Kayla's Story

Our sweet little Kayla was born on September 2, 2007. She is our first born child. It took my husband, Scott, and I (Brandi) 2 years to conceive her. I had fertility issues and we had to undergo artificial insemination. We were so pleased to find that it took on the first try, which normally doesn’t happen. Around the 4^th month of pregnancy the doctor found out I had fibroid tumors that were so large and would have to have a c-section. I had many ultrasounds during my pregnancy and nothing was ever detected. We had no idea Kayla would be born with bilateral microphthalmia. None of the doctors had ever seen this before. We kept asking questions, but nobody had any answers. My husband and I fell into a deep depression. We felt like we were all alone and had to search for every resource available in the entire state of Michigan . That’s when I found MAPS. I loved that I could see other children with the same condition. It was so inspiring to read other stories and to see how much these kids can do. I was so narrow-minded in the beginning, not realizing how much Kayla will be able to do. So many moms have supported me in ways they will never know. Other moms told me that this will become your new normal. I thought they were crazy, now I know what they meant. Do I wish Kayla could see me? Of course I do, but I will never give up hope that she won’t. And if she can’t ever see me I know in my heart that she will have all the love in the world.

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 Audrey's Story

Our Beautiful Angel sent from Heaven Above!

I am the mother of three beautiful, wonderful children, two boys and one little girl. On January 12, little Audrey Rose was born! I had some complications during pregnancy and we were told that she had severe heart defects. We were told that she would be blue when she was born and we would not be able to hold her. She would be put in an incubator and taken directly to NICU.

My husband and I could not understand why this was happening. He has 2 older children from a previous marriage that are healthy as horses and I have 2 young boys that are healthy also. We could not understand why this was happening to us, but found out later that this sort of thing just happens sometimes.
None of the things listed above happened. In fact, she was very pink in color, screaming, and we got to hold her for about 5 minutes before they took her away. Her Apgar score at birth and five minutes later was 9. It was a blessing from God!

She was transported to UCSF about 5 hours later. We went there to see her and on the second day they told us we could take her home. My husband and I discussed that we had not seen her eyes as of yet. It concerned us, so I asked the nurse about it. She told us that little Audrey had opened both her eyes and they were beautiful. When the cardiologist came in, we told him of our concerns because my husband tried to open her eyes, but had a difficult time. He tried also, but said he could not see anything. He wanted to get an ophthalmologist in there to take a look. He went to go talk to the nurse and we overheard her say that MAYBE she only saw one eye open. It was amazing that her story changed from one minute to the next.

After waiting a few hours, an ophthalmologist finally showed up. She said that she was not sure what was going on and wanted to get her superior there to look. We waited another two hours and finally he showed up. He was shaking like a leaf while trying to pry her eyes open with his tool.

After he was done he conferred with the first lady who showed up. They went outside of our room to do this. He came back in and he said, "One of her eyes is sealed shut and I can not get it open. It should open in a week. The other eye has a film over it that babies have while they are in the uterus and that should dissipate within a few days." So, we took our bundle of joy home.

We made an appt. with an ophthalmologist near home and took her in that next Friday. This woman confirmed our known fears. Our daughter was born without any eyeballs at all. She said there just was nothing in there. You can imagine our frustration with the ophthalmologists and nurse at UCSF. We did not discuss anything about it with UCSF though because we knew our little angel would have more surgeries there and did not want anything to happen to her.

It has been quite trying these past few months with little Audrey. Every time we take her to the ocularist for a new set of conformers she clings to my husband and screams. The ocularist has cut her eye and we have had to make numerous visits back and forth because he cannot get them in or they have to bake longer than a day.

Besides the conformers, she has also had 2 heart catheterizations, one heart surgery to put a shunt in, and her major open heart surgery done by Dr. Frank Hanley at Stanford hospital. This surgery took a total of 12 hours. During this operation they stopped her heart and fixed everything that is wrong. Now she will only have to go in every few years to have a new pulmonary valve put in. My husband and I are hoping that they have the stem cell research done by her next surgery. If they use stem cells, she will only have to have one more surgery and then her heart will be fixed completely.

You would never know that our little Angel has gone through so much. She is so full of energy and such a happy little girl. We are so blessed. Audrey has so many people in her life that love her so much.

I am looking forward to the time that the ocularist says it is time to put her painted eyes in. I cannot wait to see our little girl with eyes. She is so beautiful now; I know that she will just be that much prettier!!!

We have been through so much, but I thank God each and every day for all of my wonderful blessings! We have many to be thankful for! Audrey is one of the most special blessings we ever could have received!

Toby’s Story

 (We would like to thank our friends at MACS in the United Kingdom for sharing Toby's story with us.  To learn more about MACS visit their website. )

Toby was born on 15th June 1989 to parents Barry & Kelly. At birth it was discovered immediately that Toby was suffering from Bilateral Anopthalmia (no eyes) and also had a kidney problem. Toby spent the first 3 months of his life at Great Ormond Street under Dr Liederman and Mr Trompeter for his kidneys with frequent visits to Moorfields to visit Mr Richard Collin and Dr Nicky Ragge re his eye condition. Over the next months and years Toby progressed well and had many operations on his bladder and kidneys to ensure that this problem was controlled. He being the strong fighter that he is became well and very strong both mentally and physically. The eye problem was the least of our worries and Toby's. Of course having a blind child is a shock at first but Kelly and Barry very soon overcame this and decided that Toby is the most important person and he will not be treated any different to any other child and would have all life’s experiences.

When school time arrived it was decided that no way was Toby going to attend a special school. Greenwich council were contacted and with assistance of Jean Cavanagh who heads the Greenwich VI unit Toby obtained a place at Our Lady Of Grace in Charlton. Toby soon became one of the gang and was integrated 100%. It soon became clear that Toby was a very intelligent boy. He has perfect pitch and has since the age 4yrs attended The Blackheath Conservatory of Music under the instruction of Geoffrey Brown and obtained a distinction in theory and a merit in practical play in his grade one piano exams and has completed to grade four. Toby then moved on to a new School Invicta also in Charlton. He was in the top 5 pupils of his class and was involved in every aspect of the school curriculum. In September 2000 he started at Crown Woods School in Eltham, which has its own visual impairment support team. Toby passed his GCSE Music with an A Grade and has achieved many of his musical goals and other exam qualifications. He was fully integrated in mainstream School and went away on School journeys abroad and took in all other School activities. Toby has many hobbies these include piano, swimming, rowing and play station games Yes that’s right he loves the play station and beats all of his sighted friends at all of the many fighting games he has. How does he do it? Well we don't know. He also loves being involved in any thing to do with computers in fact Toby used to attend an evening class where he had touch-typing classes and gets very annoyed if he gets below 95%. He never has. He is also fully competent with his M Power Braille laptop and his mobile phone, which uses the Talx software for full speech access.

Toby has another love, which is any fast ride, roller coasters etc. Toby has travelled extensively since the age of 2 all over the USA, Europe, Australia, Dubai and Singapore and continues doing so every year giving him more life experience. He has taken his Dad on the highest scariest rides that the world has to offer and aims to ride every roller coaster in the world. So far his Mum has been on none. NO WAY SHE HAS SAID. We will see. Toby also loves to parasail, Jet Ski and go flying in helicopters and small planes; he looped the looped when he went gliding with the Kent Gliding Club and flew around Sydney Harbour in a seaplane and over the outback in a hot air balloon with Dad hanging on with white knuckles!

Toby loves the Theatre. He attend regular Musicals in London his most recent being Spamalot, Joseph, The Sound of Music and The Phantom of the Opera for the third time. Next on the list are Lord of the Rings and The War of The Worlds. He is involved with Vocal Eyes who provide audio description for visually impaired members of the audience.

Toby visited Capital Radio on several occasions when he was 12 and helped! Or hindered Chris Tarrant present the breakfast show, they remain friends. Toby has also appeared in the Channel 4 TV series Blinded and O2 and Me. Both provided a very positive image of a blind person.

Toby's ambition is to enter the world of Music and Theatre in relation to music composition and playing, an aim we as parents are sure he will achieve. He has recently had his music published by the RNIB in Braille. This was also performed at Handle House in London by a string quartet. Toby is a talented musician and Pianist. He has had work experience with Radio 4 and Action For The Blind.

Since then Toby has moved on is now 18 has a girlfriend and is in his 3rd year at the Hereford Royal National College for The Blind in Hereford studying Music performance, Maths and History and IT and living skills. He returned this year taking further courses at RNC and the local Hereford 6th form College where he is also studying Music composition. He is currently starting his grade 6 piano exams and taking Organ lessons in Hereford. He has now applied to University to take a degree in Music in 2008. He lives in a house (with 6 girls) with several other students with various degrees of visual impairment. For some reason he calls it Playboy Mansions!

Jake's Story

Jacob Orion  (JAKE) was born on 5/26/04 after a complicated delivery with the cord wrapped around his neck once, and twice around his body.  We were estatic to have our beautiful little boy finally in our arms, and very thankful he was alive.  The pediatrician immediately reffered several specialists to examine Jake because his face looked "dysmorphic."  The first few specialists dismissed the "odd face" as due to the difficult delivery.  24 hours after he was born the final specialist came in to examine Jake.  The alarm bells first went off in my mind when the doctor asked "If my other son was normal."  He then stated he needed to talk to my husband and I together.  He said that Jacob had "ambigious genetalia" and we could continue to consider him a male, but he could have a uterus(he did not).  He said he needed to transfer him to a high level NICU by ambulance as soon as they could arrange it.  They thought he could have other endocrine issues which could be life threatening.  About an hour later his eyes were examined by a pediatric opthamologist who told us he had underdeveloped eyes, (bilateral microphthalmia)and could be blind.  At around 6 months of age, my husband and I learned that Jake also had microcephaly (small head).   At that time they tested Jake for a few syndromes of which the children ususally never talked or walked. He had trouble with weight gain and growth, and was technically failure to thrive and struggled with an unexplained GI pain, diarrehea with small amounts of blood.

     It was all a very overwhelming and scary experience for my husband and I. There were times I was given news by the doctors, and my brain literally bleeped out portions of information because I was in too much shock and or denial.There wer so many unknowns, and unexplained, and Jake just never fitinto any "box". At times our faith and our hopes were dashed.  Gradually in our own time and in our own way we had to grieve the loss of not having a "typical" child, all the while fighting for Jakes medical care, and attending to helping with therapies.

     Now Jake is 3 years old and a very active walking and talking boy.  Despite our hugh concern for his cognitive development, he is following typical development thus far, other than minor fine motor delay.  He knows his shapes and colors and many letters.  He has a small amount of vision in one eye ( about 1 ft in front of him without detail) and navigates astoundingly.  He has never  fit into any syndrome, and all genetic testing has not found any micro deletions.  He started growth hormone at age 2 1/2 and has been growing like a weed, and his head size has increased with that as well.  He was given testosterone for his micropenis, and it grew quite a bit too.We turned our living room into a sensory, montesouri like pre-school to provide as much stimulation as possible. He is such a loving, delightful miracle child.  I really wanted to share my story with other parents, because sometimes when you are given grim news, your child may defy all the odds and statistics.  Don't give up the "fight" for your child to get proper medical care and as many services as possible. Don't forget that you are your child's best and most important therapist. If it seems an overwhelming, demanding task- IT IS.  (The hardest job you've ever done, for sure.) How do you eat an elephant? One bite at a time.

Best advice given to me by an experienced VI teacher :  ENJOY YOUR CHILD

Hardest advice to take:  ENJOY YOUR CHILD (focus on the now, and the cuteness, not the worries and fears)

Nona

Sheila's Story

Hello.  Warm greetings to all of you.  I am Sheila, a 36-year-old woman who has bilatteral anophthalmia.  I would like to tell you that not being able to see is just part of my life—a rather interesting part, as it teaches me all sorts of things I wouldn’t have had the opportunity to learn otherwise.  When I was very young, I don’t think I realized that I couldn’t see.  When I was 6, I went to a camp for the blind, Lion’s Camp.  I was delighted to meet other people who couldn’t see and to learn from and about them.  Not being able to see is not scary or sad for me, it’s just what I’ve always known.  I live a fulfilling  and happy life. Please feel free to ask me any questions you would like.  Feel free to contact Sheila.  

Joey's Story

Joey is 5 1/2  was born Nov 2001, our third male child.
We had NO IDEA there was anything wrong with him until he was born. Our older sons are very healthy.
When Joey was born, he was missing an eye, had Coloboma in the other, and a cleft mouth. The delivery OBGYN left the room and never came back because he "didn't know what to say" and had never delivered any 'handicapped children before". We were devistated. We were told within a few hours of Joey's birth that he was completely blind and brain damaged. (This was misdiagnosed, Joey is legally blind, with blind spots in one eye and the MRI came out "normal") We had no idea what other "issues" i.e CHARGE, for example, could possibly accompany Joey's "conditions" (Joey does not have CHARGE) and at that time there was not a lot of information on the internet about A/M. Parents have to be:
1) PROACTIVE
 2) TRUST THEIR PARENTAL INSTINCTS and
3) BECOME AS EDUCATED AS POSSIBLE VERY QUICKLY.

Karen Gartner, Castle Rock, Colorado
 

Ava's Story

 Bobby and I celebrated our second wedding anniversary with dinner, a movie and a positive pregnancy test – it couldn’t have been more perfect.  My pregnancy started out as a dream: no morning sickness, normal first-trimester test results and, because of my teaching career, I had the whole summer to nap as I pleased.  On October 14, 2004, we headed in for our 18 week ultrasound, excited to see our baby for the first time.  I still remember that feeling that I had when the tech called the doctor in.  It was a feeling that would stick with me for the rest of my pregnancy.  At that point, we were told that Ava had “possible dextrocardia,” which meant that it appeared as though her tiny heart was pushed to the wrong side of her chest.  In the end, this turned out to not be true!  But, because of that suspicion, the doctor examined every inch of Ava’s tiny body closely, and also told us that day that her orbits looked “a little small.”  That was the beginning of a journey that would change our lives forever.

  We had ultrasounds about every four weeks for the rest of my pregnancy and were eventually told that the baby probably had microphthalmia, but no one knew how severe.  Bobby was pretty accepting of the fact that our daughter may be blind; I was in complete denial.  Everything else was showing up perfect – the amnio came back normal, the heart issue was resolved, and she was otherwise growing normally.  Who ever heard of a baby being born with small eyes?  I decided that when she was born, everything would be resolved and all of my worries would be laid to rest.

  Ava came thundering into this world five weeks early at exactly 5 lbs. She was as healthy as could be, not requiring any oxygen or support.  So, when the neonatologist and pediatric ophthalmologist broke the news to us that Ava in fact had no eyes, I was beyond shocked.  I hadn’t prepared myself for this news.  It couldn’t have been my child, my marriage, my life.  Bobby and I, along with our families, went through some pretty dark days and weeks after Ava was born.  It felt like an emergency, even though Ava was a very normal infant, sleeping and eating her days away.  I wanted something more – I wanted my daughter to open her eyes and look at me.  Accepting that I would not experience that was very difficult; it was all a part of my grieving process. 

  The good news that we got is that Ava had no syndrome and no other anomalies, except for a hemangioma (“strawberry” birthmark) on her neck.  Soon after Ava’s birth, I started searching for information online and luckily found my life-line, the private Yahoo Bilateral Anophthalmia group.  I was invited to join and it was there that I poured my heart out to other parents who truly understood what I was going through.  Meanwhile, Ava’s support services began and a team of therapists assembled – acting as our family support system at first, and then beginning to work with Ava as she soon became much more than a sleepy newborn.

  On the medical side of things, Ava saw a pediatric ophthalmologist and a pediatric craniofacial surgeon at Children’s Hospital here in Pittsburgh.  They told us that she would have to have major surgery on her skull by the time that she was 6 months old.  They thought that her eyelids and orbits were too small to fit anything in that might help expand them.  That was something that we were not willing to accept!  I posted an emergency message to the BA group and asked for their advice – it was through some good advice that we found our wonderful ocularist, Walter Tillman, III.  He took one look at Ava and said that he could help her prepare for prosthetic eyes.  We then began a series of conformers, which slowly aid the growth of the orbits and eyelids.  They worked beautifully for Ava and when she was just 9 months old, she received her first set of prosthetic eyes.  It was a wonderful day for us!  In a way, I did get to experience that amazing moment when Ava opened her eyes for the first time.  Even though she couldn’t see me, she could feel me and hear me and smell me – she could feel the love coming from her mother. 

  Ava is now a strong, intelligent, silly, happy toddler, talking and walking like a champ.  She has done more in her little life than Bobby and I could have ever dreamed.  She has healed us, along with the support of those close to us and across the Internet.  Ava is blind, but she is not disabled. We feel lucky that Ava doesn’t have additional medical or developmental issues that can often come along with anophthalmia, but that doesn’t mean that she is “better” than anyone else’s child or more valuable.  That is just the way things turned out for us.  All of our children are precious and strong. 

  My best advice to new families facing anophthalmia or microphthalmia is as follows:

1.      Don’t listen to any doctor without consulting other parents first.  These conditions are rare and your doctor may not know what other parents know from first-hand experience.

2.      Reach out and ask for support.  Not just from your family and friends, but from your community.  We have met some amazing people because of Ava and we are blessed because of them.

3.      Be kind to yourself.  This is not your fault.  It will take time to get used to your circumstance, but you will be so strong because of it.  

Megan, Bobby and Ava Edmundson Pacheco

Pittsburgh, PA

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