We have been a bit quiet this week, as we were handed some news that was a bit shocking. The kind that feels like a punch in the stomach and takes your breathe away. We both tend to be a little more private with certain things so I must say that this post will probably one of the most difficult ones I write. The emotions are still raw and I know time will be a band-aid to these, and in the future I am fully aware they may be ripped off through the years. On Wednesday, the preliminary results for the genetics test came in. It turns out Mackenna has Prader Willi Syndrome. Many people are not aware of this syndrome as it only affects about 1 in 15,000. We both personally never heard of it but when they mentioned the screening for PWS, I looked it up. Basically there are two stages to this disorder. It is also a spectrum disorder so there are varying degrees. The first is somewhat of a honeymoon stage. It begins with hypotonia and dysphagia which Mackenna exhibits. During this stage, many intervention services will be in place in order for Mackenna to gain weight, learn how to eat, and increase her strength. She will demonstrate some developmental delays, but to what extent we do not know. DAMN THEM UNKNOWNS!!! It is also during this time, some babies begin treatment with HGT. Watch out A-Rod! This is to help babies with PWS to increase their muscle mass and height. It also has been known to curb the start of the second stage. The second stage scares the shit out of me! It begins between the ages of 2-5. This is where kids with PWS demonstrate a beginning of a food obsession. There is a communication error in kids with PWS in the hypothalmus. The hypotalmus lets normal people know when they are full. Unfortunately, this does not occur with PWS. It is important to start early with a sensible low calorie diet and exercise routine. PWS kids do not need as many calories as others and it often takes them longer to burn calories due to their compromised metabolism. From the ages of around 8 and up is where it becomes increasingly difficult. This is the age where PWS rares its ugly head. Food seeking becomes a major problem. Many lock their cabinets and fridges to deter food sneaking. In the future, Mackenna most likely will not be able to live independently. Food will be her enemy for the rest of her life. Thats a little knowledge about the syndrome. How did we take it? Tears seemed to come as soon as I heard and while they have slowed, they havent ceased. I automatically reflected back to my pregnancy and how difficult it was. Then to her birth and the whole NICU experience and honestly I was overwhelmed. To say I just bucked up and took it in stride couldnt be farther from the truth. This was to say the least, a nail in the coffin of my positivity. It vanished, I thought about our family now and how much this will change it. What about Halloween, Thanksgiving, Christmas? Will we be able to go out to eat? How about Kellen and Brody? How will they adjust to not having access to food? Their food? Will we have to lock up our cabinets? Can we have parties at our house? We didnt ask for this, neither did Kellen and Brody! How much more unfair could it get? Will I be able to go back to work? Will Mackenna get the services she needs in school since this is so rare? The thoughts kept coming and honestly more than enough have been negative. I really struggled for a few days, it was painful for me to even go to the NICU, to see Mackenna. To even hold her felt a little foreign to me. All of the things I had hoped for her came crashing down around me and it was like I didnt know this little baby anymore. But slowly, my relationship with her is building on a different premise. She is here with us for a reason. She is our miracle. Even though I have not come to full terms with my grief, I do see positives. Mackenna is our miracle because: 1. She will teach us more about life than Brian and I would have learned if she was not here. 2. She will teach her brothers empathy, kindness, understanding and the importance of protecting your own more than any relationship they ever have. 3. She has brought so much support to our doorstep in many different forms and she isnt even home yet. 4. She has shown me how strong my husband is when I have needed him most. 5. She has taught me how important it will be to take time for myself to build up my strength during the most difficult times. 6. Brian and I will need more time together, alone, to handle the stress that will come with this disorder. 7. We will need to be more conscience of spending time with each child and not neglecting the normal experiences for Kellen and Brody. This will build a stronger relationship with each of our children. On Monday, we are hoping surgery is a go for the tube, so we can get her home. This way we can all get back to family and begin our life with Mackenna. Thank you to all of you who have read this. The more people that know about PWS, the better. We are going to have to take this one day at a time and celebrate the beautiful times because they will outweigh the bad ones.
Posted on: Sun, 27 Oct 2013 02:44:40 +0000
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