Monday, December 17, 2012

An Update on our Daughter

Where to start. Hmm. How does one start a post like this? I guess I’ll start with my precious girl. Kinsley is the best baby ever. Her daddy and I tell her so often. She has the prettiest blue eyes and longest eye lashes I’ve ever seen on a girl (thanks to her daddy!) When she smiles my heart melts and nothing can bother me in that moment. Her giggle is something for which I am willing to be as silly as possible for without any possible embarrassment hindering me. She loves to be sung to, but only if you know the right songs (“Head and Shoulders, Knees and Toes”, “London Bridge is Falling Down”, and “Jesus Loves the Little Children” are a few good ones in case you were wondering). Kinsley thinks swinging, going outside, and the iPad are some of the best pastimes around. She has a snail toy, turtle toy and a teapot which we would be lost without because they can seemingly entertain her endlessly. Kinsley is the best baby ever. Period.

That being said, I wanted to let everyone who is interested in on what is happening with our precious girl. At around six-seven months old I started to be concerned that Kinsley wasn’t meeting all of her milestones like she is “supposed to”. She was able to roll over belly to back and back to belly, but was not sitting up on her own nor did she bear any weight on her arms while she was lying on her belly. Also, I have a dear friend whose baby was receiving physical therapy at the time and she was explaining to me why she was getting it. She talked about low muscle tone, something I didn’t understand, but when explained, seemed to describe Kinsley in some ways. I took her to her pediatrician at the beginning of August suggesting that I thought she may need to go to physical therapy. He did not seem too concerned, but he did feel her trunk muscles were weak and that physical therapy and occupational therapy evaluations would be helpful for finding out if we needed help with everything or not. They way things go in the medical world it took a few weeks to get the first evaluation, but the day after her 8 month birthday she had a physical therapy evaluation. We spent about an hour with a wonderful therapist who worked well with Kinsley and tested her in many gross motor skills. At the end of the evaluation she explained that Kinsley did indeed have low muscle tone in her trunk muscles. She also noted that it seemed Kinsley had high muscle tone in her legs. She further explained that tone was something triggered by the brain and that for some unknown reason Kinsley’s brain was sending the wrong signals to her muscles on how to work. 

Of course this was somewhat shocking and rather concerning to me and later, to Luke. We had had no indication up until then that there may be something “wrong” with our little girl. The therapist suggested some possibilities about what may be causing the tone issues, but also said there would be no way to know for certain until we met with a neurologist and began some testing and that even then we may never find a cause. At that point we worried and prayed a lot, but held on to the hope that this could be something she would work on in therapy and eventually outgrow.


To make a very long story only slightly less long I’ll sum up the next few months. Kinsley had an occupational therapy evaluation next and qualified to receive therapy there as well to work on fine motor skills. We met with a neurologist at the end of September and he suggested some routine tests for kids with developmental delays. We had an EEG done that day which came back abnormal. She was, thankfully, not having seizures, but she did show some brain wave patterns consistent with development delays. Once again, not good news, but nothing surprising and nothing really noteworthy. We then had to wait over a month for an MRI to get some pictures of her brain. We had to go to Arkansas Children’s Hospital for the MRI and Kinsley was sedated for the procedure. Not a fun day for us, but we made it through and she was a real trooper. The next hard part was the waiting. We waited weeks, right up till two days before Thanksgiving, to meet with the neurologist to receive the results.

As much as you try to prepare yourself for bad news it is still horrible to experience it. Our appointment with the neurologist did not go well. Without going into detail I will just tell you we will not be seeing him again as he was not very professional. However, he did inform us that Kinsley’s MRI showed symptoms of a couple of rare genetic disorders called Walker-Warburg Syndrome and Muscle-Eye-Brain Disease. She has several problems with her brain including cerebellar cysts, a cobblestone effect in the back of her brain called Type II lissencephaly, a lack of myelination in areas among other things. Of course we knew nothing of what those things meant at the time and we don’t know much more as of now. Each of the syndromes is a form of congenital muscular dystrophy and affects the muscles, eyes and brain (as the one name would suggest). If you try to Google these syndromes you won’t find a ton of information, but you will find a lot of horror stories and bad news. The neurologist did not give us any details, but just repeated over and over how our daughter would need a lot of care for the rest of her life (as if we would ever consider throwing her out or something) and suggested we see a geneticist. So all we had were a few names and a bad MRI to go on. We went home and used Dr. Google to try to better understand what we were facing. Like I said before, you can see a lot of bad things online suggesting a shortened life expectancy from death before a year in the worst cases to death in childhood in other cases and in the best cases living up to 70 years. You will also read about the likelihood of the child having profound mental retardation due to the problems with the brain’s development. It’s devastating news, to say the least. It is very hard to even type those words.


So where did that leave us? We had nothing concrete to go on and our “amazing” neurologist had scheduled an appointment with a geneticist in Little Rock for the end of February. Of course we did not want to wait that long to see one, so we called our pediatrician and since he actually IS amazing he got us an appointment with the very same geneticist the very next week. Preparing for a difficult appointment, we made our way down to Little Rock on November 28. There we met with a geneticist and a genetic counselor. These very kind and knowledgeable ladies were much more helpful than our neurologist (thankfully!). First, I should mention that we do not have confirmation yet about whether or not she has one of these syndromes, but I would say it is very likely based on the MRI and her symptoms of low tone and delayed milestones. They drew blood from Kinsley while we were there to do some genetic testing to try to confirm her condition. This may take up to six months.

What was good about the appointment was their willingness to explain. They did not give us any new news about Kinsley’s condition, but the were much better about explaining things and answering our questions. They reassured us that we had no reason to fear Kinsley passing away anytime soon as she is a very healthy little girl (she’s never even had a fever!). They also explained that these two syndromes which are similar to one another are on a spectrum of severity and at this point we have no way of knowing for sure how affected Kinsley will be, but we can be positive about the possibilities considering how healthy she is and how well she has responded to therapy and has made progress in her motor skills. They set no limits on Kinsley, but we were given some expectations to be realistic about. They said we should be positive about Kinsley continuing to gain motor control which is a good thing. Many children with WWS cannot even hold their heads up and with MEB many never sit up, crawl or walk. At this point Kinsley can roll over and sit unassisted and she continues to make progress each week in her therapy sessions along with help from me at home.


We were cautioned that we could expect some communication problems. They suggested she may never speak (as many children cannot with these syndromes), but that we may have to teach her alternate forms of communication like signing or using communication devices. As of now Kinsley cannot say any words and she does not understand any words yet. This is something we are choosing to leave up to God and we pray fervently that he will open her mind to begin to understand us. She is supposed to have a speech evaluation soon and will hopefully begin speech and language therapy after the new year.

Beyond that we do not know what to expect. Our goal is to not set limits in our minds about what she will or will not be able to do while at the same time maintaining a realistic awareness that this will affect her for the rest of her life. We are choosing to just live one day at a time and enjoy Kinsley as she is and not worry about the future. We know no one is promised a future and if we lived in fear of what that could be, we would never enjoy the present. So, right now we are continuing with her therapies and praying for the best. Kinsley currently receives physical therapy twice a week to work on gross motor skills, occupational therapy twice a week to work on fine motor skills and development therapy once a week which combines working on physical, social and cognitive skills all in one. Each of Kinsley’s therapists talks about how well she is doing and how she makes good progress each week. Within weeks of beginning therapy she was able to sit unassisted. We are maintaining a positive hope that she will walk eventually. Her physical therapist believes at the rate she is going now we should see that happen within the next year! Her developmental therapist is greatly encouraged by Kinsley’s ability to play with toys appropriately. She understands the cause and effect of how to make them work which is a great sign for cognitive skills. And in occupational therapy she has learned how to reach away from her body to grab things she’s interested in. She can also bang two objects together now! Next step will be clapping! To some this progress may seem small or slow, but for us they are all huge and we thank God for them each day.


For Kinsley, maintaining good health and continuing to make developmental progress are the two biggest prayers we need right now. If you are (still) reading this and are a person of prayer, please add our sweet Kinsley to your permanent prayer list. With her brain issues, she is at an increased risk of having seizures. Thankfully she has not shown any symptoms of that at this point. We DO NOT want this to begin as seizures can further affect her development by hurting her brain more than it already is and by causing regression in areas she has made gains in. Please pray for this not to happen. Pray also for her therapies to continue to help and for her to continue to work hard at them and try to enjoy it more (she is not really a fan of therapy since it requires her to work her body out and who enjoys that!?). And, please pray for her Mommy and Daddy to remain positive, and have peace and acceptance of this new way of life for us. Some days are easier to do that than others.


We know God has a plan for our sweet girl and for us all. We did not foresee this in any way, but we know God gave us this special girl for a reason and we want to fulfill his will for us all in raising her as he would have us to. Something I’ve tried to focus on through all of this are the words of God from Jeremiah 29:11:
“‘For I know the plans I have for you,’ declares the Lord, ‘Plans to prosper you and not to harm you, plans to give you a hope and a future.’”
I’ve turned to this verse so often in my life when I didn’t understand what was happening or why it was since it wasn’t according to MY plan, but like the verse says things don’t always go according to MY plan. I will live according to God’s plan and that’s a good thing since he plans to prosper us, even in this difficult time. Now, please pray that I always remember that!
Well, if you read through ALL of this then you must really love us. Thank you for reading and most especially, thank you for praying. I plan to keep this blog updated with news on Kinsley’s progress and information on her prognosis. If you are interested please come back and read more and we welcome your words of encouragement!

43 comments:

  1. This comment has been removed by the author.

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  2. Sweet Caroline, I think it is so great and beneficial for you to be writing a blog about your experiences as it is a great way for support. I love all the beautiful photographs of Kinsley, she is such a gorgeous little girl! So sorry to hear you had to deal with unprofessionalism in this time of unknown when it comes to diagnosis. Hopefully from here on out will be a journey less stressful and scary and more on the up and up. Prayers for your sweet family.

    xx
    Bonnie Rose

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    1. Thank you so much for the prayers, Bonnie. We ask that you keep them up! Love you! So glad your boys are almost home! :)

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  3. Thank you for this blog. God is watching over Kinsley and you each moment. He is by your side. Love you all so much! Granny D

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  4. Praying for your sweet girl. Kinsley is blessed to have you and Luke as parents! I know she will thrive!

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  5. You know I will always be praying for her and cheering her along as she makes progress. Love her and love you too!

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  6. Thanks for the update and all the cute pictures! Kinsley is adorable, sweet, healthy and appears to be as happy as she can be so you and Luke must be pretty awesome parents :-). I've been keeping up with you through your mom and will continue to pray for your strength as well as pray for sweet Kinsley. She has a lot of fans here at Jordan Park!

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  7. I will keep your family in my prayers!

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  8. Thank you for sharing this information to all of us who love you and Luke and little Kinsley. I appreciate knowing you need me to pray for you as you wait for test results and to send up prayers of thanksgiving for the progress your hard-working little girl has made in her therapy. This precious child has touched so many hearts and united us all in prayers.

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  9. I believe blogging about this will help you. Also look into support groups for parents so that you don't feel like you are the only ones dealing with this type of situation. I will be praying that all will go well for Kinsley and her parents! Especially praying that when all the result are in, things aren't as bad you heard at first. I am encouraged by the progress she has made with her therapy. Best wishes for all of you. BTW, I met Luke's brother in Searcy this summer. He taught the Bible class I attended. It was good.

    Love,
    Teresa

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    1. Thank you very much, Teresa. We have been reaching out to other parents with children with the same syndromes. It has been a great help as many of them know more about these syndromes than most doctors do and often how much more encouraging information.
      And, aha! So you are the mystery person Jared was telling me he met. He said he met a lady I knew in Italy, but he couldn't remember your name. Small world! Glad you got to attend his class. I find him to be quite knowledgeable when I hear him speak.
      Again, thanks for the prayers and please keep us in them.
      Love, Caroline

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  10. What a true blessing God has bestowed upon me, opening a door and allowing me to know and experience a sister and brother like you and Luke. All children are a blessing from God, they are His, Psm.127:3. You have a wonderful physical family and supported by a strong loving spiritual family at Farmington, who will stand beside you every step of the way. My personal observation, in the short time I have know you and Luke, is that God has blessed you both with strength, wisdom, and maturity beyond your years. Sweetie little Kinsley is a rare gem that you and Luke will polish to become a priceless diamond. There will be days your strength will not be able to hold back your tears, and those tears, God collects in His tear jar and remembers them. There will be yet other days when all the disappointments can not erase your happiness and joy. God bless you three precious souls and remember God is able.
    Looking forward to getting to know you all much better; In Christian Love; Mike and Donna Raine.

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    1. Thank you so very much for your sweet words and encouragement. We are looking forward to working with you and Donna as well and we are sure you will both be a blessing to us and our congregation.

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  11. Caroline,

    Thank you for the update - we will continue to pray for you folks. I am SO excited about her progress! How encouraging! We look forward to hearing more and seeing how GOD is going to use Kinsley to spread His Kingdom (I believe he already is). He is (and will) work powerfully through her. Thank you for your example and faith. May the LORD bless your family.

    Justin, Heather, and David

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  12. Pray for that sweet girl every day!

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  13. Caroline - We do not know each other personally, but I am friends with your sister and have also had the opportunity to spend some time with your amazing mother while living in Germany several years ago. My husband and I have 3 children - a boy and 2 girls. When our first daughter was about 8 months old, we received the news (devastating at the time) that she had been born with a moderate hearing loss and would require hearing aids for the rest of her life. While I realize that this may seem minor compared to Kinsley's condition, so much of what you wrote above is familiar to me. Trips to the geneticist (we found out that my husband and I both had a recessive gene mutation that we'd passed along to Hannah), multiple other specialists and ongoing visits to the audiologist. My husband is in the Air Force & was deployed at the time, so it was even more overwhelming trying to deal with it by myself at the time. After a little while, I posted about Hannah's situation on Facebook and received so much encouragement, but the best words of wisdom I received (from a friend whose son is on the autism spectrum) were these... Take time to grieve over the loss of the life you had envisioned for your child, then embrace the life that she does have. No matter what your child's condition, they are still such a blessing and God made them this way for a purpose. She also told me that, with time, things that seem devastating today will just seem normal and will be no big deal for your family. Every word of that advice has been so true for us. Hannah has been wearing hearing aids since she was 10 months old & I don't even give it a second thought when I pop them in her ears in the morning now. She will be 3 in February and is talking ahead of where she should be developmentally (so much so that the state denied her further speech services!) We knew that we had a 25% chance of any other children having the same genetic issue, which could be even more severe to include complete deafness, but still chose to have our sweet Sarah last December. She too was born with a genetic hearing loss (although a milder case than Hannah), and the "devastation" of hearing the news the second time was much shorter lived. Both of our girls are such blessings and I know they will develop such amazing character in overcoming any physical limitations that they may have. Well, I believe my comment may be as long as your post now... Know that we will keep you in our prayers. We are friends with several other Christian families that have children with genetic disorders - if you ever want to talk, or read the blogs of other families going through similar difficulties, please let me know... May God bless your family.

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    1. Toni,
      Nice to "meet" you! Thank you for sharing the words your friend shared with you. I know how true they are and I am thankful for that. Right now we are still struggling through the grieving, but working towards the joy in having Kinsley for who she is. We appreciate all prayers and well wishes through this process. Thanks, again.

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  14. Praying and will continue <3 - from another mom :)

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  15. Oh Luke and Caroline, thank you for sharing. I remember feeling worried about Lydia when we thought for a few months that she might have MD, due to her tight muscle tone. I'm sorry for the fear of the unknown. We will for sure keep the three of you in our prayers. How beautiful that Kinsley is blessed to have you two as her parents. May you be blessed with peace, comfort, and joy.

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  16. Oh, Caroline! Your family is in our prayers. It's wonderful to be able to stay connected to people you live so far away from. Please keep the blog updated on her progress. We're praying!

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  17. Caroline, thank you for sharing this journey you and Luke have had and for sharing a sliver of the emotions and anxiety you've experienced. Your faith is inspiring. And, yes, Nancy and I will continue to pray and we will continue to read your blog. God bless.

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  18. Caroline, thank you for your example of faith. She is a special girl with a very special mom! (and I'm sure dad, too). I will be praying for your family as you go through the joys and trials this parenting experience may bring. Also, my family lives about 20 mins from AR Children's, so please let me know if you are ever in the area and need anything! Thanks for sharing your heart!

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  19. Caroline, sweet prayers for your precious Kinsley, you and Luke. Kinsley could not have two better people to love her than you two. We will continuously lift y'all up in prayers. Thank you for sharing.

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  20. We are praying for you, Luke and sweet Kinsley! She is a beautiful baby girl and has the sweetest smile! We will keep praying for you all! We are here if you need anything at all!
    Tasha and Jake

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  21. Caroline, my heart aches for you all. I can't imagine the waiting game that you're going through right now. But you're right, no limits! Even when you get definite results, no two people are the same and you both have the right attitude that you will continue to find ways to help your beautiful daughter progress in any way that she can. She is a gift and God chose the right couple to give her to. You're all in my prayers. I'm so glad you have a wonderful family that you can lean on during these uncertain times. Hang in there sweet Caroline!

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  22. I want to thank each of you for your kind comments and especially your prayers. We know how much prayer helps!

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  23. Dear Caroline, I just heard about your sweet Kinsley. On every Friday your family is in my prayer but from today you, Luke and Kinsley, I will have you every day in my prayer.
    Jesus is close to us in every situation, even when we have a sensation that he is not there. No, he is there with us, and I know that you know this.
    Your faith and your love for the beautiful Kinsley is the blessing that will make everything fine.
    Give a kiss to Kinsley from me, her Italian uncle.
    Love you guys and hope to meet you.

    Lino

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  24. You have a beautiful daughter. Her sweet smile would warm any heart. I am thankful that Kinsley has such loving parents which allowed her condition to be detected so early. I pray that Kinsley will continue to develop and grow stronger everyday. I pray that you and your husband find strength you need. Kinsley is blessed to have you has parents.

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  25. Hi Caroline and Luke, this is Aunt BA. I can’t imagine that Kinsley could have two better parents to raise her and to help her reach her full potential, considering the challenges she is facing. She is indeed a beautiful, sweet girl, and it is so encouraging to hear of all the progress she is making. I think you are so wise in not setting limits on what she can do, while being realistic at the same time. You are all constantly in my thoughts and I look forward to seeing you all in a few days. I have shared your blog with several of my close friends and they are all praying for your family and hoping for the best regarding the diagnosis. One friend posted as bs7928, just so you know where that came from. If Kinsley does indeed have one of those syndromes, we hope it will be on the mild side of the spectrum. No matter what, she will be a loved and cherished child, who has already brought much joy into the world. Love, Aunt BA

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  26. Luke and Caroline, what a blessing you have been to our congregation. Kinsley is so sweet and beautiful, she is a true gift from God. I pray for the things you requested in this posting and I also pray for you and Luke. May God give you strength and courage for the road ahead, and may He bless Kinsley with continual progress. I love you guys!
    Marion

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  27. What a blessing this blog will be to others who may deal with similar issues. I'll tell you what, that Kinsley is PRECIOUS. What a lucky lucky girl to have parents like you.

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  28. Caroline and Luke, We are praying for little Kinsley. She is such a lucky little girl to have such loving Parents and absolutely wonderful Grandparents. We will keep positive thoughts. Thank you for posting this blog and keeping us posted on her progress. Love to you all...Joe and Marianne Kilkenny

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  29. Praying for Kinsley (and her mommy and daddy)! You faith continues to be an inspiration. Thank you for being transparent in your journey, which is probably not easy. Please let me know if I can every do anything to help you all!
    Love,
    Regina

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  30. Caroline and Luke,
    Just recently saw a link to your blog and sat down to read it tonight. My heart was aching as I was reading your words Caroline, but your positive attitude and clear hope and pride for your daughter shine through what you've written. Kinsley is blessed by two God-fearing parents who are fighting for her.
    Some of your words struck such a deep cord with me and the verse you wrote out from Jeremiah is one that I cling to daily.
    I want you to know that I am praying with and for you guys.
    Kinsley is such a special little girl and I know the Lord has big plans for her life! Hoping to follow her journey here as she makes milestones and sets new "limits" for herself!
    Please let us know if we can do anything or pray more specifically about something!
    Love you guys,
    Kelli and Daniel

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  31. Caroline, I have never met you but do know your sweet Mom. I met her through WW and have developed a bond with her. She shared this link with me as I have been praying for your family and wanted to be kept updated. I am so very encouraged for Kinsley, our God is an awesome God!! He is working so much beauty thru this, it is evident in your blog. I will keep Kinsley and you parents in my prayers.
    Cheryl Erdner in Huntsville, AL

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  32. Hello Caroline, I just came across your blog, and want you to know that your message fills me with hope and faith. What an example you and your husband are to all of us who don't have children yet, or are expecting soon (like me). Thank you for reminding me that nothing is a guarantee except that God wants us to prosper. He chose you two to raise Kinsley because He knew the three of your needed each other. I'll be following your blog, and keeping Kinsley in my prayers. Thanks again.

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  33. Hi ! :) my name is Mari, and i'm from Finland. My sisters daughter has received a diagnosis of MEB. I'm so happy that i found your blog ! Best wishes for Kinsley ! :)

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    1. Hello, Mari. I'm so glad you found the blog too. I started it partially in hopes it would help others looking for more insight into MEB. I hope it's helpful to you.
      There is also a Facebook group called Walker Warburg Syndrome that has a lot of MEB families on it too. You may be interested in joining it if you would like to "meet" other families.
      I would love to hear more about your niece. I will be praying for her and your family too.

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    2. Ok! Nice to know about the group ! Thank you ! :)
      Could i have your email addres ? I think my sister would like to be in contact with you ! :)

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    3. Of course! In an attempt to save it from being easily found by spamers, I will just say it's my first name and then dockery @ gmail . com. I hope that makes sense. Let me know if it doesn't work. Thanks!

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  34. Thank you so much ! :) this means a lot to me ! :)

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