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


Angie said...

Jason & Julie and family,

I felt like I was reading my blog about Alayna. I completely understand the emotions you are all dealing with right now. However, it sounds like Lily is doing great and progessing in the right direction. Even though you didn't have a diagnosis until recently, as parents you got her the services she needs and provide the love that she embraces. Hats off to you! Your other three children are blessings to Lily and will help her in so many ways. And not only will Lily learn from them, they will in turn learn from Lily. I think siblings of special children have a unique, kindness about their heart. It truly opens their eyes to an otherwise unfamiliar world. My older three children have blown me away with their comments like your little 5 year old. It is amazing how much they comprehend the situations put before them. I'm sure your kids just absolutely adore Lily. It seems like these kids have this neat attraction about them and my kids can't get enough of Alayna. I'm glad you found Alayna's blog and I found yours. God does work wonders. Our faith is what gets us through. God holds the ultimate plan for each of us, including Lily and Alayna, and they will be the people he intended them to be. I look forward to watching Lily grow up and hopefully Alayna can meet her someday in person. I will read your blog faithfully!

Angie said...

OH, I hope you don't mind, but I added you as a link on my blog. My family really enjoys seeing the other kids. I have a twin sister who tried to leave a comment on your blog, but had a hard time because she doesn't have an account set up. If you want to allow anyone to comment you have to change the setting in the blog itself. I didn't know that until a friend of mine told me. Some people chose to limit the comments, but I just open it to anyone. Let me know if you'd prefer for me to take it off the blog. I don't mind you using our blog as a link either! :)

Julie and Jason said...


Hello!!! Thanks for your comments. We don't mind having our link on your blog... we will put yours on ours as well. We are very excited about chatting with you further. Thank you for all your kind thoughts and support.


Anonymous said...

Hello Julie, Jason and family:

I'm reading your blog through the DeKeyrel family. I am a friend of the DeKeyrel's and love to support their blog and family and thought I would do the same for you all. You have a beautiful daughter with Lily. It is quite eerie how much alike you and the DeKeyrel family seem to be. I believe God blesses special people. You all must be pretty special. My whole family is from Indiana. Ranges from East Chicago, Gary, Hammond, Schererville, Munster, and Greenwood. Where are you all from?

May God bless you all,

Megan, Bill, Alayna(4) & Alexa (2) Sutton

Kajsa Farnsworth said...

Hello Lily and family,
I left you a note through the Yahoo group but wanted to introduce myself here as well. I am so glad you found Nate's & Angie's blogs. They have both been a tremendous help to our family as well.
Lily is just beautiful and it sounds like she is doing incredibly well. Good luck on your journey and please don't hesitate to ask the group for advice or share some of your own. Those parents are the best! I will leave our blog link at the bottom too. Take care!
Kajsa, Troy and Brady Farnsworth

atroutt said...

My daughter also had her first chromosome test come back negative. We have not met anyone else who had this happen. She also had the fish test done. Our daughter is eleven months old also. Do you know large of a peice was missing, did they give you an exact measurement? We felt and still feel the exact same way as you, I still get sad sometimes. Our daughters truely are blessings sent from God and I fell honored to be chosen to be her mother. I am sure you feel the same way. Please write me sometime I would love to talk to you!

Nana Cherryl said...

Dear Angel Lily - I see the progress you are making every time I see you - and it warms my heart so much!!! I can hardly wait to see you crawl and then walk and hear your vocalizations become recognizable words like Mama, Dada and Nana ! I am so thrilled when you actuallly LOOK at me!!d I am so thankful to my friends Kim and especially Marilyn who educated me and your mom and dad on who they should call to get the early intervention assessment and treatments started long before there was an actual diagnosis. The OT, PT, speech and nutrition therapists are awesome. To any parents reading this blog who have a developmentally delayed child, please know that there are services out there that are of tremendous value to your child, regardless of diagnosis. And they are already paid for by your tax dollars. Lily has a tremendous family, and her family has wonderful friends and families supporting them. We are all pulling and praying for Lily every day. Love, Nana Cherryl

Erin Reilly Lewis said...

Julie and Jason,
I stumbled upon this from your sister's facebook page. I read through your posts and wanted to say that Lily is blessed to have such wonderful parents. I hope all of you have a wonderful spring and summer -- always good to catch up with some old Our Lady of Grace'rs. :)
All the best - Erin Reilly Lewis