The testing for Turner Syndrome came back negative. Our endocrinologist emailed right away with the results, and said we should immediately head for genetics. Forty eight hours later we were sitting at our Children's Hospital satellite site awaiting the genetics appointment with the physician who is clinical director of the center. For anyone who has had their child assessed by a geneticist, this will be nothing new. We, however, had never seen a geneticist. I had no idea what to expect. I figured that she would take a look at Mia, like endocrine had, and then order some bloodwork. Wrong. Our first hour was spent with a genetic counselor, who meticulously went over every single detail that I could possibly provide about Mia's time in the orphanage, time at home, time at school. She carefully reviewed and made copies of Mia's school evaluations, where it says that her learning issues are all due to ONLY having 2 years of english, and that Mia needs no supports in school. She knew we were seen by endocrinology the week before. She knew the Turner Syndrome was negative. She said the words "Russell Silver Syndrome". My head started to spin. Despite knowing that the endocrinologist had said "syndrome" I really thought that somehow I must be dreaming. Surely he was mistaken. It now seems that it is not "if" she has a syndrome, it is "what" syndrome. It was explained that we were heading into the realm of "rarer" syndromes. Turner was the first suggested, because it is the most common. One out of every 2000 births. What we are looking at now, are much rarer.
After the first hour with the genetic counselor, the MD/geneticist came in for another hour. This is the part where the patient is looked at as if under a microscope. Meticulously. Every.Single.Inch. "Clinodactyly" both hands. Several "Cafe au lait" spots. "Single palmar crease", left hand. "Micrognathia". "Frontal bossing". Words like "Microarray, Methylation, Epimutations" and I was lost. Testing will be done, with results to come back in 6-8 weeks if we are lucky. Another family waited over 3 months for their results. I explained we have a meeting with the special education administrator in January about their decision to provide no support services for Mia, and was hoping to tell them something about what is currently under investigation. I was told that there *could* be some potential initial abnormalities identified by that meeting, so call before the meeting. I was then asked if I was providing her with private therapies, since the school isn't providing anything. Guilt overtook me. No. I have not been getting private services for her. I thought to myself I will need to figure a way to fit it into our week. I cannot live in denial any longer.
I am trying not to overthink Russell Silver Syndrome (RSS), especially after the Turner Syndrome was negative. However, there are some very interesting features of RSS which seem to fit perfectly, all of which Mia has. The hallmarks are cafe au lait spots, clinodactyly, micrognathia, a triangular shaped head (broad forehead moving to a small chin), a wide mouth which has corners that turn downward, and asymmetry. Of course the kids with RSS have growth failure. Check. Have that too. Kids with RSS have never been on the growth chart for height and weight. Check. She has never even been at the 1st%. The other huge issue (over 60%) is SLOW EATING. Check. Have that too. To think there could actually be an explanation other than behavioral. Anyone who knows Mia, knows how painfully slow she eats. As in, up to 3 hours at school to eat a small bag of pretzels....not a bag purchased in the store, but literally a "snack" bag filled about 1/2 way with pretzels. Pretzels that she requested because she likes them. Mealtime is draining. She is always the last to finish. Kids with RSS have poor appetite. Again, check. Mia has never once initiated asking for a snack. Ever. Now, if she sees her sisters eat something, and she *really* likes it, she will ask for it. But never, has she ever, just asked for something because she thought of being hungry. Kids with RSS often have motor and language delays. Check. Mia did not walk until well over 2.5 years of age. Her speech still is not clear at times. Kids with RSS are said to have processing difficulties and math difficulties when in school. Check plus. Despite Mia's teacher reporting that she is doing perfect in the classroom, homework and life shows definite difficulties understanding things and completing math homework. Kids with RSS have horrible teeth, related to poor enamel and tiny baby teeth. Permanent teeth are misaligned and erupt in a different order. Check. Mia came home with cavities in every single tooth in her mouth. Her teeth were so small. Now that her permanent teeth are coming in, they are coming in front of others. She lost all 4 bottom teeth prior to losing one top tooth. Definitely following a different order.
The journey to diagnosis continues. Our hematologist was relieved that Mia's growth failure is not a direct endocrine issue, as it could have been a consequence of her iron overload which happens as a result of each transfusion. Meaning, her iron overload has not damaged any of her endocrine organs. This is a relief. However, he also said that when the Turner karyotype came back negative, he thought RSS. I am grateful for his honesty, and for keeping me in the loop of what he is thinking. If Russell Silver Syndrome is positive, she will be the only child worldwide with the dual diagnosis. And if it's not RSS, it is likely some other rare syndrome. The enormity of that weighs heavily sometime. But I know that I have been prepared and equipped for this journey, and trust that through Him, I will be able to advocate and provide for her to meet her best potential.
Saturday, December 28, 2013
Tuesday, December 17, 2013
It's not a feeling, it's reality
I have been told that I should begin writing. Writing about the reality of my life. It will be therapeutic, I was told. And it might allow others to be His hands and feet. So here I am. Tired. Weary. And not used to feeling this way. I said "I feel overwhelmed. This is too much". I was told, "It's not a feeling, it IS too much..."
I am single with 4 beloved children. I work full time as a pediatric occupational therapist, in one of my state's early intervention programs. I recently became a supervisor, which I love. Two of my daughters have beta thalassemia. They both receive transfusions every 21 days. The transfusions take 4-5 hours at our incredible children's hospital which is an hour drive away, one way. I've been ok with that. I knew I could do the medical piece. I never had any doubt that I could handle that part. Needles, blood, tears, hives, fevers, chelators, nurses, doctors all come with the thalassemia territory. It's been our life for the past 2 years.
And now this. For the past 18 months I have been concerned. My 7 year old has hardly grown. At all. So, about 18 months ago, I started saying to the NP who works the thalassemia program "I am worried. She doesn't seem to be growing". Rather than being met with a "hmmm" or "I will share with Dr N" I was met with a "she's fine". "She's Asian". "They are small". BUT, I said, "I have two other Asian daughters, and they all grew". In the NP mind, it didn't matter. "She's fine" she said. She never reported my concerns to the hematologist. Instead, she insisted she was right, and I was incompetent. An alarmist. A thorn in her side. At my daughter's 6 year old physical, our pediatrician said "I'm concerned, she's barely gained 3 cm of height, and 2 lbs of growth. Let's refer to the growth and nutrition clinic". Off we go, only to have the growth clinic tell me that they will call hematology. When they called me back (I'm guessing they spoke to the NP), they said, "we will offer a nutritionist". Now, I work in early intervention. I work with a nutritionist. I know the growth strategies of adding butter, heavy cream, pediasure. We never went to their nutritionist.
Last August, my 2 year old Hannah had her first clinic visit with our hematologist and the NP. They said the reason to transfuse my 2 year old was to ensure proper growth. I laughed a bit. I said "it certainly hasn't helped 7 year old Mia for the past 21 months". The hematologist asked the NP to pull up her growth chart. He took one look at it, and said "she needs endocrine". There it was. Finally, I was heard. This was NOT in my head. I was not an alarmist. My girl was NOT growing, and needed endocrine. Our hematologist has since apologized for the not looking very good to either my pediatrician or I. We no longer need to work regularly with the NP. She has never apologized.
While all of this was happening, life went on. Mia started school. She came from China with global delays. I knew this. I asked for testing as soon as she got home, to be completed in her native language. It was never done. Eventually, they tested in english and she was given an IEP. She needed to repeat kindergarten in a full day program. After the second year of kindergarten, I was told she no longer needed any services. She was doing terrific. All this, despite testing which showed serious deficits in comprehension, memory, vocabulary. I was told, these results were because she "only had 2 years of english". I bought it.
Starting first grade with Mia has been an eye opener. She nows has homework. I have watched her struggle. She doesn't understand things. She took the bus home, somethings she has done for 2 years, and didn't recognize our bus stop. She didn't get off. Two other bus incidents happened, resulting in missed buses. The school said she is doing terrific. No worries. Um, ok.
Last week we went to the endocrine appointment. I liked him immediately. He asked me what my concerns were. He spent alot of time methodically listening and reviewing things. He told me that prior to our appointment, our hematologist spoke at length to him. I liked hearing that there is coordination between them, two great minds working together. The endocrinologist explained his thought process. He said that diagnosing someone as "genetically small" is the last resort, when everything else had been ruled out. Thoughts drifted back to the NP "she's just small". He did not think we were looking at that for Mia. He said the next thing to consider, is a thyroid issue. Mia had testing of her thyroid, and all looked fine. He said another thing to consider is growth hormone. He will look at that, but thought it would be fine. He said finally, another factor which could contribute to the growth failure we were seeing is a syndrome. A syndrome. I thought ok. He then pulled up the Turner Syndrome growth chart. Mia follows it perfectly, at the 50% for girls with Turner Syndrome. She has a broad forehead. Her pinkies curve in on both hands. She has a broad chest. Her elbows are distinct. He said, we needed to test for it. He said, try not to panic. He said, it would explain the learning issues. The bus issues. He mentioned another syndrome to test for, *if* Turner came back negative. He advised me to schedule an appointment with a geneticist.
So here we are, awaiting diagnosis. Awaiting to hear if she will have a high risk of aortic dissection, kidney issues, hearing loss, vision issues, and need growth hormones. I know she needs those special education services in place again. That's a no-brainer, even without this potential diagnosis. I feel overwhelmed. I feel fragile. I feel needy. I was told "you ARE overwhelmed, fragile, and needy. This is NOT a feeling, again, this is the reality of the situation. You are single with 4. You work full time. You are in over your head". I was told this is too big to manufacture my own provision. It is not humanly possible. That things are far beyond my resources, spiritually, financially, emotionally, relationally. That fear, doubt, and insecurity will be part of the journey. And that this is part of a faith journey. My faith journey.
I want to feel back to my self again. I know we will be ok, and that this will just be our life. But I want to feel normal again. I don't want to worry. I don't want to feel overwhelmed. I don't want to feel fragile. I don't want to feel grief. I was told that it will take at least 6-9 months to come to acceptance, and I cannot expect it before then. Um, I wanted to feel back to normal yesterday. I was told I need to give myself time. Time to begin this new normal.
I was told that when Mary said yes to God, she had no clue what she was committing to. I was told that when I said yes to adopting, I also had no clue to what I was committing to. God invites us, and we have a choice, whether to say yes or no. I chose yes. And it was right. I know that. What I am wrestling with, is that I said yes to thalassemia major, and all that it entails. It is a serious diagnosis. Mia qualifies for Make a Wish. Her condition is life threatening. I knew this when I said yes. But a syndrome on top of it? Really? There is only *ONE* other case of beta thal major and Turner syndrome world wide. One. My girl could be the second. Really?
I was reminded that when I said yes to adoption, I was invited. But, I didn't ask for it. I didn't ask for this. Mia didn't ask for this. No one does, really, when saying yes to that invitation from God. So it's where trust comes in. It's where faith comes in. It's where belief that we will be carried, somehow. That God is with us, and He will provide. I cannot deny my reality. And in accepting it, I will find God. I will find Him over and over again.
There have been mercies, signs of God's fingerprints, over the past 9 days. My best friends have listened, supported, researched, and prayed. They have brought me meals, and ran to the supermarket for me when I just couldn't do it. They have brainstormed, coming up with suggestions when I have felt paralyzed. My pastor and his wife dropped everything to come visit, to listen and pray, even though he is on sabbatical. Friends have offered kind words, sent messages. All signs of mercy. Mercy truly is a beautiful thing. If the NP had actually listened to me, and we went to endocrine a year ago, I likely would not have beautiful Hannah with me. It would have been too much to go back for one final adoption. The NP was sent to ensure that Hannah came home first. It was this insight that took my breath away. It was from a friend I have never even met, who pointed out this mercy. Little Hannah is the contrast to grief and sadness, as my pastor so eloquently said. She radiates joy.
I know that things are unfolding as they should. I know that I have been gifted, and that God is good and merciful. I know that I have been uniquely prepared to handle this journey. It doesn't change the fact that this is a hard journey though. And someday, my faith will be stronger. Because His love is stronger. And we are not alone.
I am single with 4 beloved children. I work full time as a pediatric occupational therapist, in one of my state's early intervention programs. I recently became a supervisor, which I love. Two of my daughters have beta thalassemia. They both receive transfusions every 21 days. The transfusions take 4-5 hours at our incredible children's hospital which is an hour drive away, one way. I've been ok with that. I knew I could do the medical piece. I never had any doubt that I could handle that part. Needles, blood, tears, hives, fevers, chelators, nurses, doctors all come with the thalassemia territory. It's been our life for the past 2 years.
And now this. For the past 18 months I have been concerned. My 7 year old has hardly grown. At all. So, about 18 months ago, I started saying to the NP who works the thalassemia program "I am worried. She doesn't seem to be growing". Rather than being met with a "hmmm" or "I will share with Dr N" I was met with a "she's fine". "She's Asian". "They are small". BUT, I said, "I have two other Asian daughters, and they all grew". In the NP mind, it didn't matter. "She's fine" she said. She never reported my concerns to the hematologist. Instead, she insisted she was right, and I was incompetent. An alarmist. A thorn in her side. At my daughter's 6 year old physical, our pediatrician said "I'm concerned, she's barely gained 3 cm of height, and 2 lbs of growth. Let's refer to the growth and nutrition clinic". Off we go, only to have the growth clinic tell me that they will call hematology. When they called me back (I'm guessing they spoke to the NP), they said, "we will offer a nutritionist". Now, I work in early intervention. I work with a nutritionist. I know the growth strategies of adding butter, heavy cream, pediasure. We never went to their nutritionist.
Last August, my 2 year old Hannah had her first clinic visit with our hematologist and the NP. They said the reason to transfuse my 2 year old was to ensure proper growth. I laughed a bit. I said "it certainly hasn't helped 7 year old Mia for the past 21 months". The hematologist asked the NP to pull up her growth chart. He took one look at it, and said "she needs endocrine". There it was. Finally, I was heard. This was NOT in my head. I was not an alarmist. My girl was NOT growing, and needed endocrine. Our hematologist has since apologized for the not looking very good to either my pediatrician or I. We no longer need to work regularly with the NP. She has never apologized.
While all of this was happening, life went on. Mia started school. She came from China with global delays. I knew this. I asked for testing as soon as she got home, to be completed in her native language. It was never done. Eventually, they tested in english and she was given an IEP. She needed to repeat kindergarten in a full day program. After the second year of kindergarten, I was told she no longer needed any services. She was doing terrific. All this, despite testing which showed serious deficits in comprehension, memory, vocabulary. I was told, these results were because she "only had 2 years of english". I bought it.
Starting first grade with Mia has been an eye opener. She nows has homework. I have watched her struggle. She doesn't understand things. She took the bus home, somethings she has done for 2 years, and didn't recognize our bus stop. She didn't get off. Two other bus incidents happened, resulting in missed buses. The school said she is doing terrific. No worries. Um, ok.
Last week we went to the endocrine appointment. I liked him immediately. He asked me what my concerns were. He spent alot of time methodically listening and reviewing things. He told me that prior to our appointment, our hematologist spoke at length to him. I liked hearing that there is coordination between them, two great minds working together. The endocrinologist explained his thought process. He said that diagnosing someone as "genetically small" is the last resort, when everything else had been ruled out. Thoughts drifted back to the NP "she's just small". He did not think we were looking at that for Mia. He said the next thing to consider, is a thyroid issue. Mia had testing of her thyroid, and all looked fine. He said another thing to consider is growth hormone. He will look at that, but thought it would be fine. He said finally, another factor which could contribute to the growth failure we were seeing is a syndrome. A syndrome. I thought ok. He then pulled up the Turner Syndrome growth chart. Mia follows it perfectly, at the 50% for girls with Turner Syndrome. She has a broad forehead. Her pinkies curve in on both hands. She has a broad chest. Her elbows are distinct. He said, we needed to test for it. He said, try not to panic. He said, it would explain the learning issues. The bus issues. He mentioned another syndrome to test for, *if* Turner came back negative. He advised me to schedule an appointment with a geneticist.
So here we are, awaiting diagnosis. Awaiting to hear if she will have a high risk of aortic dissection, kidney issues, hearing loss, vision issues, and need growth hormones. I know she needs those special education services in place again. That's a no-brainer, even without this potential diagnosis. I feel overwhelmed. I feel fragile. I feel needy. I was told "you ARE overwhelmed, fragile, and needy. This is NOT a feeling, again, this is the reality of the situation. You are single with 4. You work full time. You are in over your head". I was told this is too big to manufacture my own provision. It is not humanly possible. That things are far beyond my resources, spiritually, financially, emotionally, relationally. That fear, doubt, and insecurity will be part of the journey. And that this is part of a faith journey. My faith journey.
I want to feel back to my self again. I know we will be ok, and that this will just be our life. But I want to feel normal again. I don't want to worry. I don't want to feel overwhelmed. I don't want to feel fragile. I don't want to feel grief. I was told that it will take at least 6-9 months to come to acceptance, and I cannot expect it before then. Um, I wanted to feel back to normal yesterday. I was told I need to give myself time. Time to begin this new normal.
I was told that when Mary said yes to God, she had no clue what she was committing to. I was told that when I said yes to adopting, I also had no clue to what I was committing to. God invites us, and we have a choice, whether to say yes or no. I chose yes. And it was right. I know that. What I am wrestling with, is that I said yes to thalassemia major, and all that it entails. It is a serious diagnosis. Mia qualifies for Make a Wish. Her condition is life threatening. I knew this when I said yes. But a syndrome on top of it? Really? There is only *ONE* other case of beta thal major and Turner syndrome world wide. One. My girl could be the second. Really?
I was reminded that when I said yes to adoption, I was invited. But, I didn't ask for it. I didn't ask for this. Mia didn't ask for this. No one does, really, when saying yes to that invitation from God. So it's where trust comes in. It's where faith comes in. It's where belief that we will be carried, somehow. That God is with us, and He will provide. I cannot deny my reality. And in accepting it, I will find God. I will find Him over and over again.
There have been mercies, signs of God's fingerprints, over the past 9 days. My best friends have listened, supported, researched, and prayed. They have brought me meals, and ran to the supermarket for me when I just couldn't do it. They have brainstormed, coming up with suggestions when I have felt paralyzed. My pastor and his wife dropped everything to come visit, to listen and pray, even though he is on sabbatical. Friends have offered kind words, sent messages. All signs of mercy. Mercy truly is a beautiful thing. If the NP had actually listened to me, and we went to endocrine a year ago, I likely would not have beautiful Hannah with me. It would have been too much to go back for one final adoption. The NP was sent to ensure that Hannah came home first. It was this insight that took my breath away. It was from a friend I have never even met, who pointed out this mercy. Little Hannah is the contrast to grief and sadness, as my pastor so eloquently said. She radiates joy.
I know that things are unfolding as they should. I know that I have been gifted, and that God is good and merciful. I know that I have been uniquely prepared to handle this journey. It doesn't change the fact that this is a hard journey though. And someday, my faith will be stronger. Because His love is stronger. And we are not alone.
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