More info on her Chromosome 8 Deletion

After I begged for help, many of you forwarded this website, asked friends and family and kept the word going.

THANK YOU!!!

A friend of mine sent it to a friend of his who is in genetics. Some of this email makes my head spin, because I don't quite understand it, but some of it makes me understand my girl more.

Will,

I would definitely ask for a referral from one of Lilah's physicians to see a geneticist at Emory. Lilah's mother's feelings about this situation are completely warranted and normal. Genetics referrals can take time as well because there are not many geneticists in the state of Georgia. I don't know how much Lilah's mom understands about her test results, but basically Lilah is missing a section of chromosome 8 in everyone of her cells. The test is called a chromosome microarray test, and its purpose is to identify extra or missing pieces of chromosome. Chromosomes have two arms called "p" and "q" and the "q" in 8q21.11 tells us that the deleted section is missing from the q arm of chromosome 8. The numbers following the "q" in the description of the missing section of chromosome 8 describe the section's location on chromosome 8, similar to a map. I have personally seen multiple children in the pediatric genetics clinic in Arkansas who have had the chromosome microarray test. Sometimes this test allows geneticists to give a name to a condition and other times all we know is what genetic material is missing. Lilah's case seems to be the later, or in other words there are probably few, if any, individuals with the same exact deletion as Lilah. I did a quick search of the national medical database, and came up with multiple similar case reports but nothing that was exactly the same as her deletion. The geneticist at Emory could help make sure that Lilah gets all the appropriate care she requires, and will continue to follow up with her. Hope this helps.

Jacob

So, we do not have specific answers, but as I have guessed, and sometimes worried about.... it looks like Lilah is the first case documented.

I mentioned this to Dr. Sutherland, the cardiologist in Atlanta, and he said what Joey, Lilah's GaPines rep says too...Lilah may be the first case, but because I am putting all the information out there, I will help pave the way for other families who encounter this deletion. Not exactly what I had hoped for Lilah, but I suppose this is the path God has chosen for my very outgoing, outspoken, loud, tell-it-like-it-is self. Maybe God really is using me and Lilah in more ways than we could ever imagine.

Thank you for helping me...ALL of you. I will not quit. I will not give up. I will continue to fight, and fight, and fight...because that is who I am...I am Lilah's Mama.

Atlanta trip for Cardiologist and Post-op visit

Tuesday Morning Aaron and I were dreading the 11 hour drive that was in front of us the next day. We were so tired from work, home school, therapies, doctors...life that we actually began to think we should take money from savings and purchase tickets to fly to Atlanta. Well, God's timing is ALWAYS perfect...

Just minutes before we pressed the "purchase" button, Angel Flight called...

We had a flight!

A sweet man named Winn Baker had volunteered his time and his plane to take us to Atlanta for Lilah's appointments.

Wednesday morning arrived and I got up way too early. Nervous, scared, anxious, overcome with emotions, my brain woke me up at 3 am. I tried to go back to sleep. I wrapped myself up in the Prayer Shawl that SCC had given us. I was just too anxious. So, I got up and made my coffee and started doing laundry and talking to God. Before I knew it, I hadn't even gone for my run and it was getting close to time to wake the kids. I put my clothes on, tied my laces and ran before the sun. I just gave it all to God, and asked Him to help me to trust Him with today...as all days.

I came home, jumped in the shower, and hurried to get the kids dressed.

My sweet friend, Melanie C, offered to watch Alex, Sammie, and Eli for us while we were in Atlanta. THANK YOU, Melanie!!

Once we had the kids settled at Melanie's, we made our way through the Gulfstream traffic to Signature airport where we met Mr. Baker. He escorted us to his plane and Lilah and I made ourselves comfortable in the back while Aaron rode up front with Mr. Baker.

I, of all people, forgot my camera, so the images and video you see are taken from my phone.

Me and Lilah at take-off!

We went through a few rain storms, several clouds, some bumps, and the most beautiful rainbows.

Two rainbows! That is a promise from God (remember that verse in the Bible?!)

The left side of the plane was dark with the rainbows and the right side....

Beautiful!

God sure does paint us some gorgeous pictures, doesn't He?!!

Once we landed, we took a taxi to Sibley Heart Center at Children's Healthcare of Atlanta (Scottish Rite)

The first test they did was the ECG. (Electrocardiogram) Lilah cried when they placed the electrodes on her chest, but began smiling when they blew bubbles. Her favorite!

We spent almost an hour trying to find the "strips" from Lilah's surgery where the arrhythmia's were present. The nurse practitioner couldn't find the strips, so they decided to go ahead and do the ECHO cardiogram. This is an ultrasound of the heart. They look at each chamber's function and watch how her heart works.
Lilah's PDA(Patent Ductus Arteriosis) has closed. YAY! But, now she has an PFO(Patent Foram Ovale) She has a small hole in the atrial septum of her heart. 15% of us walk arounfd with this and have no idea. We also learned that they believe Lilah has PVCs (premature ventricular contractions) when she is at rest. Basically, when Lilah goes to sleep her heart beats differently than it would when she is awake. But otherwise, a "normal" functioning heart.

This is the theory. To confirm this, Lilah had a 24 hour heart monitor attached to her before we left Atlanta. The results of this will be determined once we send the monitor back, via UPS, tomorrow morning. The Cardiologist, Dr. Sutherland(SWEET man!!) will then go over all of it and let us know what his final outcome is.

Then we had about a 35 minute break. Our friends, Jennifer and Jason Reyes, picked us up and we ate a very quick bite at Chic Fil A before heading to Lilah's post-op appointment. Thank you Jenn and Jason for coming to meet us and spending a very quick trip with us! Miss you guys!

Next we went to Dr. Greenberg's office. He was very pleased with Lilah's positioning of her eye. He wants to see her back in January. I am to continue the patching....5 hours a day.He filled out the forms for her PSI(pre-school intervention) evaluation and we discussed what "legally blind" would be like in a "classroom" setting for her.

I remember when those words would sting me so bad, but you know...time has taught me, along with her other delays and needs, that some sight is better than no sight.

We called for the taxi and headed back to the airport to meet Mr. Baker.

Taking off...

and a little cat nap...
Mr. Baker flying the plane with Aaron next to him
We made it home JUST in time to go to SCC where we praised Jesus for His faithfulness and we helped our church family write scripture on the floors of the new elementary wing before the completion of construction...

Romans 15:13

Luke 7:22

Proverbs 3:5

The BEST part of Wednesday, was during the ECHO... CHOA(Children's Healthcare of Atlanta) is AMAZING! Seriously, Savannah could learn a LOT from them. During her ECHO, Lilah looked at the lights from the drop ceiling above. I went over and over the colors with her. Then, God spoke through my girl....watch this video and hear what happened...

That's right...

Lilah SAID, "purple, blue, orange, red, bubbles" and more...

Jesus spoke that day...and I heard Him in my baby girl, my miracle, my Lilah!

Such a good baby

Last night I was looking at pictures of a few friends who had just had infants. I was thinking how cute they are, look at that smile, look at that hair, look at those eyes, then I came across a picture of one where the few day old infant was screaming with her mouth wide open.

It hit me....

Lilah never cried like that. If so, very rarely. She didn't wail when she wanted to be nursed. She didn't scream, fuss, or make a lot of sound....for anything.

I would tell people how in tuned I was to her and I just knew what she wanted and needed.

But last night I got to thinking (yes, I know, not always a great thing) maybe Lilah has always been pretty non-verbal. Maybe I was so in shock with learning of her disability, at birth, that I missed something that most would have had a red flag for. Maybe because her "delays" kept appearing that I wasn't sure what was " a sign" or what was "normal" for a child with a visual impairment. Obviously as time has gone on we have learned that Lilah doesn't Just have a visual impairment. What we thought was the "biggest" thing against her, may now just be the smallest thing. What I thought was so hard, so rough, so, "oh my goodness my child is blind" really is nothing compared to what she fights against and is learning to do daily.

No baby comes with a manual when they are born. No child has a set of instructions that you know how to take care of them. But, most infants follow a path or a curve of learning, growing, changing, etc.

I wish I would have pushed harder at 9 weeks old when I had the first genetics test. That first test just told us she had all 46 chromosomes. It never mentioned a deletion. It never mentioned that she would be delayed. I breathed a sigh of relief after that test. Over a year later I have a "deletion" with no answers. No one can tell me if Lilah's deletion on her 8th chromosome means she will have heart problems, spinal problems, speech delays, mental delays, vision problems. No one can "fill me in" on my baby.

Is this God's way of slowly helping me love and appreciate her before sticking me with a massive diagnosis that will rock my world? I mean, I thought learning my newborn was blind was hard enough. With each milestone that passes, I learn that my child is more "delayed, disabled, different." Those three words fill her forms, her "labels" by this world that give us no clue as to who she really is.

I take Lilah to multiple therapies so she can learn to communicate with me. I take her to multiple therapies so I can help her walk, pick up items, put them back in baskets, things we all take so for granted. I have the deepest, strongest, rip my heart out of my chest NEED to help my child.

I would give anything to hear her say, "Mommy, I love you" or even, "I am mad at you" or "No, Mommy." Anything...I want to know how to help her. But, I don't get my wish just yet...I must wait...much longer than others.

What I would give to know she is OK. To see her "path" in this life and know that all of this is just a stepping stone to something greater. What I wouldn't do to know that she will live a long and healthy life. But, I don't know those things. I don't know one day to the next.

Tomorrow we go back to Atlanta to see not only her eye Doctor (Greenberg) for the follow-up post op, but we are also taking Lilah to see one of the top Cardiologists at Scottish Rite to run tests to find out why Lilah had two separate strips of arrhythmia's during surgery. As my mind races and I can barely sleep, I wonder what is in store for Lilah.

What else will we find she has? Or more honestly, will we finally learn something about Lilah?

I wish that Savannah had better specialists. I wish that our town wasn't a "good ole boy" cover each other's rear ends. I wish that we had more resources, but we don't. So, off to Atlanta we go. Bright and early tomorrow morning.

One more time we must leave our older children in the care of others as we take Lilah for more tests, more doctors. One more time I am filled with guilt, fear, grief, questions, what ifs, etc.

Once again, I must lay all of my burdens at the feet of Jesus and tell Him how all of this hurts. Once more I will beg Him to give us good news and answers. Once more I must learn to trust Him even though I do not understand why. Once more I will try to stay as close to Him as possible.

Even in the midst of all of this uncertainty, one thing remains true..Lilah is such a gift. She is a precious child of God and she melts the hearts of those who meet her. She really is a good baby.

Guess I shouldn't say that any longer, seeing as she will be 3 soon...

She really is an amazing child!

Now, that's better...and much more appropriate.

Morning Lilah!

I hear her in the monitor...singing.

She will "ahhh, oooo, ssssshhh" to herself.

Then, I walk into her room and say, "Good morning, Lilah!"
Then she sits up and sings to me in person.
Then she plays, "Where's Lilah?"
There she is....
Clicking and clucking ...

Happy as can be. I adore my girl...more than you could ever know.

A first for her...and me

With all the changes and issues we had with insurance, medicaid, SSI, etc. We found out that Backus no longer allows co-treating for therapies. Or, maybe that the insurances will only pay the therapists if they do one-on-ones. Either way today marks a big day for Lilah...and me.

Today Lilah's therapies will be back to back hour long sessions. Today, Lilah will have OT, PT, ST in that order from 9-12.

Today I will walk her in , see her get started then I will leave...leave, man, that word...I don't do this often....

But, I felt God tell me that not only does she need me to give her this time to learn and not have me, the crutch, there, but also I need to focus this time on the older three and what we want to accomplish and learn with homeschooling.

I know she is in great hands. I know she will do fine and yes, I will be very close by incase of an emergency. And yes, I am very emotional about it all.

So, before I pour my heart out again, and get more criticism for my heart, I will hold my tears in and get going for my run so I can get everyone dressed and ready for the hour drive...oh the joys of morning traffic.

So, say a little prayer for her( and for me) as a new chapter of independence begins.

Blessing

Please click HERE!

Lilah saying her name. This is HUGE!

Listen to this:

Thank you, Jesus for this blessing!

Globally Delayed

As I sit here, watching my almost 3 year old crawl around the house. I am overwhelmed with many emotions. (As I am on most days)

I often wonder if I am either not accepting of my child, or if I am still in such grief over her "diagnoses", or if because we still have NO answers on what she has...and each month her "delays" become bigger, more obvious, etc...I get sad. There it is. Truth. I get flat out sad because my child doesn't talk, walk, dance, jump, see like "normal" three year old children. Let's be honest. Let me lay it out for you what her delays are really like...

Lilah will be 3 on November 25. Most two year old children are running all over their homes, driving their Mommies crazy, pulling things out of cabinets, climbing up on counter tops, trying things and exploring, they say the darnedest things, run all over parking lots, etc. My baby doesn't do these things. Yes, she empties my cabinets for me and when she does..I LOVE it. It means her brain is working, moving, and growing. I see posts on Facebook of Mothers who complain about those toddler incidents and my heart hurts for them. Their child may be driving them up the wall with the crazy antics, but at least their child CAN do those things.

Lilah is at a 9-12 month level. Just typing that out is hard. Where her peers are doing all kinds of things, even the boy who was born the day after her is skate boarding, her cousin who is over a year younger started school, soccer, etc....my girl isn't. My girl is trying SO hard to learn those skills.

Read this part very close: I. AM. GRATEFUL for my child. I love her SO much. More than you could EVER fathom!

I just need to be honest that I am still grieving the "loss of the dream" that I had for my child. I had NO warning about Lilah's delays. Every test we had said, "normal fetus." What I hold in my arms is not "normal." I feel as if I am learning her and me each day. I feel like we had no prepare time. We learn about her each day. Each day we see what she can do, or cannot do. We see what she needs and how she needs it. My roller coaster of life is not a tad bumpy. No, I have STEEP highs and valley lows.

I cannot help but feel sad. I KNOW, yes, I do know...that Lilah does NOT know any different. She is SO happy. She loves and adores life. She brings SUCH joy to all who meet her. Her smile will melt your heart. Seriously. I am not just saying this as a biased Mommy. Lilah is amazing. Some days I wish "I" didn't know she was delayed. I wish I wasn't "aware" of it. The harder I push and fight for services and help for her, the more exhausted I become, the lonelier I feel. THIS. Life. Is. NOT. easy. I feel like I need a T-shirt that says, "Warning: Mom of a special needs child. Careful not to make me mad, I never take my gloves off and I will win this fight!" ok, maybe that was a little rough, but it is the truth. I live in a constant state of fighting. I get NO repsite time. The few times I get to get away (sing in the choir, photograph other families, etc) I come home to MORE to do.

Yes, I remind myself, blog my feelings for the world to see, etc. I believe the only way to healing is to get it out, work through the emotions and then complete the circle to gain perspective.

Wednesday morning an 11 year old boy was killed by a hit and run driver in my town. I cannot begin to understand their grief and pain. As I pray for them and ask God to comfort them in a time of such despair....I hold all 4 of my precious babies so close. I thank God for each one of them. I thank God for my friends, family, and SCC family who love us as we are, who reach out to me when I don't know how to ask for help, and allow me to cry. There will never be a "fix" for Lilah, so the most supportive thing for me right now is a person who loves me without judgement, and open ear that will not tell me "how" to feel.

Having a child with "global delays" means that everything is on a much slower level. If you "google it" you will see that globally delayed is a new term that replaces that AWFUL "R" word. So, when you use that 'R" word for something, change it in your brain. Does, "Am I globally delayed?" sound funny now that you realize how it affects someone that you know? love? pray for? think of?

Lilah is "Globally Delayed."

Please HELP!!

During Lilah's surgery, ,which went very well, there was quite a concern on Lilah's irregular heartbeat. This has never happened to her before under anesthesia. We saw a cardiologist in 2009 who ran all the tests and they showed a slight PDA. But never have we heard anything about irregular heartbeats. The Anesthesiologist was very concerned because she said that it wasn't just one line of irregular beats, it was two. She brought us the strip and said Lilah needs to be seen by the specialists in Atlanta for her heart. I asked Dr. Greenberg if we should follow up with her cardiologist in Savannah and he said, "if one of my children had issues with their heart, I would want them to see the specialists here. There are the best almost world wide."

All of this time having Lilah I have said that I would fight and fight for her. I wanted to know everything there was to know about her, so I could help her live a better, more quality filled life. Now, there could be an issue that could affect the QUANTITY of her life. Help me. Please!

Here is the link to Lilah's genetic information. The deletion on her 8th chromosome.

Click Here or see above picture. Please share this link, picture, etc. I need answers.

I NEED to know. I need to know if her condition...whatever it is will affect how long she may survive. I need to know if there is a possibility that my child may not survive past a certain age.

I. Need. To. Know!

I cannot beg for help enough. I am prepared to drive all of the country, take our children, homeschool in the car, whatever until we know. I am so tired of the SLOWvannah answers. Sorry to be brutally honest, but I am. Someone PLEASE help me!

Just the idea of the fact that my girl may not be here long enough to see or do something makes me sick to my stomach. I am dying inside. So many of you think I am so strong, but I am not. Far, far, far from it.

I am crying as I type this. I am powerless over all of this. I cannot control how long my child may live, the quality of her life, the stares she gets, how delayed she is, how HARD this is.

When I lean on the truth in the Bible it says, " Trust in the Lord with all your heart." Proverbs 3:5

Right now I am having such a hard time trusting. God, please give me some answers. Equip me with the means and knowledge to help Lilah. I am so far in the valley of fear right now. I need physical help. Help to find answers, help to fight Medicaid, SSI, therapies, help to continue to do this. I am exhausted emotionally and physically. Is this my "new normal?" Will I forever be this exhausted?

Learning this week that Lilah's AFO braces were not correct for her feet, that I should have had them on her ALL the time, that we have no more visits per insurance for therapy, that she doesn't qualify for more because we make too much, learning that if we quit our jobs that our child would get MORE(ok USA, that is beyond messed up!) I am quite fed up!!

I need prayer. But, Lilah needs it more. I need help finding answers about Lilah. I need help with Medicaid, SSI, Katie Beckett, Easter seals, etc, etc, etc, etc. I am but ONE woman. I. Need. Help. Please!

I don't ask for help often. I suck at it. So, here I am...begging for it. Please help me find answers. Please first and foremost take her genetics information to everyone you know and pass it along. Please someone tell me what it is that she has. Please someone tell me what I need to know about my child. Please someone help me fill out form after form. I need someone who will be willing to watch my kids, the older three, without yelling and screaming and spanking them because they are tired and don't know how to control them like I do. (If you cannot watch my children, please do not offer it) Please someone love me, and us, in the valley. I need you there. I know I can be a lot to handle sometimes. Please. Don't. Walk. Away. From. Me. I need you. I may not say it, because I just don't know how somedays filled with such emotions. My time in Holland, although gorgeous, has been a never ending roller coaster with the largest dips. I cannot do this alone. I am drowning in it doing it by myself. Please help me.