It's been a long time since I have shared anything on our blog...since September 16, 2016 to be exact. Time flies when you're having fun I guess. If you can call parenting a toddler fun, not to mention a toddler with medical needs😉 Let do a little recap of our journey and then I will catch you all up to speed on our current happenings.
I started blogging in January 2014, at the start of our first fertility cycle to express my emotions and in hopes of helping other women not feel so alone. My husband and I met in 2006. We lost a daughter to stillbirth at 24 weeks on March 1st, 2008. I had an early miscarriage the following year in September. We fostered a 16 year old with Reactive Attachment Disorder in 2011. 2012 was super adventurous between being diagnosed with a rare genetic disorder, Homocystinuria (a 1 in 400,000 disease), having five emergency eye surgeries, graduating with my masters degree, getting married, and conceiving another baby. On Martin Luther King Day in 2013, at 11 weeks our baby no longer had a beating heart and the following week I had a D&C. Fast forward 9 more months and we had another miscarriage, a blighted ovum.
Through all of our losses we were told a variety of different causes. Our daughter was born with her cord wrapped around her neck so her death was considered to be cord strangulation. The first miscarriage...well these things just happen. Once I was diagnosed with Homocystinuria we were told I was at high risk of blood clots during pregnancy which leads to miscarriages and stillbirths. This seemed like a better explanation to us...something we could treat at least. So when we fell pregnant at the end of 2012 I started Lovenox injections immediately to try to prevent blood clots and more heartbreak. Unfortunately, until March 2013, we did not know that two of my chromosomes are fused together which will result in a 25% chance of having a child with Down Syndrome and a 25% chance of having a child with Trisomy 13. Both of these medical issues can be fatal during pregnancy or after birth. Our last two miscarriages both had Down Syndrome.
The most logical plan of action at that point was "treat" the things we knew were "wrong" with me. Blood thinners for pregnancy-check. But the chromosome issue? That's when we invested in in-vitro fertilization with pre-implantation genetic screening. I hated the idea of "choosing" a baby based on rather or not they were healthy. I always thought that saying when people ask you what do you hope you are having when your pregnant-"it doesn't matter as long as it's healthy"- is kinda a crock of crap. I believe as a parent you love what you are given. Boy, girl, extra/missing fingers and toes, chromosome or genetic conditions that cause various organ problems....I am pretty sure that when it is your own child you can't help but to love them. Of course nobody wishes or hopes for a medically fragile child. And in our case it felt as if we being selfish by trying to have a baby that we knew for a fact would likely either die during my pregnancy or would have severe medical problems. It didn't make sense for us to keep putting ourselves through heart ache or to bring a child into the world that would have to fight for its life.
God, of course, doesn't always have the same plan that you do. Sometimes that is a hard thing to accept. Our first IVF cycle failed. We had 12 eggs collected during my non-medicated extremely painful egg retrieval, only 7 of those were mature enough to fertilize, and only four continued to grow long enough to biopsy and test for chromosome abnormalities. Among those four, we had three with confirmed chromosome issues-only one of which was related to my fused chromosomes. The fourth embryo had an unconfirmed result so we blindly decided to give it some faith and prayed for the best. After our negative pregnancy test we were left with $20,000 deeper in debt and questioning what was next for us.
After a long and bumpy ride we ended up pregnant from my sister's donor eggs 9 months later. We took every precaution under the sun to ensure our baby would be "healthy" and our pregnancy would last another 9 months. Lovenox injections daily to thin my blood. Progesterone shots daily for the first several weeks to keep my level up. Metformin daily for my insulin resistance. Synthroid daily for my slightly elevated thyroid hormone. Aspirin daily for extra blood thinning. Intralipid infusions every 2 weeks for 14 weeks to treat any potential auto-immune problems. And a whole slew of vitamins specific for my Homocystinuria.
I was the happiest I had ever been. I was pregnant with our Rainbow Baby. I was anxious, yes. But I really enjoyed every moment of being pregnant and was obsessed with hearing "Baby M's" heart beat and watching him grow. Despite the risk of growth restriction due to having a Velementous Cord Insertion in the placenta, which occurs in only 1% of pregnancies of course, our son was born a near 8 lbs on August 8th, 2015. "Baby M" was named Eli Francis Monnier and was immediately wisked away to the NICU due to having "a problem with his skin."
Recessive Dystrophic Epidermolysis Bullosa. RDEB for short. It is a rare, incurable, progressive condition that affects the largest organ of the body, the organ that protects the rest of the body from bacteria, regulates the body's temperature and moisture levels, and contains receptors for recognizing pain. It is caused by two mutations in the Collagen VII gene and results in body being unable to produce the protein that "glues" the layers of skin together. Any slight trauma or friction can tear the skin off or shift it enough that a large blister forms. This protein is also vital to the mucosal tissues which are found in the eyes, nose, mouth, esophagus, trachea, lungs, stomach, intestines, ureter, urethra, and bladder. Life expectancy with RDEB is around 25 years or less. Cause of death is typically infection, skin cancer, or heart failure.
I have questions that verse so many times. I would be lying if I said I haven't. But I have say two and a half years later that God has given us a child who is brilliant, funny, loving, strong-willed, and puts a smile on our faces all the time.
It has not been an easy life so far, and I know our future will have it's own hurdles to jump. We have treated bacteria infected wounds every day, have held our son while screaming in excruciating pain from bowel movements that rip apart his rectum despite his stool being soft, have applied antibiotic cream to our son's eyes from multiple corneal abrasions, and have held handfuls of blood from blisters rupturing in our son's esophagus. We have gone to work more days than I can count with only two hours of sporadic sleep. We have battled feeding issues and have had to learn how to care for a gtube. We have purchased around 100 different creams/gels/lotions hoping one of them will be the miracle that heal a wound overnight. And we administer around 10 medications a day to keep our son as healthy as we can and treat his pain.
Every day we pray for a cure. We pray for hope. We pray for guidance.
That prayer has led us to our next journey. Eli has been approved for a bone marrow transplant at the University of Minnesota. It isn't a cure. But it is the only systemic treatment option for severe cases of Epidermolysis Bullosa. Eli is considered to have severe generalized EB, meaning both of his gene mutations have been seen in other "severe" cases and his condition will only progressively get worse to the point where he will have no areas that have been untouched by blisters. His fingers and toes will fuse together in the future. His toes are already fusing due to the recurrent blistering and scaring that has occurred so far in his short life. Internal issues will also progressively worsen as we have already seen over the past 8 months. As a systemic treatment, the goal of the bone marrow transplant is to help Eli's body create enough Collegen VII that the condition will not be AS SEVERE. It could help him produce enough of the protein that he should not blister as often or as large and should heal faster. It should give his skin enough strength that it shouldn't rip off or blister with every minor fall or accident (example-a ball hit his chin the other week when tossing it back and forth with me and it tore the skin off instantly). With these potential benefits come very scary potential risks which includes death related to infection and organ failure due to killing off his own bone marrow (immune system) so he can accept someone else's.
That "someone else's" is his father's. Eli's dad will be his bone marrow donor. After discussing it with the doctors and geneticist in Minnesota this was the most logical choice. The current protocol for transplant is to use a half-matched related donor, which is a sibling or parent. Eli has no siblings and I am technically his aunt....plus my own genetics are terrible so even if I were his biological mother I would not be able to be his donor. That leaves my husband and my sister. Both are in general good health and have no crazy medical issues. However, this is a time consuming process and my sister has her own child to take care of and life responsibilities including a demanding work schedule. Part of the protocol, using a related donor, allows for cell boosts up to five times post transplant which has been proving to be more successful than previous protocols where full matched non-related or 8/10 related matches were used but no additional cell boosts were given.
Despite the scary negative side effects that can occur, there is a lot that gives us hope. This past year they started testing for antibodies against the donor. This gives them an idea of how likely the patient is to reject the transplant or develop graft vs host disease. With this new knowledge, they now know that if a patient has antibodies against their donor they either need to select a different donor or get rid of the antibodies. Eli DOES have antibodies against his dad. They are a low enough level that the doctors are comfortable still using his dad as his donor but we will retest them the week before we go to MN to see if we need to get rid of the antibodies as his level can fluctuate. Another thing that gives us hope is that even older children who have had more years of "damage" from EB are having successful transplants over this past year. Eli is overall in good health and his labs are always excellent which makes us believe his body will be able to withstand the difficulties of the transplant process. He has a strong personality also and is a little fighter.
So in this new year I will be preparing to "move" to Minnesota from March-August (potentially longer) to be with Eli while he receives his transplant. We will continue to share our journey on my personal facebook page and our family page which has been renamed from Alex and Lindsay's Baby Quest to "Rainbow Baby; Butterfly Boy" and can be found at www.facebook.com/rainbowbabybutterflyboy . Our new page name is more fitting to our current journey as we are 100% focused on Eli and 0% focused on extending our family at this time. If you aren't a follower on our page yet, join us for our 2018 Journey through Transplant and become another prayer warrior and supporter in Eli's Fight Against Epidermolysis Bullosa!
That "someone else's" is his father's. Eli's dad will be his bone marrow donor. After discussing it with the doctors and geneticist in Minnesota this was the most logical choice. The current protocol for transplant is to use a half-matched related donor, which is a sibling or parent. Eli has no siblings and I am technically his aunt....plus my own genetics are terrible so even if I were his biological mother I would not be able to be his donor. That leaves my husband and my sister. Both are in general good health and have no crazy medical issues. However, this is a time consuming process and my sister has her own child to take care of and life responsibilities including a demanding work schedule. Part of the protocol, using a related donor, allows for cell boosts up to five times post transplant which has been proving to be more successful than previous protocols where full matched non-related or 8/10 related matches were used but no additional cell boosts were given.
Despite the scary negative side effects that can occur, there is a lot that gives us hope. This past year they started testing for antibodies against the donor. This gives them an idea of how likely the patient is to reject the transplant or develop graft vs host disease. With this new knowledge, they now know that if a patient has antibodies against their donor they either need to select a different donor or get rid of the antibodies. Eli DOES have antibodies against his dad. They are a low enough level that the doctors are comfortable still using his dad as his donor but we will retest them the week before we go to MN to see if we need to get rid of the antibodies as his level can fluctuate. Another thing that gives us hope is that even older children who have had more years of "damage" from EB are having successful transplants over this past year. Eli is overall in good health and his labs are always excellent which makes us believe his body will be able to withstand the difficulties of the transplant process. He has a strong personality also and is a little fighter.
So in this new year I will be preparing to "move" to Minnesota from March-August (potentially longer) to be with Eli while he receives his transplant. We will continue to share our journey on my personal facebook page and our family page which has been renamed from Alex and Lindsay's Baby Quest to "Rainbow Baby; Butterfly Boy" and can be found at www.facebook.com/rainbowbabybutterflyboy . Our new page name is more fitting to our current journey as we are 100% focused on Eli and 0% focused on extending our family at this time. If you aren't a follower on our page yet, join us for our 2018 Journey through Transplant and become another prayer warrior and supporter in Eli's Fight Against Epidermolysis Bullosa!
