A Diagnosis

This afternoon Dr. Parikh called with news on Maizie's tests. There are more tests we are waiting for but a big piece of information warranted a discussion. Here, we now enter the world of genetic disorders. I never dreamed we would be given such a specific answer to Maizie's health issues. While listening to the doctor I was moving between wanting to slide down my chair and cry with grief and at the same time relief and of course fear for Maizie's future.

Maizie has an extra chromosome 6 (trisomy 6...see number 19 on this link). This is complicated and rare. One thing all the doctors always agreed on is that Maizie is a "complicated" child. After nine years of searching, reading, going to specialists, knowing in our hearts that something was not right...we finally have an answer, a diagnosis without a name.
This duplication of chromosome six has 50 to 100 genes within this tiny piece. So, this means that there are 50 to 100 genes in duplicate on this little dot. This little island that has brought us and Maizie so much anxiety..so much pain and yet... here is Maizie. Unique and totally her own lovely, gregarious and beautiful little angel. Chromosome 6 is apparently still much of a mystery. A duplication of this gene however would explain all of Maizie's developmental issues, sensory disorder, seizures, muscle weakness, IGG deficiency and as Joe and I know...the list goes on. There is obviously no cure, we did not expect there to be one. This extra chromosome was there at birth. It is part of her unique DNA design. There are however, things we need to do and look out for in Maizie's future.

Maizie has a heart murmur and needs to have an ultra sound done on her heart and abdomen. People with chromosome disorders often have problems with organs so this will always be a concern. I am relieved we know to look and devastated that we have to.

The good news is that chromosome changes can get better in time. Maizie has improved in so many ways and become much healthier and developed a great deal in the just the last year. She has very few respiratory infections and fights off illness better. We do feel, through ongoing care and prayer that this will only continue. We have always believed this and always will. I would like to think that the worst of Maizie's health struggles are behind us. We have her seizures under control, she sleeps better, can learn when taught in unique ways and has progressed socially in ways that just two years ago we would have never thought possible.
I remember when she was suffering from four to six seizures daily and barely able to communicate or sleep...a few people had told us we would be better off reversing the adoption. Someone once said that putting her somewhere where they knew how to deal with a kid like her would be better for her and of course better for us. I am sure this advice sounds ludicrous to people who only know her more recently. We thought it was bad advice at the time but I can understand where some people may have believed a group home would have been our best hope. A lot of focus was put on what would be best for Joe and me.

For some people since she was adopted it seemed we should have less concern. Like we should just give up, move on and adopt a "healthier" baby. I remember feeling disgusted at this advice. I am proud of Joe and I for never taking advice like that. I can not imagine where she would be now without us. She certainly would not be devouring books, writing her own blog and enjoying her obsession with barbies. I am convinced she would have retreated more into her own world and with anxiety and ongoing seizures Maizie would have severe brain damage.

I am thankful for family and friends that have stood by Maizie and worked to understand her and most importantly, always loved her and knew she was meant to be our little girl. When things have been really bad and people say, "I don't know how you do it?" Well, there is an answer to that. We did it through faith and prayer. We asked God to help us, to help Maizie and we knew that He would. So many people have been praying for Maizie for so many years. It really moves me when I think about this.

I feel like since we first took Maizie home with us as an at risk adoption that we surrendered a part of ourselves to God. We gave Maizie to God over and over again. We said many days, "Please God. We love Maizie and want her to be ours but if she is meant to be with parents other than us we will accept that. We will surrender her to you and love her always." It was the most painful experience I have ever been through. Luckily, God sent her back to us and we have been blessed with caring for her ever since. Those who lived through that time with us know how difficult it was.
That was only the beginning. With illness came frequent hospitalizations and behavioral challenges...once again, surrendering to God made all the difference. When you love a child and lose so much control in caring for them, are helpless in making them better the only true place to turn is to God. Only He will be there with you when you are alone with that child and at your absolute wits end. I like the word 'surrender' and it is so difficult to do. To surrender to God. I can not imagine living my life any other way. I would not want to. One time when Maizie was hospitalized at age three for one of her worst bouts of undiagnosed seizures and insomnia I had found a rock in a store that had the word 'surrender' engraved on it. I bought it and it still sits on a shelf, reminding me that Maizie is God's child.
Being parents we always doubted and beat ourselves up...a lot. But, we always knew Maizie needed us and that we would help her get to a point to where she could be a kid and enjoy it way more than she had been. So much of her infancy and toddler days were spent vomiting from seizures and having endless emotional melt downs from her body feeling so out of sync with everything. But, always there was Maizie there...loving us, showing us total joy and unabashed play, excitement for life, waiting for us to find the right help, the right medications and therapy.

I feel sad that she will struggle with so many things I take for granted every day. I wish I could make it all go away and that she would be healed. I also know that compared to many children with genetic disorders she is truly blessed with her skills and functioning ability. Maizie will continue to fit a mish mash of developmental disorders, PDD, AUTISM, learning disorders etc. This is for us, an answer as to why she never clearly fit any one diagnosis.

Joe and I are glad that we now know it was not a brain injury caused in foster care or from vaccinations or diet. We get questions relating to vaccinations and diet a lot. There are many debates around these topics. Joe and I practically became experts on them. When Maizie was a toddler we did many different diets, "treatments" and had many tests run for allergies, lead poisoning and the list goes on. Nothing helped her improve until her seizures were diagnosed and she went on Lamictal to control them.

Maizie's developmental issues and seizure disorder began at birth, not after her shots. Her problems did worsen over time but only improved through the help of modern medication, our insistence on not letting her retreat into her own world, private tutoring with Jeanne using some of the Lindamood Bell learning system, lots of trial and error with discipline methods, physical and occupational therapy and of course lots of prayer and insisting on having fun as a family no matter what.

Chromosome 6 is not a common genetic difference so I don't expect there to be too much information on it. I believe information is power so this is hard for me to accept. I guess we will study up on DNA stuff. The exact location is even more specific than Chromosome 6 but for simplicity, I will just call it that. I was really hoping we would come away with a 'name' for a diagnosis. I realize though that this information we have been given is a gift and I am truly thankful for it. Having some answers does bring new light.

http://www.livingwithtrisomy.org/

March of 2008
Since this post Maizie has been diagnosed with Cyclical Vomiting Syndrome. It is possible that she is having seizures. We do not have conclusive evidence of seizures but considering her biological predisposition for Epilepsy the neurologist is being careful. It is more likely that what we thought were ongoing seizures was actually cyclical vomiting syndrome. It is common for children to go undiagnosed for years and be treated for seizures instead. Obviously this is less than ideal for a child with CVS. One abnormality has been found in her heart but we are told it is nothing to worry about at this point. She will require another EEG at about age sixteen. Also, her abdominal tests back fine.