Lucy's 6th Month March 17, 2012 to April 17, 2012 (Diagnosis Month)
I took this video the day Lucy turned 5 months old. When I look at it now. I can't believe she did it! We don't even try things like this now. This video was taken on March 17th. In the period of time where we thought that her bones were normal.
I love these precious pictures of Lucy! It looks like its another day, but really she has probably just had her 4th or 5th wardrobe change. Her reflux is still pretty bad :(
On the 19th, we received a call that the test for Cartilage Hair Hypoplasia was normal. So no we know nothing new. We carry on. On the 22nd, Lucy rolled from belly to back in both directions!!!
This week starts spring break, which really doesn't mean much to us since our kids are in daycare, but it starts a week of themed days. (Oh, joy for mom and dad) It actually wasn't so bad and Ella had a lot of fun.
The next day, the 29th, I received a call from Delaware. I posted this on Caring Bridge:
I received a call from our Geneticist, Dr. Bober, yesterday. The conversation went like this:
Dr. Bober: Mrs. Slye, I think we have reached a stopping point. We posted Lucy's records on a "listserve" for experts all over the world to look at, and honestly, we got a lot of "I don't knows", but there was one radiologist in Japan that made a suggestion."
Me: OK
Dr. Bober: He thought that it was possible that she might have osteogenesis imperfecta type 5, or hyperplastic callus type.
(Then he goes into a long narrative of why he thought she might have it....I wont bore you with all of that.)
Dr. Bober: "I spoke to the physician that originally discovered this type of OI today, Dr. Glorioux, and we discussed Lucy at length. He agrees that if she doesn't have this, then she has Lucy-dysplasia."
So...I wanted to write it out like that, because we are not sure we have a diagnosis, but this is the closest we have ever been. He cautioned me that the only reason that he is hesitant in diagnosing her with OI type 5, is because of her spine. There is no published case of a type 5 having cervical kyphosis. This could mean that others have had it but it corrected itself before the person was diagnosed, or Lucy might have had a break in the vertebrae of her neck that cant be seen in an x-ray. He told me that type 5 is a mild to moderate type of OI, but I have read that it could be moderate to severe. I think that there is a lot of variability in the gene mutations that cause OI...so I don't think that can be nailed down. The good news, I suppose, is that there is a treatment (if you qualify), that can strengthen your bones. The bad news is. She definitely could be predisposed to more fractures and if she every needs surgery on her spine the list of potential complications is more I care to write about. I really wanted to share what we've learned, but to be honest I'm a little (read alot) nauseous about it. This is one of the skeletal dysplasia's that I was not prepared for. It was practically ruled out at first. I was really strong for the first couple of hours...but that strength is dwindling. The Lord continues to keep me at the foot of the cross. Now, I will be there as long as Lucy lives. I know too, that He will renew my strength. We should hold desperate intercession for our children in all circumstances. I am gently reminded of that every time a say a prayer for Lucy and forget about Ella. We are not promised tomorrow with our children. Oh Father forgive me! The Lord had brought us through so much. The journey we are on is FULL of His refining. Through all of the highs and lows, He has been there. I have felt His presence, His peace, His comfort when I am distraught. I have known the overwhelming joy of unexpected outcomes, the kindness of family, friends, and complete strangers. The tenderness of my daughters precious heart and the love between sister's that will make you cry just watching it. All that...and we are just getting started. In the book of James, he says “Dear brothers and sisters, whenever trouble comes your way, let it be an opportunity for joy. For when your faith is tested, your endurance has a chance to grow. So let it grow, for when your endurance is fully developed, you will be strong in character and ready for anything.”
The next day, the 30th, we had a barium swallow scheduled. Even though we were told that Lucy may not have Osteogenesis Imperfecta, I still told the technicians to be extremely cautious with her and treat her as though she did. They spent 15 minutes trying to get her to swallow the barium through a bottle. All the while taking x-rays....at least 30 or 40. She sounded like she was drowning. It was horrible. After all that, I was crying and Lucy was screaming. I asked them how much she swallowed. They looked at the bottle and said 1/2 an OUNCE. Not even an OUNCE!! SO, of course the study came back inconclusive. She did not show signs of reflux during the procedure. Lots of radiation exposure .... for nothing. Gaaahhh!
She's always happy and it was so fun to make her giggle, but clearly she still has reflux:
My big girl, makes ME giggle all the time:
We spent the better part of Good Friday...resting. Nothin' says lovin' like nap time with Daddy!
Look, there's beautiful Mrs. Wendy!! She one of the members of "Team Lucy" at church. We are so thankful for her. Lucy loves her. She is the only one that can get Lucy to fall asleep on her chest. She wont even do that for me!
The Easter Bunny was pretty good to both girls. Even he knew who's day we were REALLY celebrating! He left the girls both Easter books telling them that today was really ALL about Jesus! We quickly got dressed and headed to church!
I really do hate all the running we do on the holidays, but I wouldn't trade this time with my family for anything! Sunday afternoon at MeeMaw's house in Tuscaloosa:
It was an absolutely wonderful time....well spent with family! Celebrating the greatest gift we could EVER receive, GRACE! Christ died for our sins so that we would not be separated from God by our sin and could spend eternity with Him in heaven. If He had stayed in the grave it would have meant nothing. We would have nothing to celebrate. But, He rose from the dead! He sits on the throne in heaven and prepares a place for us in Glory!! All we have to do is give Him our lives in return. What a small price to pay! How great a reward! Each and every day is a blessing...no matter how stressful things may get, I look at the two miracles the Lord entrusted to me and I feel loved and rewarded already!
April 9th is Ella's birthday! She turned 4! She is growing up to fast! We had a small birthday celebration at school, since her party was still a couple of weeks away.
Milestones: - Can now roll all the way across the room and turn in a circle. - Sleeping through the night now and is in a great routine. - Has gotten used to the spoon and you look like a baby bird waiting on your food.So cute! Prefers fruits – shocker! - Constantly wants to sit or stand.Really strong! - Rode in a bucket swing for the 1st time! - So happy on her tummy now! - Can play in the exersauser without padding. - Squeals when you wake her up in the morning! - Can get her toes in her mouth now. - Got OI type 5 diagnosis possibly. - Reflux is much better now. - Loves oatmeal, not rice cereal, and bananas.
Our smart, sweet, compassionate and funny "big girl".
Lucy - 5 months
Our pint-sized princess! A little miracle! She is always happy. She has been diagnosed with Osteogenisis Imperfecta type V, also known as Brittle Bone Disease. She is just beginning her journey and she is already redefining expectations!
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