We had been trying to have children for almost 10 years and finally after 7 losses we were blessed with a beautiful baby girl named Noah Maria. She decided to come early no matter what the consequences would be to her. I look back and totally understand that perseverance for life. She ended up in the NICU for over 2 months. During that time she was very sick. She did not have the strength to breast feed nor take a bottle so they had to put a NG tube (nasogastric tube) so they could give her nutrition. Somehow during her stay in the NICU she was infected with E Coli which turned into Sepsis. I remember being by her side so helpless and praying that she would make it through this horrible crisis. Again that perseverance and fight kept her alive! She could not keep anything down continuously vomiting and also had diarrhea. The doctors diagnosed and treated her for gastro reflux. We were new parents in this new environment that not even my family could help, because they never had experienced a sick child. It is remarkable how you immediately receive this ability of a mother’s intuition. I knew something was just not right, and the fear of losing my daughter gave me the ability to be her advocate. You see I was very shy and ignorant to all the medical lingo and procedures being thrown at me. I remember so clearly the day they sat us down and said I had to options, send her to a rehab hospital or take her home. We didn’t even hesitate she was coming home with us. Now, mind you, here I was so afraid that I would not be capable to care for my little Noah. She was so frail, but I had to find strength and face my fears. They trained me how to replace her NG tube, to medicate her, CPR and understand the apnea alarm if she stopped breathing.
For the next 2 months she continued to be so sick and crying 24/7. We thought she would never smile. This was not gastro reflux. She seemed to be in so much pain and because of it she was failure thrive. After 3 ER visits to Children’s Hospital, she was admitted. With a team of doctors and after almost 3 weeks in the hospital they diagnosed her with Abetalipoproteinemia at 6 months old.
Abetalipoproteinemia- This is an autosomal recessive genetic disorder. A, meaning she does not have betalipoprotein- emia meaning in the blood. The genetic defect is in MTP- mircosomal triglyceride transfer protein. Abnormal red blood cells are present called Acanthocytes. She is missing this tiny little protein, and the importance is so massive. This results in malabsorption of fat which would also include the fat soluble vitamins A,D,K and E. Vitamin A- vision problems (vision degeneration of the retina a condition called retinitis pigmentosa) Vitamins D, K- bleeding problems and Vitamin E ( progressive neurological deterioration) that are crucial for a healthy body. She is on a fat-free to a very low-fat diet and it has been a real challenge. There is no cure and the only treatment is high doses of the fat soluble vitamins in hopes she absorbs some of it. She is monitored very closely.
It was obvious now that the breast milk which was rich in fat was killing her. They gave her a special formula that was low in fat and sent her home. This disorder was rare and it was hard to find any information on how to help an infant. NIH has a protocol, but was only following adults. Noah would be the first child they would be following in this protocol. Even with this new formula she was still sick and not gaining weight. We were so desperate to find help. I would begin to spend my nights researching on the internet. I found a medical publication about a little boy in another country diagnosed with Abeta and they were using a very specialized formula that seemed to help. I contacted her doctors and they agreed to get the formula. It was amazing to see the turnaround! We finally got to see her smile for the first time. We had been told earlier that she would only need her NG tube for a couple of weeks, but it was clear to us that we had to make a more permanent decision to place a gtube (Gastrostomy Tube). She had it until she was 15 years old.
Noah Maria stopped growing when she was 13 years old. She is a very tall 4’8” in every sense of the word. She was bullied and hurt physically when she was in 4th grade so we took her out and began to home school. She has this huge personality and leaves an everlasting impression on everyone she meets. As her mother she has taught me the true meaning of FAITH and COURAGE.
These have been some difficult years even after diagnosis. This past summer she suddenly could not see at night. Could not even see her night-light in her room. She was experiencing night blindness. We took her to NIH and her doctors changed her dosage of Vitamin A and within 6 months it was corrected.
Noah is 18 years old and she is now with the undiagnosed program at NIH. Through genome sequencing they have found out that Noah is more complicated than we thought. She has so many new symptoms and we cannot find what is causing them. We have been so blessed to have such wonderful doctors at NIH. They truly care about rare diseases.
Abeta/undiagnosed is very rare and we do not have any official support group or any organization that can help us along our long journey. This is why we have decided to dedicate ourselves to helping in any way to promote awareness. What better way than to be a part of the incredible program Running for Rare diseases. This has been life changing for my daughter Noah! I say this because having an illness can be so isolating. When she received the email giving her the information about her partner Jon I saw this light of hope in her eyes. Then they began to email and then Skype! I believe it was an instant connection. I can sum this up with just two words. She was at NIH going through some difficult testing and really not feeling well. It was hard for me as well to see her struggling. We were sitting down in one of the waiting rooms and we heard then “ding” from her iPod. We looked at it and it was a message “Hey Partner………how are you doing? “ I looked at her and she was overwhelmed with the love of those words. He somehow knew when to message her. She hugged me and we both cried. Just two words…. just two words, that’s all it took. I will be forever thankful for those words and for Jon her partner.