Thank you, thank you, thank you, a million times thank you to everyone who has reached out to us during the last several weeks. I cannot tell you how much our family has been strengthened and uplifted by your support and prayers, not only for Micah, but also for Jake and me. Since posting my last entry, I have felt a peace and calm that I didn't think was possible, given the situation. For months and months I had been experiencing high levels of anxiety, causing insomnia and even panic attacks. Over the last month, my anxiety has all but disappeared. I KNOW that I have been blessed in this way because of prayer. I have been so humbled by seeing this work in my life. So when I tell you thank you for your prayers, I MEAN IT. There aren't words to describe my gratitude. I have been in awe by all those who have contacted us and offered help in every way. Thank you. We are so grateful.
We had Micah's first appointment at the Muscular Dystrophy clinic at Stanford. We met with the director there, Dr. Day, as well as about 75 (only slight exaggeration) other people who will be working with Micah. Micah's diagnosis of Duchenne Muscular Dystrophy was confirmed by result of a genetic test. I still don't know if I am a carrier of MD, or if Micah's X chromosome just had a spontaneous mutation. In the end it doesn't really matter, but I am being tested to see if I am a carrier, and I think I will get those results back in the next week or two. I also wanted to have Georgia tested to see if she is a carrier, but the genetic counselor advised against it, for several (good) reasons, so we will let her make that decision when she is an adult.
Micah has been making some good progress lately with his speech and fine motor skills. His doctor told us that he will continue to make progress for a few years before he begins to decline. The reason for this is because while dystrophin (which his body does not produce) is the largest protein in the body, there are also smaller proteins that his body does make, and for now, they can compensate, to a certain degree, for the lack of dystrophin. We were also told that while DMD is affecting his cognitive abilities (which are causing his problems with speech), he will not experience decline in those areas. He said it is like a learning disability, and that we can learn ways to work around it. He did say that boys with DMD often have a difficult time learning to read, so we will be aware of that.
He also talked to us about some drug trials that are currently under way. The results of these trials have been very promising. We are hopeful that these drugs will be approved in the next few years, and are praying that Micah will start treatment before he loses mobility, to preserve the muscle tissue he has. It is a bit difficult for me to explain on a blog what these drugs are and how they work, but if you want to know more, you can search exon skipping AON treatment. In a nutshell, the drug, given via injection, causes the genetic code to skip over the part of the gene (called an exon) that has been deleted, which results in production of dystrophin. Like I said, the results have been very promising, and we are hoping and praying that Micah will have access to this treatment as soon as possible.
In the meantime, we are on a short break from all of his therapies. Starting in August and September, Micah will begin physical, occupational, and speech therapy from a new team of therapists, as well as a special education preschool. Things will be busy! But we are used to busy, and at least now we know what we are working with, and can make appropriate goals and expectations.
Thank you again for your prayers and support and love. I can never tell you how much it means to us, and how much we have been blessed as a result. We feel so fortunate to have such loving and caring friends and family. Thank you from the bottom of my heart.
Wednesday, July 18, 2012
Monday, June 4, 2012
The answer I never wanted
Thank you all for your kind and encouraging comments, texts, messages, emails, texts and phone calls following my last post. Your support means so much, and I feel so lucky to have such wonderful family and friends.
Here is what has happened since I last wrote. Micah finally had the long-awaited full diagnostic developmental evaluation at Stanford. The evaluation lasted three hours and covered essentially every area of development. I got more bad news there, his development in every area was falling further behind, and I was told that Micah has a Global Developmental Delay. While his doctor (Dr. L) was observing his physical abilities, another doctor (a neuromuscular specialist) happened to pass by and Micah caught her eye. She had him walk up the stairs several times, and looked concerned as she watched him run and get up from the floor. She commented on his muscular legs, and told Dr. L to have his muscle enzymes checked and that was that. I didn't think too much of it. We left the appointment with a long list of blood tests we should get done, to rule out any genetic issues. She also wanted Micah to visit the neurologist. Leaving that appointment, I thought GDD was going to be the final diagnosis, and was focused on that.
We visited the neurologist, Dr. D. She didn't talk to me about anything specific, just did a short physical evaluation. She also said we should get the muscle enzyme test done in the next few days, and that she would see us for a follow up in a few months, as long as his muscle enzyme levels were normal.
Since I'm the curious type, I googled the blood test she wanted Micah to have, along with her comments about Micah's muscular calves. It was then that I realized what she and the other doctors weren't saying. Micah was being tested for Muscular Dystrophy. My initial reaction was one of disbelief. There was no way that Micah had MD. I didn't know much about MD but I assumed it was something that would have been evident at birth and something I would have known about by now.
But the more I read, the more discouraged I became. We had to wait for several days for the results, but I already knew the outcome. I felt like I had been kicked in the stomach. When his neurologist finally called with the blood test results, there was no shock when she told me the news. We agreed to meet the next day to discuss the next steps. I hung up the phone and just started crying. I felt like Micah had received a death sentence. In my mind, I knew that Micah was the same kid as he was the day before, that nothing had really changed, after all, Micah has had MD since he was just a couple of cells. And yet, everything had been turned upside down with this diagnosis.
We met with his neurologist the next day who explained that we needed to do a genetic test to determine exactly what type of MD he has. Based on his symptoms and history, we pretty much know that he has Duchenne Muscular Dystrophy, the most common, and severe, type. We will know for sure in a few weeks when we get the genetic test results back. She was able to answer some of our questions and explained that Stanford has an excellent MD clinic. We have our first appointment there in a month, and hope to get more answers at that time.
I'm feeling pretty low at this point. I've been on an emotional roller coaster for the last few weeks. I have moments where I can't stop crying, and am a hysterical mess, and moments where I feel total peace and comfort and hope. Mostly, I am just incredibly sad. I've had to completely ban myself from google, as nothing good comes from my searches. I get very overwhelmed when I try to think about the future, so I try as hard as I can not to. Approximately 47892 times a day, I tell myself, "just take it one day at a time." Today is all I am emotionally capable of dealing with.
From what we have been told, while there is currently no cure, there is some hope in experimental treatments. I will write more about that after he starts going to the MD clinic in July. I don't really know any details, but I am extremely hopeful that there is something out there that can help Micah.
Things are hard right now. I hope they will get easier as all of this sinks in. I do have a positive attitude, and take comfort in my faith of God's plan. I know that He is watching out for Micah and our family. I know He loves us. Even with all the sadness that I feel, I also feel assurance that we are being watched over and cared for, and that somehow, everything is going to be okay. We are extremely grateful for the prayers and fasting and support that we have received, it has strengthened us and means so much.
Please pray for Micah. Please pray for his mom and dad, too. We need it.
Tuesday, March 6, 2012
I apologize in advance for the whining...
I need a little vent today. I will eventually get to the posts about family life with pictures and fun stuff, but not today. Today I need to talk about Micah. And this is long winded and more than a little boring, so consider yourself warned.
OK. So, Micah is my challenge. We have established this, yes? He is as extremely happy and charming and hilarious as he is angry and sad and frustrating. He is just extreme. But his emotions come and go quickly, and I'm used to the moods. NBD. But he is also my challenge in that he has been delayed in every area developmentally. I had an inkling something might be wrong around the time of his first birthday, but decided to wait it out and see. By the time he started walking at 20 months, I knew something was wrong and started pushing to get him evaluated. I was told to wait and see, and then wait and see some more. He still wasn't talking by 2, so at that time I was finally able to get an assessment. I was told that he had speech and motor delays, and we were approved to get speech therapy started. We started speech therapy in September. I was so hopeful that we would finally start to see improvements. After a some initial improvements in his non-verbal communication (eye contact, etc), I feel like we have completely stalled. It got to the point where I would leave every therapy session overwhelmed with anxiety and crying the whole 30 minute drive home. It is so hard to feel like I am working so hard on something (getting Micah to talk and meet his speech goals), and no matter what I do, NOTHING HAPPENS. He meets none of his goals, in fact his goals are often revised to be less ambitious, and then he doesn't meet those goals either. Let me put it this way: when he was first evaluated he was given a developmental age of 12-15 months (he was 25 months at the time, so a 50% delay). At his 6 month review (when he was 31 months), he was given a developmental age of 12-15 months. The same as he was 6 months prior. He has gone from a "moderate delay" to a "significant delay." We started doing more speech therapy and still nothing. Its so hard to go to class and see kids who are just starting the program, barely two years old and making these huge leaps in their abilities. I feel like every time I go to his class I leave with more bad news and feeling more discouraged than ever. I have been having terrible anxiety, especially on the days he has class. And just to be clear, the speech therapist is wonderful and sensitive and kind and capable and none of this is about her. I really think she is a good fit for Micah and me. She has been really helpful.
After about a month or two in her program, she started expressing concerns about his physical development. But because everything is hard to get approved and get moving, it was only today that he finally had his physical therapy evaluation. His initial evaluation showed that he had delays in this area as well, but I was pushing so hard to get the speech therapy approved, I didn't push for PT services as much as I should have (nothing gets approved unless you fight hard for it). Anyway, his physical development (large motor skills) is at 16 months. Also, 50% delay. She said this qualifies him for PT services, and I was so excited. And then I felt bad because I was excited that my kid is so badly off that he needs this therapy. I mean, obviously I don't want him to be delayed, but he IS, so I was just happy that he is approved for services. Both the PT and the SLP (speech) have also recommended occupational therapy (small motor skills), but I don't want to overwhelm Micah.
The services are currently being paid for by the state, but the services are only available to kids under three. Once he turns three, the case is turned over to the school district. It is notoriously difficult to get services through the district. There is no money and programs are getting cut all over the place because of the continuous budget cuts. His social worker (manages his case, coordinates services and evaluations), his speech therapist and the physical therapist have all given me reason to believe that he will continue to qualify for for services through the district once he turns three. Again, I shouldn't be happy about this, but I am.
The one bright spot is that everyone he has met with has been very quick to tell me that he does not have autism. Which really does put my mind at ease. Micah is extremely affectionate and loving, so that is why autism has been ruled out. There is no diagnosis for what is going on, other than that he is delayed. We have more extensive evaluations coming up in May, and I am hoping to get some more answers as to what is going on and what I can expect in terms of future progress.
I'm just so frustrated right now because I feel like none of the work and effort that we are all putting in is doing any good whatsoever. The pediatric developmental specialist (M.D.) that did his initial evaluation told me that we would likely start to see big improvements after 3-4 months of treatment. It has been 7 months and we have seen hardly any improvement. I am starting to get really discouraged and feeling like this is all a huge waste of time. Jake pointed out that at least I know I have done everything I can, which the logical part of me knows is true. This does give me some peace of mind. But its so hard not blame myself and torture myself and ask over and over and over "what am I doing wrong??? What am I NOT doing???" Its hard not to take responsibility for Micah's behavior. But I'm his mother for crying out loud. Its what I do. I just can't shake the feeling that this is all my fault and that there was something, somewhere that I did or didn't do that screwed him up. I feel like a terrible mom. I have to tell myself constantly that this isn't the case, and maybe if I say it enough I will start to believe it.
And yes, I KNOW that things could be far worse. That I really have it easy compared to other kids and other families. There are an infinite number of things that could be going on in my life or going on with my kids that are so much more serious and scary and difficult. I know that, and I am truly, truly grateful that things aren't worse. I know they could be. But this is my life and my kids and I want them to be happy and well and complete and whole, and its hard for me that they aren't. So I don't need to be reminded that "it could be worse." I know that. I know I am being overdramatic and blowing things out of proportion, but when it comes to my kids, thats kind of the direction I always take. I'm working on it.
There really is no point of this post except for me to whine and complain and maybe someone reading this has some wonderful experience where you/your sister/your friend/anyone you know was in a similar situation and everything ended up perfect and wonderful and the child was totally caught up to his/her peers after a few years? Anyone? Anyone? I really do appreciate when people tell me stories with good endings. And maybe that would help me remember that I am not an awful mom and doing everything wrong and that all my efforts are not in vain. Because most of the time I'm not so sure.
OK. So, Micah is my challenge. We have established this, yes? He is as extremely happy and charming and hilarious as he is angry and sad and frustrating. He is just extreme. But his emotions come and go quickly, and I'm used to the moods. NBD. But he is also my challenge in that he has been delayed in every area developmentally. I had an inkling something might be wrong around the time of his first birthday, but decided to wait it out and see. By the time he started walking at 20 months, I knew something was wrong and started pushing to get him evaluated. I was told to wait and see, and then wait and see some more. He still wasn't talking by 2, so at that time I was finally able to get an assessment. I was told that he had speech and motor delays, and we were approved to get speech therapy started. We started speech therapy in September. I was so hopeful that we would finally start to see improvements. After a some initial improvements in his non-verbal communication (eye contact, etc), I feel like we have completely stalled. It got to the point where I would leave every therapy session overwhelmed with anxiety and crying the whole 30 minute drive home. It is so hard to feel like I am working so hard on something (getting Micah to talk and meet his speech goals), and no matter what I do, NOTHING HAPPENS. He meets none of his goals, in fact his goals are often revised to be less ambitious, and then he doesn't meet those goals either. Let me put it this way: when he was first evaluated he was given a developmental age of 12-15 months (he was 25 months at the time, so a 50% delay). At his 6 month review (when he was 31 months), he was given a developmental age of 12-15 months. The same as he was 6 months prior. He has gone from a "moderate delay" to a "significant delay." We started doing more speech therapy and still nothing. Its so hard to go to class and see kids who are just starting the program, barely two years old and making these huge leaps in their abilities. I feel like every time I go to his class I leave with more bad news and feeling more discouraged than ever. I have been having terrible anxiety, especially on the days he has class. And just to be clear, the speech therapist is wonderful and sensitive and kind and capable and none of this is about her. I really think she is a good fit for Micah and me. She has been really helpful.
After about a month or two in her program, she started expressing concerns about his physical development. But because everything is hard to get approved and get moving, it was only today that he finally had his physical therapy evaluation. His initial evaluation showed that he had delays in this area as well, but I was pushing so hard to get the speech therapy approved, I didn't push for PT services as much as I should have (nothing gets approved unless you fight hard for it). Anyway, his physical development (large motor skills) is at 16 months. Also, 50% delay. She said this qualifies him for PT services, and I was so excited. And then I felt bad because I was excited that my kid is so badly off that he needs this therapy. I mean, obviously I don't want him to be delayed, but he IS, so I was just happy that he is approved for services. Both the PT and the SLP (speech) have also recommended occupational therapy (small motor skills), but I don't want to overwhelm Micah.
The services are currently being paid for by the state, but the services are only available to kids under three. Once he turns three, the case is turned over to the school district. It is notoriously difficult to get services through the district. There is no money and programs are getting cut all over the place because of the continuous budget cuts. His social worker (manages his case, coordinates services and evaluations), his speech therapist and the physical therapist have all given me reason to believe that he will continue to qualify for for services through the district once he turns three. Again, I shouldn't be happy about this, but I am.
The one bright spot is that everyone he has met with has been very quick to tell me that he does not have autism. Which really does put my mind at ease. Micah is extremely affectionate and loving, so that is why autism has been ruled out. There is no diagnosis for what is going on, other than that he is delayed. We have more extensive evaluations coming up in May, and I am hoping to get some more answers as to what is going on and what I can expect in terms of future progress.
I'm just so frustrated right now because I feel like none of the work and effort that we are all putting in is doing any good whatsoever. The pediatric developmental specialist (M.D.) that did his initial evaluation told me that we would likely start to see big improvements after 3-4 months of treatment. It has been 7 months and we have seen hardly any improvement. I am starting to get really discouraged and feeling like this is all a huge waste of time. Jake pointed out that at least I know I have done everything I can, which the logical part of me knows is true. This does give me some peace of mind. But its so hard not blame myself and torture myself and ask over and over and over "what am I doing wrong??? What am I NOT doing???" Its hard not to take responsibility for Micah's behavior. But I'm his mother for crying out loud. Its what I do. I just can't shake the feeling that this is all my fault and that there was something, somewhere that I did or didn't do that screwed him up. I feel like a terrible mom. I have to tell myself constantly that this isn't the case, and maybe if I say it enough I will start to believe it.
And yes, I KNOW that things could be far worse. That I really have it easy compared to other kids and other families. There are an infinite number of things that could be going on in my life or going on with my kids that are so much more serious and scary and difficult. I know that, and I am truly, truly grateful that things aren't worse. I know they could be. But this is my life and my kids and I want them to be happy and well and complete and whole, and its hard for me that they aren't. So I don't need to be reminded that "it could be worse." I know that. I know I am being overdramatic and blowing things out of proportion, but when it comes to my kids, thats kind of the direction I always take. I'm working on it.
There really is no point of this post except for me to whine and complain and maybe someone reading this has some wonderful experience where you/your sister/your friend/anyone you know was in a similar situation and everything ended up perfect and wonderful and the child was totally caught up to his/her peers after a few years? Anyone? Anyone? I really do appreciate when people tell me stories with good endings. And maybe that would help me remember that I am not an awful mom and doing everything wrong and that all my efforts are not in vain. Because most of the time I'm not so sure.
Subscribe to:
Posts (Atom)
