Hi, my name is Rachel. My husband, Scott, and I have been married for almost 10 years and have four beautiful children – Mason (7), Brynn (5), Miles (2), and our little angel Ellie who last month, at 15 months old, returned to heaven. I want to thank Miggy for letting me share a little bit about Ellie’s story today. Ellie was born with an extremely rare chromosome abnormality called trisomy 4p. After struggling with eating and breathing –kind of important functions- for the first two months of her life Ellie ended up with a trach and g-tube. I stopped working as an ICU nurse and spent the next year trying to balance providing around the clock care for Ellie with being the mom of three other healthy and active kids. I never would have been able to do it without the help of my amazing husband and mom. Ellie had global developmental delays and at 15 months old she was the size and development level of a 6 month old. Despite all of her challenges she was the happiest little girl and was always ready to greet everyone with a smile and clapping hands. In August she got sick and was admitted to the hospital with pneumonia, nothing new or out of the ordinary for Ellie, but the day before we were expecting to take her home she unexpectedly passed away during the night. We are left with a huge void since our whole life literally revolved around Ellie. We are grateful for every single memory we have of Ellie and look forward to the day we will be with her again, in heaven. I have shared a lot about Ellie’s story on my blog bubblesforellie.blogspot.com if you would like to know more.
Miggy: Rachel I'm so honored to have you here today and to be talking about your sweet Ellie. A few weeks ago I linked to your blog as your family and friends had set up a fund raiser for the recent passing of your sweet daughter Ellie. I'm so glad you reached out and talk about Ellie and her condition it today's spotlight. Thanks you. First, can you take me back to the day you found out about that Ellie had trisomy 4p? Do you remember how you felt? Can you compare those first thoughts and feelings with how you feel now?
Rachel: I will always remember the pediatrician coming in to examine Ellie after she was born and asking us if she looked like our other kids. I thought he was just making typical newborn small talk until I looked at his concerned face and I realized he was really asking us if we thought she looked normal. He went on to point out all of the abnormal features Ellie had that were consistent with many genetic disorders – low set ears, thick and flat upper lip, high arched palate, thick tongue, short and thick neck, simian crease, and underdeveloped pinkies were a few.
We didn’t receive the exact diagnosis of trisomy 4p until she was 3 months old. After 3 months of unanswered questions about Ellie’s health and development we were so relieved to finally have a diagnosis, but soon found out there were very few answers because of how rare it is (there are only about 100 documented cases in medical literature). We never worked with a single doctor, including our geneticist, who had ever even heard of trisomy 4p let alone knew anything about it. We felt so alone and so scared of what the future would or wouldn’t hold for Ellie. As time went on we learned to live without all of the answers and just let Ellie lead the way.
Initially, I went through a grieving process over the loss of all my hopes and dreams for Ellie’s future. Now as I grieve the loss of my child I am surprised at how similar the emotions I felt a year ago are to what I am currently feeling. Only now it is much harder because she isn’t here in my arm.
Miggy: Please educate us about trisomy 4p. As you stated in your email this is a very rare condition--what are the hallmarks of this condition and is there any treatment? How did Ellie's needs affect your day-to-day life?
Rachel: Trisomy 4p is the same type of chromosomal abnormality as trisomy 21 (Down Syndrome), but the duplication involves the short “p”arm of the 4th chromosome. Trisomy 4p has its own characteristic pattern of features, birth defects, and medical problems but just like in Down Syndrome there is a very wide spectrum of how severely each person is affected. Some of the more common problems include global developmental delay, feeding difficulties sometimes resulting in feeding tubes, difficulty walking with most kids not walking until they are 3-5 years old and requiring assistive devices and braces, speech delays with children ranging from non-verbal or non-conversational to being able to eventually talk like a toddler does, epilepsy (seizures) that can be very difficult to control, small size and stature, many orthopedic issues including severe scoliosis, prone to frequent respiratory illnesses, eye and vision problems, unexplained sleep issues, sensory processing disorders, autism spectrum disorders, and dental issues like extra or missing teeth. These children require full care throughout their lives.
Because Ellie was trach and feeding tube dependent she required specialized care 24 hours a day that me, my husband, and my mom were trained to give. She was always with one of the three of us. Our entire day and life revolved around the cares and therapies she required. We were limited on where we could go and what we could do with Ellie, but we learned how to make the best of what we could do.
Miggy: Although Ellie's condition was rare, her passing was completely unexpected. Is there anything you'd like to share about her passing? Anything you want your friends, family or others to know?
Rachel: Ellie had been in the hospital for a week with pneumonia, but that was not the cause of her death. From the information we currently have (we are still waiting for the autopsy report) it appears that her cause of death was a perforated bowel. We have no idea what caused it. She had been upset for several hours, but her vital signs never changed and she did not show the typical signs of a perforated bowel. I think that was always our greatest challenge with Ellie, her body rarely responded in a typical manner and problems were often undetected or misdiagnosed because of it. She was in a hospital hooked up to monitors and being observed around the clock by medical professionals and yet no one saw this coming until her heart had stopped and it was too late. Until you have had a child with a rare disorder you will never understand how helpless you feel when no one, including you, know how to best help your child.
Miggy: Piggybacking on the previous question how can people best approach respond to your family now you are grieving the loss of Ellie? Is there something you wish other people knew so as to avoid awkward or hurtful situations? What about advice for people who want to do something but don't know what to do?
Rachel: I have always said that I want people to feel comfortable talking to me and asking me questions about Ellie instead of avoiding me for fear of saying or doing something that would offend me. That remains true now that she is gone. I appreciate the people who aren’t afraid to talk openly about Ellie and ask me how I’m doing. I appreciate the people who are okay when I start crying and don’t quickly try to change the subject. I don’t have a list of things people should or shouldn’t say because honestly, it doesn’t matter what they say, I know they have good intent when they say it and that is all that matters to me. The most meaningful thing for me is when people share a specific memory or something that they remember about Ellie.
Miggy: Will you share with us something you love about Ellie--a special story, a personality trait or just something others might not know?
Rachel: While Ellie had pretty significant developmental delays all around, her greatest strength was always her social development. She had a very special connection with everyone around her, especially our family. I will never forget the way she would looked at me and smiled the day after getting her trach and knowing that everything this new path would require would be completely worth it. Nothing brought me greater joy than watching her brothers and sister interact with her. They delighted in making her smile and laugh, and she loved their never-ending attention. She lit up when Dad got home from work and always seemed to be in her most playful moods with him. But at the end of the day she was a mama’s girl. The way she looked and smiled at me left absolutely no doubt that she knew I was her mom and she loved me completely. That connection was the greatest gift I was ever given with Ellie.
Miggy: Many parents joke that we wish our kids came with a handbook. Never does this feel more true than when parenting a child with special needs. Often special needs parenting can be a lonely road, but even then many of us find our support through families who are dealing with similar conditions. You talked about the lonely and scary feeling of parenting a daughter with such a rare condition, what advice would you give to parents on a similar journey whether with trisomy 4p or another super rare condition? What would you say to yourself if you could go back in time?
Rachel: Shortly after Ellie was diagnosed we found a facebook group for families of children with trisomy 4p. This group saved me! Even though we were few in numbers and spread out across the globe, for the first time I wasn’t alone. I don’t think enough can be said about having someone who understands the unique challenges you are facing. My advice to anyone who has a child with special needs is find a support group that works for you. Some of the most meaningful connections I made outside of that group were not even parents of other 4p kids, but moms of a child with a trach or feeding tube that could relate to the lifestyle we had to adapt because of those things. I briefly participated in some other special needs support groups, but for whatever reason the interactions in these groups seemed to weigh me down and stress me out more than they lifted me up. You have to find the right support group that bouys you up and gives you strength. For me that was our 4p group.
Miggy: Lastly, what is the biggest lesson you’ve learned since becoming Ellie's mom?
Rachel: Ellie taught me what was really important in life. Our family had to give up a lot of things we previously enjoyed in order to care for Ellie and we were happy to do it. Now that Ellie is gone and now the opportunity for those things are back, I realize how insignificant it all is. Our relationships with our family and others around us are all that really matter. While my heart feels like there is a gaping hole that will never be filled, Ellie taught me to make the most of every day I have been given, so I am doing my best to move forward and enjoy every minute I have with my young family.
Rachel, thank you so much for that sweet and tender spotlight. Ellie's smile and that little sparkle in her eyes are priceless. Speaking of priceless, as I read your words, particularly your last paragraph I can't help but think about what a priceless gift your Ellie gave you in seeing things as they really are--seeing what is most important, valuable and worthy of our time, which is of course people. That answer should always be people--our family and loved ones--but it's not always easy to remember. Thanks for the reminder. Your love and dedication to Ellie and your family on the whole is beautiful. Thanks for sharing your story and your Ellie with us today. God bless you and your family.
Thanks for reading these important and beautiful stories you guys. I appreciate the love and support. We have some great spotlights coming up, but please continue to spread the word and email me with more spotlights at thislittlemiggy at gmail dot com. We're closing in on 100 and that feels pretty remarkable to me.
Have a great weekend.