Our little lady
Jason's post on Facebook has prompted many of you to lovingly reach out to us. Thank you for that! Thank you! Thank you! Your kindness and care is felt and so appreciated!
I truly need to give a little history in order to explain the gravity that we feel when it comes to Lydia's vision (and Knox's for that matter). We've been sitting in a whole lot of mystery for a very long time with those two. It began with Lydia at the age of 15 months. She had nystagmus from birth that never resolved and seemed to worsen around that age. We visited our pediatrician, who referred us to Riley for an MRI to rule out a brain tumor. That was clean and we shortly followed up with our ophthalmologist. He was quickly puzzled by her anatomy and sent us to a world-renown retinal specialist in Michigan. She and Knox have both been through a significant amount of testing. Our Michigan specialist put them in a research study and intended to get genetic testing to give us some more information with the potential for a prognosis. Essentially, he said they have ocular albinism and retinal dystrophy, which he has never seen together before in his practice (He is at least in his 60's and brilliant!). His suspicion is that they have a genetic disease (double recessive) that has never been discovered. Unfortunately, they never sent our genetic testing so we haven't gotten any further in that direction. Since then, we moved to Fayetteville, NC and established care there with an ophthalmologist. In short, Lydia showed stable, low vision just as our other practitioners explained in Indy and Michigan. However, Knox had a significant change in his glasses script that greatly concerned me. His doctor explained that since he didn't have records from our previous providers, he couldn't make any determinations based on one exam. How about a hot cup of mystery! So, that brings me to the last week. Lydia broke her glasses and had to resort to her old pair. She told me yesterday that she isn't seeing well at all out of her right eye (this has always been her bad eye). I asked if it was a sudden change and she said yes. She described her vision as gray. In another setting she explained it by scribbling on a piece of paper with pen. Now, nystagmus is literally horizontal eye movement that distorts vision. I have read blog after blog from low vision people who attempt to describe their vision. Some of the things I have heard are alarming. If you imagine low vision is similar to night vision when in it is raining in a car and the lights distort your vision. I have also read that it is like smearing Vaseline on the front of your glasses and then trying to focus. Our doctor repeated that phrase today. So, when 6 year old Lydia describes that by scribbling on paper, I believe she is describing her nystagmus, her inability to focus and inability to see well at all from that eye. When Jason tested her color vision, he used objects instead of swatches of color. That complicates things for people with nystagmus. All that said, her visual acuity upon testing today was not in the least bit reassuring from her right eye. Her left eye with her glasses on was 20/50 at her last visit in NC. We simply could not get a reliable acuity today. With flashing lights in her eyes, her recovery time for that kind of thing does not lend itself to good acuity testing. That is tough. Now, there was definitely reassuring news with the pictures Dr. Jones took of her fundus (retina). Most of what she reported to me sounded much like what we have heard before. Her optic nerves are large (not good), she has macular scarring, a blond retina with very little pigment (ocular albinism). New things we heard today included corneal dystrophy, enlarged vessels in her eye. There was no blood or swelling, which gave us a sigh of relief for certain. You see, there is so much that we don't know but we do know that there are specific signs and symptoms which will narrow our list of diagnosis down to pretty rotten prognosis (most of them lead to blindness). We have no idea if our kids will one day be blind. We've been told that stable, low vision is pretty manageable with certain tools and modifications for school and life. However, retinal dystrophy can be degenerative. We don't know if this change means our kids have degenerative disease. We also aren't convinced our girl sees a whole lot at all out of her right eye. It was more than mildly humbling to watch her miss most of the pictures and letters posted on that wall. I wish I thought she were fibbing at this point. She just tries so hard to please every single one of us! She was legitimately a delightful, slightly shy little girl trying to please all of us. Her grin will make you want to move mountains just to see it again. She took on this little whirlwind with grace, bravery and cheer. I am relieved, even reassured that this trip told us that we are still sitting in a truckload of mystery and it didn't place us in a fiercely more concerning realm with tons of new questions. However, we are still stuck with the old ones, and I guess there are a few new ones too. Both of our kids have had a pretty big change in their scripts. That is certainly new. We also just don't know if she had a sudden vision loss or a gradual one, but Dr. Jones leans towards a gradual one. That is a tough history to pull together from a 6 year old. Dr. Jones verbalized today that she was concerned about that and the fact that Lydia's script change is very significant, just as we are. She also explained that she needs all of our medical records in order to come to any conclusions. That is consistent and understandable. It means to me that we ruled out some very bad things today. It also means we are still sitting in a truckload of mystery and still not convinced that Lydia sees much of anything out of her right eye. Dr. Jones is having Lydia come back to Riley in September to get acuity testing with hopes that she will have adjusted to her new glasses and be able to do acuity testing. Our best hope is that she simply needed a significant prescription change, which still altogether scares me a bit. Nonetheless, we are all grateful. The day is done. Christ is King. We are not alone!
Today. Shew! Today, I am thankful for a husband who brings me a sweater to hide my pitted out dress from sweating bullets for hours while we waited for answers. I am thankful that he isn't just present physically but that he is emotionally present. I am thankful that he bears this sorrow with me and that when we pray there is some fierce mystery in God's goodness during those tender moments. I am so thankful that he cries with me. My Jason makes hard things bearable and he is always good for an ornery moment, bad Dad joke, or a full belly laugh. Those little somethings break the tension and remind us that God is big and we are small. I am thankful for a brilliant little girl who we are training to rise up in suffering, to be compassionate and kind always, and to believe that her hardships are not punishment from God in the slightest. She killed it today. We teared up over and over for the gift that she is. Her joy just spills out. God certainly knew exactly what He was doing when He made her. Third, my co-workers and our dear Kate were so patient and generous to hold down the fort both at work and at home, respectively. Lastly, but most importantly, I am grateful that God is so big and so kind to give me Jesus. I am never alone. So many of our tribe reached out with His Word, with kind words, and with prayer. Thank you! His grace is evident in you! He has surely drawn us near in this!
Psalm 112:1-8
Blessed are those who fear the Lord,
who find great delight in his commands.
Their children will be mighty in the land;
the generation of the upright will be blessed.
Wealth and riches are in their houses,
and their righteousness endures forever.
Even in darkness light dawns for the upright,
for those who are gracious and compassionate and righteous.
Good will come to those who are generous and lend freely,
who conduct their affairs with justice.
Surely the righteous will never be shaken;
they will be remembered forever.
They will have no fear of bad news;
their hearts are steadfast, trusting in the Lord.
Their hearts are secure, they will have no fear;
in the end they will look in triumph on their foes.
I truly need to give a little history in order to explain the gravity that we feel when it comes to Lydia's vision (and Knox's for that matter). We've been sitting in a whole lot of mystery for a very long time with those two. It began with Lydia at the age of 15 months. She had nystagmus from birth that never resolved and seemed to worsen around that age. We visited our pediatrician, who referred us to Riley for an MRI to rule out a brain tumor. That was clean and we shortly followed up with our ophthalmologist. He was quickly puzzled by her anatomy and sent us to a world-renown retinal specialist in Michigan. She and Knox have both been through a significant amount of testing. Our Michigan specialist put them in a research study and intended to get genetic testing to give us some more information with the potential for a prognosis. Essentially, he said they have ocular albinism and retinal dystrophy, which he has never seen together before in his practice (He is at least in his 60's and brilliant!). His suspicion is that they have a genetic disease (double recessive) that has never been discovered. Unfortunately, they never sent our genetic testing so we haven't gotten any further in that direction. Since then, we moved to Fayetteville, NC and established care there with an ophthalmologist. In short, Lydia showed stable, low vision just as our other practitioners explained in Indy and Michigan. However, Knox had a significant change in his glasses script that greatly concerned me. His doctor explained that since he didn't have records from our previous providers, he couldn't make any determinations based on one exam. How about a hot cup of mystery! So, that brings me to the last week. Lydia broke her glasses and had to resort to her old pair. She told me yesterday that she isn't seeing well at all out of her right eye (this has always been her bad eye). I asked if it was a sudden change and she said yes. She described her vision as gray. In another setting she explained it by scribbling on a piece of paper with pen. Now, nystagmus is literally horizontal eye movement that distorts vision. I have read blog after blog from low vision people who attempt to describe their vision. Some of the things I have heard are alarming. If you imagine low vision is similar to night vision when in it is raining in a car and the lights distort your vision. I have also read that it is like smearing Vaseline on the front of your glasses and then trying to focus. Our doctor repeated that phrase today. So, when 6 year old Lydia describes that by scribbling on paper, I believe she is describing her nystagmus, her inability to focus and inability to see well at all from that eye. When Jason tested her color vision, he used objects instead of swatches of color. That complicates things for people with nystagmus. All that said, her visual acuity upon testing today was not in the least bit reassuring from her right eye. Her left eye with her glasses on was 20/50 at her last visit in NC. We simply could not get a reliable acuity today. With flashing lights in her eyes, her recovery time for that kind of thing does not lend itself to good acuity testing. That is tough. Now, there was definitely reassuring news with the pictures Dr. Jones took of her fundus (retina). Most of what she reported to me sounded much like what we have heard before. Her optic nerves are large (not good), she has macular scarring, a blond retina with very little pigment (ocular albinism). New things we heard today included corneal dystrophy, enlarged vessels in her eye. There was no blood or swelling, which gave us a sigh of relief for certain. You see, there is so much that we don't know but we do know that there are specific signs and symptoms which will narrow our list of diagnosis down to pretty rotten prognosis (most of them lead to blindness). We have no idea if our kids will one day be blind. We've been told that stable, low vision is pretty manageable with certain tools and modifications for school and life. However, retinal dystrophy can be degenerative. We don't know if this change means our kids have degenerative disease. We also aren't convinced our girl sees a whole lot at all out of her right eye. It was more than mildly humbling to watch her miss most of the pictures and letters posted on that wall. I wish I thought she were fibbing at this point. She just tries so hard to please every single one of us! She was legitimately a delightful, slightly shy little girl trying to please all of us. Her grin will make you want to move mountains just to see it again. She took on this little whirlwind with grace, bravery and cheer. I am relieved, even reassured that this trip told us that we are still sitting in a truckload of mystery and it didn't place us in a fiercely more concerning realm with tons of new questions. However, we are still stuck with the old ones, and I guess there are a few new ones too. Both of our kids have had a pretty big change in their scripts. That is certainly new. We also just don't know if she had a sudden vision loss or a gradual one, but Dr. Jones leans towards a gradual one. That is a tough history to pull together from a 6 year old. Dr. Jones verbalized today that she was concerned about that and the fact that Lydia's script change is very significant, just as we are. She also explained that she needs all of our medical records in order to come to any conclusions. That is consistent and understandable. It means to me that we ruled out some very bad things today. It also means we are still sitting in a truckload of mystery and still not convinced that Lydia sees much of anything out of her right eye. Dr. Jones is having Lydia come back to Riley in September to get acuity testing with hopes that she will have adjusted to her new glasses and be able to do acuity testing. Our best hope is that she simply needed a significant prescription change, which still altogether scares me a bit. Nonetheless, we are all grateful. The day is done. Christ is King. We are not alone!
Today. Shew! Today, I am thankful for a husband who brings me a sweater to hide my pitted out dress from sweating bullets for hours while we waited for answers. I am thankful that he isn't just present physically but that he is emotionally present. I am thankful that he bears this sorrow with me and that when we pray there is some fierce mystery in God's goodness during those tender moments. I am so thankful that he cries with me. My Jason makes hard things bearable and he is always good for an ornery moment, bad Dad joke, or a full belly laugh. Those little somethings break the tension and remind us that God is big and we are small. I am thankful for a brilliant little girl who we are training to rise up in suffering, to be compassionate and kind always, and to believe that her hardships are not punishment from God in the slightest. She killed it today. We teared up over and over for the gift that she is. Her joy just spills out. God certainly knew exactly what He was doing when He made her. Third, my co-workers and our dear Kate were so patient and generous to hold down the fort both at work and at home, respectively. Lastly, but most importantly, I am grateful that God is so big and so kind to give me Jesus. I am never alone. So many of our tribe reached out with His Word, with kind words, and with prayer. Thank you! His grace is evident in you! He has surely drawn us near in this!
Psalm 112:1-8
Blessed are those who fear the Lord,
who find great delight in his commands.
Their children will be mighty in the land;
the generation of the upright will be blessed.
Wealth and riches are in their houses,
and their righteousness endures forever.
Even in darkness light dawns for the upright,
for those who are gracious and compassionate and righteous.
Good will come to those who are generous and lend freely,
who conduct their affairs with justice.
Surely the righteous will never be shaken;
they will be remembered forever.
They will have no fear of bad news;
their hearts are steadfast, trusting in the Lord.
Their hearts are secure, they will have no fear;
in the end they will look in triumph on their foes.
Oh Marri, you two are the essence of God fearing, faithful, loving parents. Those of us who have not had to endure any such health trials with our kids should fall down & thank God for sparing us. I have no words of wisdom - you both have more of that in your pinkies than I have acquired in 6 decades. Just know that I love you all, pray for you & your precious babes daily, and know that God will be glorified through whatever transpires. Looking forward to giving you a great big hug soon. Love, Linda
ReplyDeleteThank you Linda! You are full of wisdom and God-fearing joy. You are an incredible blessing and I thank God for you and Tim! Jason and I feel rich to be in the same church again. Your encouragement has certainly lifted us up so many times!
ReplyDeleteHello Marri and Jason. I am Julie Kurrasch's zany mother and Gramma Flash Flash to my almost 9 yo granddaughter, Eleanor Dove. Occupational, I am a neuro-optometrist who specializes in functional visual care and rehabilitation. I am not familiar with Lydia and Knox's visual condition but am planning to research both of their tentative diagnoses. One of my "talents" is connecting people to resources. I have a number of non-conventional treatment modalities but I won't know which treatments might offer the children potential benefits to either stabilize their visual decline, stop the decline, or restore some of the lost sight. I also definitely do not want to risk exacerbating their rare visual anomalies. Therefore, once I have a better understanding of their condition, I plan to connect with several of my optometric and ophthalmogihical colleagues to explore what treatments might help! Please know that I don't believe in coincidences but see crosdibg of paths as God's way of connecting people with needs with another who may have a tool to fill those needs. Julie is hopeful her "good ol' mom" will know of something to help your beautiful little ones! I look forward to meeting you and your sweet family soon! I am currently in Seattle where zi have just established a clinic to address synchronizing more effectively the brain's vestibular, visual, and auditory channels. I will be back in Indianapolis July 17th to see patients in my office there. You can learn more about my practice and links to various treatment modalities at my website: www.eyes4wellness.com. Prayers also being lifted for miracles!
ReplyDeleteThank you Mary! I am certainly excited to hear about your practice and how it may help my kids! I have enjoyed conversation with Julie for years about your drive and zeal for life and for your work! I am in awe of it! Thanks so much for reaching out! We certainly look forward to following up with you!!!
DeleteMarri and Jason, I was reading this while with the family in Branson. the long trip back to Indiana gave me alot of time to think and pray for Lydia and your family. God has a plan for all things that we go through. This is not a glib statement, because I live it each and every day. I know your heart and how you serve God. Your service at VMCC with the homeless forever impacted our kids and ME to have a heart for those less fortunate and for God. I KNOW that he will bless your through this storm. I keep thinking of the Mercy Me song Even If... He is with you friends!
ReplyDeleteWill be standing in prayer with you guys! Love you! Sonya
ReplyDelete