GA2 Family Stories

Austen's Story

I share the same story with many of you. The normal pregnancy, the c -section birth, the sight of that  precious, little face and the feeling that finally, all was right with the world. And then the shock.

My previous pregnancy, eight years back, was difficult. I had conceived triplets through the en-vitro process, after trying for years to get pregnant.  I lost a baby after my first attempt so I was off my feet for this whole pregnancy and hospitalized four weeks before their birth at thirty weeks. Although they were preemies and had to stay in the NICU for five weeks before coming home, they had few problems once they were home and were all good nursers after they got the sucking reflex which happens at about thirty two weeks of age. I nursed all three of them for the first six months and when they went onto solids my kids were great eaters!

I was surprised that Austen had no interest in breast feeding and although the nurses said it was not an uncommon thing for a baby not to eat for the first few days, I remember being very concerned about his crying. He wailed like only a hungry baby could. When he was taken from my room so I could get some rest, I could hear his cries in the little nursery down the hall, louder than all the others. The second day was like the first, now I was worried. The staff seemed indifferent . He still wouldn’t eat, but he was clearly unhappy. That evening lying next to my bed in his little bassinet, his wailing forced me to get out of my bed to pick him up. The nurses were all busy and because it was a Friday there was lot’s of visitors and noise and rejoicing the birth of all the new babies. Once I got Austen settled in my arms and I was comfortable I tried once again to nurse him. Nothing. His crying turned to a sound that a little kitten would make, the light was low and I held him and tried to soothe my sweet little man. I don’t know if I fell asleep or we both became one again and my breaths were his and finally he was at peace. Suddenly my dream turned into a nightmare. I stroked his head and it was cold. I called his name and he didn’t move. I screamed at the top of my lungs for help and my baby didn’t flinch. I recall screaming forever until the room was full of people and lights and the hallway was silent. Austen was a strange blue color. They took him away and I knew he was dead and I still kept screaming.

Austen was eventually revived. The nurses said he was without oxygen for twenty minutes. I think it was longer because no one came to my room to tell me anything and I was very hoarse from wailing. He was transported by ambulance to New England Medical Center where he was stabilized from the seizures, put under oxygen and once again I had a baby hooked up to wires and tubes, but there was no excitement this time. He had suffered serious brain damage and on the third day of his stay in the NICU, I was asked to sit down with the doctors who had been following him. Dr. A, the metabolic doctor who had been spending a lot of time with him, told me that he had a serious genetic defect. She called it Glutaric Acidemia type II or otherwise known as Multiple Acyl Co-A dehydrogenises Deficiency (MADD). She told me that it was a fatal disease and explained that he could not metabolize fats or proteins. She said that no other child born with this disease had lived for longer than six to eight months. She was patient with me when I cried. She said that she wanted to send a muscle fibroblast to a doctor in Iowa who would confirm the disease. She said that he could be brought home once he was taken off the tube feeding him through his nose and suck on his own. He should be given the best life possible in the next few months. It was best “not to resuscitate” should he stop breathing again, because of all the damage that he had already sustained. He was not to drink breast milk, too much fat and protein, so he needed a special formula. Up to this point, I was in shock and depressed and felt very alone and defeated. But as I spent days with him watching as he came out of his long sleep and when he finally looked up at me and took formula from a bottle, something changed in my attitude. On the day we were told we could go home I became an angry, assertive woman, a person I had never been in my whole life. I demanded an apnea monitor to have at home in case he stopped breathing, I insisted that I would breast feed him and I didn‘t want the formula, (after all if he was to be given the best life in six quick months, shouldn’t he be allowed to breast feed?) He went home and I pumped and he learned how to nurse. I got in touch with the FOD (Fatty Oxidation Disorder) organization and got a home computer (one of my smarter purchases!). Austen got bigger and gained weight and I became more determined not to let the diagnosis defeat us. We got the confirmation from the fibroblast that he had “ 2% of controls…as low as enzymes get”. It was a mitochondrial disease and there was no cure except to continue with the carnitine and B2 supplements that were supposed to sustain him. I read Dr. Andrew Weil’s book, “Spontaneous Healing” and was particularly affected by the chapter that addressed malfunctions in DNA. He says that it can be reversed through diet especially by ingesting natural enzymes. I changed my diet radically after going to see a naturopathic doctor who put me on a meat-free, dairy-free diet which included mostly raw fruits and vegetables (both Austen and myself still follow this diet). I didn’t stop there, I sought out a Native American shaman, a Catholic priest who was a faith healer, a chiropractor…and a second opinion from another metabolic doctor.

From the first time I met  Dr. K , I knew that we would be in good hands. He believed in treating Austen the individual, not the disease. His approach was much more hopeful and that is what I needed to keep going, especially since I was a single parent at this point. He marveled at his weight gain and cognitive abilities, although he was delayed, he seemed to be progressing. The one concern was that his head circumfrence had come to a halt. Dr. K prescribed CoQ10 and in the next few months after starting it, his little head started growing again, although he is still considered to be microcephallic. When we started with solid foods each meal was traumatic, because he would throw it up from reflux. I had to clean up the mess and start all over again, because I knew if he didn‘t eat we would end up in the ER. He came to recognize that he had no choice in this food business, he had to keep it down! I weaned him very gradually off of the barbiturates that he had to take for seizures and he has never had another one that I know of. Early on I recognized that Austen had a severe visual impairment and hooking up with Perkins School for the Blind got us involved with the infant toddler program, preschool, the ‘Lower School’ and this June will graduate to the ‘Secondary Program’. Social skills, PT, OT, sensory integration, mobility, music therapy, gym, arts, swimming and of course academics are only part of the total program. We have a skilled health care clinic on the grounds and we have been very lucky to live so close to the school and be part of this wonderful community.

Today, fourteen plus years after his birth, he is of normal height and weight, a handsome devil who is devoted to his older siblings, Nathan, Sasha and Taylor, and his loving stepfather, Joe. It has not been an easy road. We have had many bumps and starts. He stopped sleeping, (night and day) at about age three. Several trips to the ER after a vomiting bouts, severe sinusitis (now controlled with Periactin), incontinence still to this day, it hasn‘t been easy. He has many food allergies which have been hard to decipher since he can’t really tell us ‘where it hurts’ and displays his discomfort through tantrums or negative behavior, although once we got the wheat, eggs, peanuts, etc. out of his diet we have seen much less confusion and better spirits. The change in diet and  realizing that his behavior was on the autistic spectrum (and getting the diagnosis of asperger’s syndrome), has afforded me with much more knowledge of how to help my son deal with this world that he doesn’t really understand, and help others to understand his world. I feel strongly that the choices I have made for my son have been the right ones, but I could not have done it without the help of all the wonderful people I have met along the way and who now share a part of Austen’s world, and without them,  I might not have made some of  the connections that have made such a big difference in the quality of my son’s life.

Lucas' Story

I want to start by saying that Deb and the FOD Support Group has brought an immense amount of supportto our family. I was led to the group after meeting with our genetic doctors for the first time. So up front, thank you Deb!
My husband, Evan, and I decided in early 2010 that it was time to extend our family. After recently, getting married, buying a house and finding our church home it was time to start a family. We had a bit of trouble getting pregnant and started on Clomed and the very first month was a success! That is just how the women in my family work – our bodies need a ‘jump start’ and then we hit the ground running!

The journey of pregnancy was so much fun for Evan and I. Well, maybe me more than Evan; I might have always wanted the house freezing cold, scrambled eggs and absolutely no corn dogs! I enjoyed every part of the pregnancy. I didn’t experience much morning sickness, was active, all labs and medical items were always right on track and over the holiday season I could eat whatever I wanted in stretchy pants! We attended classes for breastfeeding and natural births; as I wanted to have a natural birth using Hypnobabies techniques. In the spirit of our ‘stubborn’ family, with about three weeks until our due date Lucas, was turned the wrong way. We scheduled an external cephalic version (ECV) and a caesarean section. I had my heart set on a natural birth and that was just not how Lucas wanted to enter the world.

On January 25, 2011, we arrived at the hospital and prepared for the coming procedures. I had two OBGYN’s performing the ECV and caesarean, with our family doctor/pedestrian waiting to grab Lucas once he was out. My OB’s attempted the ECV procedure twice and Lucas simply went back to his original position each time. So, since Lucas didn’t want to come naturally, we went in and got him! He was born at 12:55 p.m., weighing seven pounds and ten ounces and 20 inches long. He was so beautiful and perfect. Following all the perfect evaluations from the doctors, Lucas and I were wheeled from the operating room back to a room to start our new journey with family waiting!

During our hospital stay, Evan, Lucas and I learned the basics of diapers, talked to all the nurses about care and blood draws (Newborn Screening), put our latching and feeding techniques to work, and got to know our perfect son! We had all the emotions, excitement, questions, fear and nerves of all new parents. We signed all the proper paper work and installed the car seat correctly and made our first ‘scary’ five minute car ride home with our son! We had all the normal visitors, started our new routines and began to learn life as the three of us!

Mother Nature was not cooperating because just days after bringing Lucas home, we had an ice storm that sealed us up in our house for about four days. Evan and I were scared we would lose power, but by the grace of God we did not. On day eight, mid-afternoon the phone rang. Lucas and I were feeding and Evan was talking with the Pastor’s wife about the last few days. It was the pediatrician on-call since ours was on a mission trip. She informed me that the newborn screen results were in and a few things were showing abnormal and we needed to call Doctor Hainline at Riley Children’s Hospital to make an appointment tomorrow. I was unable to speak, started crying and handed Lucas to Evan. The on-call doctor was trying her best to comfort me and also give me names and phone numbers and said to call her back after I had spoken to Riley, to ensure we got in.

So with courage and strength that I now know only a parent can have, I pulled myself together and called the hospital to make the appointment. Riley Children’s Hospital is the best around and is not a place you ‘get in tomorrow’ unless something is very wrong.

The first appointment with Hainline’s office was one of the scariest meetings we had ever been in. First, they asked us if we had any questions and I replied “Um yes, why are we here?” In the room was the genetic counselor, the nutritionist, metabolism nurse and Doctor Hainline, the genetic counselor started to tell us what was going on. They wanted to take blood and urine samples to perform a few more tests and said that Lucas has a rare genetic disorder called Glutaric Acidemia Type 2. She told us of the common medications, the common developmental status’, the unknown life expectancy, dietary requirements, the rareness of the disorder and basically scared Evan and I to death as new parents.

Here I was holding my nine day old baby boy, crying my eyes out, thanking God for my miracle, and praying he wouldn’t die in his sleep that night. This meeting was about three hours long. We had questions but mostly it was simply us just listening to what they were saying. At the end of the meeting we set up an appointment to get the lab results, were given a script for Carnitine, an emergency protocol letter, and handed a couple of packets of information to read. Then they showed us where to go to get Lucas’ blood drawn. That Friday afternoon our lives, yet again, changed forever.

We stopped by the pharmacy on our way home in silence, mostly because I could not speak, and wondered what this all meant. Over the next couple of days, I breastfed Lucas every two hours around the clock, started his medicine, watched for all the different signs we were told about, took shifts watching him sleep and wrote down all the questions we had. We informed the pediatrician and she also got in touch with the metabolic team to get a summary of the diagnosis. The two week doctor’s visit with the pediatrician went well, from a newborn baby stand point. Lucas had gained a bit of weight, physically looked well from a newborn baby stand point. Lucas had gained a bit of weight, physically looked well and he was measuring well with a slightly larger head. He looked and seemed to act like any normal newborn baby. No one would have ever known what was happening on the inside.

The lab results finally came in confirming GAII. We were still allowed to give him breast milk, but I started pumping in order to measure his intake. We started a Poly-Vi-Sol Multivitamin with Iron, CoQ 10 and increased the Carnitine dose. We set up an appointment for an echocardiogram and were told to hold off on all immunizations until the next round of blood work. After that he could have them, just not all at once. We arranged the time intervals with the pediatrician.

Evan and I were doing our best to stay strong and figure everything out. We have a wonderful church family that was caring for us, our best friends and family were there every day to help with small tasks around the house, to let us sleep or just to listen to us cry and vent. Prior to the ‘phone call’ I was already struggling with post-partum depression and this situation only intensified that. So we were trying to make our way through that part of the journey as well. In the spirit of having to know everything always, I started researching online. Anything and everything I could find I read. Most of it was extremely fatal and depressing and not at all encouraging. I would call and email the genetic counselor with questions and articles. When I asked her if I was bothering her will all my inquiries, she kindly replied “No, and said to contact her with anything.”

Since then we watched Lucas and tried to learn everything we could about his actions, behaviors, and his temperament, as any parent does to try and discern normal baby/toddler things from symptoms of GA2. At three months of age Lucas came down with RSV and pneumonia, which landed us in the hospital for eight days (five in the NICU). We were on IV fluids, VapoTherm, oxygen, NG tube and steroids. He was in the lower reference range of being acidotic, but thankfully never got there. He did though have a terrible time breathing and his oxygen saturation was dangerously low. We took this opportunity to get the gene sequencing done on all three of us to figure out exactly what the mutations were. These were sent off to Denver for analysis. We did go home on oxygen and a NG tube.

The DNA results came in about three months later with a positive ETFDH mutation, with the ETFA and ETFB genes showing no mutation at all. This mutation is riboflavin (B2) responsive, so 50 mg was immediately started. Side note: B2 is extremely nasty tasting.

Skipping ahead to look back…..

Lucas is 18 month old now and growing and developing beautifully. Around nine months old we enrolled him in a program called First Steps and began to get him PT, OT and nutrition therapy. And this fall we will get him evaluated for speech therapy. He has met all of his milestones in a timely manner, but the help from First Steps gave him the confidence to attain our goals for him with much more ease. Since the first hospitalization with RSV and pneumonia at three months old, we have been admitted five other times through the ER and directly to the NICU for croup, HMV, pneumonia, and an asthma attack.

We have come home twice on oxygen and additional breathing treatments. We have even had “T” tubes placed in his ears right after his first birthday because of the drainage and ear infections. We have had barium swallow tests to check for aspiration, because of all the congestion. The techs only were successful with a handful of swallows, so we might end up repeating this test. We are followed very closely by the Ear, Nose, Throat and Allergy doctor as well. Pulmonary is also following us closely since Lucas has never really been able to completely recover from all the respiratory distress.

Evan and I have been very blessed to have wonderful jobs and fantastic insurance, which has taken a great deal of pressure off our shoulders. I have been lucky to have had so much vacation time and most of all Evan’s job…this past March when Lucas was hospitalized with what we are calling a severe asthma attack. We were scared to send Lucas back to the sitter’s house in fear of another illness. Evan was able to become a stay at home dad and will return to work mid-August. This has allowed us to get Lucas’ health back on track. We are off oxygen, breathing treatments and inhalers now and only a simple nose spray before bed. During this time we concentrated on furthering Lucas’ development and started some baby sign language techniques for communication since he doesn’t use words yet. It’s as if all the ear infections affected his hearing and we lost the first year of sound, but we are trying to catch up since the tubes were placed. This summer has presented some problems with con-trolling his body temperature in the 100 degree heat and humidity, but with ice packs and Gatorade we have keep him regulated with no real scares.

Again, during the last 18 months and the roller coaster of life that we have been on, Lucas has been the happiest child. With oxygen tubes in his nose, IV’s in his head/hands/feet, he always smiles, wants to play and is happy to see everyone. He absolutely loves bath time and to swim. He has no fear of new things and he loves to eat Pop Tarts and bananas.

In writing this letter, I just returned from the 2012 FOD Conference in Portland and had an amazing experience. I was able to personally meet Deb, GA2 moms, other FOD families and some of the top metabolic doctors in the world. The conference weekend is beyond words. Being able to learn other’s stories, good times and bad times and speak with the doctors on a personal one-on-one level was priceless. The medical knowledge, the practical knowledge and the encouragement from this weekend was love and passion at its purest. Thank you Deb for making this all possible and providing a canvas for all of us to paint our stories on.