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.