Important Links

I wanted to make a separate post to put some links that I am constantly sending to people.

If anyone is interested in learning more about the research being done and possible cure for Myotubular Myopathy, please watch this video:

 https://youtu.be/LH_Eobc5b24

If you’d like to learn more about the Joshua Frase Foundation, click here:

http://joshuafrase.org

Alison Frase has been an amazing resource and friend through this journey…she has helped me get in touch with so many families like ours! Who knew there was a whole CNM/MTM community!?! We’ve now connected with so many families around the world through Facebook (there are numerous groups!)…parents and even children themselves (many grown up!)…even some parents that are relatively new like we are…and then those who have many years of experience! We’re so thankful for all the information,  experience, love and support they have shared with us, as well as a deep understanding of what we are going through. I don’t know how we could have gotten this far without them!

There are so many warrior parents I could name, but here are the few that have websites I refer to often:

Erin & Mark Ward, and Marie Wood (who is the only MTM mom that I know of living in the 5 boroughs!!) http://www.mtm-cnm.org

Anne Lennox of the Myotubular Trust in UK http://myotubulartrust.org

Melanie Whiston of 

http://www.will-cure.org

…to be continued…

The long road home

Our GoFundMe for Brenden 

Overwhelmed is an understatement, but because I don’t have a word to explain what we’re feeling, I’m going to go with it. We’re overwhelmed by the stress we’ve been going through, but also overwhelmed by the love and support we’ve received from our friends and family. I just want to start this post by thanking everyone who has donated, shared, started fundraisers or even just reached out to say they were here for us and offer a prayer! When the skies seem dark, it’s those special people that can light up the sky like twinkling stars! 

Now, on to our sweet little warrior! Brenden is doing pretty great. I mean, he’s got a long way to go to be like other “normal” kids (but normal is boring, anyway, right?)…but he’s been improving in basically all areas…

 

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1. New findings since my last post: Brenden doesn’t really blink (he 1/2 blinks mostly and once in awhile does a full blink) so he requires artificial tear eye drops, he has his days and nights mixed up (I definitely remember Juliana going through that too), and his circumcision has healed well! We have been slowly reintroducing breast milk to his diet (he has been on Monogen- a special fat free formula since he was cured from the dreaded C-word-leaky-lymphatic-system)…he’s at 50/50 breast milk to formula currently. 
2. He’s getting PT and SLT in the NICU. It’s not something that they necessarily see happen a lot…those therapists are usually more concerned with the PICU kids. However, we fought for it, because I know the earlier you start, the better! The difference since starting therapies has been extreme. Brenden can move/stretch out his arms and legs with more strength than before…and his mouth/facial muscles have gotten MUCH stronger. He can hold on to a pacifier now without us having to hold it for him (until he falls asleep or gets tired). His mouth used to hang open and now he can hold it closed. The therapists think there’s a good chance he can learn (in the future) to eat for pleasure (although his gtube may always be utilized to ensure nutrition).
3. His tracheostomy and gastrostomy have healed well and quickly. We are learning how to do all types of trach care and practicing on both Brenden and a simulator (HAL) to help us prepare for going home. On 6/27/18, we (Mike & I) completed our first successful trach change! He is currently on the same vent settings (cpap with pressure support) as he was before the surgeries but he seems much more comfortable. Historically, cpap is not successful for kids like Brenden, but it seems to work well for him.
4. We toured rehab facilities and decided he will go to Blythedale. Honestly, I did not decide this…but we are being strongly encouraged to bring him there for a few weeks. Blythedale is a great rehab and I don’t have anything negative to say about the place besides the facts that it’s very far and the ratio is 5 babies to 1 nurse. I just wanted to bring him home (where the ratio shows he’d get more attention). We were told we had that option to bring him home. However, we had a “family meeting” with hospital staff on Friday and they feel since Brenden has not been stable for a very long time, he would benefit from an in between place for a few weeks. If there was an emergency, there are doctors and nurses there. Lots of babies go home from the NICU and then are forced to return and those that go to rehab, usually don’t. They praised us for how far we have come in learning to care for his special needs, but pretty much said they’re not comfortable with his stability yet. While I understand their points, it kind of felt like my chest was turned inside out. I just want to bring my son home. He isn’t like other kids and a few weeks isn’t going to change that. He’s going to get nursing at home…and I feel the only way for us to learn how to really care for him is to REALLY care for him! But their argument is that while we have been training, we’re not nurses and what if a nurse doesn’t show up, etc. We can train more at the rehab. My argument is that we’re going to have the same issues when we leave Blythedale because Brenden will still be Brenden and it’s better for us to learn now while I am on summer break…and this way both Mike and I can consider going back to work in the fall. Just going to the hospital and home each day is exhausting and has turned our lives upside down, besides the financial portion. Now we’ll have to go even further than E. 68th St & York, but to Valhalla, NY. It will take 1 1/2 to 2 hours each way. We can’t take public transportation so that means when Juliana has swimming class or anything, we both can’t go to Brenden that day & we can’t stagger visits as we have been. Juliana can come, but as much as they say it’s “more or a home environment than a NICU”…it’s not home. Plus, I’m sure being in a hospital with a 2 1/2 year old will be tons of fun. I mean, you’re not fooling anyone with your bushes cut like elephants, giraffes and dolphins…I know what you guys are! lol But I guess I don’t really have a choice now. It’s not about me. It’s not about Juliana, although it hurts me that her needs are also pushed to the side. These people got us to this point with Brenden and Mike says that if they are concerned and think he needs more time, and that this would be in “Brenden’s best interest”…then maybe we should just listen… 🤷🏻‍♀️😓 I know he’s right. It’s just hard. Plus, the only other MTM mom in the 5 boroughs put 2 of her son’s into Blythedale…so they have a level of familiarity with MTM (although it was 8 & 10 years ago).
5. In the meantime, however, there are no available beds at Blythedale! Lol So Brenden was put into a step down type NICU room yesterday, which is good news. It will be at least a week or two more to set up receiving the equipment/supplies, setting up home nursing, figuring out which doctors we go to once he’s discharged, etc. We are also actively apartment hunting (we think we found one!) and hope to be moved within 2 weeks, too. So within a few weeks, if there isn’t an opening at Blythdale…we’ll have to reconsider what the hospital said about him needing more time. In my mind, if Blythdale doesn’t take him in 2-3 weeks he isn’t going…but we’ll see.

Stay tuned!

Brenden’s Story

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GoFundMe: Bringing Brenden Home

Our son, Brenden Matthew, was born on April 1st, 2018 at 9am via emergency C-section. He was completely “floppy” and not breathing (with an Apgar score of 1). Brenden is our rainbow baby, conceived naturally after numerous failures with IVF (& more than $10,000 later). We prayed and prayed to be blessed with another baby and were given our amazing son. We made sure that we went to every single prenatal appointment and took every test available to ensure Brenden’s safety. I even gave up drinking caffeine! 

However, Brenden was born 4 weeks early, and diagnosed 16 days later with a rare genetic disease that is not tested for and that can not be detected or treated in utero. Brenden has x-linked myotubular myopathy (xlmtm). It’s a condition that primarily affects muscles used for movement (skeletal muscles) and occurs almost exclusively in males. It is a rare disease that affects 1 in every 50,000 males. People with this condition have muscle weakness (myopathy) and decreased muscle tone (hypotonia) that are usually evident at birth. Many children do not survive birth or infancy and those that do…well, there’s a big spectrum…mild to severe…with most living their lives attached to ventilators, in wheelchairs, requiring life long care. However, some can be somewhat independent. It all depends on the level of care, lots of good luck and the child themselves. Additionally, this genetic disease does not affect brain development. So, essentially…Brenden’s thought processes and mental learning abilities are expected to normal. XLMTM affects his body, not his mind.

On top of this diagnosis, Brenden suddenly came down with an unexplained case of chylothorax, just 1 day after we were told about XLMTM. This means he had a leaky lymphatic system which caused double plueral effusions, a pericardic effusion and ascities. The doctors were concerned that they would not be able to cure it, as his case was so severe. He was in so much pain that one night, Fentanyl wasn’t even enough and he needed to be given Versed too! It was excruciating for us to see him in so much pain! However, the doctors did set up a plan to cure him…inserting 4 tubes in his body draining fluid (plus a Foley catheter and another tube pulling gases from his stomach…so a total of 6 tubes), holding all feedings for 2 weeks then changing his diet, and giving him a medicine called octreotide…& they were able to save our little boy!! THANK GOD!! After his upcoming surgeries…they hope to slowly reintroduce breast milk and watch closely that the chylothorax never returns!

Additionally, Brenden was born with a blood clot outside of his brain that is being treated with twice daily injections of blood thinners. There are also a few other minor (in comparison to everything else) issues.  The doctors have said multiple times that there is no literature or any studies about any child like our son.

Back to the XLMTM…now that the chylothorax is basically cured…we are awaiting surgery to plan his next steps…a tracheostomy, gtube (feeding tube), and a recovery period in the NICU followed by a training period at a hospital/rehab facility (1 of 3 that are located at least 1 hour away from our home…Blythedale, St. Mary’s or Elizabeth-Seton…depending which has availability). We’re not sure how long that stay will be. Juliana has not met her little brother yet (although, they do FaceTime) and will only get to when he is transferred to the rehab facility.

When we found out the diagnosis of XLMTM, we immediately started to do research to find others like Brenden. Through reaching out on Facebook, and finding Alison Frase of the Joshua Frase Foundation and Anne Lennox of the Myotubular Trust…we were connected to families all over the globe that have children with this rare disease. These families have been so nice, open and candid about sharing their experiences. I know we will learn so much from these fierce warrior parents and their children!

Brenden has also been receiving the best care by the most amazing and brilliant doctors at Cornell. His neonatologists are incredible, as are the slew of other doctors he has met (neurology, hematology, genetics, respiratory, surgery, ENT, etc). Plus, he is so popular among the nurses and nurse practitioners! They all treat him with such love and care. It takes very special and strong people to work in a NICU and they are for sure, extremely wonderful and good hearted people.

Through it all…Brenden has fought hard and bravely…and is a happy, sweet and smart little boy that rarely complains. He is alert, moving more and more, and although he can not make any sound right now (due to being intubated) he can express himself and communicate with facial gestures. He is on cpap support through a vent tube, which is holding his airway open and he has difficulty swallowing secretions due to his low muscle tone. He is receiving PT and SLT, thanks to us fighting for it like crazy. He has shown a great deal of improvement, but he’s still not as strong as other babies his age. He will continue to improve, but to what point is unknown to all of us, except God and Brenden himself. His Daddy, Big sister and myself will be right by his side, advocating and loving him with all of our hearts…we are his biggest fans and we know that God has big plans for our little man! 💖

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