I have typed and deleted this post at least 100 times. I avoid getting too personal on my blog because it’s just not what I typically do, or what I feel you are particularly interested in seeing over here. But today I’m taking a break from decorating tips and DIY tutorials to share with you the story of my youngest son, Zephan. Zephan is currently 8 years old and is a rare and special boy! He loves trying new foods, writing stories, watching movies, and making people laugh. Zeph has a delightful sense of humor for his age and is quite the entertainer. He is our little ham and keeps us giggling with his antics. And Zephan is also a kiddo with a suspected rare genetic disease that causes his bones to be extremely fragile. 
Medical students are often taught the adage, “When you hear hoof beats, think horse, not zebra.” In other words, the simplest medical explanation for symptoms is typically the best. This makes a lot of sense and probably saves people from undergoing unnecessary medical tests. However, sometimes those symptoms (or hoof beats) are not created by a horse at all. Sometimes it is INDEED a zebra! Although we do not yet know what is causing Zeph’s symptoms, one thing is for certain. Zephan is a rare medical zebra! #ZebrasforZephan
I knew something was wrong with Zeph from the time he was a baby. He was delayed in sitting up, crawling, standing, and walking. I worked as an elementary school counselor at the time and knew that early intervention services were free in our state and could be helpful. Zeph was evaluated at eighteen months and found to have significant gross motor delays. He qualified to receive physical and occupational therapy and began receiving treatment every week. But I always questioned why? What was causing my otherwise healthy and smart boy to struggle so much with walking, running, and jumping? Why did he always waddle when he walked, why were his feet so flat, and why did his ankles pronate?
Zephan also fell and tripped a lot. When he had broken three bones by age 3 from minor incidents, I pushed for a referral to see a pediatric orthopedist and asked for help. I was told that his X-rays appeared to be normal and to continue with the physical therapy. The orthopedist also added that Zephan “might not ever become a star athlete.” This comment angered me. My concern wasn’t about future sports. All I wanted was for my baby to be able to walk and run with less difficultly and to stop breaking bones. I remember Zephan asking me as a preschooler why he couldn’t run and what was wrong with him. Even he knew that something wasn’t quite right and that we couldn’t just “physical therapy” our way out of it.
We had a respite from broken bones for four years and I started to believe that maybe this was something he would grow out of in time. Zeph still couldn’t run or jump with much agility, but he seemed healthy, happy, and vibrant. I enrolled Zephan in kung fu this past fall and was so proud of how well he took to it! And then in October things all began to change. Zephan was pushed while playing around with a friend at school, fell backwards, and fractured two bones in his wrist. A few weeks later he was playing in a friend’s backyard, tripped over a ball, and fractured his femur–badly. It required two days in the hospital and a whole new way of doing everyday life. I begged the team of orthopedists that were tending to all of these broken bones to help direct us to someone who could help us figure out why this was happening. I was told to wait until Zephan was out of all of his casts. They assured me that Zeph would be walking again in two short months. It took Zephan over five months, and he is still not walking unassisted. (His femur did not heal correctly and will most likely need surgery in the future. Zephan walks with a walker.) I begged again for help and was referred to a pediatric orthopedist who looked at Zeph’s X-rays, said they looked normal, and referred us to a geneticist. Our insurance doesn’t cover genetic testing so this did not seem like a helpful recommendation at the time.
When Zephan tried to use a walker for the first time, he fell on carpet and fractured his other wrist. This was the final straw for me. We were not waiting any longer for someone to help us. I switched Zeph’s primary medical care from his pediatrician over to my own family physician and finally felt that I had a medical advocate on my side. I requested that Zeph receive care, two hours away from us, at Children’s Hospital of Philadelphia (CHOP) and we began making our rounds through the various specialists at CHOP back in April. We have visited the Metabolic Disease Center, the Orthopedic Center, and the Bone Health Center. Our next stop will be the Neuromuscular Program.
After all the medical tests, this is what we know so far for sure:
- Zephan does not clinically fit any known profile based on his symptoms, history, and blood work alone. They just aren’t able to diagnose him by looking at the current data.
- Zephan’s extensive blood work and urinalysis are all maddeningly normal, including his nutrition and mineralization levels (Calcium and Vitamin D).
- Zeph has severe osteoporosis of his bones. He had a test a few weeks ago called a DXA scan which measures bone density. A DXA scan score of +1 to -1 is a healthy score range, -1 to -2.5 suggests osteopenia, and anything lower than -2.5 suggests osteoporosis. Zephan’s score was -4.22. His bones are 42% eroded away.
- Zephan does not have any typical form of Osteogenesis Imperfecta. We paid the 2K out of pocket for a genetic test for a brittle bone disease called Osteogenesis Imperfecta. The test came back normal for all of the types of OI that they tested for.
- Zephan will begin bisphosphonate infusions to try and increase his bone density. This has side effects, isn’t typically used in kids, is somewhat controversial, and I’m not even sure is the best decision in the long run. However, it’s the only treatment available and we feel we have to do something to stop his bones from eroding away.
Our medical insurance is quite horrible and does not cover the cost of any genetic testing. In order to find out if Zephan has a neuromuscular disease, or a rare type of OI we will need to pay for more genetic testing. It is insanely expensive and my dear friend Darlene has started a GoFundMe campaign to help offset the cost of our already horrendous medical expenses. I didn’t ask her to do this and am so humbled by the outpouring of love and support for our family. I feel super weird and prideful about the financial costs involved in caring for our special needs kiddo. He’s our responsibility. Everyone has bills to pay and trials in life to deal with. And while my family is not well-off, we certainly aren’t destitute either. We are still living our lives, going on a summer vacation, and trying to enjoy each day as a gift. There were two simple things in life that I wanted to do with my boys when they were old enough: 1. Hike the Rocky Mountains and 2. Take them snorkeling someplace tropical. Zeph will probably never be able to hike, but he can still swim, so we leave for Cancun soon! I’m not sure what the future holds, so I’ll be darned if we don’t get to see some tropical fish together while he is still strong enough to swim!
What I’m asking of you is to pray (or send positive vibes) our way. Pray that Zephan’s doctors are able to find answers and treatment for Zephan. Pray that we are able to get the full genetic testing needed to determine his disease. Pray that Zeph will be able to walk again without the use of a walker and that his bones will become strong enough that he can play with other kids. Pray for all kiddos and parents dealing with the crushing effects of genetic disease. And pray for our health care system. I don’t know how anyone can afford to be sick in this day and age of insanely bad medical insurance.
Thank you for visiting me at my blog. This blog helps me pay the bills and keeps me sane! Your love, care, and concern for me and my family is incredibly humbling, and I’m so grateful for all of you. And hey, this prayer/positive vibe thing goes both ways you know, so please feel free to comment or message me with your prayer requests. I know there are a ton of you reading this right now that can relate. Xoxo!
-Beth
Praying for you and your family! “Trust in the LORD with all your heart and lean not on your own understanding”. Your son is blessed to have you by his side!
I’m so sorry your family is going through so much. It’s so very hard to go without a diagnosis. Our thoughts and hopes are with your family. You are loved.
Thank you Deanne! 🙂
Praying for your sweet boy and for you! Hugs!
It sounds like you are being such an amazing advocate for him, Beth. Praying that answers start coming, as well as solutions. Will be thinking and praying for you and your wonderful family.
No need to respond, but wanted to tell you that I will be thinking of and praying for your son and your family. I know as a parent this has got to be the most difficult thing you have ever gone through. Sending you strength on this journey. Blessings, Shannon
Sending so many positive vibes your way! I can’t imagine how frustrating it must be to have NO answers…to feel frustration rather than relief each time a test comes back negative because some answer would be better than no answer! Zephan looks like such a happy little boy, and it speaks volumes about your family that he has such a positive attitude! 🙂
I can totally relate to your feeling of being so angry at the doctor that said he might not be a star athlete. When my oldest son was only a few months old we noticed a metopic ridge on his forehead, indicating that two of the plates of his skull had closed too early – which is some cases can lead to major problems as the brain is unable to grow properly. We took him for skull xrays and then went to meet with a team of specialists at our Children’s Hospital. We were so anxious for the appointment and scared knowing there was a potential need for major skull surgery, brain damage, etc. When the doctors finally came in to speak with us, the first thing one of the doctors said was not too worry because he could still be perfectly handsome with a ridge on his forhead and that Heath Ledger has a metopic ridge too. I wanted to scream! How could she think we were there because we were worried he wouldn’t be handsome – we were there to find out if his brain would grow properly!! Some doctors just don’t know how to talk to parents!!
Beth, I’m praying that Zeph will not only climb mountains one day, he will MOVE them! Hope you are having a fabulous vacation because your entire family deserves it!
Thank you so much Jane!
Oh, Beth, I’m so sorry. I hate that y’all are in limbo and that y’all are having to go through any of this at all. I will certainly be praying! XO
Thank you for sharing this with us. It cannot have been easy, nor can living with this uncertainty every day.
You know how people say ‘kids don’t break, they bend or bounce’? We found out the hard way that isn’t always true.
When my daughter was 2yrs old, she fell on our floor, which was carpeted, and complained about her arm hurting. For the next few days, she complained on and off about her forearm, and continued to fall on it. I took her into a doctor and found she had, in fact, broken her arm. She was fitted with a removable cast which she wore for several weeks.
One year later, she started complaining of leg pain. Due to the broken arm experience, I took her in right away but doctor visits and xrays showed nothing. The pediatrician was concerned and started testing for cancer. Blood testing and a crazy x-ray (the unit pulled down from the ceiling and was the size of a VW bug) revealed not cancer, but another break in her leg. Her pediatrician referred us to a genetic center, which was paid for as we live in Canada.
My daughter was looked at and diagnosed with Familial Hyper-Mobility Syndrome. She’s circus flexible basically. However, with that much bend-ability, eventually her bones can’t take the pressure and break. She inherited it from her father (Familial) who had always been super flexible, but never had any idea it was actually a ‘thing’. My husband broke mostly ankles as a youth, and while coordinated, was also extremely accident prone. He broke his ankles so many times that, as a married couple, we finally just bought him an air cast because it was easier to live with.
My daughter is now 11.5yrs old, and hasn’t broken any bones since she was 3yrs old. My son does not seem to have inherited it, though we haven’t had him tested. We live with the hyper-mobility and keep an eye out for possible problems, and there are a handful to be aware of.
While I doubt your son has the same thing, I hope you too can find answers for both him and yourselves. Know that many are thinking of you and yours, and we hope for things to get better, sooner rather than latter.
Thank you for sharing your story! I’m so glad to hear that it wasn’t cancer and that your daughter is healthy and doing well. I hope we are able to find some answers soon too. I’m hopeful.
Dear Beth;
I don’t know how well I would handle this if it were my son, but thank goodness that you have such a great attitude; I am very concerned and want you to keep us in the loop. What a handsome family you have, I wish you all the best. My sincere regards and high hopes for solutions.
Hey Beth …. & your gorgeous, handsome …. & cute little Zebra!
I can fully appreciate all the frustration that you are experiencing with your little Zebra while attempting to find a diagnosis .. However, as one who lived with a very rare unknown/unnamed disease until I was 28yrs, when it was finally … discovered .. only months before I managed to get my diagnosis, but by which time I was once again paralysed & immediately transported to the ICU.
However, giving a name to the disease really didn’t make much difference to me …. because there is no cure, only treatment …. at best, but nothing to stop the paralysis, only rehab. once my damaged nerves begin to regrow. So, my point in sharing this with you, is that even if you find a name for what is causing your little Zebra all his bone breaks, the main thing to concentrate on, is putting your funds towards his treatment as opposed to a name. Only if genetic, or dna testing will assist in his treatment that will give him a far greater quality of life … a name is just that … a name.
I’m now 62 & have been paralysed several times during my life starting in my mid-teens, due to this rare neuro disease. I also managed to inherit Essential Tremors from my father, although as he died at 60, he wasn’t aware of what caused his tremors. I didn’t even realise that I’d inherited them until I was 60. At least this is something that is not rare & is the same brain op as for Parkinsons disease. This will hopefully assist me, as long as the other rare Just think, even this operation wasn’t available 10 years ago … so, things keep changing & medical knowledge continues to grow. However I also have ‘weird’ seizures that show nothing on EEG’s … but this doesn’t stop them from happening under certain circumstances. I’ve learnt to just accept that they are caused by something un-discovered to date … & maybe one day after I am gone, they will discover what causes such seizures.
I truly understand that you need to know what to call this medical condition, but maybe your little Zebra, isn’t so much of a Zebra, but is more of a Unicorn! 🙂 He is one & only with this, or the first to have presented with it. I’m not sure if Unicorns also swim, but as they are one of a kind & magical, I’m sure that your little Unicorn will love his snorkelling with the colourful fish … Please consider a little of what I’ve experienced & consider spending that money on your holidays, than on genetic testing, unless it will assist in positive treatment that is unavailable now.
Medical discoveries are constantly growing … daily … which also proves that there is still a great deal to be learned. Just do what you feel is best for your little Unicorn … because Mother really does know what is best for her child. I’m sure that you will make all the right decisions … & I wish you loads of love & light … & healing energy not only for your little Unicorn, but for the whole family as I’m also well aware that frustrating medical conditions impact on the whole family.
Most of all, I look forward to seeing all your photos from your wonderful snorkelling trip with your magical, swimming Unicorn!
Warmest Regards, Wendy ….
Thanks for weighing in Wendy and many blessings on your health. I respectfully disagree with you though. We have given a lot of thought and prayer to Zephan’s health and while we fully recognize that genetic testing may lead to a dead end, or to a diagnosis with no other treatment options, we hold onto the hope that it will be helpful either way to definitively know more about his condition. Our choice is also not one or the other. We plan to both diagnose AND pursue any treatment options that are available.
Hi Beth …
I appreciate your response … & I certainly understand your wish to find a name/diagnosis & a real understanding of what is causing all these problems for your little Unicorn. I pray that with the increase in both genetic testing, as well as what is sure to come from it, the mutating of incomplete, or incorrect genes, or the addition or subtraction of them, or just turning on & off of some, that all this will cause a cure for your little man.
Coping with something when you really don’t understand what it is, or why it is happening is always a major challenge in life as it’s like going into battle, blindfolded. So I truly appreciate all your searches to find a name/diagnosis for your gorgeous little Unicorn. I genuinely wish & have been praying that you will not only find a diagnosis, but a real treatment &/or cure for your little man. As a mother & Grandmother … I truly relate to the agony of watching your child suffering pain & incapacity & being unable to do something to relieve it, let alone understand why. Our brains just don’t seem to be built to cope with what we don’t understand.
I was also excited to read the many encouraging comments referring to all the medical research that is happening around the USA that may be available to you. It must have given you so much more hope & many more strings on your bow to test out.
Perhaps my comments appeared to be more myopic because we only have a population of 23million in Australia, that, although for our population we do quite well in the way of medical research, we have nothing like the medical researchers here that you appear to have in the USA. Sadly many of our best often leave Australia to perform their research because we have neither the population, nor the philanthropy that is available in the USA. The only thing that we do have however, is an excellent health system so that someone in my position has specialists who are also able to access other top specialists in the country & o’seas, and now with the internet, even better contact with o’seas specialists & researchers, without all the extreme out of pocket costs that you seem to have in the USA. Thank goodness for both the collaborative efforts of researchers, as well as the internet, making so much information much more available to be shared around the world. Having worked in Medical research many years ago, it was mainly after papers had been published, that new ideas emerged, but to see just how far we have come in even the last 10 years just blows my mind. I pray that in another 10 years children won’t have to suffer as they do today.
As I said before, I look forward to seeing all the photos of your swimming amongst the colourful fish on your FB page. As a fortunate Aussie, I’ve spent time up around the Great Barrier Reef …. & seen all the amazingly beautiful fish & corals we have up there, so I really look forward to seeing the beautiful fish in your area of the globe. Warmest wishes to you & your family, Wendy
Health is wealth and the older I get (I’m 40 btw) the more I realise how true this is, even more important is the good health of my children. I’m so sorry to hear about your son Zephan. I truly hope that he will soon have a diagnosis so he can receive the treatment he needs to prevent these issues happening again. I hope he will walk again unaided and be able to run. I wish you and your family a wealth of good health and happiness. With every best wish to you from Ireland x
Thank you Denise!
Beth, Zephan is an adorable little boy and I hope you find answers soon. Please know I will keep him and your family in my thoughts and prayers.
Hugs,
Sherry
Thank you Sherry!
Praying they find answers for him soon!
My 23 year old son is also a zebra in a world of horses. When he was a young teen he began falling ill with upper respiratory infections on a regular basis. We were at the pediatricians office every 6 to 8 weeks for antibiotics. For years our pediatrician thought he was simply very susceptible to upper resp. Finally, after being hospitalized with pneumonia three times within an 18 month period, we were referred to an allergist. By the providence of God, this allergist had done her residency with an immunologist. When my son’s allergy tests all came back negative, she suspected something immune related and ordered BOAT LOADS of blood work. She discovered he has a Primary Immune disease called Common Variable Immune Deficiency. Praise the Lord a therapy has been developed in the last 20 years whereby he receives an intravenous infusion of gamma-globulin every month and can for the most part live a normal life. He graduated from college on May 9 and we couldn’t be prouder. Your story of searching for a diagnosis for your son touched me and brought back all those thoughts and feelings of inadequacy and fear. I will pray for answers for your journey from the doctors who are now searching with you for that diagnosis. Yay, Zephan for your bright spirit and sweet smile!!
Marty, Thank you for sharing your story with me and praise God that your son is doing well! And how exciting that he just graduated from college. How proud you must be! 🙂 I have never been more terrified of the uncertainties in life as I have these past 8 months. The unknowns are all very scary and unsettling, but I cling to hope that there will be a diagnosis and treatment for whatever is going on. Your story gives me further hope! God bless!
sending many, many prayers up for you and your son!! I agree that this healthcare system of ours is horrible! My dad has been dealing with health issues for years now, they think they have found the “reason”, name it, then decide nope, not it. Hes been going thru this process for over 16 years now. He has actually had drs at major hospitals say they cant help him and to go elsewhere. Its frustrating, maddening, disheartening…I just want my Dad to be DAD, like he was before all of this!!! He is to the point now that he is wearing a helmet because he becomes unconscious so much and has had such nasty falls that he has brain matter floating. I pray for miracles daily and will definitely add your little one to my list!! I know God hears us!!!
I’m so sorry Leslie! That is just awful and must be so scary for your dad and your entire family. I pray that they are able to figure out what is going on, and I pray for protection over your dad.
Zephan and your family are in my prayers, Beth! xo
My heart is with Zephan. I hope they’ll soon find cure for this terrible disease, so that Zephan can be cured once and for all. Meanwhile keep fighting and we’ll pray for you!
My heart goes out to you and your family. May the good Lord wrap his arms around your son and make him better. Shall keep you all in my prayers.
Deirdre
Beth, I have been friends with Matt since, well before I can remember. I had been wondering why Zephan has been in a wheelchair in so many pictures, and have prayed for you all several times, not knowing what the circumstances were. So thank you so much for sharing so I can pray for you all more specifically. I will also share this with my extended family. So please know the “Rowdens” will be praying for you.
Thoughts and prayers to you and Zephan. Hoping you find some answers soon!
Beth, my heart goes to you, Zephan and your entire family! I’ve been going thru a similar situation and I I know how difficult it all is! When my son was 4yo he was diagnosed with a rare disease, Alports, that’s a kidney disease, it came out of the blue because neither my family or my husband’s family had dealt with these disease or any kidney disease. The doctor told me that by the time my son reach 12 he would probably be deaf and would probably need a kidney transplant around his twenties. they were devastating news for the whole family to say the least.
I’ve been taking him for check ups every three months since then. Two years after he was first diagnosed we did genetic testing and it came out negative for Alports. He is almost 13 years old now, his hearing is normal he’s been in medicines to treat the proteinuria, we still don’t know what his condition is! We have taking him to numerous doctors to check him for everything, it all comes out normal, except that his urine comes with proteins and blood. However, somehow throughout the years, the severity of his first diagnosis has changed. I took him to his regular tests two months ago and it all came out normal. No protein or blood in his urine, I couldn’t believe it! His next appointment is in a month and I’m hoping for it to come clear again, I would call it a miracle!
You’re doing what a good advocate has to do, you are fighting for your child, doing research, trying everything you can to find answers, keep on doing that and have faith, miracles do happen!
Hugs,
Cristina
Cristina that is so encouraging to hear! Thank you for sharing your story. My heart is both prepared for the worst and hoping for a miracle at the same time. It’s a difficult place to be. I’m so pleased that your boy is okay and praying for a clear test for him next month!
Beth, you are an amazing momma! Ditto to all the sentiments above.
oy. you sure have your hands full, this has to be so hard and frustrating on many levels. i am going to believe that you will be in good hands at chop, and i think cancun sounds like just what you guys need. i am glad that you shared this with us and hopefully even getting it all down on “paper” will help you make more sense of it. please keep us posted on his treatments.
good luck to you all.
b
I can’t even imagine what you must be going through. Despite this being a difficult situation for your family, you are an inspiration to others by sharing your story. It’s gotta be tough not knowing what the cause of the issue even is to begin, but hopefully this will bring attention to this rare disease and help others along the way. Sending prayers and good vibes your way!
Dear Beth, Thanks for sharing! I will pray! I was so blessed by your honesty! As a nurse & an adoptive mom to a special needs child, I want you to know that you are absolutely your child’s best advocate! Keep pushing & praying! Try calling pharmaceutical companies if his meds are too expensive — they often give “freebies.” Good job on switching docs. Keep yelling until someone listens! 🙂 I also want to recommend Dr. Morton’s office in Lancaster Co. He works primarily with genetic disorders & research. I don’t know if he would have more ideas for you, but you can keep his name as a future “option” just in case. 😉 I know it is nice to feel like you have options. God bless, Crystal
Thanks so much Crystal! Options and recommendations are always welcomed!
I am so sorry that your family is going through this. I have two children with developmental delays and I know how difficult doctors visits can be. I live in PA and both of my children qualify for medical assistance. It is based on medical needs and not on income. Their medical assistance acts as a secondary insurance and pays for everything that our insurance doesn’t. They even paid for genetic testing. Please consider checking with a social worker at the hospital to see if you can qualify. It sounds like you might with his test results.
I just started the application process for this yesterday and am hopeful that we will qualify. Fingers crossed!
I’m so sorry your family is going through this. Zephan seems like such a sweet boy. I pray that you guys will get some answers and he will get some healing!
Sending prayers your way!
I’m praying for you. Seeing your child in pain and not knowing the future can be terrifying, but I love how you are embracing the ‘now’ and living in the moment! Have a wonderful time in Cancun, that’s going to be some great therapy for all of you.
I don’t know if St. Jude Children’s Research Hospital in Memphis treats what your son has. My son has leukemia and we are being treated there (since Jan 2014). I can’t say enough about how great they are. They do bill our insurance, but what our insurance doesn’t cover they don’t charge us! They do genetic testing there. I am really praying that St. Jude does treat it! They have the best doctors and everyone truly cares for the patient.
As a side note, did you know Kid President has OI?
Praying for your son!
Someone else suggested Shriner’s hospital which also helps with payment, so I’m looking into that. And yes, Zephan is a huge Kid President fan. 🙂
Prayers going out to you, your doctors and the medical community that they can find and help your son get the healing he needs.
Zeph is very luck to have wonderful parents. It is going to be a long and crazy road ahead. As s parent of a child with an auto-immune disease it is hard to see your child go through rough times. Focus on what needs to be addressed with his health and find happiness and joy in the small beautiful gifts from God. Those small gifts will bring you all smiles and keep you going during the crazy times.
Thank you so much for your sweet words! And yes, we know the path before us is going to be a long one and we’re trying to take it one day at a time. I’m a planner and a very future-oriented kind of girl so this is a test in patience and faith for me.
Praying for Zephan, for the doctors, for you, Matt, Asher…..for God’s wisdom and understanding for the doctors involved in his case (considering He already knows exactly what is going on with Zephan, what his diagnosis is, and what the proper treatment for it is!). Praying peace in the midst of this crazy storm and that you would experience the radical love of our Lord as well as the love of your family and friends in a tangible way. Love you and praying!!! xoxo
Thank you sweet friend! Love you!
I know this….you made a great decision going to CHOP…fantastic Dr’s there!! I pray you will find answers and that he will soon be on a road to recovery. Prayers to your whole family Beth:)
Beth, thank you for sharing so honestly from your heart. We will pray for you and your family and Zephan for sure! Liz
Praying for you and your family. I hope you have answers and a treatment plan soon.
I love you and I won’t rest until Zephan gets the tests he needs.
I totally understand your frustrations with the entire medical field. Not only is it the insurance issues but also the care. My dad probably has a week of life left in him because of cancer. He was still in his waiting period for insurance through his employer and no doctor would proceed with chemo and radiation without insurance. Didn’t matter that he’s an American citizen who pays his taxes and has always worked. That’s why he’s dying. Not to mention even finding the right kind of doctor to even determine the diagnosis instead of guessing. I wish your family answers and help through this hard time and am sending all of the positive vibes I can muster.
I’m so sorry to hear about your dad Rosy. That is just horrible. I’ve often thought to myself during this process what in the world would we do if this was cancer. It’s taken so long and so much fighting (I really didn’t even get into the half of it in my post) to get the help we have so far. It’s very disheartening and my heart goes out to you and your family. I lost my dad 5 years ago to melanoma skin cancer so I know the pain involved in losing a daddy. Blessings friend.
Thank you, Beth. My dad passed away on Thursday (6/4/15). He is no longer suffering and in a better place. I’m so sorry to hear about your dad and I hope with all of my heart that you get some answers for your son. My thoughts are with you and your family.
Oh girl, I am so sorry you’re son is going through this and for you too momma! You guys are definitely in my prayers, I will be praying hardcore that God brings answers, healing, and assurance to you guys as you deal with medical decisions – finances – comforting him and everything else this journey brings. What a sweet guy you have, every picture he’s smiling and so sweet.
Thank you so much Rebecca!
beth, i have been following your posts on fb zephanand each time my heart feels for you and the unknown, unanswered and uncertainty with his condition. he looks like a strong kid with such a big heart who along with you, your hubby and the love , support and prayer from friends and strangers will see you through this and healing for Zephan.
Prayers for your sweet boy and your sweet family! It takes a village!
It does indeed! Thank you Melanie!
We serve a mighty God who works miracles. I will be praying for your precious boy and for your family!
beth!
I am so glad you posted this. I can relate to some of what you’re going thru as we have gone thru a lot if testing, etc. including genetics, with vivian.
also we live 10 minutes from CHOP! we would love to see you, for 5 minutes, 5 hours or overnight!
I love you,
s.
Speaking as someone who was a research coordinator in pediatric medical genetics at an academic university research institution/children’s hospital for years prior to having my kiddos, genetic medical research might be a good avenue for you to explore if you haven’t yet. CHOP does lots of research, we collaborated with them quite often, but if they don’t have any genetic research work being done for anything similar to what your kiddo has going on, it doesn’t mean that other academic research institutions don’t have a study they could enroll him in and get whole genome sequencing done on him to figure out what actually is going on genetics wise. You generally would have to have tests rerun in a clinical capacity to be able to use them to treat him medically, but they could tell you (after genetic sequencing in a research setting) whether they found anything and what tests to have rerun clinically to treat him, which could be massively less expensive for you. Even if you can’t find a study geared toward his symptoms anywhere, a lot of academic research geneticists will still be able to do testing on unknown and previously unseen conditions like this under a really broad umbrella study that lets them basically collect and test anything that catches their interest and could be genetic in origin. Very often we collected samples for whole genome sequencing on families like yours through the mail and did testing remotely, or in some cases a study or the institution would pay to have a family fly out if it was important enough to them. Ask the CHOP geneticists if they know of any studies at other institutions or if they have any other research connections that could get whole genome sequencing done on him for free (and potentially the rest of you as well). If you can get/find a geneticist interested enough in your case, doors will be opened to you.
Thank you so much Megan! I am praying something like this might work out for us. We have a friend who works as a geneticist and we have reached out to see if we might possibly qualify for his team’s study.
What about Elhers-danios syndrome? Is he hyper mobile in his joints by chance? I’m sending lots of prayers for you & your sweet stuff!
Thank you Micah! Zeph isn’t hyper mobile in his joints but whatever he has isn’t falling into a classic textbook case so I’m not sure if this was ruled out. However, h doesn’t fit the criteria for the skin issues involved with EDS either. Thank you for your thoughts and prayers!
Beth – what a BEAUTIFUL and BRAVE thing to share your family’s journey with the world. Personally it makes me love you all even more. I will surely pray along with you and I have faith that that your bravery will return to you the love, support, encouragement, and answers you seek. Please let us know if there is anything more we can do to help. We are just outside Philly if you need a place to stay and we have a zoo membership if you need a nice afternoon activity. <3
My heart breaks for your family. I truly hope that your little boy gets to hike the Rocky Mountains!! It may not be soon but he has plenty of time. Your son has such a great medical advocate in you…please take pride in that. My thoughts are with your family that you find out exactly what is causing the problems.
Oh Beth sending many prayers. There was a time when our Oldest was sick and they had no idea what was wrong with him. It had gotten so bad that he would scream just sitting up because his back would prickle and feel like knives were stabbing him. The only thing we could ever figure is that he was allergic to Ibuprofen. We stopped giving it to him immediately and though every now an then he still complains of tingling in his back he is back to normal. My reason for sharing is because I know how it felt to have a baby in pain and feel totally helpless and want nothing more than to make him better. My heart goes out to you and your family and your courageous little boy! May God send answers and make him well.
I can hear the hope in your voice as I am reading this, Beth. You all will be in our prayers every day. Miracles happen! xoxoxo
I am so heartbroken for you and Zephan both. I am so sorry this is happening. I am definitely praying every day for answers, help, and miracles for you guys. I love you!
I pray for him and the whole family everyday! Prayers for answers so he can be pain free.
XO
Kristin
So sorry to hear what your son – and whole family is going through. Sending prayers and positive thoughts!
Take care, Shelley
I am so sorry you are going through this, all of you. I am so glad to have had the opportunity to help just a little, and will continue to “pray without ceasing” for you and Zephan.
Praying for you, your family, the Dr’s and your sweet boy. How trying for you dealing with insurance and a difficult diagnosis. Keep fighting for his care and being the great mom you are.
You are a warrior mom and Zephan is a lucky, lucky boy to have a momma like you. Because you know something is wrong and because you won’t quit until you find the answers…you WILL find them. I’m sorry this is happening but there is a reason for everything and what I see is that Zephan was given to you as a gift because YOU and your husband are the right ones to love him, raise him and make his life the best life he can have. Because you were chosen, you will be given the gift of answers. I just know it deep in my soul and I send love and energy to you and your family. I’ll be keeping you in my thoughts and would love updates! Can’t wait to hear when the answers are found and you see things turn around!! 🙂
I love you. I hate that you’re going through this. Lots and lots of prayers for you all <3