Thank you for taking the time to read Raeann's story and learn of NKH. Our family is quite big and continues to grow. My husband is Christian and my name is Rachel. We have been married 3 1/2 years. Our oldest two are Tristen (10) and Hadley (7) who are Raeann's half brother and sister. We have a 2 1/2 year old son, Ethan (healthy) and Raeann (NKH) who is 10 months old. We are currently expecting baby boy who has been diagnosed with NKH at 15 weeks gestation, and being induced at the end of July. Non Ketotic Hypoglycinemia is a metabolic disorder. Simple terms; Raeann can not break down the amino acid glycine. There is no cure, treatment is limited, prognosis is terminal. The excess glycine in the body will deteriorate the body and brain over time. Main medications include; Dextromethoraphan (Delsym); this protects the brain from glycine damage and Sodium Benzoate which binds to the excess glycine so she can pee it out of her system. There are also other medications that she is on for Seizures (Phenobarbital and Keppra), Miralax, Prilosec. We have used in the past Reglan (gastric emptying), Prevacid (not strong enough). Feel free to keep up with Raeann on her facebook page here.
Miggy: Hi Rachel. So thankful to be spotlighting you and your sweet baby Raeann. Rachel, in your email to me you told me about the roller coaster ride of giving birth to a seemingly healthy baby girl only to have a very drastic turn of events shortly thereafter. Will you please recount for my readers your experience leading up to your daughter’s diagnosis? As you've had 9 months to process these events, can you tell us a little about how you felt then compared to how you feel now?
Rachel: After giving birth to Raeann, my husband and I were so happy. We got our little girl. It seemed like something was off though right away. She was making weird jerks and twisting. We would learn later that moments after she was born she began having seizures. Her Apgar score was a 9 with in 10 minutes of birth. Throughout the first 24 hours, we relaxed and had family visit. Her brothers and sister were able to meet her, although she was very sleepy throughout the day and she didn't really eat much. She was still having the normal wet diapers though and the meconium that needed to come out. She was transferred to the Children's hospital approximately 36 hours after birth. I was released from the hospital so we would both travel to the Children's hospital. She has been on phenobarbital since 24 hours old. Since she was taken to the Children's hospital on a Friday, there weren't many tests ran right away. They did draw a lot of blood, and she had a spinal tap done. On Sunday, Raeann was placed on the ventilator. On Monday, she was placed on heart medication. Raeann began to have difficulty breathing, it is thought because of the seizure medications that she was on. On Monday, her heart function decreased to 34% which is why the heart medication came into play. As much as I wanted to stay at the hospital with her 24/7 I did not. I was there everyday from approximately 9 am to 5 pm. This was so I could be there during rounds, understand what tests came back, what medication adjustments happened, and all around let Raeann know that she was not alone. My husband had to work, so he was able to come on weekends and occasionally during the week. My parents were there taking turns at night so she wouldn't go long periods of time alone. Throughout the week Raeann seemed to be doing better, she was starting to adjust to the seizure medications. On Friday, September 19 we had a care conference. I have learned that these are typically not good, and the diagnosis confirmed it. NonKetotic Hypoglycinemia; aka NKH; aka Glycine Encephalopathy. The direct approach in how we were told was appreciated. We do not like having things sugarcoated. My husband and I both carry one and each pregnancy has a 1 in 4 chance of having a child with NKH. Due to her presentation, we were told that she would be severe. Most children that present severe pass at birth. If Raeann were to make it, we were told it would be like having a doll. She would never know who we are, where she is at, she would never eat from a bottle etc. It was devastating. I requested they run the glycine blood test again. It was when she was 11 days old we decided that we would take her off of the ventilator. At that time, she was not breathing over the ventilator. On September 29, 2013 we took her off the ventilator approximately 1:30pm, and we did not expect her to live more than 2 hours. The emotions of that day will live with my husband and I forever. We had said our goodbyes, took her outside (she had been in a hospital her entire life) and prepared for the worst. 2 hours went by and we were at a loss of what to do.
I don't think much has changed between then and now. The biggest difference now is she is home and not in a hospital. We have been very fortunate not to be spending days, weeks, months in the hospital like some kids with NKH do. Hopefully she continues to be strong.
Miggy: Your daughter was given hours to live and 9 months later is still alive. As you told me in your email most kids don't last the first few days of life with this diagnosis. I'm not sure I know how to word this, but how do you explain this unexpected scenario? Does this feel like a miracle? A gift? Were the doctors wrong? I would love to hear any and all thoughts you have about this.
Rachel: When we first told of the diagnosis, the doctor even told us to Google it. If you do Google it, it is pretty devastating. Our entire family was taken aback by the diagnosis. This is one thing that can't be diagnosed until it happens and after the birth happens. It is definitely a miracle that Raeann is still here and she is still fighting. She is much different than what the doctors said she would be. She is not a vegetable for starters. She definitely knows my husband and I's voice. She currently is in occupational and physical therapy. Once we took her home on October 8th, we have pushed to make sure that she is getting everything she needs. On October 26th she was back to bottle feeding :). We had the suck/swallow study done, but the speech therapist was hesitant. Raeann ripped the NG (nasal gastric) tube out of her nose three times that week so I pretty much put her on the bottle full time. She currently has the Gtube, but that is typically used for times of sickness or seizures. I would say the doctors were wrong to an extent with her diagnosis. They had the correct disorder, but because nobody's DNA is alike it is hard to predict who is mild and who is severe. I kept asking questions regarding more mild children, and it may be they just haven't seen a mild case of NKH. I do not believe Raeann is mild case, but maybe a more moderate case. She is doing some things at a 3-4 month stage and she will be 10 months old in about week. Our biggest fight is not just letting the doctors blame everything on NKH. There are many things that could be normal baby things. Our biggest issue today is her weight and her belly. Being a full term baby she has only gained 3lbs since birth. It is a constant battle to try and make sure the doctors look at her and not just her disorder.
Miggy: Now you've also stated that the long-term prognosis is that Raeann is terminal. Like most parents I can't even imagine what that news must have felt like and continues to feel like. Can you share with us what this is like and how you manage to cope with this reality?
Rachel: Most of the time I try not to focus on the prognosis. She is doing the best she can to hang in there, so while she is doing that our goal is to make sure she is as happy as she can be for as long as she is here. Even with a healthy child every day is not a guarantee, when you listen to the news a person can hear about it. I think the hardest thing about all of it is watching your child miss milestones that other babies are hitting. Though that is part of the special part as well, Raeann was never supposed to hit milestones, and while she may be behind developmentally when she fights through everything she is going through and hits a milestone it shows everyone how special she is. Sometimes it's hard because I try to buy clothes on clearance or really good deals and may shop a season or two ahead, but I tend to wait for Raeann because we just don't know. That is the hardest thing, is the uncertainty. In a sense, we already said goodbye to her that day she was on the ventilator, but now she just continues to fight through so much.
Miggy: Can you explain how Raeann's specific special need affects your day-to-day life?
Rachel: Raeann is a 24/7 baby. She is still practically a newborn. We are still trying to work through some belly issues, and have seen a gastroenterologist. She can scream up to 12 hours a day. My husband and I are constantly with her. Only one of us can work, the other takes care of her and our other kids. There are constant doctor appointments that we go to each month. We adjust Raeann's diet periodically and medications. The Sodium Benzoate that she has to take though pretty much tears up her stomach lining. So there is belly pain there; but we put her own Prilosec and lowered her dose to help her and she seems to be doing great with it. The one thing we have learned is that the doctor recommendations on the dosages are really recommendations. We have learned that it is ok to adjust medications according to how Raeann reacts. Though we are careful and we always adjust the medications lower than what the doctor recommends. We feel that she is already taking so much medication if she does well with as little as possible the better. While we deal with the intricacies of Raeann, we also have our other children to look after. It is very hard to get them involved in things. It is hard hauling four healthy kids around, but with Raeann's sensitivity it tends to be more of a two adult job than a one adult job. Fortunately, my husband and I work well together and we get things done in a semi-productive way.
Miggy: How can people best approach or respond to your family and the difficult situation you find yourselves in? Is there something you wish other people knew so that they could respond in a more helpful and loving manner?
Rachel: While we have a child with special needs, we are still the same people as before. Yes our schedules may be completely different, but we still need a sense of normalcy. Asking how Raeann is doing is not going to send us into a depressive state. I really love talking about her and what she is doing. Life dealt us a hand that we were not expecting, but that is a part of life. A text message, phone call, or private message on Facebook to say hey I was thinking about you does go a long way.
Miggy: I know from firsthand experience what a special role siblings can play in your special needs journey. Is there anything you’d like to share about your other children and their relationship to your daughter?
Rachel: Her older siblings Tristen and Hadley, as she has gotten bigger, always come up and say hi and wave. They always make a point to say Good Morning and Good Night to her. Tristen (the oldest of the 4) would come home from school and ask how Raeann is doing. He seemed to be interested in knowing if the seizures had been gone or not. Ethan is just now getting to the phase where he wants to help. Holding the bottle during feeding time, when we put her on the floor he gets her toys and "shows" them to her to help with tracking. He always gets the baby diapers and wipes and throws them away after the change. All three care about her, and want to see her do well. They get happy every time she makes a milestone :)
Miggy: What is the biggest lesson you’ve learned since becoming Raeann's mom?
Rachel: I think everything that I have learned has been the biggest lesson. When the diagnosis came out, I definitely learned who I could trust and who I couldn't. Who was superficial and who was genuine. As time has gone on, learned on those who we could rely on and those we couldn't. We have learned so much about the medical community that we wish we didn't have to know. We also learned that we are not alone. Whether it's those who we can trust and rely on or those whose kids have the same condition. There is help out there.
Thank you so much Rachel for sharing your sweet Raeann with us today. As I read your words I felt a heaviness in my heart, yet a strength through your words. I'm so glad you and your husband have each other and work well together--what a blessing. Once again, I'm glad to hear a mama talk about listening to her gut. Obviously you listen to and trust the Dr's as well, but you know it's OK to do things a little differently because at the end of the day you're in charge of Raeann. And she's lucky to have you. Thanks again Rachel and much love to you and your family.
As always if you or someone you know would like to participate in the Special Needs Spotlight please email me or have them email me directly at thislittlemiggy at gmail dot com.
Have a great weekend.