Noelle's Story

 Introducing my sweet blessing, Miss Noelle Grace.

So I haven't shared Noelle's beginning with very many people but here goes. Within the first 24 hours of Noelle's life we heard these words from our pediatrician "she will just be different." Noelle was born with, what we are told is, bilateral thumb hypoplasia and bilateral radial deficiency. Basically her thumbs are missing some tendons, muscles or something isn't connected right which causes her to not be able to use or move her thumbs. Her wrists also bend in due to her radius bones being short. Her differences do appear to be minor compared to some I have seen but major in the eyes of a momma.  Noelle was also born with hip dysplasia. At her newborn screen the doctor found that her hips would click out of socket when rotated. So she wore the pavlik harness for 3 months 24/7 and then one more month when she was sleeping. X-rays showed that her hips have been corrected. Praise God!! She did kind of get a flat spot on the back of her head from how the harness restricted her from laying certain ways. At her 6 month checkup her pediatrician will either refer us for the helmet or hopefully see enough improvement that we don't need to. I used to cry about it all and was pretty devastated about her differences. I love my babies both the same but I do think about how and if she will be treated unkindly or unfairly by others because of these differences. I think about her missing out on certain things in life or things being more of a challenge.  People in this world are dumb and mean. For some reason even though we are all different there is a stereotype of what we should look and act like. Since then I have gained a community of friends, through a few support groups. This has been life changing and life saving!! I have met people who have taught me to embrace Noelle's differences and support for the future. We saw a hand specialist when she was only a few weeks old at Scottish Rite hospital and they requested we wait until she's closer to 12 months before we do any X-rays on her arms and hands. The doctors at Scottish Rite also requested that we get some tests done on Noelle to rule out any other diseases or issues that are common with these dysplasia's. 

These are the other problems associated with Noelle's issues:  

 

TAR - autosomal recessive condition with thrombocytopenia and absent radius. Different in that thumb is typically present.

Fanconi's anemia - autosomal recessive condition with aplastic anemia. Fanconi screen and chromosomal breakage test to screen

treatment is bone marrow transplant

Holt-Oram syndrome - autosomal dominant condition characterized by cardiac defects.

VACTERL Syndrome - vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects)  

We have had a heart echo (sonogram) and a few other tests on her heart. Praise God these tests were all "normal."  We also had to get a sonogram of her kidneys. Which showed that they were the right shape, size and location but there was fluid on one of them. We have to go back when she's 8 months old and get another sonogram. We have a test coming up at the end of October to see a geneticist and to have an extensive blood test. There is a rare blood disease associated with the dysplasia's called faniconi anemia. "Fanconi's anemia is a disease passed down through families (inherited) that mainly affects the bone marrow. It results in decreased production of all types of blood cells.

Persons with Fanconi's anemia are more likely to develop several types of blood disorders and cancers, including leukemia, myelodysplastic syndrome, and cancer of the head, neck, or urinary system."

The more I read the more my heart broke. I kept thinking...my baby! MY baby might have this?!! I literally cried for days and if I think to much about it I will cry more. I know kids get cancer and I have known a few and it is all just so heartbreaking. So my husband and I both agreed not to read anymore about this disease unless Noelle's test is positive. I hear the test results take about a month to get back. So I guess I will be full of hidden stress for the next few months. I am constantly praying for her, for this not to be her life and for calmness through this storm. I fail a lot and let my emotions overwhelm me. I find myself often screaming out, in my head, please God no.  I have prayed more since my sweetheart was born then ever before. I know I can handle anything life brings but I don't want to handle this. I don't want my baby to get bone marrow cancer. If she tests positive for the disease then we have to get my son tested. We may need to get him tested anyways. I'm not sure but it will definitely be something I ask the geneticist. One good thing has come from all the worry over this blood test...Noelle's physical differences seem so minuscule. "10 fingers really are overrated!!" As they say over at the luckyfinproject.org.

Noelle already has such a sweet happy disposition. She fills my heart with gladness. 

For now we wait, trust and pray.

Please be in prayer for my family during this challenging time. For healing and miracles. For peace that passes all understanding. For God size strength. For all the families out there who share in these struggles.

I have found that sewing is a good distraction from all of the scary stuff. 

UPDATE: We had Noelle's 6 month check today. She was 26 in long and weighed 16.5 lbs. The doctor felt that her head had rounded out enough that she does not need to wear the helmet. I'm having mixed emotions about it. Praise God that the doctor feels that way but honestly I thought her head should be a little rounder. However the doctor sees way more baby heads than I do and I trust her opinion. She also referred us to physical therapy for Noelle's thumbs, wrists and arms. Lord your mercies are new every morning! Thank you for round heads!

Today I am tired of diagnosis, syndromes, diseases and associations. Noelle had her second kidney ultrasound and she was diagnosed with UPJ obstruction :( Ureteropelvic junction (UPJ) obstruction is a blockage in the area that connects the renal pelvis (part of the kidney) to one of the tubes (ureters) that move urine to the bladder.

I'm heart broken and tears overwhelm me. Please God give me your strength and wisdom. 
 

Today we met the geneticist. She had a great disposition and was very informative. After some background questions the doctor spoke with us about each possible diagnoses. We were happy to hear that after the exam the doctor the said she didn't think Noelle's kidney issue was part of VACTERL. The doctor still wants Noelle to be screened for the other associations. So she recommended that we get a full body X-ray to check for any vertebral issues, a chromosome DEB assay for FA and a chromosome microarray (blood tests). So in the next couple of weeks we will be getting these things taken care of. I really felt like talking to a specialist put my mind at ease but I still feel like I'm living in limbo until we get the results back. The doctor said she has seen patients who just have longitudinal deficiency and no other diagnosis. That's what I'm praying for. 

 

I have been in a deep struggle with my emotions lately. Some days just consumed with depression and others pushing past it. I struggle between wallowing in this sadness of what ifs to hating myself for being so weak then back to begging God to help me get through this gracefully. I want to look back on this experience and say that I trusted God, I chose joy each day and I gave my babies and husband all of me even in this struggle. I want God to be glorified in how I handle this challenge. I want to win this race and finish well. I don't believe that all people are healed...to me that just seems unrealistic. I feel like God works miracles but he also allows us to go through challenges to build our character. Whatever this lot...it is well with my soul. Noelle is such a sweetheart. Full of smiles and tenderness. Thank you God for this gift.

I got Noelle's evaluation in the mail today from the geneticist. Of course I'm crying and my anxiety just went up my chest. Reading the word "normal" at least 20 times is a good feeling. Then reading all the different things the doctor was looking for that we didn't even know about gave me a kind of sinking feeling. Thank you Great Healer for my baby girl.

Noelle had her physical therapy evaluation and the lady said Noelle didn't need PT but referred us to OT. They couldn't do the OT evaluation without a referral from our doctor and we have to make another appointment. I just want to count up all the appointments we have taken her to this month and whine. The PT thought Noelle might need the helmet 😞 I'm just not ready for that. She also talked about wrist/hand slings or brace she might want Noelle to wear. Then she was telling us about some tight little skirt thing she might have to wear because her legs go apart a lot (because the hip harness forced them that way her first 4 months of life). The PT thought she might not be using the right muscles and might have trouble crawling because of her legs and because Noelle doesn't seem to like to put weight on her right hand/arm. 

 

I guess I got upset about it all and overwhelmed. The PT did say that Noelle is physically advanced for her age and she was not concerned. Which was confusing because she was pointing out all these things "wrong". I told them I would like to meet with the OT person like once a month for more of a physical checkup on her continually meeting her milestones and to learn exercises that can help her. Ok I guess I'm done venting about all that. :)

 

Still just waiting for our insurance to approve to pay for all of Noelle's tests. They denied paying for one and we are waiting for the insurance doctor and the geneticist to talk. I'm so over waiting but I am learning a lot of patience. 

 

Noelle is army crawling like a champ and harassing her brother by trying to get all of his toys. Lol

We had Noelle's OT evaluation. She felt that Noelle had a slight tilt of her head and wants us to do stretching. She also felt that Noelle's hand grasp was at the level of a 5 month old but she is 7 months old. Noelle didn't seem to like the OT much and cried a lot of the time. I'm not sure if she didn't like the stretches or was just tired. I felt like Noelle did all the things the OT wanted her to do and left a little confused. I am unsure if the OT understands Noelle's differences and the appointment caused me to feel very heavy hearted. I'm scared and am tired of this fear. I'm trying hard time giving it all to God and tasting the freedom He offers. Please Lord lift this weight off my heart.

 

I have been doing a good job putting things in a box in the back of my head. But then there are moments of panic, fear and sadness. Sometimes I wish I could rewind the clock and be living in the time we knew nothing. Sometimes I feel like I will wake up and this will all have been a dream. Then I tell myself how dumb and to toughen up. My babies need a strong, fearless, positive and emotionally consistent momma. It's so hard to be Wonder Woman all the time. 

Noelle is still her happy self and just an amazing baby. She is army crawling really well, grabbing everything in sight and loves to laugh at her brother. A lot of times I am able to completely forget about her differences because she's so happy and seems to be meeting all her milestones. It is hard to think that she's behind in her milestones and I don't want to believe it.  
 

Noelle had her full body X-ray and a blood draw for FA. They said we hound hear from our geneticist in a few days about the X-rays and a few weeks about the blood test. We got there early and were seen quick. Noelle cried almost the entire time of the X-rays and a little during the blood draw. While holding Noelle for the blood draw I became really nauseous and light headed. Which is off because I have given blood a ton and don't usually get squemish. I guess I was just over analyzing. The techs at the hospital were really great and so good with Noelle. (Below I attached a pic of the X-rays from Noelle's arms and hands.)

We go to cranial technologies in the morning.  I am feeling some dread and a little fear.  I 100% want to do whatever is best for my sweet girl but I sure will miss all those soft little head kisses.  I'm not sure what the outcome of the evaluation will be and am having some flashbacks to the day of the hip evaluation.  Going into the appointment with the orthopedic surgeon we did not know we would walk out with our 4 day old daughter wrapped in Velcro and nylon.  I am happy those 4 months are past us but I miss those first days with my baby girl.  So I am praying for...I don't know just for easy.  Is that so wrong? Is it so wrong for me not to want my baby to have to wear another contraption?  For tomorrow to show she doesn't need the helmet.  Eh whatever.

So here are Noelle's head scans and they did not recommend her getting a helmet/band. I am overjoyed that she does not have to wear it and was one of the best birthday presents a momma could ask for!

The genticists nurse called today about Noelle's X-rays. She said that both of Noelle's radius bones are shorter and all of her thumbs bones are shorter. I'm still digesting this. She said that the rest of the X-ray did not show any other abnormalities however she did say there was an a bright spot on her skull. She then called it an "anatomic variant" and recommended we see our pediatrician for a follow up. She said that they were unsure of the cause. Thank you God for no vertebral abnormalities. Going to see the pediatrician tomorrow and the hand surgeon on Thursday. I'm hoping there will be a day that I'm not going to a doctor office every week. Praying for patience, peace, joy and strength!

So we just left the hand surgeon at Scottish Rite Hospital. They took a X-ray of Noelle's hand. When they saw the X-ray of her arms the doctor said that the gap from the radius to the elbow could just be that the bone is still forming and that the gap is most likely cartilage that doesn't show up on X-rays. He said that the bones being straight across was a good sign. He said the thumb bones were all short and the left side looked shorter than the right. He said that she is still to young to really tell what kind of surgery she will need. He said that her right hand looked like a good candidate for the reconstructive surgery which means they just move a tendon and she would keep all 5 fingers. He wasn't 100% sure and said he could tell us more when she gets older.  He will see her again when she's 12 months old. 

We had Noelle's hearing screen and everything is normal and her hearing is unaffected. Praise God. 

Noelle is growing so fast and hitting all of her milestones her own way!! She is a professional army crawler now at 9 months and sometimes will push up on her hands and knees. She has started getting these little carpet rash/burns on the top part of her wrists because of how she is crawling. She lathering those little arms up with aquaphor and lotion. She is doing great walking behind a walker and getting into everything possible! We are going to OT twice a month now and learning new exercises. I still do not like how the OT talk about how Noelle does things and tries to say she is "at risk" to fall behind. The OT must not get that my Noelle is a fighter and strong and high spirited! I'm praying for my attitude about that to get better. :) 

(This picture is very bitter sweet. It was the last day I got to hold my newborn baby without the harness on. Ignorance is such bliss.)