As I continue to wrestle with the inconsistent diagnostic information for Mia and have entered alongside fellow parents who are parenting children with both medical and special needs, it is comforting to know that people have been so supportive by encouragement, positive words, and prayers. Yesterday, one of my dearest friends wanted more details about what happened at last Friday's appointment. As we texted back and forth, I relived and reconsidered the information which was said by Dr H. I went to bed a bit unsettled, knowing that I just need to trust that Mia will receive the best care possible. I will see to it. And knowing that she is teaching me important lessons to help me grow into the person I am meant to be.
This morning, this sweet friend called to tell me she had been praying at 3:00am for me and my girls, and said she realized something that she needed to share. What she said was so beautiful, so simple, and yet so profound. She explained that my decision and dream to become a mother began with Katelyn. It required great faith, and deepened my own faith more than I ever imagined. Katelyn exemplifies faith. I followed my call to be a mother to a tiny baby who lived half way across the world. She enabled me to fall in love with her country, making it a part of myself. She helped my faith to grow, as I experienced the opportunities to go back to that country and serve. While serving, I was brought to my Lianna. Lianna, she explained, represents hope. Lianna opened my eyes to the understanding that I could parent a family, not just a single child. When I struggled with attachment issues and deep seeded insecurities plaguing Katelyn, and grappled with how to best parent her, Lianna brought hope. I learned that it was not my failures as a parent which haunted Katelyn, rather, it was the trauma of her experiences. Lianna represented the hope of overcoming trauma, and the hope of family. She shows the hope of communicating feelings, and the healing which comes from sharing. Lianna embodies hope. Last year, I received joy unimaginable, as I was given the unexpected gift of Hannah Joy. I was reminded again of how I thought my family was completed after Mia, and how I had never imagined it would be possible to overcome the hurdles of the lack of finances and confidence I had about both the adoption and parenting a 4th child. Hannah taught me that trusting God sometimes brings joy that is beyond explanation. Hannah is joy palpable. Finally, my friend explained, there is love. Not the easy, looks so pretty love, but REAL love. The love that takes self sacrifice. The love that stretches and brings people out of a comfort zone. The love where patience is required, sometimes on a daily or minute by minute basis. It's the in the trenches, hard work, type of love. Where the payoff brings rewards which are indescribable and transformational. That, she explained, is my Mia. Mia represents a love which is greater than I ever imagined. A love which has required me to move outside my skills as a parent, and lean on others. A love which has required more energy and fight than I ever thought I had. A love that is life changing because it trusts, protects, hopes, and perseveres. It is a love that doesn't fail. My Mia, and parenting her, is giving me this love. She is showing and teaching me this love. Mia epitomizes love.
Hearing this today might have made me gasp. It certainly made me cry. My friend is so wise, and offered an amazing insight into what has been happening through my little family. I am incredibly grateful for the gifts of faith, hope, love, and joy that my girls have been giving to me. I am also humbled by the friends placed into my life. Friends who encourage and support, friends to ride the trauma train with, friends to walk the special needs path beside, and friends who choose to look past imperfections and point out the faith, hope, joy, and love they see. It is just what I needed to hear.
Wednesday, April 30, 2014
Monday, April 28, 2014
The unexpected answer
Our trip to NYC was a whirlwind trip. We managed to take the scenic route to our friends' home, which included seeing the Statue of Liberty and Laguardia airport, all while on route to downtown Manhattan's Spanish Harlem. I'm still not sure how that happened, but am grateful we didn't end up in DC. It was a clear mercy to be able to spend time with our friends, who thoughtfully gave such care and kindness which quelled my anxiety about Mia's appointment.
For me, the hardest part of the past 6 months has been the unknown. For me, it was not knowing the underlying syndrome or diagnosis. For me, it has been not knowing the prognosis. For me. As I walked into the appointment for Mia with Dr H, I was expecting an answer. My answer. I expected confirmation of what my mama gut was telling me. My gut. What I heard changed my perspective, and it has been something I have been thinking and processing for the past several days. The underlying syndrome is not important. We do not know if the one positive result for Russell Silver Syndrome and the one negative result for Russell Silver Syndrome is accurate, and what it means. Perhaps she has hypomethylation in some cells, but not others. Mia received treatment with whole blood products while she lived in China, which invariably changes the reliability of any genetic testing. Knowing if she has Russell Silver Syndrome, a mosaic form of Russell Silver Syndrome, or an undetermined syndrome will likely be impossible. I heard the words "it is not important". For HER. For Mia. It does not matter if she has Russell Silver, or any other syndrome. What matters is that she is an almost 8 year old child who has developmental disabilities, has special needs, has beta thalassemia major, and is in growth failure. This was my answer. Not what I expected, that is for sure. I walked in not knowing that I had made this somehow about me, and walked away with a clearer perspective.
Although the diagnosis is unclear, the treatment at this time is clear. Mia needs to undergo testing to possibly begin growth hormones. Dr H said, with growth hormones, her body will likely grow. She will begin to eat more because her body needs the calories to grow. Dr H explained that right now Mia does not feel very hungry because she is not growing. It is NOT that she is not growing because she is not eating or taking in enough calories. With growth comes change. Her bones will grow, her muscles will grow, and her brain will grow. This is what it is about. It's about Mia, not me. It's about Mia receiving the best possible treatment given her very, very complicated background and medical circumstances. And it's about Mia's potential to become the best person she can be. Thank you Dr H, for helping me see this clearly, and for reminding me to keep my eyes on what is most important. My sweet Mia.
For me, the hardest part of the past 6 months has been the unknown. For me, it was not knowing the underlying syndrome or diagnosis. For me, it has been not knowing the prognosis. For me. As I walked into the appointment for Mia with Dr H, I was expecting an answer. My answer. I expected confirmation of what my mama gut was telling me. My gut. What I heard changed my perspective, and it has been something I have been thinking and processing for the past several days. The underlying syndrome is not important. We do not know if the one positive result for Russell Silver Syndrome and the one negative result for Russell Silver Syndrome is accurate, and what it means. Perhaps she has hypomethylation in some cells, but not others. Mia received treatment with whole blood products while she lived in China, which invariably changes the reliability of any genetic testing. Knowing if she has Russell Silver Syndrome, a mosaic form of Russell Silver Syndrome, or an undetermined syndrome will likely be impossible. I heard the words "it is not important". For HER. For Mia. It does not matter if she has Russell Silver, or any other syndrome. What matters is that she is an almost 8 year old child who has developmental disabilities, has special needs, has beta thalassemia major, and is in growth failure. This was my answer. Not what I expected, that is for sure. I walked in not knowing that I had made this somehow about me, and walked away with a clearer perspective.
Although the diagnosis is unclear, the treatment at this time is clear. Mia needs to undergo testing to possibly begin growth hormones. Dr H said, with growth hormones, her body will likely grow. She will begin to eat more because her body needs the calories to grow. Dr H explained that right now Mia does not feel very hungry because she is not growing. It is NOT that she is not growing because she is not eating or taking in enough calories. With growth comes change. Her bones will grow, her muscles will grow, and her brain will grow. This is what it is about. It's about Mia, not me. It's about Mia receiving the best possible treatment given her very, very complicated background and medical circumstances. And it's about Mia's potential to become the best person she can be. Thank you Dr H, for helping me see this clearly, and for reminding me to keep my eyes on what is most important. My sweet Mia.
Monday, April 21, 2014
New York Bound
So, the genetic testing Mia had came back "inconclusive". The lab was unable to process many of the tests. Our geneticist told me she wondered if it is because Mia is chronically transfused. Nothing, not even genetic testing, goes easily for sweet Mia.
Today, I received the written results for the testing. The lab report states "borderline DNA hypomethylation at DMR1, upstream of the H19 gene was detected". Now, from what I understand, loss of DNA methylation is observed in about 1/3 of patients diagnosed with Russell Silver Syndrome. Mia is "borderline". What that means is anyone's guess. Anyone, except perhaps for Dr Madeline Harbison, one of two world recognized experts in Russell Silver Syndrome. Dr Harbison, or Dr H is she is fondly known as, works out of Mt Sinai Hospital in New York City. A mere 5 hour drive from us. On Friday, Mia will be seen by Dr H. For a minimum of 4 hours. It is my hope that she can make some sense about Mia's very complicated situation. There is no other child with beta thalassemia major and Russell Silver Syndrome in the medical literature. No other person alive has both of these diagnoses simultaneously. I think Dr H is excited by the chance to take a look at Mia and get to know her. She sounds hopeful that she can help us, despite the lack of gestational age, birth weight and length, and other helpful information to have in discerning this particular diagnosis. Because Mia was adopted, and we have no information about the genetics of her birth family or of her birth itself, it has made determining diagnosis a bit challenging. As her mother, I need an answer. I need to know if my child has this syndrome. My mother's gut tells me she does, but it is difficult navigating life without confirmation. Everything, from insurance coverage for medications to school assistance requires diagnoses. There are complications which must be monitored for, if she does have this diagnosis. Mia has had enough challenges in her short life this far. She deserves an accurate diagnosis. She deserves to be seen by the leading expert in her suspected syndrome. And hopefully, after Friday, we will have more definitive answers.
Today, I received the written results for the testing. The lab report states "borderline DNA hypomethylation at DMR1, upstream of the H19 gene was detected". Now, from what I understand, loss of DNA methylation is observed in about 1/3 of patients diagnosed with Russell Silver Syndrome. Mia is "borderline". What that means is anyone's guess. Anyone, except perhaps for Dr Madeline Harbison, one of two world recognized experts in Russell Silver Syndrome. Dr Harbison, or Dr H is she is fondly known as, works out of Mt Sinai Hospital in New York City. A mere 5 hour drive from us. On Friday, Mia will be seen by Dr H. For a minimum of 4 hours. It is my hope that she can make some sense about Mia's very complicated situation. There is no other child with beta thalassemia major and Russell Silver Syndrome in the medical literature. No other person alive has both of these diagnoses simultaneously. I think Dr H is excited by the chance to take a look at Mia and get to know her. She sounds hopeful that she can help us, despite the lack of gestational age, birth weight and length, and other helpful information to have in discerning this particular diagnosis. Because Mia was adopted, and we have no information about the genetics of her birth family or of her birth itself, it has made determining diagnosis a bit challenging. As her mother, I need an answer. I need to know if my child has this syndrome. My mother's gut tells me she does, but it is difficult navigating life without confirmation. Everything, from insurance coverage for medications to school assistance requires diagnoses. There are complications which must be monitored for, if she does have this diagnosis. Mia has had enough challenges in her short life this far. She deserves an accurate diagnosis. She deserves to be seen by the leading expert in her suspected syndrome. And hopefully, after Friday, we will have more definitive answers.
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