It’s hard to stand back and realize that God takes our prayers seriously, and that sometimes He will put us (or our loved ones) through some really really hard things. In the end He will be glorified and He will be praised for His faithfulness.
Here are the realities that I have had to cling during this raging storm in my life.
a-This has not caught God off guard. Abby was His daughter long before she was ours, and His plan for her life is perfect! Psalm 139 has come to mind so many times over the past 3 weeks! He formed her exactly as He wanted her to be.
b-Hebrews 12:1- is a verse I learned a long time ago that is applied to my life daily-if not hourly these days. “Faith is being sure of what we hope for, and certain of what we do not see...”. Faith is Abby’s middle name, and it’s a reminder to me that our lives are not predictable, they are not our own, and that every step we take is a step on this journey of faith. We may not be able to see what is directly in front of us, but we know that God has the most amazing and perfect plan for us, so we continue to press forward.
c-“There is no cure”- This is the doctors words, not necessarily God’s words. It is not over until God says so. Look at how far we have come with technology over the past 10 years? Science has come so far.....what’s to say that there won’t be a cure even in the next 5 years? Watch out, cause I may become one of those moms who jumps into with the med students and professionals to find a cure for my girl!
d-God doesn’t want us to look so far into the future that we miss out on today. The moments of today will never be had again, and I chose to cherish and savor each one. Abby is our gift, miracle and treasure. Someone once said “having a child is like watching your heart walk around the outside of your body”. That is how I feel about both of my children.
There is no easy way to write this, so please forgive me if this is too blunt, but there is no sugar coating this really hard truth and our new reality. This is a very difficult blog for me to write as my heart has been so sad and tormented over the past few weeks. I have had to process so much, but am finally able to put into words what is going on, and to share why this mommy’s heart is breaking into a million pieces.
5 words have been swirling around in my mind and heart over the past 3 weeks.
Medical- About a year ago, Abby’s pediatrician wanted to have a genetic test done on her. One that would hopefully give us insight into the “quirky” things she does, and why she functions the way she does. It would also give us insight into what what going on with her eyes, and her health as a whole. Our insurance denied the procedure and told us that it would be $7000 out of pocket to have it done. We (obviously) couldn’t afford that, so we let it rest. January of this year, we switched health insurance and they didn’t hesitate to cover it! So, it was as easy as a swab to Abby’s mouth and a trip to the post office to mail it off. The results came back, and we got the call that the doctor wanted to meet with us to discuss the results. “A missing chromosome”- 3 words a parent is devastated to hear. Our sweet girl has a missing chromosome. A chromosome that was necessary for certain developmental behaviors, milestones and even physical well being.
Diagnosis- Abby is a carrier for “Joubert Syndrome”, and the doctor believes (after more tests are done) that we will find out that she does in fact have the disease and is not just a carrier. This disease is found in 1 in 80,000 people. It’s not something many people have heard of, and frankly it is something I wish I had never heard of and something I wish did not exist. It can be passed on by one or both parents, or it can morph into being on it’s own. It’s not a disease that must be passed down through the parents, it can simply develop on it’s own. Right now we know for sure that she is a carrier, which means that she will still experience side effects, and life long results because of this disease, but they won’t be as severe as they could be. IF however, they find her to actually have the disease, her life will forever be changed, as will ours.
Life Changes- “There is no cure”. This is a disease that there is no cure for...YET. Until there is cure (should Abby in fact have the disease), her life will begin to greatly change starting now. As a result of this disease(again should she have it), her kidneys will begin to shut down. There is no time frame given as far as when that would start, but the symptoms from this horrible disease begin to show themselves at 3 years of age. Abby turned 3 this past October. The discussion has been that when her kidneys begin to shutdown, we will have her put on the kidney transplant list and pray for a match. The 2nd major effect on her life will be that anywhere from the age of 10 years old and on, she will begin to lose her eye sight, and will eventually go completely blind. This normally doesn’t happen until the teenage years, but still happens none the less. There is no cure. Nothing can be done to delay it, or stop it, and in the meantime, we have to deal with a very difficult and devastating reality. Even if she is only a carrier, she will still experiences devastating changes in her life which could include lack of vision in her eyes if not complete blindness. She will continue to have a lack of control when it comes to muscular reactions in situations. This explains to us why she will randomly hit someone in close proximity (including us, baby David, strangers in the store, kids in Sunday school or preschool) to her. She is trying to communicate “hello” or something else but her body can’t cooperate the way ours does. When she realizes she has hurt someone due to this lack of muscular control, you can see how devastated and sorry she is for her actions. It breaks my heart as a mommy to watch her as she looks to me for reassurance when she realizes that she either just hurt someone or someone has scolded her for doing something she has no control over. It is a daily battle for her to control her physical exertions, and her daily mantra to herself is “no hit _______”.
Uncertainty- So, here we are, uncertain of what lies ahead in the life of our daughter who sleeps soundly in her bed, and has no idea of what is coming for her both this week and in the years to come. We won’t know anything more until they run a couple more tests. Praise the Lord they are happening this week.
Here is what has happened and what is going to happen:
*3 weeks ago we met with the doctor to discuss the results of her genetic testing.
*2 weeks ago we took Abby in to Stanford to have her eyes checked, and so far they are looking good. They said that the back of her eyes are “glossy” and that is exactly how they need to be to be healthy! This is very good news! Her lazy eye has gotten worse without her glasses, but with her glasses her eyes stay completely straight (for the most part) and that is a very good thing! We will continue to go back for exams every 6 months to see if the Retinitis Pigmentosa has advanced at all and where we are on that part of this journey.
*2 weeks ago we also had an ultrasound done on her kidneys. There are no cysts as of yet (another Praise the Lord), but she does have some very small kidney stones. Still waiting for those to pass...poor thing. We will most likely go back at least once a year if not twice a year for the ultrasound on her kidneys to see if the Kidney’s have begun to deteriorate.
*This Monday- we meet with the genetics specialists at Stanford. They will do an evaluation of her that will last about 90 minutes. The way I understand what will happen, is that they will do some evaluations of her developmental skills (gross and fine motor skills, speech development, physical capabilities etc) and see where she is on the spectrum. Please pray that they get clear insight and answers to their questions. That they will see what they need to see and we will have clear direction from there of what we can be expecting from her.They may also do a genetic test on Clay and I to see if she possibly received this from one of us. It makes a difference in how they approach it, not to mention will give us insight into the possibility of baby David having it too.
*This Wednesday Abby will have an MRI done on her brain. It will let us know if there is a “molar tooth appearance” in the midbrain. This will give us a clear and definitive answer as to whether or not she is just a carrier or does in fact have the disease. She will be completely put under for this procedure. It will give us answers and help us be able to proceed with the next steps of life.
Heartbreak- How do you tell your child, who loves colors, “lift the flap” books, naming shapes, building blocks, throwing and catching the ball, pointing out the leaves on the ground, the clouds, stars and moon in the sky, that she will one day not be able to see those things any more???How do you help her communicate what she is seeing (or not seeing) when she is delayed in her speech development and can’t effectively communicate? How do you explain to strangers in the grocery that when she walks over and pushes their child that it’s not her being mean, but something that she doesn’t have control over, and that what appears to be violence is simply her way of saying “Hello”. How will I know when her eye sight begins to diminish? It will be a gradual thing that will start with her peripheral vision and slowly “close in” until she is completely blind. How do you keep your heart from hurting so much? Every time I look at my girl, or she looks at me and smiles, the hurt in my heart squeezes a bit more. How many times over the past 3 weeks since we received this news has my heart cried out to the Lord “ Take my eyes Lord!!!! Not hers!!! Let her see the sky, and the ladybugs! Let her see the flowers she loves to smell, and see (not just feel) the rain she loves on her face! Take my kidneys Lord, not hers! Let her thrive in life, not being held back by anything!!”? How many sleepless nights have occurred and how many minutes have passed where I have watched her sleep? How many times have I watched her enjoy life and felt my heart burst with the most amazing love for her? She is our miracle, prayed into this world by our family and friends. A miracle that was prayed over as she was growing in my tummy. The prayers for her have always been, “Lord, let her life reflect, honor and glorify you. May she be a testimony of your faithfulness”.
So...where do we go from here? WE PRAY!!
a- We pray and ask God for a miracle! We have seen him do things in the past, and we know He can do it now. We lost 3 babies before He gave us Abby, and now we have 2 little ones! God is so good! Pray that she is completely healed! If not completely healed, that she is just a carrier and not diagnosed with the disease. Pray as well that baby David doesn’t have it either.
b- Pray that God spares her eyes and allows her to keep her vision (even as a carrier) and that if new kidneys are needed that when the time comes we will find the perfect match.
c-Please pray that as we move, we find a place that is within our budget, but is still close to her doctors and our family as we need the support right now. In the silicon Valley it is hard to find anything reasonable. But, we need a place that has a lawn area around it as playing outdoors is crucial for her sensory processing issues, and an apartment would not fit into that category.
d- Pray that we can find a way to keep her in her current special needs preschool as a change right now in her school setting could be beyond difficult for her, but is looking like our only option as we will be moving out of the district. Nothing is available in Saratoga right now to rent :(
e-Pray that God would provide financially as our doctors bills are beginning to accumulate. As much as I want to be a stay at home mommy that may not be possible. We have great insurance but we all know we still have to pay something right ? :) Praise God for my piano students and for my Crazy wrap business which are going to help cover some of the bills. God is always faithful, all the time and has always provided, so we know beyond a shadow of a doubt that He has this covered :)
f- Pray that God gives Clay and I discernment as we make some very difficult decisions over the next few weeks and months. That we would both find rest as there are a million things happening in our lives and my brain never turns off.
We love and appreciate all of you so much and covet your prayers and your support during this time. This upcoming week is going to be crucial for us as we discover more about our girl and what exactly her diagnosis is. I know this has been a long blog but there is much to be shared, told and prayed for. Thank you for taking the time to read, pray, and praise with us. If you want to know more about Joubert Syndrome, please check out the links below. The information so so difficult to read without weeping, but again, we serve a very faithful and capable God!
Lots of love to each of you....Lotte