all of her organs are functioning properly. We will most likely learn sign language as a family to communicate with her - but she may be the one kid who can speak. The best thing we can do for her is to try to be as positive as possible and not look too far into the future.

Now - don't get us wrong - we have shed many tears over this news and it has taken us a few days to accept this and come up with our "plan". We met with the genetic counselor and Dr. Escobar yesterday and feel good about moving forward. We realize our lives have changed forever this week, but we owe it to ourselves, our other children and, most importantly, Lily to keep moving on and live our lives, as a family, to the fullest. Our children are our most cherished blessings from God and we will do everything we can to protect them, raise them, teach them and love them.

With the support of all our family and friends, our Lord Jesus and the watchful eye of the Blessed Mother, we will prevail. Period. Lily will progress and give us new pleasures each and every day of her life.

In the words of Ella Grace, our 5-year old, when talking about how special Lily is and how much we will love her no matter what "It is OK to be different". Pretty profound from a 5-year old. We actually prefer "special" to "different" but Ella gets it and so do we. We love Lily so much. She is our special delivery from God.

Peace be with you,

Julie, Jason, Nathan, Ella, Ava and Lily