New Year, New Adventures

I am excited to see what 2010 has in store for this Cherry family. This is my first experience with blogging and I am eager to share my story - both the joys and sorrows. I will try to catch you up on the past year without too many medical details, and of course if you have any questions, please feel free to ask!



Kris & I had considered getting pregnant at the end of last year, but we had a few setbacks once I started getting routine blood work done in the Spring so we pushed our time frame back a bit. My main purpose for starting that far in advance was because I really didn't have an idea on what issues, if any, ran in my family. I have no sisters, aunts, or cousins to talk with and according to my mom and grandmothers, there was no history of complications. Much to my dismay my OBGYN called me around July and informed me that I had something called PCOS (Polycystic Ovary Syndrome) - this was the beginning of my research ..... PCOS is a hormonal condition of unknown cause that affects about 5-10% of women. It can be pretty confusing because PCOS is not always characterized by polycystic ovaries, but rather by a range of issues that can include: irregular periods, acne, excess hair growth, infertility and the possible development of diabetes. After getting this diagnosis, I did as much research as possible and found a variety of other conditions that were connected to PCOS.



The next month my sister-in-law, who was almost 7 months pregnant, lost her baby and discovered she had a single copy of the MTHFR C677 mutation. I did even more research and found that there were some connections with MTHFR and PCOS. For my own peace of mind, I pushed my OBGYN do a even more blood work (19 vials) and test for a variety of conditions. When those results came back, I was informed I had a single copy of the A1298C MTHFR mutation. MTHFR stands for Methlyenetetrahydrofolate reductace. Heterozygosity (single copy - from one parent) of both mutations occurs in about 20% of the Caucasian population. Homozygosity (double copy - from both parents) results in a 2-3 fold risk of folate-sensitive neural tube defects. Both mutations have been implicated as risk factors for neural tube defects (such as spinal bifida, etc) and unexplained, recurrent embryo losses in early pregnancy (although this connection is still pretty controversial). The A1298C mutation has also been linked to the development of cancers and leukaemias, as well Alzheimer's disease and migraines. Because MTHFR mutations affect the absorption of Folic Acid in the body, my doctor prescribed I take 4mg of Folic Acid daily in addition to my regular vitamins.



About a month later the last of the my test results came back (chromosomal) and yet another label was given - I am a Reciprocal (Balanced) Chromosomal Translocation carrier on the long arms of chromosomes 7 & 16 (that's a mouthfull!). I met with two different Genetic Counselors and discussed the risks, my options and did even more research. A chromosome translocation is an abnormality caused by rearrangement of parts between nonhomologous chromosomes - in my case, parts of chromosomes 7 & 16 have basically switched places. It is harmless to me, but because I am a carrier, I have an increased risk of creating gametes with unbalanced chromosome translocations which lead to miscarriage or children with mental retardation and/or birth defects due to the imbalance of chromosomes 7 & 16 (because there could be too much or too little chromosomal (genetic) material). My risks are much higher than my age-related risks and therefore I have a medical necessity for something called PGD.



PGD (Preimplantation Genetic Diagnosis) is a reproductive technology used to identify genetic defects in embryos created through in vitro fertiization (IVF) cycles. This technique is used when one or both parents have a known genetic abnormality. Basically, before implanting embryos, they will be tested to make sure they have the correct number of chromosomes and are not unbalanced - therefore only using normal embryos to create a pregnancy. Kris & I have decided after much consideration that we will be going through the whole IVF/PGD process to help reduce the risks associated with everything I have been diagnosed with. Our insurance is absolutely amazing and will be covering it all - such a blessing and answer to prayer!



Last week I had a vaginal ultrasound to check my ovaries and make sure there were no cysts, check the eggs, etc. Everything looked great - yes! Tomorrow (01/15/10) I will be having a hysteroscopy. Here is the information they gave me .. aren't I lucky??? "Hysteroscopy is a direct visualization of the uterine cavity, i.e. looking inside the womb by using a hysteroscope. The hysteroscopy is an instrument somewhat like a miniature telescope with a fiber optic system which brings light into the womb...Water is put into the uterus under a low pressure in order to help your doctor inspect the uterine cavity. The water helps to separate the front and back sides of the uterine cavity, making it easier for the physical to see the inside of the uterus." Please keep Kris & I in your thoughts and prayers (especially me tomorrow!). I am nervous, excited, and anxious about this whole process and hope that everything goes as smoothly as possible.