The diagnosed: McKenzie, 2
The ones who love and care for
her: Vanessa and Michael (her parents) and big brother Cameron, 5
Name the diagnosis
Kerato-irido-lenticular dysgenesis - this
means that McKenzie's lenses and corneas were fused together at birth. During
development of the eyes there comes a time when the layer of cornea and layer
of lens separates and creates the anterior chamber of the eye. This step
did not happen for McKenzie.
In addition to the original diagnosis, McKenzie has
suffered repeated scar tissue growth and multiple retinal detachments in both
eyes. She also had glaucoma (increased pressure inside the eye) at
birth.
The day of McKenzie's birth was both the happiest
and worst day of my life. No one here could tell us what was wrong with her
eyes. At birth they projected out in a cone-like shape and there were white
flecks over the front. You could not see the whites of her eyes. Local
doctors gave us several options for further evaluation - we were assured these
were the "top eye institutes in the US". We chose John Hopkins since
it was the closest at over 5 hours away. (Others included Wills in Philadelphia,
Loma Linda in California, Bascom Palmer in Miami). We left for Hopkins the
day after we were discharged from St. Mary's.
Our experience at Hopkins was the worst. The doctor
there diagnosed McKenzie with Aphakia (congenital absence of the lenses) and
glaucoma. A very rare diagnosis. She had multiple exams and an ultrasound. The
doctor gave us very little hope. She wanted an emergent MRI of McKenzie's
brain and sent us to the ER to get it done. That was a nightmare! They ended up
admitting us, not letting McKenzie eat for hours and hours, and kept postponing
the MRI. When we finally got it done they initially said it looked normal,
but later told us her optic nerves appeared small. I was devastated!
The only good thing to come out of our visit to
Hopkins was the misdiagnosis of Aphakia. After she was diagnosed I let the
world of Facebook know. Many people started researching. A co-worker and fellow
PA (Physician Assistant) thought that if this were her child, what would
she want to find? The answer was other families with the same type of child, so
she began searching the Internet. She found a blog post from a woman in Canada
from 2007. This woman's daughter had been diagnosed with Aphakia and she was
seeking other parents of children with the same diagnosis.
Even though the post was 7 years old, I emailed
the woman. She replied, and gave me hope (her daughter could now recognize all
her colors and read extremely large print). She told me I needed to take
McKenzie to see Dr. Nischal at University of Pittsburgh Children's
Hospital. I immediately searched for Dr. Nischal's information and found his
email on the UPMC website. I emailed him all the information I had so far on
McKenzie and asked if he could see her. I gave him my email and phone number.
This was on a Sunday afternoon....HE CALLED ME BACK
WITHIN AN HOUR! He had a delightful British accent and said that he would see
her on Tuesday. He told me "don't despair, I'm sure something can be
done". It was the first bit of positive news we had been given since
McKenzie's birth.
She was 9 days old.
I forgot to mention that in the midst of us being
at Hopkins and living out of a hotel on minimal sleep and a roller coaster of
emotions, my husband's oldest brother and our sister-in-law decided they needed
to come to us for support....they lived in Pittsburgh at the time. My
sister-in-law is from Pittsburgh and had researched the children's hospital
there and had suggested we look into it. She knew nothing about Dr. Nischal at
the time. All things added up, and I felt God leading us to Pittsburgh.
At this point we still had a meeting on Monday
morning with the Dr. at Hopkins and a neurologist to discuss what, if anything,
could be done. And this entire time I was very concerned about the glaucoma,
but the Dr at Hopkins said she couldn't do anything for it because the
procedure to correct it required normal eye structures, which McKenzie did not
have. I asked several times about medications, and again she said it wouldn't
work because they needed normal eye structures. She also said it was not urgent
to control the glaucoma since McKenzie had likely had it all along in the
womb. Everything I knew from my medical training was the opposite, and I knew
that there was a short time to control it or risk permanent damage. Dr. Nischal
was concerned that McKenzie was not on any medications for the glaucoma as
well.
Skip to Monday and we met with the doctors at
Hopkins. I had mostly made up my mind that we were going to Pittsburgh, but
needed to see what they could offer McKenzie. We were presented with the option
of a cryolaser procedure to control the glaucoma (which, knowing what we
know now, would have permanently blinded her). I explained we had spoken to
another doctor and we planned on taking her for a second opinion. Incredibly
the Dr at Hopkins knew of Dr. Nischal--had trained at Wills with him during
residency--and she never mentioned him. At the time, Dr Nischal had treated the
most cases of Aphakia in the US, which is saying a lot considering how rare the
diagnosis is. I never felt confident with the doctor at Hopkins and I felt
that she had never seen a child like McKenzie herself. At this point Dr.
Nischal spoke to the doctor at Hopkins and instructed her on what medications
to start McKenzie on.
On Tuesday we went to UPMC for the appointment with
Dr. Nischal. When he walked in, he was a burst of light and joy for us. He
examined her for less than 5 minutes, did an in office ultrasound and declared
that she did not have Aphakia, that she had lenses they were simply
embedded in her corneas. He was leaving the country the next morning for 10
days and he had procedures scheduled for the afternoon. He called surgery, moved
all of his cases back to put McKenzie on 1st to do a thermal laser procedure on
her eyes to temporarily control the glaucoma.
After that I stayed in Pittsburgh with McKenzie and
followed up with Dr. Nischal's fellows, and my husband went home to be with our
son (we'd been away from him basically since I had McKenzie.) She later
underwent procedures to place a plate and drain tube in each eye to
control the glaucoma (a procedure the doctor at Hopkins said could not be done)
and multiple corneal transplants.
The past 2 years have held major ups and major
downs for us. McKenzie has had 21 surgeries to date and only the left
eye is open now (the right eye is closed off with scar tissue and has been for
the past year). We still do not know how much vision we can achieve for
McKenzie, but her doctor is confident that there are amazing therapies coming
with stem cell research. Our goal currently is to keep the eye open and keep
getting light to the retina. Currently I do not see any response to light from
her, but the scar tissue has not come back aggressively since the last
surgery in August, and the retina is attached.
Our life has changed immensely. Our son has dealt
with a lot. For the first year and a half of McKenzie's life I was gone at
least once a week to Pittsburgh, many times for several days at a time. His
routine was extremely disrupted, being picked up by grandparents and
family members, dealing with mommy being gone so much and with his sister
getting so much attention. We do not go out much anymore because McKenzie is on
cellcept (an immunosuppressant) and she has not had all her vaccines due to her
multiple surgeries. She must have in-home care while we are working. My
life revolves around going to work, taking McKenzie to doctor appointments and
trying to keep some sense of normalcy for Cam. We are all exhausted.
I have mourned the life she would have lived
without this diagnosis hundreds of times over. I am heartbroken and mad and
depressed. Most tell me how strong I am, but I feel weak. I cry many days, too
overwhelmed with what the future holds. I try not to think about it and
try just to focus on the now. But the reality is that without some miraculous
breakthrough we will be dealing with braille, seeing eye dogs, and the
heartbreak that she cannot do things a "normal" child/teenager can do
over and over again. But through all of this, McKenzie is a shining light.
She is always happy, smiling, and singing. She is determined and fierce! She
does not know any different, and although she will have many obstacles in this
life I think that she will tackle them brilliantly.
How does it affect your relationships?
Many relationships have suffered due to McKenzie's
issues. My husband and I are always tired and stretched too thin. We argue a
lot. Cam acts out, likely just looking for attention, and in turn we get
frustrated and yell at him too often. I rarely go to church, afraid to
expose McKenzie to any illness or because I'm working or just because we are
just so, so exhausted. But other relationships have strengthened. Many family
members have stepped up to help us. My mother is ALWAYS going with me to
Pittsburgh. My father picks Cam up from school and keeps him until the
evening when Michael is done with work. My mother-in-law and Michael's sister
have stepped in to travel with me and McKenzie at times. And even my cousin
Brad has stepped in, often traveling from Lexington with us to Pittsburgh and
he even kept Cam for several days himself during McKenzie's last surgery.
My aunt has helped with Cam as well, staying with him for several days
when there was no one else. Other family members have offered moral and
monetary support. In the beginning, Michael's oldest brother and his wife
opened their house to us weekly, kept Cam at their house during appointments
and surgeries, cooked for us, and helped lighten the mood many times during
dark moments. My co-workers have been AMAZING! They are all mostly willing
to switch or cover shifts whenever I need to be off for an appointment or
surgery.
What is the hardest part?
Not having vision has restricted McKenzie in
several ways. Although there is nothing wrong with her brain and she is very
smart, she is extremely sensitive to new textures and environments. At one
point when she was younger I could not take her to church because she would
become very upset due to the loud noise and multiple people coming to see and
touch her. She was especially afraid when hearing unfamiliar male voices. She will not eat any solid table
foods. She does not know how to chew (and how do you teach a 2 year old who
cannot see to chew something?) She will not even allow me to put anything
in her mouth with my fingers, or brush her teeth for that matter. She still uses a bottle (several attempts at giving
her a sippy have been unsuccessful) and she will only drink toddler formula and
milk.
She still cannot walk and has very little balance. We have also had a lot
of trouble regulating her sleep. She doesn't differentiate night from day because she can't see.
We went through a six month period where she would sleep for 2-3 hours, then be
up all night and sleep during the day. My husband and I were zombies during
this time and took turns staying up with her. I researched and researched
and learned that she was likely deficient in melatonin, which helps induce
sleep and regulates the sleep-wake cycle. Melatonin is normally
secreted during darkness, in response to the release of norepinephrine from
retinal photoreceptors and the resulting activation of the
retino-hypothalamic-pineal system. McKenzie was not getting much light to
her retinas, so this entire process was deficient in her. I also learned
that blind children need a much more rigid bedtime routine, which is very hard
for us!
What is an unexpectedly good part?
McKenzie is a bright spot in my life, despite her
issues. She can bring a smile to your face in an instant, and she is mostly so
so happy! I have learned over and over again that God's timing is perfect
- if we'd had McKenzie several years ago she would have most certainly become
permanently blind - Dr Nischal only came to the states in 2011. He is one of
only 2 doctors in the entire US performing surgeries on children like
McKenzie. He is a world renowned ophthalmologist with clinics in London and
India. Several times we have had surgeries moved up because of concerns he had
in waiting. One time, the eye was just about to perforate from the pressure;
had we waited a day longer the eye would have been lost. Once, a
retinal detachment not seen on ultrasound was found and corrected. It
is only by God's grace that we were directed to him.
When people try to comfort you, what is the
least comforting thing you hear (even though it may come from a good, kind
place)?
People say all the time, "well, she doesn't
know any different," meaning she doesn't know what it's like have normal
vision. I know they mean to be comforting, but it doesn't change the fact that
she will never be able to do many "normal" things.
Are there certain places you just can’t go and do
you have any advice for how the world can be more inclusive?
I have not encountered any issues so far with
regards to taking McKenzie places. I'm sure we will run across things in the
future that she is unable to do.
What do you want others to know about
parenting/living with this diagnosis?
Parenting is hard under "normal"
circumstances, but with a child with a disability it becomes 10 times harder
and it truly takes a village of support! I am trying to give McKenzie the best
chance possible at a "normal" life, but it's hard to pour all of
myself into her and then have anything left for Cam...and then my husband.
It is so so hard! I am guilty of neglecting different aspects of my life and
different relationships, but I don't know how to balance it all.
Most of the time I'm just surviving. I pray that the stress will
ease in the future and that we can just hold it together until then. My hope in
people reading this is that you understand how extremely hard it is for parents
like us and possibly give others a helping hand or a shoulder or
an ear-just any form of support, because we need it.
Resources/sites/support groups you'd like to share?
A site for facilitated guide dogs. Children younger than middle school age cannot have a "guide dog" and control the dog themselves, but you can get a Facilitated guide dog that the parent controls to help the child with mobility.
http://4pawsforability.org/facilitated-guide-dog/
http://4pawsforability.org/facilitated-guide-dog/
