Searching and hoping...Or searching for hope...

So it has been over a week since we got that phone call that changed our outlook on life. And I have had time almost every day to do a little bit of research. I have tried really hard to not google this...but it is very hard to not google PTEN to discover what others are feeling and going through, and what the most recent research is out there. I feel like I am going through the stages of grief. That probably sounds ridiculously stupid to those out there who have never received any type of diagnosis for you or your child. Or you might even find it stupid if you have received a diagnosis. Don't get me wrong, I am SOO happy that right now, both my children are healthy, and that my husband is healthy. But I have so many fears going through my head, and I am trying to keep them completely hidden. This blog is going to be a reflection for me - a way to get thoughts off my mind. Don't feel like you have to read. Don't judge me by anything you may read. If it offends you or upsets you, stop reading. If you don't know how to handle what I am saying, sorry. But I need this blog to reflect and sort through things. That is how I am going to overcome. That is how we, as a family, are going to grow stronger. I need to be strong through this. Stages of Grief: 1. Shock and Disbelief - I guess I was only in this for a short time frame, like probably 5 minutes. It is so disheartening, though, to know that I have not been in this stage. I can't really say I was ever shocked - I always knew there was something going on. And specialist after specialist couldn't figure out what. And finally, one doctor realized to draw a lab that changed our lives. 2. Pain and Guilt - The pain is there. The pain has been there from the time she has been born. The guilt I have felt thinking that there was something not right. The guilt that I felt when I had relief that we finally had answers. The Pain I feel every day knowing that any day our lives could completely change. That any lump, sickness, or abnormal lab could lead us in a whirlwind because that would mean this new diagnosis has reared its ugly head. And not only for Brooklynn, but also that there is a possibility that Sam or I could be carrying this, and that there might even be the potential that Izzy could have this. 3. Anger and bargainining - I have experienced anger. We don't understand how such a beautiful little girl could have to go through this. Granted, she might not end up getting anything. But I am angry that she has to go through tests her whole entire life. I am angry that I couldn't protect her. I am angry because our lives have changed. I haven't been in the bargaining part of this though - there is no point. You can't bargain your way out of this. 4. Depression, reflection, loneliness - depression yes. reflection, way too much. loneliness, sometimes. I have so many people who have supported us through this. But I feel lonely in my thoughts. I feel lonely because I don't know how much to talk about or to worry about this. I feel lonely because everybody tells me at least we know and can start screening, but I have such an overwhelming sense of fear that I can't away from that easily. I feel depressed because I am allowing myself to get depressed. 5. The upward turn - don't know if I have hit this yet. I get it, and than I go downhill with a day at work. With tears that another mother cries. With another coworker who has found out they have cancer, or tumor, or illness they can't get away from. I am grateful for every day we have that we don't have any diagnosis of "cancer". 6. Reconstruction and working through - this is a day to battle. This is an article by article battle. This is going to be a completely new way of looking at life. Preventative living is what we have to do now. We have to reconstruct the way we live to try to prevent the possibility of the tumors of growing. We have to live healthy. We have to live strong. 7. Acceptance and Hope - I am hopeful. Don't get me wrong. I am hopeful that we never have any terrible diagnosis. I am hopeful that Brooklynn continues to grow and develop. I am hopeful that Sam does not get the positive test result. I am hopeful that I don't get the positive test result. I am hopeful that if either of us do, that we don't have any signs of cancer. I am hopeful if we do, that Izzy doesn't have this. I am hopeful that if we don't, we can figure out if another baby is in our future. I am hopeful that if we do, we are accepting of the fact that the 2 girls are going to continue to be our only world. This might seem silly to some that I am thinking about other children at a time like this, but we always imagined a large family, and that dream in itself is no longer possible (at least right now). Go back to stage 1, 2, 3, and 4 for this realization. I am accepting that we have this answer, so now we have to figure out what this means. But than I go right back to the other stages. Seems silly to be in the stages of grief when my 2 beautiful girls are running around being crazy and laughing and enjoying life. I am really trying to enjoy every minute that we are all healthy. I feel crazy some days. I feel like my thoughts are all over the place. I never feel 100% in the moment. I hope tomorrow when we go to genetics we have some more answers, or at least better answers. I hope every day I get a little closer to being in stage 7, fully and completely. I don't know if that will ever happen, but I am hopeful.

Article

So when you research anything on google, there is a wide range of what you might find. So as I have been doing research, I am finding so many articles that are very informative. But I wanted to know from genetics clinic standpoint what is a good article/website that is consistent with her gene mutation. Here is a link to what I was provided. It gives good tables, percentage risks, and just a general overview. Just thought I would post for those who would be interested r.

Genetics Phone Call

We received a phone call from the genetics counselor. One of Brooklynn's labs finally came back. We were excited because her microarray (the test that looks at the pieces of her DNA) were normal. However, it did come back with an incidental finding. We found out she is a carrier for something called Alpha 5 reductase deficiency. So what does this mean? It means that if she marries someone that is also a carrier, they have a 1 in 4 chance of having a baby who has this disorder. This disorder can cause problems if it's a boy that is born, and they will be born without testosterone. This also means that more than likely, at least one of us is a carrier. There is a small possibility that both of us are a carrier, and we just haven't seen it because we have 2 girls. So now we have to decide if we are going to be tested. We have decided that there is a possibility that we will want to have more kids - but if we find out we are both carriers, there is no way we are going to risk this by having another child. We are supposed to meet with the genetics counselor once that PTEN gene is back. We will find out more information at this time. While I am glad that her microarray came back normal, it stinks that we found out this "incidental" finding and knowing what to do with that information. It is still doesn't explain her other symptoms and things, so the PTEN test results might still show something, which stinks. Guess we will have to wait until October when those results come back.

Our life Is Different Now...

So I know people are wondering about my post today on Facebook. Well, the biggest reason for that post was we got a phone call on Monday. Brooklynn's labs came back. It was positive for the PTEN Gene Mutation. What does this mean? It could possibly mean a lot. One thing it means is that we finally have an answer to some of her medical problems. After 2 1/2 years of 8 specialty visits, and 3 1/2 months of waiting test results, we have an answer. I was just hoping it was negative. When they told us they were going to test her for this mutation, I of course got online and researched it. And I got on a blog called PTENlife.com. And as I read, my heart dropped a little with each kid. They had such similar stories to us. Their children were born large for their gestational age (Brooklynn weighed in at 8lbs, 6 ounces 4 weeks early). Their children's heads grew quickly, and went through a large range of tests, including CT scans, neurosurgery consults, genetics consults, mucopolysaccharidosis screening, and all came back negative. Their children have speech/developmental delays. Their children have large tonsils, asthma, and the same facial features (depressed nasal bridge, down slanted eyes), low muscle tone (Brooklynn has a weak upper torso). I kept saying that I was reading too much into the blog. You can find similarities any where if you look hard enough. But when I saw the boy on the front of the website, I just knew in the bottom of my heart that this was going to come back positive. And it did. Unfortunately, that voice in the back of my head that was telling me that there was something there, and to not stop looking until we have an answer - well that bitch was right (sorry for the cursing - but I so wanted that bitch to be wrong). Taken from the blog itself, here are some of the things that this gene mutation can cause..."A PTEN gene mutation causes tumors and growths in the body (particluarly in the thyroid and GI tract) since it is the tumor suppressor gene. According to published medical literature, other characteristics of the syndrome include macrocephaly (large head), low muscle tone, excessive drooling, vascular malformations [blood vessel abnormalities], lipomatosis [abnormal localized or tumorlike accumulations of fat in the tissues], hemangiomas [benign, and usually a self-involuting tumor, (swelling or growth) of the endothelial cells that line blood vessels], intestinal polyposis, high birth weight, proximal muscle myopathy, joint hyperextensibility, pectus excavatum, scoliosis , certain eye abnormalities, and in some cases developmental issues (which may meet the criteria for Autism) and mental retardation. Brown spots in the genital area are also characteristic. Certain benign skin lesions on the face, mouth, hands and feet are also characteristic (oral lesions, facial papules, and acral and palmoplantar keratoses). A person with a PTEN mutation may have some, all or none of these issues, and in varying degrees of severity." From another website, I found some statistics: - Abnormalities of the thyroid are present in about 60% of patients. These are usually harmless growths but occasionally may be cancerous. - Breast tumours: These are the most important non-cutaneous association. Fibrocystic disease resulting in benign lumps in the breasts is present in about 75% of women. Breast cancer occurs in 20-36% of patients. - Gastrointestinal polyps and other abnormalities are present in about 72% of patients. - Genitourinary tract involvement may include ovarian cysts and cancers. - Central nervous system – development of Lhermitte-Duclos disease caused by hamartomatous growths of the cerebellum (rare). - Skeletal abnormalities such as bone cysts. At least 40% of patients with Cowden disease have at least one cancer. There are varying degrees of the gene mutation, and we haven't met with the genetics counselor to find out exactly what part she has. But she said it is most consistent with the Cowden disease - which is the highest risk of getting cancer sometime in her life. She will have to have yearly thyroid ultrasounds from here on out. She will have to have yearly dermatology exams for the rest of her life. When she gets older, she will have to have earlier screenings for breast cancer. The risk for colorectal cancer is increased. The risk for intestinal polyps is high - so if she has abnormal stools we will have to start doing screening for those. She is at higher risk for having behavioral, social, or developmental problems. They see this a lot in autistic kids. When it comes time for her to think about having children, she has a 50% chance she will pass this gene on to her own kids. One of us might also have this mutation, so Sam will be tested first, and if his comes back negative, than I have to be tested. If either of us have a positive test, other family members might need to be tested. And we have a 50% chance of passing it on if we have any more kids (which we won't if this is found in either of us). This is life changing. This is stressful. This is crappy. This ultimately sucks! It could mean that nothing happens to her. But this could mean that something does. And to a mom, that statistic does not feel good. It hurts my heart. It wrecks me. It makes me cry every other hour. It makes me hate the world, and makes me angry. It makes me sad. I hate my insurance company - they denied to pay for this. This makes me grateful to the genetics at CMH, they knew a place to send the gene that would not break our pocket book. If it wasn't for their perseverence, we might not have had this test. And we might have caught something too late. If nothing else, I am grateful we know this is what she has, and we can make sure we screen her and watch her close, so if she did develop cancer, we would hopefully catch it early. I am a mother who is at a loss for words, but than has too many she wants to speak. I am a mom who wants to hug her children that much tighter, and keep my family close forever. I am done blogging now - I want to go be with my children and love on them and play with them, and let Brooklynn be a little girl, for as long as she possibly can be little.

My Patience Is Thin...And FirstSteps Update!

So we have been waiting...and waiting...and waiting to find out results from Genetics Labs. We had to wait on insurance to approve (or not) for 3 weeks before we got the denial. Than we decided to go ahead and send the labs and pay out of pocket. Well, just found out that the order never got placed for them to send out the labs, so we have been waiting 3 more weeks to find out that the timeline is getting started AGAIN! So they just FINALLY sent out the labs to GeneDx lab in California last week. Which means we still have 4-8 weeks to find out the results. I find myself to be somewhat of a patient person (mostly). But my patience is running thin. I don't know if I can handle any more hurdles to getting these results. I know the results don't really change anything, except maybe an understanding of what is going on - or another test that proves everything is just fine. FirstSteps has been coming to our house for about a month now. And I feel like it is one of the best things we have done for Brooklynn. Her vocabulary is starting to take off. She is attempting to use more words than ever before. They might not be 100% clear, but she is attempting to talk a lot more which is encouraging. We are working on some of the behaviors she has - such as being able to sit and concentrate on things that she might not want to do. Firststeps is giving us things that we can work on at home, which makes it nice to know that we can continue to foster her development. I am excited to see how much more improvements she can make. The girls start school in a couple of weeks. Izzy is so excited to be a big girl and go to Pre-K. Mommy's not so sure she is ready for this big step yet! And Brooklynn has no idea she is starting school, and mommy is really nervous for this big milestone as well. School will really help us, though, in determining if her behavior things are really something to worry about, or if she will adjust to a schedule and expectations that school presents her. We get to meet their teachers next week which I am very excited for! Life has been full of exciting and fun things this summer. The girls are growing every day, and discovering more and growing so much! I am loving every minute of this parenthood thing - even the difficult, trying times.

Waiting game extended...

Well, insurance company - you are not my favorite people in the world right now. So you decide to deny all the genetics testing, that's fine I guess I have to deal with it. But you wait until the final day (a full 30 days) to tell us you deny it? What frustrates me the most about this (besides the obvious that now insurance won't cover it, and now we have to pay out of pocket for a test that a DOCTOR recommends)is that now we are in the same situation we would have been in 15-30 days ago if you had denied then, but a month later in getting results. Now don't get me wrong - one month isn't that big of a deal in the grand scheme of things. We have been waiting almost 2 1/2 years. But we could have had results of one of the tests by now...or close to it. Now we are going to have to wait another 4 weeks for one test (microarray) and 6-8 weeks for another test (gene testing). They have to send out to a different laboratory, that offers genetic testing at a significant cheaper price ($100 per test, one of the tests costs $4000 if they didn't provide this financial assistance). Still a LOT more than we were hoping to pay. But the genetic doctors very strongly that we should send this lab. Than we might have some answers, and be able to provide Brooklynn with the appropriate services. So we will be sending them out tomorrow. And than we will wait some more. Brooklynn had her first 1st steps therapy session yesterday and I would classify it has not TOO successful. She was in full force stubborn mode! She didn't want to do anything, she didn't want to copy, and she just wanted to grab for everything she wasn't supposed to. We do have some tasks to work on now, which feels good. We need to try to get her to use the sign or say "More" when she wants stuff, instead of just getting it for her. This will help with both her speach, and also her ability to relax and wait for something which should hopefully help her attention span. This might be hard - as we give in to her pretty often. Who wouldn't, she is just so darn cute!! Isabella was super excited about the therapy session, because now she can be a "teacher" and help her sister with words. This ought to be great fun. Isabella has started getting an "allowance" which is kind of fun now too. She has a chore chart, which she has to do 6 chores throughout the week (this is simple stuff such as put her dirty dishes in the sink, put her clothes in the laundry basket, eat all her dinner, brush her teeth, pick up her toys when she is done, and keep her room picked up). She is SOOO excited about this. The amount of stars she gets determine the amount of money she gets for her allowance at the end of the week. Right now, we are going to go broke as she is SOO excited to do her chores (last week I owed her $5). I think this will go away as the weeks go on. But she will have a save bank and a spend bank. She got to put that money in her spend bank, and next week she has to put it in her save bank. She already knows she wants to buy legos with her money - she has a ways to go. But I think I am as excited for this as she is! I can't wait until Brooklynn can join in. The toys are getting picked up a lot easier than they used to :).

Brooklynn's ENT Appointment

I forgot to post about Brooklynn's ENT appointment yesterday. I like to write this stuff down, mostly for myself, as I usually forget what was mentioned, so this is more for me to remember :). She still has her left tube in, and her right ear still looks great (this tube had been removed as it was falling out). She will keep it until it either falls out or April of 2013. If it is not out, we will either remove it in the office, or have to take her back to surgery to have it taken out and the hole sewn up. Her tonsils are still enlarged (they always have been). On a scale of 0-4, she is a 3. He said 4 is touching, and three is where you can see the uvula and there is a little space. She has not been snoring, and has not had any cases of strep, so he doesn't feel like we need to take them out yet. He said if she starts snoring, having trouble with sleeping, and we notice a behavior change than he will take it out (I guess they only remove about 60%? of the tonsil or something). If she has 5 strep throat cases in 1 year or 8 in 2 years they will remove 40%(?) of the tonsil. Other than that he said things look good. I am SOO happy we made the decision to have her tubes placed because ever since she had them, she has not had hardly any ear infections (in the first 11 months of her life she had 8 infections, and after her tubes were placed on February of last year, she has only had 2). Such a good feeling to know we made the right decision.