I’ve been holding something close. Partly because with everything we’ve been through I’ve not been able to fully process that there could be “more” coming our way. Partly because I’ve been so open in the past that I’ve also put YOU through a lot, and given how uncertain things are right now, the last thing I want to do is cause undue panic, spread something false, or cry wolf. So I’ve waited.
And I’ve prayed.
And I’ve researched.
I’ve sneakily polled friends and family.
I talked to pediatricians.
I more bluntly asked friends and family as concerns grew.
I prayed a lot more.
Then we started early intervention therapy.
I requested appointments with specialists.
We started test after test after test.
And while we’re not certain what IS happening, it’s become clear I’m not crying wolf. And I’m ready to tell you about it, because we can use the prayer warriors, and quite frankly I need a broader audience brainstorming.
Isabella is experiencing some developmental delays.
Our earliest signs were a resistance to weight bearing, and a lack of interest in mobility. That said, she crawled on time, then scooted really well. She was even really really close to walking! She could cruise across the living room pushing a toy on her own, and walk down a long hallway hanging on to just a couple of fingers.
Then she did those things less. Then she cried when we even attempted them. Then she couldn’t anymore. And now the fact she ever did them seems like such a distant memory I question it at times.
I’ve lived in a world where two sweet boys were never able to do many things. It’s sad of course, but we’ve learned to celebrate even so, and we love Landon (and Nolan ❤ ) for who they are.
But Isabella – our sweet baby girl – had felt like a healing gift to my heart. Her birth in 2017 was a bright light as we endured the loss of Nolan. Her presence has literally been transformative for me. And all along, not only due to genetic testing of Justin and I ahead of time, a thoughtful prayerful heart ahead of time, and what appeared to be a sweet little healthy girl from day 1, I’ve seen her as nothing less than perfectly healthy. So when things started to change. When her skills started to slip. When one thing after another came up unexplaned, it felt like a cruel trick.
My request is prayer. Prayer for healing above all else. But also clarity and answers and a plan. I’ll outlay all of the medical “stuff” below, and for those interested, keep reading. I’m not asking you to google things and send them to me. Trust me, if there were an internet doctorate earned by web time, I’d have one. I am interested in anyone who had experience with a similar story, maybe yourself, a child, a neighbor, a friend. A doctor who has had a similar case come through. What tests were helpful? What results were your best clues? What helped you arrive at an answer? Am I talking to the right people and asking the right questions?
I’m also praying for strength. I can handle a lot. I can keep up with the medical jargon, order medical supplies, advocate for good care, and love someone with special needs with my whole heart. I can thrive in the special needs community.
I know how to push two wheelchairs at once.
But I’m begging that Isabella’s future can be one of strength, ability, and success. That she can overcome this and have a great story to tell someday, while walking around confidently on her own two feet.
• I first mentioned resistance to weight bearing and lack of standing at 9 month and 12 month appointments. Hips were checked and seemed ok. Let’s revisit at 15 months. She’s developing fine otherwise and is within the acceptable range for gross motor.
• Somewhere in here Isabella stopped crawling and started scooting.
• We moved – talk to second pediatrician. She’s slowly regressing, but has also experienced a host of shocks. New home, away from me for a while, new day care etc. She’s developing fine otherwise. They were initially comfortable waiting until her 2 year appointment to revisit.
• Somewhere in here Isabella stopped scooting except for very short distances, and no longer wants to stand.
• Before the 18 month mark, the regression is now obvious. We’ve enrolled in early intervention, and requested an appointment with a specialist at Children’s hospital.
• Isabella is now having trouble with all mobility and her gross motor delays seem more wide spread. She sits well, but doesn’t like to reach high, hates weight bearing activity, and overall has pretty weak arms and legs. She can’t hold her head up while on her tummy any more. I’m fairly certain her posture is getting worse. Her fine motor skills are on track, her verbal skills are on track, and her language comprehension skills are amazing. But gross motor is officially way behind.
• December 2018 (20 months) we have her first specialist appointment. I went in with a list of auto immune illnesses in the family, suspecting something in the inflammatory family, possibly Ehlers Danlos Syndrome (EDS). If I’m reading her right, I swear it’s not just hard, it hurts. I think if we can just isolate what is causing the pain and fix that, maybe she’ll try again. Maybe with effort we can build strength again. Of course, I acknowledge we had to rule out Muscular Dystrophy (MD) because I can’t accept that as an option, and the PT had mentioned we should rule out Spinal Muscular Atrophy (SMA). But I entered hopeful of an explanation that didn’t break my heart.
• I left heart broken. Their first guess was Muscular Dystrophy. Her regression at this point when comparing current photos to those from months prior is now very obvious. Her arms and legs are very weak. (My takeaway here is if you ever see even mild regression of any kind, run, don’t walk, and yell until you have some testing performed. Specialists can take a while to get in to and you may lose valuable time!) Isabella left behind bloodwork for them to test for MD, as well as thyroid issues. They were to call me ASAP.
• I cried for a solid hour on the way home, then my phone rang. The team of doctors gathered in a room to call me and talk through results. It’s NOT MD. HALLELUJAH! It’s also not her thyroid. Shoot, that might have been easier to fix. It might be SMA. CRAP.
• Next steps were to test for SMA, because unfortunately that seems like the next likely diagnosis. Fortunately, they are on the forefront of diagnosis and treatment, and if we act fast, there are groundbreaking new treatments that are having an impact and improving the quality of life. Still heartbreaking that we were considering it, but somehow also hopeful that there might be an answer and that we were in the right hands. SMA is one of those you need to treat ASAP. A takeaway here is that if you can advocate for early screening in your state, you can change the life of impacted children and families. Early screening is crucial.
• Skip to the next appointment, only a few days later. We are now being handled by neuro muscular. They are fairly confident it is SMA, and they see SMA all the time, so it’s a well-informed confidence. We go ahead and perform the assessments required by insurance, so we can hit the ground running as soon as the test comes back positive. We discuss MRI and EMG being potentially helpful, but let’s not put her through that yet. Isabella left bloodwork for them to test for SMA. This could take a couple of weeks.
• A few tearful weeks later, we get a call. It’s not SMA. HALLELUJAH! There are still some very unlikely possibilities that make SMN1 sequencing worth pursuing, but incredibly unlikely. Next steps are a sedated MRI, a sedated EMG, and additional genetics.
ADDED She has an echo to prove she’s fit for anesthesia, the results aren’t mentioned so I’ve assumed they are normal.
• Isabella has a new symptom at this point – a persistent facial rash. It looks like a butterfly rash that is often seen with Lupus. She’s not regressing. If anything, we think she’s finally embracing some of the PT and exercises we’re doing, so she’s stable, maybe even seeing itty bitty improvements.
• A few weeks later, we’re back for the MRI and EMG. No doctor appointment at this time, just tests. I’ve mentioned the facial rash. Brain MRI is normal. The EMG shows chronic myopathic changes. I’ve requested an auto immune panel, but they firmly believe it is neuromuscular in nature. There are some “decent” options left. But also,some really bad ones. Some of the mitochondrial and metabolic life expectancies rob me of sleep.
• Next steps are additional genetic testing now that they have narrowed their focus. They order a saliva kit to be sent to the house. The bad news is Isabella doesn’t know how to spit. The good news is we still know how to laugh. After a long funny story, we eventually get this sample “extracted” and its results are still pending of as 3/1/19.
• In the meantime, the rash and my initial instinct are still lingering. Isabella also has a persistent rash on her knuckles. Her hand joints seem a little inflamed according to Landon’s nurse. Combine the facial rash, hand rash, inflammation, and perceived pain in her knees and hips and I can’t shake that maybe there’s still a chance it’s inflammatory/auto immune. What about Dermatomyositis? Can a one year old get Lupus? Is that even heard of? Does “likelihood” even mean anything to me anymore? Nope. Let’s pursue.
• I call the pediatrician and get a same day appointment with Nana along to help. I explain why I’m quite frankly hopeful it is auto immune so that it’s NOT some of the other awful things. We agree there’s a long list of reasons that auto immune could fit. They order Lupus, Lyme, urinalysis, and an auto immune panel. It’s not Lupus. It’s not Lyme. Her urinalysis was normal. But she has elevated ANA. We’re not sure what to do with that information, but it was enough that the Dr could refer us to rheumatology. We see rheumatology on March 13th.
ADDED: For a routine annual cardiology appointment (checking on a mild potential murmur) her EKG looks good. When I get to talk to the doctor and explain her growing story and the echo I heard nothing about, he takes a look at her results. He sees a very slight dilation in her aorta. He can’t diagnose but agrees this could happen with connective tissue disorders and likes rheumatology as a next step.
It’s NOT MD
It’s not her thyroid
It’s not SMA
Brain MRI is normal
EMG shows chronic myopathic changes
She has elevated ANA
Additional genetics are pending through Neuro Muscular office
Rheumatology appointment is scheduled.
Therapy efforts continue.
Gross motor delays and weakness, especially in arms and legs
Perceived pain in her joints
Persistent facial rash, as well as on her hands
Some signs of inflammation
If you made it to the end, let me know because you deserve a shout out!
Thank you for reading. Thank you for praying. Thank you for caring. Wouldn’t it be great if after all of this, she keeps working and climbing her way back and regaining skills? And we don’t get awful news? And the only explanation left is God’s healing power? I would tell that story loudly and often.
God, please let this be a story of hope and healing.
Joanne Fuller said:
I have been following you since you were pregnant with the boys. I was in the ladies bible study at Gateway then and have continued prayers. I have no words of advice, but I am prayng for you, your family and Isabella.
Megan Anderson said:
I am so sorry Melody.
Dave is always researching different things with his non responsive if anything sounds like it might help, we’ll let you know. Until then, you are in our prayers.
Donna Costan said:
I literaly don’t know what to say. My heart breaks for you and your family, but I CAN PRAY for sweet Isabella. My prayer is that the doctors find out what it is very soon and that the regression ceases and progression begins again. Please keep me posted on how she does.
Amy Massie said:
Poor Isabella, I will to pray for strength and answers! As someone with an autoimmune disease I understand how much it can effect so many parts of your body. Hopefully she is healed quickly either by the grace of God or the doctors figure out what’s going on and she gets the right treatment.
Praying for you and your family.
Patty kuykendall said:
Prayers for you and all the family
Kathy Davis said:
I am so sorry this is happening. I will put Isabella on my church’s prayer list & pray for her, you, & the rest of your family. Hang in there.
Jan Hunn said:
Sending love and storming heaven with healing prayers for Isabella and each one of you. ❤️
Betty cooke said:
We are pleading( that’s beyond praying) with our loving God that HE would reveal thru the tests and doctors what is going on with precious Isabella…..pleading for peace and comfort and answers and healing whatever it is HE can heal and we ask Him to do that ( adding soon and very soon) because He loves it when we know His power and depend on Him. 💜❤️💙💚❤️💜💙💚❤️💜💙💚🙏🏻🙏🏻🙏🏻🙏🏻🙏🏻🙏🏻🙏🏻🙏🏻
I believe it’s time for hope and healing and I believe He will deliver. We love you so much and we are praying. And we are always here when you need a shoulder to lean on. Love you.
Did the onset of symptoms coincide with any of her vaccinations?
Mama Laughs said:
Technically yes, because that early development window is when some happen. What are you thinking and how tight of a window are you looking for? (Same day, same week, etc.)
Oh, Melody… my heart aches for you and your family with this news. That being said, you more than most, know that miracles are real and that is my prayer.. I pray that you get a diagnosis very soon and that she begins to make big progress! I know from my own experience that inflammatory problems cause great pain… more than people would ever believe. I’m praying that the rheumatologist finds the key! With my entire heart, I pray for this for Isabella and your whole family! We love you, Jo and Wes
Terra Childers said:
Breaks my heart for you. We will continue to pray for all of you, and now especially for complete healing of little Isabella.
Casey Gochenour said:
Good morning, this hits so close to home for me. After many of the same text you have endured my daughter was diagnosed ( after doing a full genetic pannel)with a very rare genetic disease called UBTF. She is one of 12 in the world that we are aware of. I’m not sure if they have research this disease, but Harper seem like a typical child up until about 12 to 18 months she had all of her normal milestones. She was able to walk and did speak some prior to 18 months. A friend reached out to me that had heard your story.I will be praying for you and your family. If you have any questions for me or you are welcome to look me up on Facebook.
I hate this for you. Have they thought of Rhett’s Syndrome?
Mama Laughs said:
Good question. It’s on my list. I have a question out to see if that first microarray ruled it out, if it’s part of the pending saliva test, or if we need a separate one.
Lisa Collins said:
Praying for you all and that sweet girl❤
Prayers for your sweet family 😊
Sheila Blevins said:
I’m so sorry that Isabella is experiencing pain and the regression. I will pray for you all that God will take this from her. Love and prayers for Isabella and the Rinkers.
I was talking to a coworker in the hall in the fall and he was describing his middle daughter and how she started digressing in her skills. She has Rett syndrome. You can probably read up on it and rule it out, but I just wanted to throw it out as something to read on. The symptoms don’t seem to match, but the digression in motor skills just caught my attention.
Mama Laughs said:
It’s on my list! I agree, some things match but several do not. Hoping pending genetics can rule that out.
I hope you find answers soon and I hope those answers lead to some easy treatment options. With the inflammation and pain you may want to see if they are ruling out juvenile rheumatoid arthritis. It looks like Rhett’s is already on your mind but presentation doesn’t fully match up.
Sending lots of good thoughts, light, and energy to you and your family during this process.
Nancy Arnold said:
Melody, and Justin…..my heart goes out to you ALL….what more is there to say…you will be in my prayers as The Strawn Family already is…..I was so happy to see you, Melody, and the kids at Thanksgiving at Kaye and Gary’s……much love and Prayers coming your way ♥♥♥♥♥ Nancy
Greg, Tina, Mikaela and Megan said:
We love you all. Praying for the right doctors, tests and diagnosis. Praying for strength and peace of mind for you and Justin💜
I have no medical advice but i do believe in God’s healing & the power of prayer. I’m praying with my whole heart for Isabella
Aunt Devon said:
I pray that the drs find the answer soon!! Sweet baby Isabella is a precious little girl with a bright future with her family!!!
Mary F Burkett said:
Prayers. I am sharing this my daughter in the OT field to see if she or any of her colleagues can help.
Madonna Ormsby said:
Praying for you. I have no idea how you are making it through the days. I pray for healing for Isabella. Emotional healing for you. Continuing strength for you. You are an amazing mother. My heart goes out to your husband. Praying for all of you.
Sending prayers. what kind of MRI did they do? were they looking for lesions or tumors? I know brain tumors can be missed and cause some crazy seemingly unrelated symptoms. are they treating her with any medications yet? are you sure medications aren’t causing any of her symptoms?
I’d push for an earlier apt, and maybe even schedule to see a new Neuro doc, while you wait for the next specialist apt. Those apts can take a while to get. Sometimes specialists are too specialized and the big picture is missed.
As difficult as this is, you know why God sent you Isabella, He knew you could handle whatever medical issues that precious child has. Praying for a diagnosis, a good prognosis and simple treatment.
Sherri lear said:
Oh my. Continued prayers for answers. This made me cry. Keep fighting the fight. God has it.
Just a thought but have they looked into juvenile arthritis? That was my first instinct while reading her symptoms. Praying you get some answers soon! Not knowing is the worst part of a child with an illness, I know from experience!
Mama Laughs said:
Rheumatology should help with this in two weeks. Your aren’t the first today whose gut said JRA! Really looking forward to the rheumatology appointment and tests.
Praying for complete healing!
I’m so sorry you are going through something so ough again! I pray the Lord will grant wisdom to you and the doctors so that you can quickly get on the right path. My mom gut tells me that if your mom gut is telling you something you should heed it! My husband and I each have an autoimmune disorder. We’ve experienced a lot of help from changing our diet. If I were you I would look into and implement a AIP diet (autoimmune protocol) while you wait for specific results. The list seems overwhelmingly long of things to omit, but I’ll tell you, once you get started it really does become routine and much easier! (I can’t remember her name, but she wrote Against all Grain, because she found that changed her life dramatically with her autoimmune! )
Kimberely Faw said:
May God give you the strength and peace you need. Praying for you and your family.
Denise Mattson said:
Hi Melody, Remember me? Denise Mattson (now McNaughton) from Marathon. I follow your posts and I am praying for you and Isabella! I read the post entirely 🙂 I hope this is something that can be cured or managed for her. You know the saying “God only gives us what we can handle?” My word does he have faith in you!!
Prayers for you and your family. I’m just a random person from Robinson. I have children and thought if I can read your blog/Facebook, I could be a proactive parent. You’re an awesome adovate for your children! You’re very strong and I admire that ability.
Judith Cox said:
Continued prayers for the Rinker family. I have followed your posts since Landon and Nolan were born, rejoicing with milestones and crying with setbacks. May our magnificent Lord touch Isabella as only he can and bring strength to your family.
Patti Walker said:
My heart and prayers go out to you and your family! If anyone can get to the bottom of the issue it is you. My heart breaks to hear the new journey your family is on💔. In reading your blog it sounds like you have tapped into a path to find answers. I can’t really add any suggestions, but do want to let you know I recently read an article about a young lady that was finally diagnosed with Lyme disease after several negative tests. She suggested to demand a more extensive test( I can’t remember what she called it) stating the basic test very often shows a false negative.
Mama Laughs said:
Ok, Lyme at high level was clear. I’ll look in to secondary flags.
Susan jaeger said:
Prayers for you all as this mystery unfolds.
Paul and Jeanne said:
Your whole family is in our thoughts and prayers! God is so good and answers prayers as you know. Continue to lean on him. Isabella is such a beautiful blessing. He has this. Sending much love.
Paul and Jeanne Clower
🙏🏼❤️🙏🏼 Praying for your story of healing ❣️
Gary Strawn said:
Our prayers continue each moment of the day to find Isabella’s need and take away the source and fill her with strength to overcome this problem with God’s help and the Doctor’s knowledge. Pop and I pray for strength for you and Justin to handle the needs for Isabella and Landon and to keep Karson strong to assist in making you smile for just a bit when all seems low. Wish we could take away all pain and sadness for you all but God has you in his arms and will continue walking beside you, so don’t hesitate to hold His hand and let Him lead the way.
We love you!! Pop and Nan
Cheryl and Donnie Ping said:
Continued hugs and prayers for Isabella and your whole a family!
Jerri Titsworth said:
Prayers for sweet Isabella, Mel. Our love goes out to you all-
I’ve been praying for your family for years and will continue to do so. We have gone through something similar with our youngest. We did a year and a half of testing to figure out what was wrong. Our answer finally came through a genetic test called Whole Exome Sequencing. If you haven’t had that done already, we were told it’s the most thorough, advanced genetic test available. I’ll pray you find an answer soon and that whatever the problem is can be easily addressed.
Joey Triggs said:
My heart breaks for you. You will all continue to be in my prayers as Landon (and Nolan) we’re from day one.
Kirsty Bell said:
This is so crappy. Thinking of you. While I was reading it did seem similar to a friend’s child – all as ‘normal’ and suddenly a host of varying symptoms, quite similar to those you describe about your little one … a mitochondrial Disease, one in particular that my friend’s son has .. Leigh’s Disease. I know the range of mitochondrial illnesses can vary so if it is this, I hope for your family that it is a milder case. Either way, another thing to ensure you’ve crossed off.
Much love and prayers,
Chris Byrne said:
Praying this is a simple fix, and your beautiful family can enjoy life to the fullest. 🙏🏻🙏🏻
What about Dermatomyositis? It’s rare but muscle weakness and facial rash are common. I hope it’s something that can be treated and she will be okay. Praying for you all.
Mama Laughs said:
On the list for sure! Thanks!
I’m praying for Isabella. God knows exactly what the issue is and I have faith he will heal her.
I am feeling your pain And also hope Please God help this little girl Bless her family
Sent from my iPad
Felicia Morgan said:
My heart literally aches for you and your family. I’m so sorry you’re going through all this, but what a great writer you are, and what a wonderful way to help others while figuring out your own path toward helping your beautiful child. God gave her the perfect mother, for sure. All the best in your continued endeavors. ..and big hugs from far away…
Definitely made it to the end of your story about Isabella. I will be praying for your family. You and Justin are very kind, GOOD people. Keep your chin up like I know you always do. You take the best care of your babies.
D & D Ball said:
Continued prayers for strength for Isabella, you and all of your family.
joyce mcdonald said:
My prayers are with you and family you are a strong lady and God will carry you through this
SHARON BRINKMAN SAVILLE said:
Hi Melody. Family friends of Kaye and Gary. I follow your family. Prayers for all and for strength and knowledge. I pray an answer is found soon so the healing can begin.
Jeff & Mitzi said:
Our prayers are continuing as is our love for all of you! God is faithful even when we don’t understand, even when good results are taking too long, even when we get angry and want to go outside and scream to the top of our lungs, even when……….God is faithful! Praying for the right doctors, the right tests and healing! Praying for strength, courage, and endurance for all of you!
Lane Cooke said:
Hi Melody, Betty sent me your post about your precious little girl. Our thoughts and prayers are with you and your family. You asked for ideas and I thought of PsA (psoriatic arthritis). It is usually diagnosed in patients over 30 and the rashes with it are not normally on the face,but it might be something to consider when talking with the rheumatologist. Dale and I hope an answer will come soon. Lane Cooke
roger cook said:
Damnit!!!! My emotion at this moment after reading your post is anger, at who, or what I don’t know, just anger the kind that makes you want to break the dishes!
Mama Laughs said:
We are doing ok! Seeking answers and knowing she’s a tough booger. I’m very hopeful.
Heart, achy joints and rash sound an awful lot like Ehlers Danlos with POTTS possibly. With Rhett’s you would be seeing communication, language and comprehension regression as well as self harming behaviors. Good luck! Will be praying. (From an EDS momma and former severe and profound special ed teacher)
Rebecca Davis said:
Rob, Erin, Wyatt, Brady and Jacob said:
Love and hope from Minnesota!
Royce and Sharon Saville said:
Dear Melody and family. We are followers of your family. We feel like family. Kaye worked with Royce and I for 20+ years and Kaye and Gary are our kids Godparents. So introductions over we have followed Nolan and Landon and your family through your wonderful writing style. I see a book in your future at a calm stage in your life.
Our heart fell when we read more problems. Please keep us all posted as you are able. Prayers, prayers and more prayers for you and yours. We know you can handle this, but WE PRAY for a break, WE pray symptoms resolve or manage to heal ON THEIR OWN, WE PRAY for you to draw in a deep cleansing breathe that does not catch in your throat. A breathe that fills your lungs and body and SOUL with RELIEF, PEACE AND KNOWLEDGE THAT EVERYONE AND EVERYTHING SHALL BE FINE. I BELIEVE IN MIRACLES AND YOU MELODY AND YOUR WONDERFUL FAMILY ARE LONG, LONG OVER DUE. Love to all Royce and Sharon Saville.