Tuesday, March 18, 2014

Our Miracle boy

   This post is coming to you a little early but I'll just take my chances with the adoption police. LOL  First, I will update you on where the adoption is at.  It has been a long journey for us but we are so very close to the end of this process to start a new journey with our Little Angel.  The adoption should be finalized by the end of this month.  We are simply waiting for the Judge's signature and then he is formally our baby boy!!! So very exciting, yet, in the midst of this exciting time, there came some devastating news.  I' have decided not to wait for the finalization to inform our family and friends about our baby boy.  It's time to share with you all what we face now and in the future.  First of all, our Little Angel was born on May 21, 2012.  Praying the adoption date comes in March.  Our Little Angel came to us at 11 months old on April 19, 2013.  He wasn't a typical baby and suffered from some moderate medical concerns at the time.  When we brought him home; he could not walk, he could not hold his own bottle very well, he was just tolerating pureed baby foods, he could not sit up unassisted, and had no sounds or words, and breathed loudly. Birth to three put him at a 3 month level pretty much across the board.  He was with a loving foster home before coming to us but we just thought "the system" must have caused his delays.  We thought, "now that he is finally home, he will catch up."  We started therapy immediately.  By the end of May, he was sitting up and drinking from a sippy cup.  By July, he was crawling.  Then we hit a time of regression.  He kept loosing balance and sleeping a lot.  After many visits to the doctor and a specialist we all finally decided he was fine and it was ok to sleep 20 plus hours in a day. We continued with therapy.  In August, he learned how to wave. By September, he could no longer wave.  Yet, he started crawling better and better.  In october, we started outpatient speech therapy in hopes that we could learn how to communicate with him as he had no words yet.  After many visits with the therapist, we started seeing progress.  We have eye contact and he comes to us for comfort!!!! Yipee!! He knows I am his mommy and I'm soaking in all the snuggles.  Besides his developmental delays, our Little Angel suffers from Laryngomalacia (which is a congenital softening of the tissues of the larynx (voice box) above the vocal cords. This is the most common cause of noisy breathing in infancy. The laryngeal structure is malformed and floppy, causing the tissues to fall over the airway opening and partially block it.)  Chronic sinus infections, chronic constipation, shivers and blue spells, hypotonia, severe acid reflux (GERD), ataxia, and random/odd and maybe  involuntary movements of his limbs, and he falls often.  His general pediatrician was trying to figure out all his medical concerns with no avail. He seems to take 3 steps ahead then 2 steps back.  Yet, overall he continues to make progress.  We are very proud of our Little Angel.  In January he started standing/balancing for 5 seconds and today he no longer can do that.  We felt he was so close to standing, but not yet.  His medical concerns have become more and more in our face lately.  His breathing sounds horrible, his reflux is bad, he shivers for no reason, and turns blue on us.  His doctors were ready to find more answers.  In the course of this past year; we have added multiple doctors to his team, with the latest one being, genetics.  We all agreed it was time to do a genetics test to see if there is an answer in his core make-up, his DNA.  We started the process back in January, and finally received the diagnosis no one ever thought was even a possibility last thursday at noon.  It's never a good thing to get a phone call from a nurse asking if I have time to speak to the doctor! "Excuse me, you want me to speak to the doctor over the phone, right now?"  I had no idea what I was about to hear, would change our lives (or the perception of our lives) forever!  I was told he has MECP2 Duplication Syndrome.  Yes, take that in for a moment.  Yep.  Means nothing to you, right?  That was my first reaction as well.  I wrote it down and thought I'll look it up later, how bad could it be, right?  The doctor called me three times in a two hour period.  The last phone call, she was apologizing for telling me this over the phone. MECP2 has changed our lives but this diagnosis has not changed our Little Angel or how much we love him.  We love him to an even greater degree carrying this diagnosis.  Ok, are you ready for the description and prognosis for what my Little Angel has?

First, I will explain the chemistry/biology part of it.  MECP2 duplication syndrome is caused by a genetic change in which there is an extra copy of theMECP2 gene in each cell. This extra copy of the MECP2 gene is caused by a duplication of genetic material on the long (q) arm of the X chromosome. The size of the duplication varies from 100,000 to 900,000 DNA building blocks (base pairs), also written as 100 to 900 kilobases (kb). The MECP2 gene is always included in this duplication, and other genes may be involved, depending on the size of the duplicated segment. Extra copies of these other genes do not seem to affect the severity of the condition, because people with larger duplications have signs and symptoms that are similar to people with smaller duplications.
The MECP2 gene provides instructions for making a protein called MeCP2 that is critical for normal brain function. Researchers believe that this protein has several functions, including regulating other genes in the brain by switching them off when they are not needed. An extra copy of the MECP2 gene leads to the production of excess MeCP2 protein, which is unable to properly regulate the expression of other genes. The misregulation of gene expression in the brain results in abnormal nerve cell (neuronal) function. These neuronal abnormalities cause irregular brain activity, leading to the signs and symptoms of MECP2 duplication syndrome.  So what does this mean for our Little Angel. MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability (mental retardation). Most people with this condition also have weak muscle tone in infancy, feeding difficulties, poor or absent speech, seizures that may not improve with treatment, or muscle stiffness (spasticity). Individuals with MECP2 duplication syndrome have delayed development of motor skills such as sitting and walking. Some affected individuals experience the loss of previously acquired skills (developmental regression). Approximately one third of people with this condition cannot walk without assistance. Many individuals with MECP2 duplication syndrome have recurrent respiratory tract infections. These respiratory infections are a major cause of death in affected individuals.   His life expectancy is shortened drastically.  The doctor told us life expectancy is 25 years.  The saddest, most heart-wrenching part of his diagnosis isn't his life expectancy but rather the regression that will take place.  If he ever learns to walk, he will lose it.  Some children regress with eating and are put on feeding tubes, some need supplemental oxygen.  Others need full-time support and help as the years move on.  Life gets harder for these children as they get older as the seizures worsen (seizures that don't respond well to treatment) and the regression becomes greater.  
We are in utter shock.  Never did we expect such a diagnosis.  Never did I ever imagine having a child with such great special needs.  Never did I ever think this could happen to me, to us.  I'm devastated to think of the pain and suffering my Little Angel will face as he grows up.  Not to mention all the questions I have. How will he ever be able to understand the Gospel and choose Jesus. Is he different than us.  Is he perhaps an Angel sent here to do things for Christ that I can't comprehend.  We have been so blessed to have him in our home and call him our son.  He has touch our hearts and our world in a way that is indescribable.  In a "normal" life with "normal" children it is so easy to take the little things for granted and take control of my life.  With my Little Angel, I have to wholly lean on my Heavenly Father to make it through each and every day.  I can do nothing without Christ!  And we are certainly be carried by HIM through this time in our lives.  Please, as you think of our family, please pray for us and our Little Angel.  Please pray for funding and necessary equipment to properly care for him.  Please pray that we completely trust God with Him and our future with him.  Thank you for your prayers and support and may God bless you.  You have my permission to share my blog with others.  Prayer is greatly needed for us all. 

James 1:2-4 tells us, "Consider it pure joy my brothers, whenever you face trials of many kinds, because you know that the testing of your faith develops perseverance. Perseverance must finish its work so that you may be mature and complete, not lacking anything."

Another MECP2 Mom wrote this and it speaks loudly...

In Phillipians 4:4, we are told to "rejoice in the Lord always." I don't know about you, but rejoicing was not always at the forefront of my mind during these past years with Liam. A pastor friend was talking about this verse, and he said that it is helpful to remember that the word "rejoice" is made up of two parts: "re" and "joy." The "re" part of rejoice can remind us to return to the source of our joy. Is the source of our joy a perfect family of healthy and typical children? No. It is our perfect God and Lord . . . the sacrifice that Jesus made on the cross of Calvary for us . . . the hope of heaven someday. That is why we "Rejoice in the Lord always." We will always be disappointed when we seek joy from other places. Our joy comes from the Lord.
If we keep our focus on the cross, God will carry us . . . just as Peter was able to walk on the water when he kept his eyes on Jesus. If we focus on the difficulties, the unfairness of it all, the hardships, we will sink as Peter did. We pray today that God will fit each of us with lenses of faith that keep our eyes on Him and will carry us through the difficult days, months, and years ahead.
Maybe all the parents of "typical" kids don't get it. They get upset about going to the doc for checkups and shots. They don't know what it is like to watch their child be hooked to tubes and monitors galore. They are upset if their child is left out of games at recess. They don't know what it is like to have their child always be different, not fit in, stand out, and be stared at. GOD DOES. He gave his Son to die . . . as a criminal . . . beaten . . . hated . . . humiliated. What pain God the Father must have felt. And all for you, me, and our dear, dear children. Thanks be to Him.
Jesus’ great sacrifice on the cross has made us clean. All of the doubts that we have, the negative feelings, anger, or envy - these are gone. When God looks at us now, he sees the robe of righteousness that Jesus gave us. He sees not our weakness, but Jesus’ perfection. Again, thanks be to God! May we keep our focus on Him in the days ahead.

And lastly this song has helped me through...