Well, I have debating whether or not I should speak about what has recently happened to our little family. After thinking about it and talking about it with Clayton we have come to the conclusion that writing about it and speaking about what has happened will help us heal. So here it goes....
On August 16, 2012 I found out that we were expecting another precious baby!! We couldn't be happier and I even have Clayton's reaction to how I told him he was going to be another daddy all on video. Everything in my pregnancy was going so smoothly. I had all of the symptoms one would have in early pregnancy. My morning sickness was literally ALL day sickness, but I couldn't be happier. It is all worth it. We went it for our first OB appointment on Sept. 7, 2012 where my blood levels were perfect and we saw our little bean on the ultrasound with a strong heartbeat. This is when we told Abigail she was going to be a big sister and I have never seen a 3 year old SO excited to be a big sister. She would constantly kiss my belly and say, "Big sister loves you baby brother or sister", or she would say, "I love you so much, baby". She started telling random strangers at the grocery store that "Mommy has my baby in her belly". She started setting her toys aside for the new baby and wanted to go shopping for the baby. I never thought she would actually understand what was happening or get so excited. Everything was going great...more than great.
Well, it was 3:30pm, September 25, 2012 (about 9 1/2 weeks pregnant) when I just didn't feel right. I started having mild cramps and even though I still had major symptoms of being/feeling pregnant (morning sickness, breast tenderness...you know the drill) I just had a bad feeling and began bawling. Later that evening I told Clayton I wanted to go to the ER to check things out because I had a "bad feeling" and usually my "feelings" are always almost accurate. We went to the ER where the doctors checked my blood levels, urine and then a transvaginal ultrasound. After waiting for 2 hours in the hospital room the doctor came in and shook his head with a sad face. As soon as I saw him I began bawling hysterically. I don't even remember what he had said but I knew that my baby was gone. Even writing this brings back the tears but I think it is what I need to do to heal. Anyway, nurse after nurse came in to try to comfort me but all I wanted to do was curl up into a ball and just cry. Once we got home I saw my sweet Abigail and started to cry again. My mother was there taking care of Abigail while we were at the hospital and I just dropped everything and ran into her arms and together we cried. I tried not to let Abigail see me but she knew something was up. She wanted me to hold her and as I was holding her she said, "Mommy, I am so sorry the baby is sick"...."God didn't mean it". I couldn't hold back the tears and I just held my precious Abigail for 5 minutes or more. I didn't want to let go.
On September 26, 2012, (Ironic that 10 years ago on this day, Clayton and I first met in college and have been together ever since) my body started the process of miscarrying the baby. I couldn't go into work on this day because I was just a complete emotional wreck all day. Luckily, Abigail was at school where her wonderful teachers were with her.
On September 27, 2012 my body was in full blown miscarriage mode. I felt horrible cramps that felt like contractions for about 6 hours. I apologize for TMI, but there is no other way to explain a miscarriage without it. After about 6 hours of agonizing cramps and contractions I passed the baby and placenta at around 3:30 pm after I gave blood for another hCg level reading. Once the baby and placent had passed I no longer had intense cramps and contractions. It was kind of like when you have a baby. I once again was an emotional wreck. The theme this week in our household is "Brooke = crying". I miss the baby that was growing inside me. I am so saddened that I couldn't keep him or her safe and that his or her life could not make it for whatever reasons. April 25, 2012 would have been the due date so this will be a very hard day for me for sure. Life does go on, but I will never forget this baby and I am eased in knowing that I will see my baby again one day. Everyday is a new day and I feel so incredibly Blessed to have our beautiful Abigail in our lives. What a miracle she is. It is now September 29, 2012 and although I am still sad and going through this, I feel a little bit better. I know that God does not make mistakes and He has a plan for our family.
I will continue to go to the doctor to have my hCg levels checked until they reach below 5. On Thursday my levels were 2800 and for a normal 9 week pregnant woman they are usually 300,000....so they have certainly dropped. I have a follow up OB appointment with my doctor on October 12, 2012 to make sure everything has been passed. I will keep you posted on how things are going.
Aside from all of what has happened to us this, Abigail had a bad fall with her daddy on September 7,2012 and broke her right tibia and fibula. She has been in a hot pink cast since September 12th and it finally gets to come off on October 9th!!!
There is never really a dull moment in our little family. :-) We are looking forward to the future and God's plan for the Wisian family.
Thank you for your thoughts and prayers.
Saturday, September 29, 2012
Friday, August 10, 2012
Abigail is Three Years Old...Where does the time go?
Okay, so last night I couldn't really fall asleep. In fact, most every night I have a hard time falling asleep because I get a little sad. Sad for my Abigail. During the day when I get to see her sweet face and play with her, she brings me at ease. However, it is the night time when I get emotional about her. The thing is my beautiful baby girl is starting to realize that some things are harder for her than others, such as walking long distances, climbing upstairs and going downstairs (needs assistance), and getting up from the floor seems to be something very challenging for her that use to not be so hard for her to do. It breaks my heart when she struggles to get up from sitting on the floor and she will look at me and say, "Mommy, it is just really hard." I don't want this blog post to be so depressing, so I am sorry it has started out that way. I guess this is just how I am feeling and posting about it really does help cope.
Abigail is meeting all of her other milestones perfectly. She is now three years old! I cannot believe that my baby girl is 3 already! She is completely potty trained and continues to work on dressing herself. It takes her longer than other kiddos but she is able to do it. :-) Her vocabularly is absolutely amazing and she is the most social little girl I have ever known. When we go grocery shopping or anywhere out in public Abigail always has a huge smile and says hello to EVERYONE! She is the type of child who attracts even the grumpiest of people at the grocery store....she always makes them smile. Our little angel.
She loves her music class at Gymboree and clearly loves to sing...all of the time. She will sit in her car seat most days and just sing anything. :-)
She has moved up twice in her swim lesson classes. She was in the mommmy and me class, then moved to the Aquatots class and now she is in the Starfish class. This little girl is on the verge of swimming. We are so proud of her. The water is the best place for her. She is able to do things in the water that she cannot do on dry land such as getting up from sitting with ease, climbing up the steps in the pool, etc. Abigail can spend (and has spent) 5 hours in the pool without ever coming out, except to use the restroom. She is our little fish baby girl and we will definitely have to invest in putting in a pool one day. She is definitely deserving and worth it. :-)
She is able to actually draw stick figure people with every detail added to the faces, including earrings and rings on the little people's fingers. She is mastery how to manipulate scissors independently and just needs assistance to hold and thread the paper through the scissors as she cuts. She loves anything arts and crafts and always requests to engage in these activities. Her imagination is unbelievable. She loves to play house with her baby dolls. However, we believe that her all time favorite thing is to pretend to be "Doctor Abigail". We got her a doctor's kit (her check up bag) and she constantly using it appropriately to make sure mommy and daddy and all of her baby dolls are feeling well. One day I stubbed my toe on the couch or something and Abigail immediately said, "Oh no mommy! I need to go get my check up bag"....and she did! I was all better in no time with Doctor Abigail on the case. :-)
Abigail is so excited to start back at school this fall, although mommy is going to miss her terrible while at work. She loves being with her friends so I am excited for her. While she goes to school we will still continue gymboree and swimming. I feel like I have just been rambling on but I wanted to give an update since I have not been very good about posting. I need to check back in soon so that I don't just go on and on and on.
Abigail is meeting all of her other milestones perfectly. She is now three years old! I cannot believe that my baby girl is 3 already! She is completely potty trained and continues to work on dressing herself. It takes her longer than other kiddos but she is able to do it. :-) Her vocabularly is absolutely amazing and she is the most social little girl I have ever known. When we go grocery shopping or anywhere out in public Abigail always has a huge smile and says hello to EVERYONE! She is the type of child who attracts even the grumpiest of people at the grocery store....she always makes them smile. Our little angel.
She loves her music class at Gymboree and clearly loves to sing...all of the time. She will sit in her car seat most days and just sing anything. :-)
She has moved up twice in her swim lesson classes. She was in the mommmy and me class, then moved to the Aquatots class and now she is in the Starfish class. This little girl is on the verge of swimming. We are so proud of her. The water is the best place for her. She is able to do things in the water that she cannot do on dry land such as getting up from sitting with ease, climbing up the steps in the pool, etc. Abigail can spend (and has spent) 5 hours in the pool without ever coming out, except to use the restroom. She is our little fish baby girl and we will definitely have to invest in putting in a pool one day. She is definitely deserving and worth it. :-)
She is able to actually draw stick figure people with every detail added to the faces, including earrings and rings on the little people's fingers. She is mastery how to manipulate scissors independently and just needs assistance to hold and thread the paper through the scissors as she cuts. She loves anything arts and crafts and always requests to engage in these activities. Her imagination is unbelievable. She loves to play house with her baby dolls. However, we believe that her all time favorite thing is to pretend to be "Doctor Abigail". We got her a doctor's kit (her check up bag) and she constantly using it appropriately to make sure mommy and daddy and all of her baby dolls are feeling well. One day I stubbed my toe on the couch or something and Abigail immediately said, "Oh no mommy! I need to go get my check up bag"....and she did! I was all better in no time with Doctor Abigail on the case. :-)
Abigail is so excited to start back at school this fall, although mommy is going to miss her terrible while at work. She loves being with her friends so I am excited for her. While she goes to school we will still continue gymboree and swimming. I feel like I have just been rambling on but I wanted to give an update since I have not been very good about posting. I need to check back in soon so that I don't just go on and on and on.
Thursday, May 17, 2012
Stationery card
Turning Three Girl Birthday Invitation
Cards for all occasions: Valentine's Day, Easter & Mother's Day.
View the entire collection of cards.
Saturday, April 28, 2012
The Diagnosis
So here we are, months and months since our last post. Being busy in our household is an understatement, but I should start by explaining what we have done since our last post. September 2011 was the last time I posted....a long time ago, I know. Abigail underwent another surgical procedure; however, this time it was a diagnostic procedure of a muscle biopsy. A small segment of her quadriceps muscle in her left leg was taken, which now leaves a nasty little scar that is attempting to heal. The results came back stating that there was a "markedly reduced expression of the protein, collagen VI". This meant that the next step must be a DNA test. We finally received the diagnosis on December 30, 2011 that our baby girl did in fact have Bethlem Myopathy, a form of congenital muscular dystrophy.
Here are few facts about Bethlem Myopathy:
Information taken from the Genetics Home Reference website: (http://ghr.nlm.nih.gov/condition/bethlem-myopathy)
Bethlem Myopathy is a rare disorder with only 100 families worldwide known to have it; however, I am sure the number is higher than that. Bethlem myopathy is a condition that mainly affects skeletal muscles, which are the muscles used for movement. People with this condition experience progressive muscle weakness and develop joint stiffness (contractures) in their fingers, wrists, elbows, and ankles that can restrict movement. Approximately two-thirds of people with Bethlem myopathy over age 50 will need to use a walker or wheelchair. Bethlem myopathy is estimated to occur in 1 in 200,000 individuals.
Mutations in the COL6A1, COL6A2, and COL6A3 genes cause Bethlem myopathy. These genes each provide instructions for making one component of a protein called type VI collagen. This protein plays an important role in muscle, particularly skeletal muscle.
Type VI collagen makes up part of the extracellular matrix that surrounds muscle cells. The extracellular matrix is an intricate lattice that forms in the space between cells and provides structural support. The extracellular matrix that surrounds muscle cells is necessary for muscle cell stability and growth.
Mutations in the type VI collagen genes that cause Bethlem myopathy result in the formation of abnormal type VI collagen or reduce the amount of type VI collagen that is produced. A decrease in normal type VI collagen disrupts the extracellular matrix surrounding muscle cells, leading to progressive muscle weakness and the other signs and symptoms of Bethlem myopathy.
Abigail's mutation occurs on the COL6A1 gene.
At least 18 mutations in the COL6A1 gene have been found to cause Bethlem myopathy. These mutations result in the production of an abnormal α1(VI) chain. If this abnormal chain is incorporated into type VI collagen, the resulting collagen molecule will not function normally. If the abnormal chain is not incorporated into type VI collagen, but is instead broken down soon after it is made, then not enough α1(VI) chain is available for the formation of type VI collagen. The loss of this chain leads to decreased amounts of this type of collagen.
The most common COL6A1 gene mutation, which is written as IVS14+1G>A, leads to the production of an α1(VI) chain that is missing several protein building blocks (amino acids). The altered chain cannot bind with the other α(VI) chains to form type VI collagen.
In people with Bethlem myopathy, some normal type VI collagen is produced, but not enough to form a strong extracellular matrix. A shortage (deficiency) of normal type VI collagen disrupts the extracellular matrix surrounding muscle cells, leading to muscle weakness and the other signs and symptoms of Bethlem myopathy. Basically, when you and I are producing 100% of the needed Collagen VI in our bodies, Abigail is producing maybe 70% of the needed Collagen VI and this will always be the case as she grows. The percentage will not decrease as she grows, but her body will grow making it harding for her muscles. Mutations in the COL6A1 gene are responsible for most cases of Bethlem myopathy.
______________________________________________________________________
We have had to let the diagnosis soak it for some time now. We have been to a Geneticist who explained everything very clearly for us. We have learned that Abigail's mutation most likely began with her, meaning she did not inherit the disease from either Clayton or I. The doctor explained that prior to conception, the sperm and egg basically undergo multiple scans to ensure that the strongest and healthiest DNA are present and the body checks for mutations. If any mutations are found then basically the egg or sperm are discarded. In Abigail's case, the best way he can explain why she has the disorder and we don't is that during conception their was a sudden change/mutation in either the egg or sperm leading to the mutation in the gene COL6A1.
After several upon several hours of crying and praying, we have come to a realization that our precious baby girl is still the same beautiful, sweet, inspiring Gift from God and we will not waste anymore of our time spent crying or blaming ourselves. God does not make mistakes and we feel so incredibly Blessed that He chose us to be her parents. Our daughter is the most inspiring person we know. She works so hard to overcome obstacles that may seem easy to you or me. She is so proud of herself when she does overcome these obstacles and knows that it is not easy for her. Her personality and her drive is truly inspiring to those who know and love her.
Abigail is currently participating in a research study with the University of Utah. The research study is best described as a case study to see how each type of mutation effects mobility and performance. We hope that by having Abigail involved in this type of study it will help open the doors for new research to finding an effective treatment or hopefully a cure one day.
If you would like to help make a difference, increase awareness, and possibly help researchers find a treatment or cure for Congenital Muscular Dystrophy, please donate to Cure CMD and specify "Collagen VI Research Fund". We greatly appreciate your help even if it is to educate others.
To Dontate to Cure CMD
Thank you and God Bless You!
-The Wisian Family
Here are few facts about Bethlem Myopathy:
Information taken from the Genetics Home Reference website: (http://ghr.nlm.nih.gov/condition/bethlem-myopathy)
Bethlem Myopathy is a rare disorder with only 100 families worldwide known to have it; however, I am sure the number is higher than that. Bethlem myopathy is a condition that mainly affects skeletal muscles, which are the muscles used for movement. People with this condition experience progressive muscle weakness and develop joint stiffness (contractures) in their fingers, wrists, elbows, and ankles that can restrict movement. Approximately two-thirds of people with Bethlem myopathy over age 50 will need to use a walker or wheelchair. Bethlem myopathy is estimated to occur in 1 in 200,000 individuals.
Mutations in the COL6A1, COL6A2, and COL6A3 genes cause Bethlem myopathy. These genes each provide instructions for making one component of a protein called type VI collagen. This protein plays an important role in muscle, particularly skeletal muscle.
Type VI collagen makes up part of the extracellular matrix that surrounds muscle cells. The extracellular matrix is an intricate lattice that forms in the space between cells and provides structural support. The extracellular matrix that surrounds muscle cells is necessary for muscle cell stability and growth.
Mutations in the type VI collagen genes that cause Bethlem myopathy result in the formation of abnormal type VI collagen or reduce the amount of type VI collagen that is produced. A decrease in normal type VI collagen disrupts the extracellular matrix surrounding muscle cells, leading to progressive muscle weakness and the other signs and symptoms of Bethlem myopathy.
Abigail's mutation occurs on the COL6A1 gene.
At least 18 mutations in the COL6A1 gene have been found to cause Bethlem myopathy. These mutations result in the production of an abnormal α1(VI) chain. If this abnormal chain is incorporated into type VI collagen, the resulting collagen molecule will not function normally. If the abnormal chain is not incorporated into type VI collagen, but is instead broken down soon after it is made, then not enough α1(VI) chain is available for the formation of type VI collagen. The loss of this chain leads to decreased amounts of this type of collagen.
The most common COL6A1 gene mutation, which is written as IVS14+1G>A, leads to the production of an α1(VI) chain that is missing several protein building blocks (amino acids). The altered chain cannot bind with the other α(VI) chains to form type VI collagen.
In people with Bethlem myopathy, some normal type VI collagen is produced, but not enough to form a strong extracellular matrix. A shortage (deficiency) of normal type VI collagen disrupts the extracellular matrix surrounding muscle cells, leading to muscle weakness and the other signs and symptoms of Bethlem myopathy. Basically, when you and I are producing 100% of the needed Collagen VI in our bodies, Abigail is producing maybe 70% of the needed Collagen VI and this will always be the case as she grows. The percentage will not decrease as she grows, but her body will grow making it harding for her muscles. Mutations in the COL6A1 gene are responsible for most cases of Bethlem myopathy.
______________________________________________________________________
We have had to let the diagnosis soak it for some time now. We have been to a Geneticist who explained everything very clearly for us. We have learned that Abigail's mutation most likely began with her, meaning she did not inherit the disease from either Clayton or I. The doctor explained that prior to conception, the sperm and egg basically undergo multiple scans to ensure that the strongest and healthiest DNA are present and the body checks for mutations. If any mutations are found then basically the egg or sperm are discarded. In Abigail's case, the best way he can explain why she has the disorder and we don't is that during conception their was a sudden change/mutation in either the egg or sperm leading to the mutation in the gene COL6A1.
After several upon several hours of crying and praying, we have come to a realization that our precious baby girl is still the same beautiful, sweet, inspiring Gift from God and we will not waste anymore of our time spent crying or blaming ourselves. God does not make mistakes and we feel so incredibly Blessed that He chose us to be her parents. Our daughter is the most inspiring person we know. She works so hard to overcome obstacles that may seem easy to you or me. She is so proud of herself when she does overcome these obstacles and knows that it is not easy for her. Her personality and her drive is truly inspiring to those who know and love her.
Abigail is currently participating in a research study with the University of Utah. The research study is best described as a case study to see how each type of mutation effects mobility and performance. We hope that by having Abigail involved in this type of study it will help open the doors for new research to finding an effective treatment or hopefully a cure one day.
If you would like to help make a difference, increase awareness, and possibly help researchers find a treatment or cure for Congenital Muscular Dystrophy, please donate to Cure CMD and specify "Collagen VI Research Fund". We greatly appreciate your help even if it is to educate others.
To Dontate to Cure CMD
Thank you and God Bless You!
-The Wisian Family
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