JJ's Journey

NOVEMBER 2004

Jenna (JJ) Boguhn was born on November 2, 2004 at 36 weeks.  She weighed 6 lbs, 14 oz and scored a 9 on her apgar.  She showed to be a strong little girl and we now know how strong she really is.  Jenna was such a good baby (and still is!).  She slept well, ate well, and just loved being with her mommy, daddy, and two sisters. 

JANUARY 2005 – 2 months old

Jenna hit her first milestone of lying on her stomach and lifting her head!  We were so proud of her and her sisters just couldn't wait to play with her.

FEBRUARY 2005 – 3 months old

Jenna was hit with her first Respiratory Infection: RSV!  We were able to keep her home, but ended up in the Emergency Room twice in one week.  Thank god for the nebulizer we already had at home!  I remember the Attending Physician in the ER saying we need to figure out why her Pulse Ox was below normal and why she was breathing harder than she should.  Now I see this was a sign of things to come.

MARCH 2005 – 4 months old

Jenna was doing much better from being sick.  At 4 months, she was still able to lift head during tummy time, but could never sit or bear weight on her legs.  Her oldest sister was a lazy baby.  We thought she was just following her sissy’s footsteps.

APRIL 2005 – 5 months old

Looking back, Jenna started to loose some control during this month.  She wasn’t able to lift her head while lying on her stomach and her body slightly started to appear floppy when holding her on my hip and did not show much support while in her Jolly Jumper.

MAY 2005 – 6 months old

It wasn’t until Jenna’s 6 month well-visit with the pediatrician when I heard myself actually saying “I haven’t seen her do that (lift her head during tummy time) in a few weeks”.  It hit me hard thinking maybe something was wrong with our little girl.  The pediatrician stated that Jenna should be bearing weight on her legs by 9 months so we should wait until.  I worried for the next couple weeks if there was something wrong. 

JUNE 2005 – 7 moths old

Jenna hit 7 months and the worry overwhelmed me.  I could not wait another 2 months to find out if there was something wrong with our little babydoll.  I called the pediatrician’s office back to schedule a consult.  Unfortunately, we had to wait a few more weeks for that appointment.  

Family of ours informed us of Early Intervention and advised us to call for an evaluation.  This is when we met Megan, Jenna’s wonderful case worker.  She scheduled a Physical and Occupational Therapy evaluation within the next couple weeks.  After her evaluation, she was considered to be severely developmentally delayed as she was now 7 months old and scored 3 months for her gross motor skills.  PT was now to start 3 times per week with Ms. Carol.

After her E.I. evaluation, Jenna was then evaluated at her pediatricians office.  The exam showed her to be “floppy” and we were told she needed to see a Neurologist.  Our worries continued.

JULY 2005 – 8 months old

Jenna saw the Neurologist for the first time who suspected SMA and needed to confirm it with a DNA test.  I remember feeling as though I could not breath and the heart palpitations where so strong.  My husband and I were told that if she turns blue, take her to the ER.  If she does not eat, take her to the ER.  If her Respiratory Rate was over 60, take her to the ER.  We were told the grim news about life expectancy.  We were told there is no cure, no treatment, and to take her home and love her.  We could not believe that we were going to lose our little girl. 

During our wait for results, Jenna ended up sick again with a Respiratory infection.  This time it was Bronchiolitis.  Once again, back to the ER and many nebulizer treatments to break up the congestion in her chest.   But once again, we got through it.

AUGUST 2005 – 9 months old

It was a long, painful 4-6 week wait to get the results back.  After doing research on the internet, we knew the results were going to come back positive.  Jenna had many signs and symptoms of SMA. 

On August 10, 2005 – Jenna was diagnosed with SMA Type 1.   

With the determination of doing something for our daughter, despite what the local physicians have told us, we sought for help.  On August 29, we flew from Buffalo, NY to Salt Lake City, Utah to meet Dr. Kathryn Swoboda.  Dr. Swoboda informed us of the 3 most important things to a SMA child before starting drugs:  Respiratory, Respiratory, and Nutrition.  She gave us a script for a Cough Assist, V-PAP, and Suctioning Equipment.  It was definitely worth flying 2000 miles to obtain this information that could help our little girl. 

We enrolled her in a clinical study for Rilutek (a neuro-protective drug designed maintain her ability).  The next thing was determine her SMN2 protein copy.  Researchers have identified the SMN1 gene as the primary manufacturer of the SMN Protein. It is the absence/defect of this SMN1 gene that causes Spinal Muscular Atrophy. However, there is another form of this gene called SMN2. The SMN2 gene is similar to SMN1, but does not produce as much protein, or the right kind of protein, as the SMN1 gene. One determination of prognosis is the number of copies of the SMN2 gene. The greater the number of SMN2 copies, the more SMN protein is produced and the greater likelihood that more motor neurons remain healthy and productive. Individuals with only 1 or 2 copies of the SMN2 gene will typically have the most severe expressions of SMA.  It was determined that Jenna has 2 copies. 

SERVICES JENNA RECEIVES:

Physical Therapy - 3 times per week with Mr. Joe

Occupational Therapy – 2 times per week with Ms. Jean

Speech Therapy – 3 times per week with Ms. Valerie

Aquatic Therapy – 2 times per week with Ms. Colleen

Special Education Teacher - 3 times per week with Ms. Renee

Message Therapy – 6 visits with Ms. Maria

Nursing with Ms. MaryAnn, Ms. Chris, Ms. Jennifer

Click HERE to see my medical equipment.