As I sit here trying to figure out what to write, I'm not sure where to begin. We know the Lord chose Maria to be a part of our family. She has already brought us so much joy and grown our family closer together. Our extended families and friends have been so supportive and grew to love Maria in an instant. We have been blessed with a fabulous babysitter, Sharri. Her love for the Lord and for Maria is so evident. We have also been blessed with wonderful therapists who work so hard to see Maria succeed.
It has been quite evident to us that Maria's needs are far more than her deafness and her adjustment to cochlear implants. She was 18 pounds at age 3, now 11 months later she is only 22 pounds. She is 4 pounds heavier and she would eat all day if we would let her. In addition she has made progress in her language, physical, and cognition abilities, but her progress has been slow. Many of you know that we had genetic testing done in November, but we did not share the exact reason for the genetic testing. Maria's eye doctor had suspicians about two different syndromes. He suggested that we see a geneticist.
We heard from the geneticist on Friday. She let us know that Maria has Cornelia de Lange syndrome. It appears that Maria has a mild form of it, as her facial and other physical features are not as pronounced as many of the children. Also, she has 2 variations on the gene that is present in people with Cornelia de Lange syndrome, but her variations have not been specifically reported. We are being referred to a medical research team in Philadelphia. It is not known whether they will be able to give us any additional information, but information about Maria may help the diagnosis of other children in the future.
This diagnosis does not change our current treatment plans of speech, OT, PT, special education services. It does mean that she will continue to make improvements in these areas, but we can expect them to be slow. Children with CdLS have communication problems and often do not talk or talk very little. This, along with the fact that those with cochlear implants take some time to learn about sound will also slow Maria's speech progress down. What impacts us the most is that we will be taking Maria to even more medical specialists. Children with CdLS often have GI problems, which causes children to sometimes be self-injurous. We attributed all of Maria's scratching, biting, and pinching to her implants, but these behaviors are present in children without hearing difficulties. For more information on CdLS you can visit the following website, but please remember that Maria most likely has a mild form of it. The webiste is: www.cdlsusa.org
We appreciate your prayers for Maria. Please pray that she will stop hurting herself. Also please pray that if she does have any physical issues wrong (i.e. GI issues, etc.) that the doctors will find them as soon as possible. We often feel that she is in pain, but have no idea if she is.
We are so blessed to have Maria in our lives. She is a joy and a gift from the Lord. God knew she would be in our lives. He knew that the 2 major issues she would have in her life (deafness & CdLS) would be communication/language issues and that I would be a speech langauage pathologist. I'm really glad I have the help of more experienced SLPs, but I'm so thankful that the Lord sent me to college, so that I would really understand what she would need. He is good and He will continue to care for her in ways that will amaze us.
Thank you all for your love and concern for our family. We praise the Lord for you.
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Hi. I found your blog via a notifications for an open google search I have for CdLS. I am also a mom to a child with CdLS who is just about two years old. He is on the more severe side of the spectrum that your daughter, but nonetheless is a complete joy for our family.ReplyDelete
So welcome to the extended family. I imagine you have heard about the online support group for CdLS and in addition there is a large blog presence and a huge facebook group. CdLS is random and has a huge spectrum of wonderful people from the kids themselves to their families.
Much luck in your doctor's appointments. I imagine you will become a regular at the GI's office and will be very busy getting screened in other areas. I have personal experience with the experts at CHOP and I'm sure they will be a big help to you in any questions you have.
I hope you have a great weekend! Let me know if I can connect you with any CdLS resources or other families and I will do my best.
I am thrilled at your ability to continue to glorify God through your trials. I agree, God is good...actually great and His plan is the perfect plan. That is clear. Our family will continue to pray for you in a more focused manner. Glad to have the info. We love you all and look forward to hanging at a time share location with you all in the future...your mom is pushing for this, i think she may be a glutton for punishment wanting the two Gary's together in her presence...24/7.ReplyDelete
Again, thanks for the info and really for showing what faith in God can bring you through.
val and gary
Heidi--thanks for putting us in touch with some helpful resources. We truly appreciate it. I enjoyed searching and learning through your blog. Thanks, MarshaReplyDelete
Val & Gary--thanks for your sweet comments. They were a real encouragement to read. Love, Marsha
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