SMAelin Strong

This is a great Stanley alternative that also supports an amazing cause!

Cure SMA 40oz Travel Mug Product Description: Take our new Cure SMA mug to go inside this XL double-wall vacuum insulated tumbler. This large mug holds 40oz and keeps drinks cold for up to 11 hours or hot for 7 hours. It features a screw-on clear straw lid with a seal and twist closure to help prevent spills. The large hand...

We will be participating in the Cure SMA walk-n-roll on April 16 @ 10:00. At hilbert college in Hamburg.

We would love if any of our Buffalo friends would come out and join us for this walk to support Cure SMA, an organization that does so much for the SMA community, supporting newly diagnosed families, research, and many other services.

If you would like to donate to the walk-n-roll please follow this link: https://walk-curesma.donordrive.com/index.cfm?fuseaction=donordrive.participant&participantID=7126

And if you would like to join our team and join us on the walk follow this link: https://walk-curesma.donordrive.com/index.cfm?fuseaction=donorDrive.team&teamID=5465

We hope to see you there!!

"let it snow, let it snow, let it snow" ❄️

With the holiday season creeping up on us we wanted to share some exciting news! Aelin has been accepted to participate in a three-week physical and occupational therapy intensive in May of 2023 in Boston. We are so thrilled to have been chosen for this opportunity as we know that it will be so advantageous to her improving her strength and mobility.

These services aren't covered by insurance so we are requesting that anyone who feels compelled, or would normally buy her a Christmas or birthday gift, would give to our gofundme instead. We can think of no better gift than this for our baby girl.

Thank you all for your unending love and support, as always.

Aelin goes to NAPA Center Boston, organized by Brittainy Howard If you’ve landed here you probably already know Aelin and what a precious and speci… Brittainy Howard needs your support for Aelin goes to NAPA Center Boston

Yesterday this girl gave us all a wonderful Christmas gift, of sitting for 2 minutes independently!! It is truly a Christmas miracle! She surprises us every day, to God be all the glory and praise forever and ever, amen.

Merry Christmas everyone. 🎄 ❄️ 🎅

((Aelin is nine months old, almost seven months post Zolgensma. ))

During our Thanksgiving festivities tonight we played a game. We were asked to write down one thing we were thankful for on a piece of paper. Normally choosing just one thing would be such a challenge, there is so much to be thankful for. Not this year, this year I am far and above thankful for one thing. This year I am thankful for Zolgensma.

This week marks six months since Aelin received her infusion of this miraculous drug, six months of growing, changing, improving, reaching “inch” stones every day. Six months of being able to cuddle my baby, nurse her, get to know her silly personality, see her laugh, cry, smile, and crinkle her sweet little nose. Six months of seeing her breathe easier each day, six months of watching her little arms and legs continue to move more fluidly. Six months of knowing that she is getting healthier, stronger, more resilient. There aren’t words to explain the feeling of knowing that one infusion marked the difference between life and death for your infant child, there isn’t a way to fathom what life would be like without this medicine, without the scientists that made it possible for my baby to keep living. Not only to survive but to thrive in this life.

So what are we up to six months later?

Aelin is reaching her arms in all directions, grabbing toys from laying down and when propped up, chewing on everything she can get her hands on, drinking from a straw cup, feeding herself with her spoon, and finger feeding herself little foods too. (especially puffs and canned oranges) She can grip really well with both hands and throw her spoon to the ground with the best of them. She is working so hard on her rolling and can do about 75% of the roll without assistance, and getting better with it every day. She can sit up unassisted up to 15 seconds and with the boppy for minutes at a time. The last few weeks she has started putting weight through her feet when placed on the floor and is working on assisted transitions from sitting to standing. She loves her otteroo float at bath time and can do a full roll when she has it on in the water! She turns the pages of her books, plays peek-a-boo, says “hi” and “boo” and is starting to understand a few signs.

She knows who dada, mama and briar are and definitely recognizes the intro music for Baby Einstein. She still loves heavy meatal and rock and roll and is instantly calmed down from major crying fits by “the game” by motorhead. She is a complete ham most of the time, tries to steal my coffee from my hands, loves petting her puppy, and works so hard every day. She is an inspiration, to me, to cody, to anyone who meets her. She is sunshine. Her laugh is infectious.

We cannot wait to see how much more she accomplishes in the next six months.

videos in comments since it won't let me add more than one in the original post :)

It has been a while since we updated here, I apologize. Life has been chaotic, beautiful and busy since Aelin’s infusion. After her initial bout of nausea and difficulty Aelin handled the steroids like a champ. She had some grumpiness from time to time, to be expected but otherwise experienced no major adverse side effects. Although it has given her the most kissable chubby cheeks. She was able to come complete off her prednisone last week and is doing remarkably well. All her lab values are within normal ranges, after having varying degrees of elevated liver enzymes and troponin over the course of the three months.

She has started PT and OT through early intervention, being seen a total of 3x per week at home and has been blessed with amazing care providers that have already helped her progress tremendously. At her one-month post infusion checkup she had improved her functional assessment score from 22/64 to 31/64, a huge leap!! At her 2-month post infusion appointment she had improved to a 45/64, the neurologist said that is the fastest improvement she has EVER seen in a child they have treated with Zolgensma. PRAISE GOD!! And at her three-month post infusion appointment she had increased to 46/64!

At the time of infusion Aelin had little to no head control, couldn’t lift her arms off the ground, was starting to have some breathing difficulties, had negligible lower extremity movements, could not tolerate tummy time, had no grip strength to speak of, and was having some low tone in her sucking strength causing issues with latching properly during nursing. We are proud to say that she has come such a long way in every one of these areas. She can sit on our laps, in a carrier or propped up with remarkable head control. She is able to grasp and bring toys to her mouth, she especially loves her teething toys. Her pulmonary team is amazed with her lung function, and her chest x-ray last week was perfectly normal.

She helps mama and daddy spoon feed her oat cereal and is about to begin purees in the next few weeks with help from our wonderful occupational therapist. She is always flexing her ankles, knees and toes, and when supported can straighten and bend her knees very well. She moves her full legs when in the tub, which is one of her favorite activities! She is able to tolerate tummy time in various positions now, over a wedge, a boppy and on the therapy ball, even flat on the ground. She hit a major accomplishment on 8/11/2021 when she turned her head from cheek to cheek while on her tummy during physical therapy and continues to show off that skill, getting better and more fluid every week. Her grip has improved exponentially, she can hold to our fingers when we raise up her arms in the air, pull mamas hair, grip my necklace and pull daddy’s beard too.

I am sure there’s dozens of other things I am forgetting to mention, some small and some large. I will update this page as we continue on our journey, with more regularity I promise! Our girl is a true miracle, a testament to the power of God in our lives and she continues to bless us every single day. Thank you all for supporting us through this difficult time, we appreciate every text, phone call, comment, like and all the prayers most of all.

We love you all!!

Hello everyone!!

The last two weeks have been great and difficult all at the same time. Aelin is moving her arms more every day, she’s learning to put her hands in her mouth and loves to grab onto her tiny toy maraca and teether toy! When she’s in the tub she loves to put the bubbles in her mouth 😂

We’ve noticed increased leg movement in and out of the tub this last week, and Aelin smiles so big when she gets her legs moving. The prednisone is making her a very grumpy girl most of the time and we are learning how to comfort her and keep her calm a little better every day.

She is eating a ton, so mommy is too! We started physical therapy recently and have another therapy evaluation coming up today. She passed her swallowing evaluation with flying colors last week. Things are looking up for our sweet baby and we know she will move mountains. God continues to bless us exponentially and we continue to praise him in every moment that we have with our growing girl!!

We have been on an emotional roller coaster since our Zolgensma dosing day. This sweet girl has been such a trooper! Friday was relatively normal, a few episodes of vomiting, and more tired than usual. We got in lots of cuddles and contact naps, overall had a decent day. Saturday evening Aelin became extremely fussy, if she was awake she was crying 😢

Her last feed on Saturday night she vomited most of it back up. Slept well, and then continued to vomit her feeds immediately the next morning. We contacted her team of specialists on Sunday to get a new anti nausea medicine. She also started to spike a fever during the day (normal side effect from the viral vector used in the zolgensma treatment) her specialist informed us if she continued to vomit and her fever got above 100.5 we would have to go into the ER at Rochester for her to be monitored/treated.

After taking small amounts of pedialyte and switching meds that afternoon she was finally able to keep down very small feedings and her steroid medication. It was a horribly scary day for all of us.

Yesterday was some better and we are still figuring out how best to give her reflux medicines to keep the vomiting at bay. This is such a learning process for all of us and she has been so brave through everything. Giving us big smiles and lots of snuggles. We can already see changes in her arm and head movement, although subtle. Which is so incredibly encouraging. OUR BABY IS A FIGHTER and she is going to do amazing things. ♥️

Infusion day is here!! Mama got to press start on my miracle treatment. 💕✨👏🏼

We had a full day of appointments at Strong Memorial in Rochester today. We met with the neuromuscular specialist several times, the pediatric nurse practitioner, pulmonologist, GI specialist, had a PT assessment and liver ultrasound and had many labs drawn. Our baby was so brave all day long, even through all the poking and prodding. Following all of her assessments and blood work we have been cleared to receive the Zolgensma gene replacement therapy Thursday morning, PRAISE GOD!

We received insurance approval this morning, in record time per the hospital. They have been so overwhelmingly helpful through this whole process, helping to fast track each step as much as possible to get Aelin the treatment that she needs as quickly as possible. Today she had slightly elevated liver enzymes, so we are keeping an eye on that, as Zolgensma does run a risk of increased liver enzymes following treatment. The specialists did not seem to think that it was enough risk to call off this life saving treatment.

The pulmonologist gave her a clean bill of lung health, which is fantastic news. Many children with SMA type 1 present with breathing difficulties at this stage, but her respiratory rate, heart rate, SPO2 and lung sounds were healthy today.

God has truly moved mountains during this process since our first doctor’s appointment, allowing us to receive treatment in record timing and placing us in contact with all of the right doctors and support systems. To Him be all the glory! We know that all of the assistance we have received is from Him and that none of this would be possible with his guiding hand.

Keep us in your prayers continuously. We are so extremely optimistic for our treatment on Thursday and cannot wait to see the amazing things this girl achieves.

Our sweet daughter, Aelin, was diagnosed with spinal muscular atrophy on 5/21/21 at 10 weeks old. Spinal muscular atrophy (SMA) is a progressive neurodegenerative disease that affects the motor nerve cells in the spinal cord and impacts the muscles used for activities such as breathing, eating, crawling, and walking. It is the number one genetic cause for death in infants.

But that isn’t where our journey began. Around 6 weeks old we noticed that Aelin wasn’t making progress toward her motor milestones, when on her tummy she wasn’t moving her head much, when on her back she wasn’t bringing her hands to her mouth or kicking her legs much at all. My mama heart told me something wasn’t quite right. At her 2-month appointment the pediatrician confirmed that she was having some increased difficulties and informed us that she had low muscle tone throughout her body. Hypotonia is a common symptom seen in infants and can be related to 100s of different official diagnoses.

Then the doctor mentioned those three letters… SMA. He recommended that we follow up with a neurologist as soon as possible to rule out this progressive genetic disease that could wreak havoc on our daughter’s body and potentially steal her life. We spent the weekend deep in grief and prayer, doing way too many google searches about every possible cause for hypotonia. We followed up with neurology on Monday, who confirmed that he too was fearful that SMA could be the cause of her low tone.

In record time we got an appointment scheduled with a prominent neuromuscular specialist at University of Rochester, Dr. Emma Ciafaloni. A leader in the diagnosis and treatment of these sweet babies with SMA. We endured a grueling day of physicals, PT evaluations, blood draws, EMGs, muscles ultrasounds. Our girl was such a trooper, taking it all in stride, she was so brave! Dr. Ciafaloni was also fearful that SMA was a likely diagnosis for Aelin, but she explained to us that there was hope! A new treatment is available for these angels with this devastating diagnosis.

We received our official diagnosis on Friday 5/21, one week following her initial appointment with the pediatrician. This was truly the work of our Lord. Getting in to see all the doctors in record time, and her bloodwork results came back in two days instead of the expected 2 weeks! God has been so good to us so far through this process and we know he will continue to bless us as we proceed with treatment for our sweet daughter.

We meet with our team of doctors again on 5/25 to discuss all our options for treatment. If Aelin would have been born 2 years ago, this revolutionary new gene therapy treatment would not have been available to her. In 2018 the FDA approved the use of Zolgensma, a gene replacement therapy for children under two years old who are diagnosed with SMA. Zolgensma is a one-time infusion that replaces the faulty SMN gene in the body, stopping the progression of SMA and allowing the child to make progress toward more normalized motor skills.

We don’t know how much permanent damage has been done to Aelin’s motor neurons in the weeks that she has been symptomatic. But here is what we do know, she is still breathing independently without difficulties, she is still swallowing and eating well, she is able to move her arms in a gravity eliminated position (i.e. by her sides), she is able to move her hands and feet very well, she is not currently demonstrating much movement in her legs unless we are in the tub. Her facial muscles have not been affected, she smiles big and frowns even bigger and her cry is very strong and loud.

We are beyond blessed that we caught this disease before it took a toll on her breathing or swallowing function. While we don’t yet know what the future holds for our girl, we do know that she is going to improve, we will be participating in PT and OT as soon as possible (and her OT mama will be working diligently with her as well), and that her life will be a testimony to the goodness of God. He has already moved mountains to get us the help we need rapidly and we know He will have his hand in her treatment and rehabilitation process as well.

As of now we should be getting treatment by 5/28. We will keep everyone updated on her treatment plan and progress following gene replacement therapy. Thank you for joining us on this journey and please keep us in your prayers.

SMAelin Strong updated their business hours.